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	X1000Genome_AA	X1000Genome_AC	X1000Genome_AF	X1000Genome_AFR_AF	X1000Genome_AMR_AF	X1000Genome_AN	X1000Genome_ASN_AF	X1000Genome_AVGPOST	X1000Genome_CIEND	X1000Genome_CIPOS	X1000Genome_END	X1000Genome_ERATE	X1000Genome_EUR_AF	X1000Genome_HOMLEN	X1000Genome_HOMSEQ	X1000Genome_LDAF	X1000Genome_RSQ	X1000Genome_SNPSOURCE	X1000Genome_SVLEN	X1000Genome_SVTYPE	X1000Genome_THETA	X1000Genome_VT	ACHILLES_Lineage_Results_Top_Genes	CGC_Cancer.Germline.Mut	CGC_Cancer.Molecular.Genetics	CGC_Cancer.Somatic.Mut	CGC_Cancer.Syndrome	CGC_Chr	CGC_Chr.Band	CGC_GeneID	CGC_Name	CGC_Other.Germline.Mut	CGC_Tissue.Type	COSMIC_n_overlapping_mutations	COSMIC_overlapping_mutation_descriptions	COSMIC_overlapping_primary_sites	ClinVar_ASSEMBLY	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_rs	ESP_AA	ESP_AAC	ESP_AA_AC	ESP_AA_AGE	ESP_AA_GTC	ESP_AvgAAsampleReadDepth	ESP_AvgEAsampleReadDepth	ESP_AvgSampleReadDepth	ESP_CA	ESP_CDP	ESP_CG	ESP_CP	ESP_Chromosome	ESP_DBSNP	ESP_DP	ESP_EA_AC	ESP_EA_AGE	ESP_EA_GTC	ESP_EXOME_CHIP	ESP_FG	ESP_GL	ESP_GM	ESP_GS	ESP_GTC	ESP_GTS	ESP_GWAS_PUBMED	ESP_MAF	ESP_PH	ESP_PP	ESP_Position	ESP_TAC	ESP_TotalAAsamplesCovered	ESP_TotalEAsamplesCovered	ESP_TotalSamplesCovered	Ensembl_so_accession	Ensembl_so_term	Familial_Cancer_Genes_Reference	Familial_Cancer_Genes_Synonym	HGNC_Accession.Numbers	HGNC_CCDS.IDs	HGNC_Chromosome	HGNC_Date.Modified	HGNC_Date.Name.Changed	HGNC_Date.Symbol.Changed	HGNC_Ensembl.Gene.ID	HGNC_Ensembl.ID.supplied.by.Ensembl.	HGNC_Entrez.Gene.ID	HGNC_Entrez.Gene.ID.supplied.by.NCBI.	HGNC_Enzyme.IDs	HGNC_Gene.family.description	HGNC_HGNC.ID	HGNC_Locus.Group	HGNC_Locus.Type	HGNC_Name.Synonyms	HGNC_OMIM.ID.supplied.by.NCBI.	HGNC_Previous.Names	HGNC_Previous.Symbols	HGNC_Primary.IDs	HGNC_Pubmed.IDs	HGNC_Record.Type	HGNC_RefSeq.IDs	HGNC_RefSeq.supplied.by.NCBI.	HGNC_Secondary.IDs	HGNC_Status	HGNC_Synonyms	HGNC_UCSC.ID.supplied.by.UCSC.	HGNC_UniProt.ID.supplied.by.UniProt.	HGNC_VEGA.IDs	HGVS_coding_DNA_change	HGVS_genomic_change	HGVS_protein_change	ORegAnno_bin	UniProt_alt_uniprot_accessions	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP.._NR	dbNSFP_GERP.._RS	dbNSFP_GERP.._RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_fold.degenerate	dbNSFP_genename	dbNSFP_hg18_pos.1.coor.	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_id	gene_type	havana_transcript	secondary_variant_classification	strand	transcript_id	variant_classification	variant_type	key	t_ref_count	t_alt_count
ARHGAP17	55114	broad.mit.edu	37	16	24971282	24971282	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:24971282T>G	ENST00000289968.6	-	8	661	c.592A>C	c.(592-594)Atg>Ctg	p.M198L	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.M198L|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.M198L|ARHGAP17_ENST00000575975.1_5'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	198	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AAGTTGTACATGTCTGCTGCA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	116	116			NA	NA	16		NA											NA				24971282		2197	4300	6497	SO:0001583	missense			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750	55114	55114		Rho GTPase activating proteins	18239	protein-coding gene	gene with protein product		608293			NA	10967100, 11431473	Standard	NM_018054	XM_005255413	NA	Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.592A>C	16.37:g.24971282T>G	ENSP00000289968:p.Met198Leu	NA	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	37	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	T	7.735	0.700058	0.15106	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000441763;ENST00000455311	T;T;T	0.50277	0.75;0.75;0.75	5.67	5.67	0.87782	BAR (3);	0.000000	0.52532	D	0.000072	T	0.41673	0.1169	L	0.42581	1.335	0.43632	D	0.996021	B;B;B;B	0.22080	0.015;0.064;0.008;0.064	B;B;B;B	0.24701	0.011;0.055;0.015;0.055	T	0.23084	-1.0198	10	0.25751	T	0.34	.	13.8404	0.63435	0.0:0.0:0.0:1.0	.	198;198;198;198	Q68EM7-4;C9IZD3;Q68EM7-2;Q68EM7	.;.;.;RHG17_HUMAN	L	198	ENSP00000289968:M198L;ENSP00000303130:M198L;ENSP00000406950:M198L	ENSP00000289968:M198L	M	-	1	0	ARHGAP17	24878783	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.068000	0.50018	2.153000	0.67306	0.477000	0.44152	ATG	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436548.3		-	ENST00000289968.6	Missense_Mutation	SNP	16 : 24971282 - 24971282 G PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	522	8
ARHGAP5	394	broad.mit.edu	37	14	32559928	32559928	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:32559928T>A	ENST00000345122.3	+	2	368	c.53T>A	c.(52-54)gTt>gAt	p.V18D	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V18D|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V18D|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V18D|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	18					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCAGTATAGTTGGACTCTCT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(9;77 350 3443 29227 41353)							NA				0													95	93	93			NA	NA	14		NA											NA				32559928		2203	4300	6503	SO:0001583	missense			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05					394	394		Rho GTPase activating proteins	675	protein-coding gene	gene with protein product		602680	growth factor independent 2	GFI2	NA	8537347	Standard	NM_001030055	XM_005267635	NA	Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.53T>A	14.37:g.32559928T>A	ENSP00000371897:p.Val18Asp	NA	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	37	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.770967	0.90108	.	.	ENSG00000100852	ENST00000555814;ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	T;T;T;T;T;T	0.66280	-0.2;1.98;1.98;1.98;1.98;0.25	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.80105	0.4562	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.83334	-0.0011	10	0.87932	D	0	.	15.4475	0.75243	0.0:0.0:0.0:1.0	.	18;18	Q13017-2;Q13017	.;RHG05_HUMAN	D	18	ENSP00000452372:V18D;ENSP00000452222:V18D;ENSP00000441692:V18D;ENSP00000371897:V18D;ENSP00000393307:V18D;ENSP00000451579:V18D	ENSP00000371897:V18D	V	+	2	0	ARHGAP5	31629679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.098000	0.63641	0.528000	0.53228	GTT	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409735.1		+	ENST00000345122.3	Missense_Mutation	SNP	14 : 32559928 - 32559928 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	452	9
ATXN2L	11273	broad.mit.edu	37	16	28846701	28846701	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:28846701C>T	ENST00000564304.1	+	20	2849	c.2684C>T	c.(2683-2685)gCg>gTg	p.A895V	ATXN2L_ENST00000395547.2_Missense_Mutation_p.A889V|ATXN2L_ENST00000325215.6_Missense_Mutation_p.A889V|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000336783.4_Missense_Mutation_p.A889V|ATXN2L_ENST00000570200.1_Missense_Mutation_p.A889V|ATXN2L_ENST00000340394.8_Missense_Mutation_p.A889V|ATXN2L_ENST00000382686.4_Missense_Mutation_p.A889V			Q8WWM7	ATX2L_HUMAN	ataxin 2-like	889				Q -> QQ (in Ref. 4; AAH10239).		membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCCAGCATGCGGCCCCCAGT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	44	44			NA	NA	16		NA											NA				28846701		2197	4299	6496	SO:0001583	missense				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488	11273	11273			31326	protein-coding gene	gene with protein product		607931			NA	11784712, 14769358	Standard	NM_007245	NM_007245	NA	Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000564304.1:c.2684C>T	16.37:g.28846701C>T	ENSP00000457613:p.Ala895Val	NA	B9EGM2|O95135|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	37		.	.	.	.	.	.	.	.	.	.	.	11.14	1.552144	0.27739	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.50548	0.74;0.76;0.74;0.74;0.75	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000006	T	0.55862	0.1947	N	0.24115	0.695	0.51012	D	0.999907	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D	0.78314	0.991;0.98;0.98;0.991;0.991;0.98;0.991	T	0.57596	-0.7784	10	0.48119	T	0.1	-10.6994	17.2962	0.87171	0.0:1.0:0.0:0.0	.	889;889;889;889;889;889;889	Q8WWM7-6;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;ATX2L_HUMAN;.;.;.;.	V	889	ENSP00000341459:A889V;ENSP00000378917:A889V;ENSP00000338718:A889V;ENSP00000372133:A889V;ENSP00000315650:A889V	ENSP00000315650:A889V	A	+	2	0	ATXN2L	28754202	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.609000	0.61148	2.613000	0.88420	0.563000	0.77884	GCG	ATXN2L-008	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000432048.1		+	ENST00000564304.1	Missense_Mutation	SNP	16 : 28846701 - 28846701 T PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	144	4
BCOR	54880	broad.mit.edu	37	X	39934135	39934135	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chrX:39934135A>G	ENST00000342274.4	-	4	826	c.464T>C	c.(463-465)aTa>aCa	p.I155T	BCOR_ENST00000378455.4_Missense_Mutation_p.I155T|BCOR_ENST00000397354.3_Missense_Mutation_p.I155T|BCOR_ENST00000378444.4_Missense_Mutation_p.I155T	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	155					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACTTTTTTGTATTCCAGGCGG	0.517		NA	F, N, S, T	RARA	retinoblastoma, AML, APL(translocation)		oculo-facio-cardio-dental genetic							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													58	58	58			NA	NA	X		NA											NA				39934135		2202	4300	6502	SO:0001583	missense			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337	54880	54880		Ankyrin repeat domain containing	20893	protein-coding gene	gene with protein product		300485	BCL6 co-repressor		NA	10898795	Standard	NM_017745	NM_017745	NA	Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000342274.4:c.464T>C	X.37:g.39934135A>G	ENSP00000345923:p.Ile155Thr	NA	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	37	CCDS14250.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242244	0.58995	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62	5.47	5.47	0.80525	.	.	.	.	.	T	0.75671	0.3881	L	0.27053	0.805	0.45930	D	0.998761	D;D;D;D	0.71674	0.998;0.998;0.997;0.998	D;D;D;D	0.81914	0.995;0.995;0.989;0.995	T	0.79222	-0.1892	9	0.87932	D	0	-16.4292	14.5759	0.68246	1.0:0.0:0.0:0.0	.	155;155;155;155	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	T	155	ENSP00000367716:I155T;ENSP00000380512:I155T;ENSP00000367705:I155T;ENSP00000345923:I155T;ENSP00000384485:I155T	ENSP00000345923:I155T	I	-	2	0	BCOR	39819079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.931000	0.70113	1.822000	0.53115	0.486000	0.48141	ATA	BCOR-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060670.1		-	ENST00000342274.4	Missense_Mutation	SNP	X : 39934135 - 39934135 G PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	493	9
BRINP2	57795	broad.mit.edu	37	1	177247848	177247848	+	Missense_Mutation	SNP	C	C	T	rs138472115		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:177247848C>T	ENST00000361539.4	+	7	1474	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1			bone morphogenetic protein/retinoic acid inducible neural-specific 2	388											NA						AAAGACCCATCGGATCCTACG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	92	96	95		1162	5.4	0.9	1	dbSNP_134	95	0,8600		0,0,4300	no	missense	FAM5B	NM_021165.2	101	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	388/784	177247848	1,13005	2203	4300	6503	SO:0001583	missense				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797	57795	57795			13746	protein-coding gene	gene with protein product			family with sequence similarity 5, member B	FAM5B	NA	15193423	Standard	NM_021165	NM_021165	NA	Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1162C>T	1.37:g.177247848C>T	ENSP00000354481:p.Arg388Trp	NA		37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586507	0.66105	2.27E-4	0.0	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.16897	2.31	5.39	5.39	0.77823	.	0.309039	0.35040	N	0.003497	T	0.34832	0.0911	L	0.57536	1.79	0.34722	D	0.728799	D;D;D	0.89917	1.0;1.0;0.994	P;P;P	0.62014	0.897;0.857;0.451	T	0.47249	-0.9132	10	0.87932	D	0	-23.9127	13.6933	0.62562	0.1543:0.8457:0.0:0.0	.	138;283;388	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	W	138;388	ENSP00000354481:R388W	ENSP00000354481:R388W	R	+	1	2	FAM5B	175514471	0.317000	0.24589	0.868000	0.34077	0.988000	0.76386	2.437000	0.44828	2.528000	0.85240	0.655000	0.94253	CGG	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084599.1		+	ENST00000361539.4	Missense_Mutation	SNP	1 : 177247848 - 177247848 T PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	475	6
C19orf45	374877	broad.mit.edu	37	19	7570440	7570440	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:7570440G>A	ENST00000361664.2	+	6	1074	c.933G>A	c.(931-933)tcG>tcA	p.S311S		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	311										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						CTCCGGAGTCGCACATCCTGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	53	51			NA	NA	19		NA											NA				7570440		2203	4300	6503	SO:0001819	synonymous_variant			BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723	374877	374877			24745	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_198534	NM_198534	NA	Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.933G>A	19.37:g.7570440G>A		NA	Q8N115	37	CCDS12179.2																																																																																			C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347808.1		+	ENST00000361664.2	Silent	SNP	19 : 7570440 - 7570440 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	306	6
CNTN4	152330	broad.mit.edu	37	3	2777910	2777910	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:2777910C>A	ENST00000397461.1	+	4	451	c.67C>A	c.(67-69)Ctg>Atg	p.L23M	CNTN4_ENST00000427331.1_Missense_Mutation_p.L23M|CNTN4_ENST00000418658.1_Missense_Mutation_p.L23M	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	23					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGATTCCACACTGCATGGCCC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	167	169			NA	NA	3		NA											NA				2777910		1850	4085	5935	SO:0001583	missense			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619	152330	152330		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	2174	protein-coding gene	gene with protein product		607280			NA	8586965, 12202991	Standard		NM_175607	NA	Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.67C>A	3.37:g.2777910C>A	ENSP00000380602:p.Leu23Met	NA	Q8IX14|Q8TC35	37	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613697	0.66672	.	.	ENSG00000144619	ENST00000422330;ENST00000455083;ENST00000418658;ENST00000397461;ENST00000434053;ENST00000427331	T;T;T;T;T	0.68903	-0.31;0.38;0.38;-0.36;0.38	6.07	6.07	0.98685	.	0.226293	0.30003	N	0.010655	T	0.78509	0.4294	L	0.54323	1.7	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.62649	0.862;0.905	T	0.74225	-0.3734	10	0.38643	T	0.18	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	23;23	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	M	23;23;23;23;41;23	ENSP00000408594:L23M;ENSP00000396010:L23M;ENSP00000380602:L23M;ENSP00000404085:L41M;ENSP00000413642:L23M	ENSP00000380602:L23M	L	+	1	2	CNTN4	2752910	0.829000	0.29322	0.933000	0.37362	0.903000	0.53119	1.506000	0.35747	2.885000	0.99019	0.655000	0.94253	CTG	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239236.2		+	ENST00000397461.1	Missense_Mutation	SNP	3 : 2777910 - 2777910 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	916	13
COBL	23242	broad.mit.edu	37	7	51096317	51096317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:51096317G>A	ENST00000265136.7	-	10	2641	c.2476C>T	c.(2476-2478)Cgg>Tgg	p.R826W	COBL_ENST00000395542.2_Missense_Mutation_p.R908W	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	826										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGGGGGTTCCGGCCCTCATGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(189;2119 2138 12223 30818 34679)							NA				0													55	57	56			NA	NA	7		NA											NA				51096317		2203	4300	6503	SO:0001583	missense			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078	23242	23242			22199	protein-coding gene	gene with protein product		610317	cordon-bleu homolog (mouse)		NA		Standard	NM_015198	NM_015198	NA	Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2476C>T	7.37:g.51096317G>A	ENSP00000265136:p.Arg826Trp	NA	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	37	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521241	0.44866	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.12774	2.66;2.66;2.65;2.65	5.2	2.41	0.29592	.	0.935820	0.08832	N	0.887110	T	0.16428	0.0395	N	0.22421	0.69	0.09310	N	1	D;D;D;D;P	0.69078	0.997;0.997;0.996;0.979;0.924	P;P;P;B;B	0.55923	0.787;0.787;0.617;0.409;0.409	T	0.21655	-1.0239	10	0.66056	D	0.02	.	5.3882	0.16229	0.0:0.6034:0.1544:0.2423	.	826;883;826;908;368	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	W	826;718;711;908	ENSP00000265136:R826W;ENSP00000401204:R718W;ENSP00000413498:R711W;ENSP00000378912:R908W	ENSP00000265136:R826W	R	-	1	2	COBL	51063811	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.260000	0.18424	0.205000	0.20568	-0.344000	0.07964	CGG	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342682.1		-	ENST00000265136.7	Missense_Mutation	SNP	7 : 51096317 - 51096317 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	162	4
CRLF2	64109	broad.mit.edu	37	X	1325350	1325350	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chrX:1325350C>T	ENST00000467626.1	-	0	410				CRLF2_ENST00000381566.1_Missense_Mutation_p.A109T|CRLF2_ENST00000381567.3_Missense_Mutation_p.A109T			Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	NA						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CAGCGACTTGCGGTGAAAACG	0.493		NA	Mis, T	P2RY8, IGH@	B-ALL, Downs associated ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		X,Y	Xp22.3; Yp11.3	64109	cytokine receptor-like factor 2		L	0													217	209	212			NA	NA	X		NA											NA				1325350		1958	4128	6086	SO:0001623	5_prime_UTR_variant			AF142570	CCDS75944.1, CCDS75945.1	Xp22.3 and Yp11.3	2011-10-07			ENSG00000205755	ENSG00000205755	64109	64109		Pseudoautosomal regions / PAR1	14281	protein-coding gene	gene with protein product		300357, 400023			NA	11237741, 11474172	Standard	NM_022148	NM_022148	NA	Approved	CRL2, TSLPR	uc004cpk.2	Q9HC73	OTTHUMG00000067432	ENST00000467626.1:c.-625G>A	X.37:g.1325350C>T		NA	Q9H5R3	37		.	.	.	.	.	.	.	.	.	.	.	4.127	0.021722	0.08006	.	.	ENSG00000205755	ENST00000381567;ENST00000400841;ENST00000381566	D;D;D	0.98400	-4.91;-4.91;-3.86	0.914	-0.981	0.10269	Fibronectin, type III (1);	1.183800	0.06595	U	0.752833	D	0.93815	0.8022	.	.	.	0.09310	N	1	P	0.46706	0.883	B	0.34418	0.182	D	0.89163	0.3531	9	0.45353	T	0.12	.	3.2605	0.06846	0.0:0.4718:0.0:0.5282	.	109	Q9HC73	CRLF2_HUMAN	T	109	ENSP00000370979:A109T;ENSP00000383641:A109T;ENSP00000370978:A109T	ENSP00000370978:A109T	A	-	1	0	CRLF2	1285350	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.346000	0.07760	-0.329000	0.08527	0.395000	0.25975	GCA	CRLF2-002	KNOWN	mRNA_end_NF|basic	processed_transcript	NA	protein_coding	OTTHUMT00000144414.1		-	ENST00000467626.1	5'UTR	SNP	X : 1325350 - 1325350 T PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	471	6
CYB561D1	284613	broad.mit.edu	37	1	110038541	110038541	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:110038541G>A	ENST00000527072.1	+	0	352				CYB561D1_ENST00000533024.1_3'UTR|CYB561D1_ENST00000310611.4_3'UTR|CYB561D1_ENST00000528785.1_Missense_Mutation_p.R117H|CYB561D1_ENST00000393709.3_Missense_Mutation_p.R60H|CYB561D1_ENST00000420578.2_Missense_Mutation_p.R117H|CYB561D1_ENST00000430195.2_3'UTR|CYB561D1_ENST00000496961.1_3'UTR|CYB561D1_ENST00000369868.3_Missense_Mutation_p.R139H			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	NA					electron transport chain|transport	integral to membrane	metal ion binding			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		AGCAGGACCCGCAGTGAGCTG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG,,,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	73	72	72		416,179,,,350	5.3	1	1		72	0,8600		0,0,4300	no	missense,missense,utr-3,utr-3,missense	CYB561D1	NM_001134400.1,NM_001134402.1,NM_001134403.1,NM_001134404.1,NM_182580.2	29,29,,,29	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,,,probably-damaging	139/252,60/173,,,117/230	110038541	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant			AK096354	CCDS800.1, CCDS44188.1, CCDS44189.1, CCDS44190.1, CCDS44191.1	1p13.2	2013-03-14	2013-03-14		ENSG00000174151	ENSG00000174151	284613	284613		Cytochrome b genes	26804	protein-coding gene	gene with protein product			cytochrome b-561 domain containing 1		NA	23249217	Standard	NM_182580	NM_182580	NA	Approved	FLJ39035, FLJ44753	uc010ovo.2	Q8N8Q1	OTTHUMG00000011051	ENST00000527072.1:c.*144G>A	1.37:g.110038541G>A		NA	B4DH97|Q52M36|Q5T6C2	37		.	.	.	.	.	.	.	.	.	.	G	20.8	4.047750	0.75846	2.27E-4	0.0	ENSG00000174151	ENST00000393709;ENST00000420578;ENST00000528785;ENST00000369868	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.35	5.35	0.76521	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.254613	0.37623	N	0.002004	T	0.49847	0.1581	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.71414	0.931;0.973;0.96;0.973	T	0.36286	-0.9754	10	0.41790	T	0.15	-13.3439	16.1086	0.81244	0.0:0.0:1.0:0.0	.	139;117;60;79	Q8N8Q1-3;Q8N8Q1;E9PCM8;Q6ZQS1	.;C56D1_HUMAN;.;.	H	60;117;117;139	ENSP00000377312:R60H;ENSP00000413530:R117H;ENSP00000434344:R117H;ENSP00000358884:R139H	ENSP00000358884:R139H	R	+	2	0	CYB561D1	109840064	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.453000	0.60061	2.788000	0.95919	0.555000	0.69702	CGC	CYB561D1-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390142.1		+	ENST00000527072.1	3'UTR	SNP	1 : 110038541 - 110038541 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	319	6
DMGDH	29958	broad.mit.edu	37	5	78326807	78326807	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:78326807C>T	ENST00000255189.3	-	10	1560	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	DMGDH_ENST00000540686.1_Missense_Mutation_p.R131H|DMGDH_ENST00000380311.4_Missense_Mutation_p.R310H	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	511					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCAGTTTGTGCGGCGAAAACT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	75	76			NA	NA	5		NA											NA				78326807		2203	4300	6503	SO:0001583	missense			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	29958	29958	1.5.99.2		24475	protein-coding gene	gene with protein product		605849			NA	10767172, 11231903	Standard	NM_013391	NM_013391	NA	Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1532G>A	5.37:g.78326807C>T	ENSP00000255189:p.Arg511His	NA	B2RBN0	37	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	34	5.357047	0.95854	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.94241	0.8151	M	0.90082	3.085	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.997;0.994	D;P;P;P	0.91635	0.999;0.829;0.856;0.722	D	0.94474	0.7687	10	0.72032	D	0.01	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	131;310;361;511	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	H	511;350;310;131;361	ENSP00000255189:R511H;ENSP00000430972:R350H;ENSP00000369667:R310H;ENSP00000439478:R131H	ENSP00000255189:R511H	R	-	2	0	DMGDH	78362563	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.729000	0.84864	2.771000	0.95319	0.563000	0.77884	CGC	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226963.3		-	ENST00000255189.3	Missense_Mutation	SNP	5 : 78326807 - 78326807 T PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	225	4
EPG5	57724	broad.mit.edu	37	18	43496007	43496007	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr18:43496007G>A	ENST00000282041.5	-	19	3583	c.3549C>T	c.(3547-3549)gaC>gaT	p.D1183D	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1183					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCTGTATGCAGTCTTCCTGCA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	54	55			NA	NA	18		NA											NA				43496007		1905	4118	6023	SO:0001819	synonymous_variant			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223	57724	57724			29331	protein-coding gene	gene with protein product		615068	KIAA1632	KIAA1632	NA	10997877, 20550938	Standard	NM_020964	XM_005258323	NA	Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3549C>T	18.37:g.43496007G>A		NA	A2BDF3|Q9H8C8	37	CCDS11926.2																																																																																			EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445081.1		-	ENST00000282041.5	Silent	SNP	18 : 43496007 - 43496007 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	175	5
FOLH1	2346	broad.mit.edu	37	11	49186293	49186293	+	Silent	SNP	C	C	T	rs141224157	by1000genomes	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:49186293C>T	ENST00000340334.7	-	14	1727	c.1359G>A	c.(1357-1359)ccG>ccA	p.P453P	FOLH1_ENST00000356696.3_Silent_p.P468P|FOLH1_ENST00000533034.1_Silent_p.P453P|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000343844.4_Silent_p.P160P|FOLH1_ENST00000256999.2_Silent_p.P468P	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	468	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TGTACATCAGCGGTGTACAAT	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	42	42			NA	NA	11		NA											NA				49186293		2197	4295	6492	SO:0001819	synonymous_variant			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	2346	2346	3.4.17.21		3788	protein-coding gene	gene with protein product	glutamate carboxylase II, glutamate carboxypeptidase II	600934		FOLH	NA	9838072	Standard	NM_004476	NM_001193472	NA	Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000340334.7:c.1359G>A	11.37:g.49186293C>T		NA	A4UU12|A9CB79|B7Z343|D3DQS5|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	37	CCDS53628.1																																																																																			FOLH1-003	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390899.1		-	ENST00000340334.7	Silent	SNP	11 : 49186293 - 49186293 T PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	413	6
GABRA6	2559	broad.mit.edu	37	5	161115979	161115979	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:161115979C>T	ENST00000274545.5	+	4	683	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	GABRA6_ENST00000522269.1_3'UTR|RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Intron			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	84					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTTTTTTTCCGCCAGACCTG	0.408		NA								TCGA Ovarian(5;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	83	82			NA	NA	5		NA											NA				161115979		2203	4299	6502	SO:0001583	missense				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863	2559	2559		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4080	protein-coding gene	gene with protein product	GABA(A) receptor, alpha 6	137143			NA	8020978	Standard		NM_000811	NA	Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.250C>T	5.37:g.161115979C>T	ENSP00000274545:p.Arg84Cys	NA	A8K096|Q4VAV2	37	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915608	0.92178	.	.	ENSG00000145863	ENST00000274545;ENST00000517823	T;T	0.80566	-1.39;-1.39	5.65	5.65	0.86999	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93103	0.7804	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94213	0.7460	10	0.87932	D	0	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	84	Q16445	GBRA6_HUMAN	C	84;31	ENSP00000274545:R84C;ENSP00000430212:R31C	ENSP00000274545:R84C	R	+	1	0	GABRA6	161048557	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.843000	0.69424	2.824000	0.97209	0.655000	0.94253	CGC	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252707.2		+	ENST00000274545.5	Missense_Mutation	SNP	5 : 161115979 - 161115979 T PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	476	7
GRM4	2914	broad.mit.edu	37	6	34003844	34003844	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr6:34003844G>A	ENST00000538487.2	-	9	2486	c.2043C>T	c.(2041-2043)ttC>ttT	p.F681F	GRM4_ENST00000374181.4_Silent_p.F681F|GRM4_ENST00000374177.3_Silent_p.F565F|GRM4_ENST00000544773.2_Silent_p.F512F|GRM4_ENST00000535756.1_Silent_p.F548F|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000455714.2_Silent_p.F541F|GRM4_ENST00000609222.1_Silent_p.F548F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	NA					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TGCCCTGCTCGAAGATGCGGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	139	137			NA	NA	6		NA											NA				34003844		2203	4300	6503	SO:0001819	synonymous_variant			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493	2914	2914		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4596	protein-coding gene	gene with protein product		604100			NA	8738157, 9473604	Standard		NM_000841	NA	Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2043C>T	6.37:g.34003844G>A		NA	Q5SZ84	37	CCDS4787.1																																																																																			GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040213.2		-	ENST00000538487.2	Silent	SNP	6 : 34003844 - 34003844 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	367	6
HECTD2	143279	broad.mit.edu	37	10	93261004	93261004	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr10:93261004A>G	ENST00000298068.5	+	20	2217	c.2123A>G	c.(2122-2124)cAt>cGt	p.H708R	HECTD2_ENST00000371667.1_Missense_Mutation_p.H358R|HECTD2_ENST00000536715.1_Missense_Mutation_p.H297R|HECTD2_ENST00000446394.1_Missense_Mutation_p.H712R	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	708	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AAGTTGCTACATTTTACTACA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(12;376 469 1699 39910 41417)							NA				0													143	142	143			NA	NA	10		NA											NA				93261004		2203	4300	6503	SO:0001583	missense			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338	143279	143279			26736	protein-coding gene	gene with protein product			HECT domain containing 2		NA	8619474, 9110174	Standard		NM_001284274	NA	Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.2123A>G	10.37:g.93261004A>G	ENSP00000298068:p.His708Arg	NA	Q5VZ97|Q5VZ99|Q8TCP5	37	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.198465	0.38806	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000536715;ENST00000371667	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.73	5.73	0.89815	HECT (4);	0.000000	0.85682	D	0.000000	T	0.24851	0.0603	N	0.02181	-0.65	0.54753	D	0.999988	B;B	0.17667	0.001;0.023	B;B	0.15870	0.002;0.014	T	0.24368	-1.0162	10	0.07030	T	0.85	.	14.5862	0.68326	1.0:0.0:0.0:0.0	.	712;708	E7ERR3;Q5U5R9	.;HECD2_HUMAN	R	712;708;297;358	ENSP00000401023:H712R;ENSP00000298068:H708R;ENSP00000439687:H297R;ENSP00000360731:H358R	ENSP00000298068:H708R	H	+	2	0	HECTD2	93250984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.837000	0.75354	2.180000	0.69256	0.533000	0.62120	CAT	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098620.1		+	ENST00000298068.5	Missense_Mutation	SNP	10 : 93261004 - 93261004 G PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	397	13
KCNMA1	3778	broad.mit.edu	37	10	78868281	78868281	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr10:78868281C>T	ENST00000286627.5	-	9	2133	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	KCNMA1_ENST00000354353.5_Missense_Mutation_p.R394H|KCNMA1_ENST00000286628.8_Missense_Mutation_p.R394H|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R394H|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R394H|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R394H	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	394					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GTATTTCTTGCGGTTTCCTAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	115	116			NA	NA	10		NA											NA				78868281		2203	4300	6503	SO:0001583	missense			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113	3778	3778		Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated	6284	protein-coding gene	gene with protein product	BK channel alpha subunit	600150		SLO	NA	7987297, 16382103	Standard	NM_002247	NM_002247	NA	Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286627.5:c.1181G>A	10.37:g.78868281C>T	ENSP00000286627:p.Arg394His	NA	Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	37	CCDS7352.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.003054|5.003054	0.93287|0.93287	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|D;D;D;D;D;D;D;D;D	.|0.86366	.|-2.1;-2.07;-2.08;-2.09;-2.1;-2.1;-2.1;-2.11;-2.09	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92805|0.92805	0.7712|0.7712	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;P;P	.|0.89917	.|1.0;0.979;0.988;1.0;0.988;0.911;0.895	.|D;B;P;D;P;P;B	.|0.91635	.|0.999;0.372;0.674;0.991;0.576;0.557;0.372	D|D	0.92656|0.92656	0.6137|0.6137	5|10	.|0.87932	.|D	.|0	-11.5534|-11.5534	20.3248|20.3248	0.98698|0.98698	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|394;394;394;394;394;176;394	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;Q5SVJ7	.|.;.;.;KCMA1_HUMAN;.;.;.	T|H	345|394;331;329;368;331;394;394;368;394;394;394;176	.|ENSP00000361517:R394H;ENSP00000361485:R331H;ENSP00000361514:R329H;ENSP00000396608:R368H;ENSP00000361520:R394H;ENSP00000286627:R394H;ENSP00000385552:R394H;ENSP00000346321:R394H;ENSP00000385806:R394H	.|ENSP00000286627:R394H	A|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78538287|78538287	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.463000|7.463000	0.80869|0.80869	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	GCA|CGC	KCNMA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048877.3		-	ENST00000286627.5	Missense_Mutation	SNP	10 : 78868281 - 78868281 T PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	461	6
KMT2C	58508	broad.mit.edu	37	7	151877209	151877209	+	Silent	SNP	C	C	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:151877209C>A	ENST00000262189.6	-	37	7370	c.7152G>T	c.(7150-7152)cgG>cgT	p.R2384R	KMT2C_ENST00000355193.2_Silent_p.R2384R	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA											NA						GTAACTTCTGCCGCTAAATGG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	142	145			NA	NA	7		NA											NA				151877209		2203	4300	6503	SO:0001819	synonymous_variant			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7152G>T	7.37:g.151877209C>A		NA		37	CCDS5931.1																																																																																			KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Silent	SNP	7 : 151877209 - 151877209 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	612	9
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	319	6
KRTAP4-7	100132476	broad.mit.edu	37	17	39240781	39240781	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:39240781C>A	ENST00000391417.4	+	1	323	c.323C>A	c.(322-324)aCc>aAc	p.T108N		NM_033061.3	NP_149050.3			keratin associated protein 4-7	NA										NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						tgccagcccacctgctgccgc	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	15	14			NA	NA	17		NA											NA				39240781		1874	3648	5522	SO:0001583	missense			AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871	100132476	100132476		Keratin associated proteins	18898	protein-coding gene	gene with protein product					NA	11279113	Standard		NM_033061	NA	Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.323C>A	17.37:g.39240781C>A	ENSP00000375236:p.Thr108Asn	NA		37	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	7.648	0.682264	0.14907	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00609	6.24	3.41	1.04	0.20106	.	1.411810	0.05113	U	0.489187	T	0.00580	0.0019	.	.	.	0.21697	N	0.999583	B	0.20550	0.046	B	0.20384	0.029	T	0.45234	-0.9275	9	0.42905	T	0.14	.	7.6942	0.28585	0.1798:0.6442:0.176:0.0	.	108	Q9BYR0	KRA47_HUMAN	N	108;99	ENSP00000375236:T108N	ENSP00000375236:T108N	T	+	2	0	KRTAP4-9;KRTAP4-7	36494307	0.000000	0.05858	0.287000	0.24848	0.438000	0.31896	-2.909000	0.00699	0.494000	0.27859	0.455000	0.32223	ACC	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257686.1		+	ENST00000391417.4	Missense_Mutation	SNP	17 : 39240781 - 39240781 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	85	4
MAP2K4	6416	broad.mit.edu	37	17	12043158	12043158	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:12043158T>G	ENST00000415385.3	+	11	1129	c.1076T>G	c.(1075-1077)cTt>cGt	p.L359R	MAP2K4_ENST00000353533.5_Missense_Mutation_p.L348R	NM_001281435.1	NP_001268364.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	348	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(2)|p.L348R(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TATTTTAGCCTTACGAAGGAT	0.333		NA	D, Mis, N		pancreatic, breast, colorectal									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	13	Whole gene deletion(10)|Unknown(2)|Substitution - Missense(1)	ovary(4)|breast(4)|biliary_tract(2)|pancreas(2)|lung(1)											112	118	116			NA	NA	17		NA											NA				12043158		2203	4300	6503	SO:0001583	missense			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	6416	6416	2.7.12.2	Mitogen-activated protein kinase cascade / Kinase kinases	6844	protein-coding gene	gene with protein product		601335		SERK1	NA	7716521	Standard		NM_003010	NA	Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000415385.3:c.1076T>G	17.37:g.12043158T>G	ENSP00000410402:p.Leu359Arg	NA	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	37		.	.	.	.	.	.	.	.	.	.	T	24.2	4.507873	0.85282	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.34472	1.36;1.36	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71281	0.3321	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.80596	-0.1312	10	0.87932	D	0	.	14.9931	0.71406	0.0:0.0:0.0:1.0	.	220;359;348	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	R	348;359;325;220	ENSP00000262445:L348R;ENSP00000410402:L359R	ENSP00000262445:L348R	L	+	2	0	MAP2K4	11983883	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.525000	0.81892	2.371000	0.80710	0.533000	0.62120	CTT	MAP2K4-002	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000441227.1		+	ENST00000415385.3	Missense_Mutation	SNP	17 : 12043158 - 12043158 G PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	579	18
MAVS	57506	broad.mit.edu	37	20	3844906	3844906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr20:3844906C>T	ENST00000428216.2	+	6	757	c.629C>T	c.(628-630)gCg>gTg	p.A210V	MAVS_ENST00000416600.2_Missense_Mutation_p.A69V|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	210					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCGGCAGGTGCGACCTCCAGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	88	91	90		629,206	-2.5	0	20		90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MAVS	NM_020746.4,NM_001206491.1	64,64	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign,benign	210/541,69/400	3844906	1,13005	2203	4300	6503	SO:0001583	missense			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888	57506	57506			29233	protein-coding gene	gene with protein product	virus-induced signaling adaptor, IFN-B promoter stimulator 1, CARD adaptor inducing IFN-beta	609676			NA	16125763, 16153868	Standard	NM_020746	NM_020746	NA	Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.629C>T	20.37:g.3844906C>T	ENSP00000401980:p.Ala210Val	NA	Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	37	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	C	4.610	0.113443	0.08831	0.0	1.16E-4	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.28666	1.6;2.65	3.84	-2.51	0.06365	.	3.330980	0.00987	N	0.003467	T	0.11024	0.0269	N	0.05078	-0.115	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.15809	-1.0424	10	0.05351	T	0.99	4.4599	0.9205	0.01314	0.1672:0.3485:0.1665:0.3178	.	210	Q7Z434	MAVS_HUMAN	V	69;210	ENSP00000413749:A69V;ENSP00000401980:A210V	ENSP00000413749:A69V	A	+	2	0	MAVS	3792906	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-1.043000	0.03535	-0.435000	0.07264	0.650000	0.86243	GCG	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077784.3		+	ENST00000428216.2	Missense_Mutation	SNP	20 : 3844906 - 3844906 T PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	483	6
MBNL1	4154	broad.mit.edu	37	3	152150611	152150611	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:152150611C>T	ENST00000355460.2	+	4	1865	c.451C>T	c.(451-453)Ccg>Tcg	p.P151S	MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000463374.1_Missense_Mutation_p.P151S|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000492948.1_Missense_Mutation_p.P151S|MBNL1_ENST00000324196.5_Missense_Mutation_p.P151S|MBNL1_ENST00000324210.5_Missense_Mutation_p.P151S|MBNL1_ENST00000357472.3_Missense_Mutation_p.P151S|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000493459.1_Missense_Mutation_p.P94S|MBNL1_ENST00000485509.1_Missense_Mutation_p.P151S|MBNL1_ENST00000282486.6_Missense_Mutation_p.P151S|MBNL1_ENST00000498502.1_Missense_Mutation_p.P151S	NM_207292.1	NP_997175.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	151					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AGAGATCTTGCCGACTGCACC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	131	129			NA	NA	3		NA											NA				152150611		2203	4300	6503	SO:0001583	missense			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601	4154	4154		Zinc fingers, CCCH-type domain containing	6923	protein-coding gene	gene with protein product		606516	muscleblind (Drosophila)-like, muscleblind-like (Drosophila)	MBNL	NA		Standard	NM_021038	NM_021038	NA	Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000355460.2:c.451C>T	3.37:g.152150611C>T	ENSP00000347637:p.Pro151Ser	NA	O43311|O43797	37	CCDS3164.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134710	0.94517	.	.	ENSG00000152601	ENST00000282486;ENST00000355460;ENST00000495875;ENST00000493459;ENST00000324210;ENST00000460591;ENST00000498502;ENST00000324196;ENST00000357472;ENST00000463374;ENST00000492948;ENST00000485509;ENST00000478535	T;T;T;T;T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.70211	0.3198	M	0.86953	2.85	0.80722	D	1	D;P;P;D;D;D;D	0.89917	1.0;0.947;0.725;1.0;0.974;1.0;1.0	D;P;P;D;P;D;D	0.91635	0.999;0.677;0.779;0.988;0.742;0.992;0.999	T	0.76102	-0.3082	10	0.59425	D	0.04	-12.4426	18.3327	0.90276	0.0:1.0:0.0:0.0	.	151;151;151;151;94;151;151	C9JP00;E9PBW7;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.;.;MBNL1_HUMAN;.;.;.;.	S	151;151;59;94;151;59;151;151;151;151;151;151;54	ENSP00000282486:P151S;ENSP00000347637:P151S;ENSP00000417741:P59S;ENSP00000419347:P94S;ENSP00000319429:P151S;ENSP00000420680:P59S;ENSP00000420327:P151S;ENSP00000319374:P151S;ENSP00000350064:P151S;ENSP00000418108:P151S;ENSP00000420103:P151S;ENSP00000418876:P151S;ENSP00000418508:P54S	ENSP00000282486:P151S	P	+	1	0	MBNL1	153633301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.895000	0.75660	2.396000	0.81511	0.563000	0.77884	CCG	MBNL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353599.1		+	ENST00000355460.2	Missense_Mutation	SNP	3 : 152150611 - 152150611 T PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	734	7
MICAL2	9645	broad.mit.edu	37	11	12231128	12231128	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:12231128G>A	ENST00000256194.4	+	6	962	c.674G>A	c.(673-675)cGc>cAc	p.R225H	MICAL2_ENST00000379612.3_Missense_Mutation_p.R225H|MICAL2_ENST00000537344.1_Missense_Mutation_p.R225H|MICAL2_ENST00000342902.5_Missense_Mutation_p.R225H|MICAL2_ENST00000527546.1_Missense_Mutation_p.R225H	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	225						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCCGATGGCCGCAGGAACACC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	118	122			NA	NA	11		NA											NA				12231128		2201	4294	6495	SO:0001583	missense			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816	9645	9645			24693	protein-coding gene	gene with protein product		608881			NA	12110185	Standard	NM_014632	XM_005253249	NA	Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.674G>A	11.37:g.12231128G>A	ENSP00000256194:p.Arg225His	NA	D3DQW5|Q7Z3A8	37	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.054766	0.55325	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19	5.3	4.38	0.52667	Aromatic-ring hydroxylase-like (1);	0.135126	0.47093	N	0.000256	T	0.11410	0.0278	M	0.65975	2.015	0.42116	D	0.991403	B;B;B;B;B	0.29115	0.233;0.12;0.037;0.076;0.039	B;B;B;B;B	0.23716	0.048;0.022;0.021;0.016;0.014	T	0.03212	-1.1060	10	0.48119	T	0.1	.	12.8422	0.57809	0.0803:0.0:0.9197:0.0	.	225;225;225;225;225	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	H	225	ENSP00000441689:R225H;ENSP00000256194:R225H;ENSP00000433965:R225H;ENSP00000344894:R225H;ENSP00000368932:R225H	ENSP00000256194:R225H	R	+	2	0	MICAL2	12187704	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.573000	0.74009	1.438000	0.47492	0.557000	0.71058	CGC	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385993.1		+	ENST00000256194.4	Missense_Mutation	SNP	11 : 12231128 - 12231128 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	320	5
MTR	4548	broad.mit.edu	37	1	237054527	237054527	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:237054527C>G	ENST00000366577.5	+	29	3496	c.3102C>G	c.(3100-3102)ttC>ttG	p.F1034L	MTR_ENST00000535889.1_Missense_Mutation_p.F983L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1034	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TGGTTGGGTTCTGGCCAGCAC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	117	117			NA	NA	1		NA											NA				237054527		2203	4300	6503	SO:0001583	missense			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	4548	4548	2.1.1.13		7468	protein-coding gene	gene with protein product		156570			NA	8968735	Standard	NM_000254	NM_000254	NA	Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3102C>G	1.37:g.237054527C>G	ENSP00000355536:p.Phe1034Leu	NA	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	37	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232160	0.39498	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;T	0.75477	-0.94;-0.94;-0.94	5.48	4.57	0.56435	Vitamin B12-dependent methionine synthase, activation domain (3);	0.173034	0.51477	D	0.000096	T	0.57636	0.2067	L	0.28740	0.885	0.47276	D	0.999379	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.12837	0.008;0.006;0.008	T	0.50792	-0.8786	10	0.05351	T	0.99	-18.3064	11.5051	0.50461	0.0:0.8551:0.0:0.1449	.	1034;983;1034	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	L	888;1034;983;588	ENSP00000355536:F1034L;ENSP00000441845:F983L;ENSP00000355535:F588L	ENSP00000355535:F588L	F	+	3	2	MTR	235121150	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	1.751000	0.38339	1.307000	0.44944	0.561000	0.74099	TTC	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096632.2		+	ENST00000366577.5	Missense_Mutation	SNP	1 : 237054527 - 237054527 G PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	650	6
NHP2L1	4809	broad.mit.edu	37	22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	76	79			NA	NA	22		NA											NA				42071074		2203	4300	6503	SO:0001583	missense				CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138	4809	4809			7819	protein-coding gene	gene with protein product	small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)	601304	non-histone chromosome protein 2 (S. cerevisiae)-like 1, sperm specific antigen 1	SSFA1	NA	8978773	Standard	NM_001003796	NM_005008	NA	Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.250C>T	22.37:g.42071074G>A	ENSP00000383949:p.Arg84Cys	NA		37	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089824	0.55968	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.34	4.33	0.51752	Ribosomal protein L7Ae conserved site (1);Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.046546	0.85682	D	0.000000	T	0.49575	0.1565	L	0.58428	1.81	0.80722	D	1	B	0.25667	0.131	B	0.17722	0.019	T	0.53443	-0.8438	10	0.87932	D	0	.	14.2921	0.66286	0.072:0.0:0.928:0.0	.	84	P55769	NH2L1_HUMAN	C	84;84;84;88	ENSP00000347401:R84C;ENSP00000215956:R84C;ENSP00000383949:R84C;ENSP00000383989:R88C	ENSP00000215956:R84C	R	-	1	0	NHP2L1	40401020	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.467000	0.80930	1.400000	0.46741	-0.229000	0.12294	CGC	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321682.1		-	ENST00000401959.1	Missense_Mutation	SNP	22 : 42071074 - 42071074 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	306	5
NOTCH3	4854	broad.mit.edu	37	19	15297738	15297738	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:15297738G>A	ENST00000263388.2	-	12	1977	c.1902C>T	c.(1900-1902)tgC>tgT	p.C634C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	634	EGF-like 16; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGCCATCACGGCAGACTCCAA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	83	92			NA	NA	19		NA											NA				15297738		2203	4300	6503	SO:0001819	synonymous_variant			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181	4854	4854		Ankyrin repeat domain containing	7883	protein-coding gene	gene with protein product		600276	Notch (Drosophila) homolog 3, Notch homolog 3 (Drosophila)	CADASIL	NA	7835890	Standard	NM_000435	NM_000435	NA	Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1902C>T	19.37:g.15297738G>A		NA	Q9UEB3|Q9UPL3|Q9Y6L8	37	CCDS12326.1																																																																																			NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465714.1		-	ENST00000263388.2	Silent	SNP	19 : 15297738 - 15297738 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	226	4
OR6B1	135946	broad.mit.edu	37	7	143701160	143701160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:143701160G>A	ENST00000408922.2	+	1	139	c.71G>A	c.(70-72)cGg>cAg	p.R24Q		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TTGAGTATGCGGGCAGCCATG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	1,3975		0,1,1987	113	106	108		71	1.5	0.1	7		108	0,8356		0,0,4178	no	missense	OR6B1	NM_001005281.1	43	0,1,6165	AA,AG,GG	NA	0.0,0.0252,0.0081	benign	24/312	143701160	1,12331	1988	4178	6166	SO:0001583	missense				CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813	135946	135946		GPCR / Class A : Olfactory receptors	8354	protein-coding gene	gene with protein product					NA		Standard		NM_001005281	NA	Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.71G>A	7.37:g.143701160G>A	ENSP00000386151:p.Arg24Gln	NA	A4D2G2|B9EH47|Q6IFP6|Q96R38	37	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.774575	0.00640	2.52E-4	0.0	ENSG00000221813	ENST00000408922	T	0.00211	8.54	5.37	1.53	0.23141	.	0.295013	0.17555	U	0.170002	T	0.00039	0.0001	N	0.01015	-1.05	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23084	-1.0198	10	0.02654	T	1	.	7.8985	0.29721	0.4139:0.0:0.5861:0.0	.	24	O95007	OR6B1_HUMAN	Q	24	ENSP00000386151:R24Q	ENSP00000386151:R24Q	R	+	2	0	OR6B1	143332093	0.146000	0.22672	0.124000	0.21820	0.227000	0.25037	2.922000	0.48860	0.404000	0.25506	-0.252000	0.11476	CGG	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349566.1		+	ENST00000408922.2	Missense_Mutation	SNP	7 : 143701160 - 143701160 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	395	9
OSBP2	23762	broad.mit.edu	37	22	31285529	31285529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr22:31285529G>A	ENST00000332585.6	+	7	1633	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	OSBP2_ENST00000403222.3_Missense_Mutation_p.R344Q|OSBP2_ENST00000401475.1_Missense_Mutation_p.R143Q|OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000446658.2_Missense_Mutation_p.R509Q|OSBP2_ENST00000535268.1_Missense_Mutation_p.R54Q|OSBP2_ENST00000407373.1_Missense_Mutation_p.R337Q|OSBP2_ENST00000437268.2_Missense_Mutation_p.R252Q	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	510					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTCAAGAGGCGAGTCCGCATT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	142	137			NA	NA	22		NA											NA				31285529		2117	4243	6360	SO:0001583	missense				CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792	23762	23762		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	8504	protein-coding gene	gene with protein product		606729		OSBPL1	NA	10591208, 11278871, 11802775	Standard	NM_030758	NM_001282738	NA	Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1529G>A	22.37:g.31285529G>A	ENSP00000332576:p.Arg510Gln	NA	B0QYG1|O60396|Q9BY96|Q9BZF0	37	CCDS43002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.421409|4.421409	0.83559|0.83559	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000454145;ENST00000453621;ENST00000431368|ENST00000403222;ENST00000407373;ENST00000332585;ENST00000446658;ENST00000401475;ENST00000424224;ENST00000437268;ENST00000535268;ENST00000452656	.|T;T;T;T;T;T;T	.|0.57273	.|0.46;0.46;0.98;1.0;0.52;0.44;0.41	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.061482	.|0.64402	.|D	.|0.000003	T|T	0.62938|0.62938	0.2469|0.2469	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0;0.995;0.995	.|D;D;D;D;P;P	.|0.73708	.|0.979;0.981;0.954;0.981;0.691;0.691	T|T	0.66500|0.66500	-0.5908|-0.5908	5|10	.|0.72032	.|D	.|0.01	-20.1482|-20.1482	18.165|18.165	0.89722|0.89722	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|252;344;252;337;509;510	.|F5H2A3;B4DKE4;B4DK24;Q6ZN50;Q0VF99;Q969R2	.|.;.;.;.;.;OSBP2_HUMAN	K|Q	172;181;182|344;337;510;509;143;144;252;54;141	.|ENSP00000384213:R344Q;ENSP00000385237:R337Q;ENSP00000332576:R510Q;ENSP00000392080:R509Q;ENSP00000385254:R143Q;ENSP00000389200:R252Q;ENSP00000438713:R54Q	.|ENSP00000332576:R510Q	E|R	+|+	1|2	0|0	OSBP2|OSBP2	29615529|29615529	1.000000|1.000000	0.71417|0.71417	0.472000|0.472000	0.27241|0.27241	0.008000|0.008000	0.06430|0.06430	9.601000|9.601000	0.98297|0.98297	2.620000|2.620000	0.88729|0.88729	0.655000|0.655000	0.94253|0.94253	GAG|CGA	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321547.2		+	ENST00000332585.6	Missense_Mutation	SNP	22 : 31285529 - 31285529 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	630	7
OSBPL3	26031	broad.mit.edu	37	7	24874215	24874215	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:24874215G>A	ENST00000313367.2	-	15	2087	c.1636C>T	c.(1636-1638)Ccg>Tcg	p.P546S	OSBPL3_ENST00000409069.1_Missense_Mutation_p.P479S|OSBPL3_ENST00000431825.2_Missense_Mutation_p.P479S|OSBPL3_ENST00000396429.1_Missense_Mutation_p.P510S|OSBPL3_ENST00000353930.1_Missense_Mutation_p.P510S|OSBPL3_ENST00000396431.1_Missense_Mutation_p.P515S|OSBPL3_ENST00000352860.1_Missense_Mutation_p.P515S	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	546					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AGCTCCACCGGCATGGCCACC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	75	80			NA	NA	7		NA											NA				24874215		2203	4300	6503	SO:0001583	missense			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882	26031	26031		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	16370	protein-coding gene	gene with protein product		606732		OSBP3	NA	9734811	Standard		XM_005249698	NA	Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1636C>T	7.37:g.24874215G>A	ENSP00000315410:p.Pro546Ser	NA	A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	37	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311061	0.95629	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.93507	0.7928	H	0.98525	4.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0	D	0.95382	0.8474	10	0.87932	D	0	-19.2119	20.1699	0.98157	0.0:0.0:1.0:0.0	.	479;510;479;515;510;546	Q9H4L5-8;Q9H4L5-7;Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;.;.;OSBL3_HUMAN	S	546;515;510;479;515;510;479	ENSP00000315410:P546S;ENSP00000315331:P515S;ENSP00000315277:P510S;ENSP00000389779:P479S;ENSP00000379708:P515S;ENSP00000379706:P510S;ENSP00000386953:P479S	ENSP00000315410:P546S	P	-	1	0	OSBPL3	24840740	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.799000	0.99117	2.775000	0.95449	0.467000	0.42956	CCG	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214085.2		-	ENST00000313367.2	Missense_Mutation	SNP	7 : 24874215 - 24874215 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	321	5
PCDHA12	56137	broad.mit.edu	37	5	140256671	140256671	+	Silent	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:140256671C>T	ENST00000398631.2	+	1	1614	c.1614C>T	c.(1612-1614)cgC>cgT	p.R538R	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1			protocadherin alpha 12	NA										NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGACGCCGGCG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(113;759 1672 13322 24104 50104)							NA				0													76	84	81			NA	NA	5		NA											NA				140256671		2203	4298	6501	SO:0001819	synonymous_variant			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664	56137	56137		Cadherins / Protocadherins : Clustered	8666	other	complex locus constituent	KIAA0345-like 2	606318			NA	10380929	Standard	NM_018903	NM_018903	NA	Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1614C>T	5.37:g.140256671C>T		NA		37	CCDS47285.1																																																																																			PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372882.2		+	ENST00000398631.2	Silent	SNP	5 : 140256671 - 140256671 T PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	685	8
PCDHA13	56136	broad.mit.edu	37	5	140347636	140347636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:140347636C>T	ENST00000409494.1	+	2	2455				PCDHA10_ENST00000506939.2_Intron|PCDHAC2_ENST00000289269.5_Nonsense_Mutation_p.R429*|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031865.1	NP_114071.1			protocadherin alpha 13	NA										NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCACTGGACCGAGAGCGGGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(147;1739 1852 5500 27947 37288)							NA				0													87	90	89			NA	NA	5		NA											NA				140347636		2203	4300	6503	SO:0001627	intron_variant			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389	56136	56136		Cadherins / Protocadherins : Clustered	8667	other	complex locus constituent	KIAA0345-like 1, ortholog of mouse CNR5	606319		CNRS5	NA	10380929, 10662547	Standard	NM_018904	NM_018904	NA	Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000409494.1:c.2395-10898C>T	5.37:g.140347636C>T		NA		37		.	.	.	.	.	.	.	.	.	.	C	41	8.700697	0.98920	.	.	ENSG00000243232	ENST00000289269	.	.	.	5.79	2.46	0.29980	.	0.000000	0.40064	N	0.001194	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4557	0.84012	0.3826:0.6174:0.0:0.0	.	.	.	.	X	429	.	ENSP00000289269:R429X	R	+	1	2	PCDHAC2	140327820	0.745000	0.28261	1.000000	0.80357	0.903000	0.53119	0.052000	0.14163	0.670000	0.31165	0.563000	0.77884	CGA	PCDHA13-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000251809.2		+	ENST00000409494.1	Intron	SNP	5 : 140347636 - 140347636 T PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	434	7
PCDHB11	56125	broad.mit.edu	37	5	140580809	140580809	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:140580809T>C	ENST00000354757.3	+	1	1462	c.1462T>C	c.(1462-1464)Tac>Cac	p.Y488H	PCDHB11_ENST00000536699.1_Missense_Mutation_p.Y123H	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	488	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGGTCAACTACTCGCTACT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	135	135			NA	NA	5		NA											NA				140580809		2203	4300	6503	SO:0001583	missense			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479	56125	56125		Cadherins / Protocadherins : Clustered	8682	other	protocadherin	cadherin ME2	606337			NA	10380929	Standard	NM_018931	NM_018931	NA	Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1462T>C	5.37:g.140580809T>C	ENSP00000346802:p.Tyr488His	NA	Q2M223	37	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	t	18.67	3.674200	0.67928	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.62941	-0.01;-0.01	2.51	2.51	0.30379	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85665	0.5749	H	0.99058	4.415	0.37148	D	0.902036	D	0.89917	1.0	D	0.97110	1.0	D	0.89861	0.4016	9	0.87932	D	0	.	10.4143	0.44311	0.0:0.0:0.0:1.0	.	488	Q9Y5F2	PCDBB_HUMAN	H	123;488	ENSP00000440344:Y123H;ENSP00000346802:Y488H	ENSP00000346802:Y488H	Y	+	1	0	PCDHB11	140560993	0.783000	0.28701	0.930000	0.37139	0.067000	0.16453	2.392000	0.44433	1.160000	0.42584	0.248000	0.18094	TAC	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251813.1		+	ENST00000354757.3	Missense_Mutation	SNP	5 : 140580809 - 140580809 C PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	770	18
PIK3CA	5290	broad.mit.edu	37	3	178951974	178951974	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:178951974T>C	ENST00000263967.3	+	21	3186	c.3029T>C	c.(3028-3030)aTg>aCg	p.M1010T		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1010	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GGCTCTGGAATGCCAGAACTA	0.383		57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	phosphoinositide-3-kinase, catalytic, alpha polypeptide		E, O	0													112	100	104			NA	NA	3		NA											NA				178951974		1881	4111	5992	SO:0001583	missense				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	5290	5290	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	phosphoinositide-3-kinase, catalytic, alpha polypeptide		NA	1322797	Standard		NM_006218	NA	Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3029T>C	3.37:g.178951974T>C	ENSP00000263967:p.Met1010Thr	NA	Q14CW1|Q99762	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.485678	0.44147	.	.	ENSG00000121879	ENST00000263967	T	0.81247	-1.47	6.07	6.07	0.98685	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.78528	0.4297	L	0.50333	1.59	0.80722	D	1	P	0.41784	0.762	B	0.39935	0.314	T	0.81230	-0.1027	10	0.87932	D	0	-19.3218	16.635	0.85050	0.0:0.0:0.0:1.0	.	1010	P42336	PK3CA_HUMAN	T	1010	ENSP00000263967:M1010T	ENSP00000263967:M1010T	M	+	2	0	PIK3CA	180434668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.510000	0.81708	2.330000	0.79161	0.477000	0.44152	ATG	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348409.2		+	ENST00000263967.3	Missense_Mutation	SNP	3 : 178951974 - 178951974 C PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	354	7
PLCB4	5332	broad.mit.edu	37	20	9317832	9317832	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr20:9317832G>A	ENST00000378501.2	+	2	159	c.144G>A	c.(142-144)ctG>ctA	p.L48L	PLCB4_ENST00000378473.3_Silent_p.L48L|PLCB4_ENST00000334005.3_Silent_p.L48L|PLCB4_ENST00000278655.4_Silent_p.L48L|PLCB4_ENST00000414679.2_Silent_p.L48L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Silent_p.L48L	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	48					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GCTTCTTTCTGACATGGAGAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	116	121			NA	NA	20		NA											NA				9317832		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	5332	5332	3.1.4.11		9059	protein-coding gene	gene with protein product		600810			NA	8530101	Standard		NM_000933	NA	Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378501.2:c.144G>A	20.37:g.9317832G>A		NA	B7ZLK6|Q17R56|Q5JYS8|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	37	CCDS13104.1																																																																																			PLCB4-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077958.2		+	ENST00000378501.2	Silent	SNP	20 : 9317832 - 9317832 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	432	8
PTPRS	5802	broad.mit.edu	37	19	5210482	5210482	+	Missense_Mutation	SNP	G	G	A	rs147647579		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:5210482G>A	ENST00000587303.1	-	34	5584	c.5485C>T	c.(5485-5487)Cgg>Tgg	p.R1829W	PTPRS_ENST00000372412.4_Missense_Mutation_p.R1830W|PTPRS_ENST00000592099.1_Missense_Mutation_p.R1382W|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1829W|PTPRS_ENST00000353284.2_Missense_Mutation_p.R1382W|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1791W|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1809W|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Missense_Mutation_p.R1791W			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1829	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TCACTCACCCGGGCATCTGTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	112	104	107		5485,4144,5371,4156	-0.2	1	19	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	101,101,101,101	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1829/1949,1382/1502,1791/1911,1386/1506	5210482	1,13005	2203	4300	6503	SO:0001583	missense			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426	5802	5802		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9681	protein-coding gene	gene with protein product		601576			NA	8954782, 8524829	Standard		NM_002850	NA	Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5485C>T	19.37:g.5210482G>A	ENSP00000467537:p.Arg1829Trp	NA	O75255|O75870|Q15718|Q16341|Q2M3R7	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	g	15.03	2.713599	0.48517	0.0	1.16E-4	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	2.31	-0.225	0.13111	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.084158	0.45361	U	0.000376	T	0.37679	0.1012	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;0.995;1.0;1.0;0.999;0.999	P;P;D;P;D;D	0.91635	0.889;0.634;0.999;0.865;0.912;0.958	T	0.25745	-1.0123	10	0.87932	D	0	.	9.6749	0.40034	0.0:0.0:0.2921:0.7079	.	1411;1382;1386;1791;1829;1424	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	W	1424;1830;1829;1829;1820;1809;1791;1411;1386;1382	ENSP00000361489:R1830W;ENSP00000349932:R1829W;ENSP00000262963:R1809W;ENSP00000269907:R1791W;ENSP00000327313:R1382W	ENSP00000262963:R1809W	R	-	1	2	PTPRS	5161482	1.000000	0.71417	0.995000	0.50966	0.718000	0.41266	1.922000	0.40045	-0.096000	0.12329	0.486000	0.48141	CGG	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450762.2		-	ENST00000587303.1	Missense_Mutation	SNP	19 : 5210482 - 5210482 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	462	11
SLC38A8	146167	broad.mit.edu	37	16	84050178	84050178	+	Missense_Mutation	SNP	C	C	T	rs149742482	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:84050178C>T	ENST00000299709.3	-	8	1107	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	370					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGACGATCTCGCTGAGGTCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LYS/GLU	0,4400		0,0,2200	91	76	81		1108	-1.1	0.5	16	dbSNP_134	81	2,8598	2.2+/-6.3	0,2,4298	no	missense	SLC38A8	NM_001080442.1	56	0,2,6498	TT,TC,CC	NA	0.0233,0.0,0.0154	benign	370/436	84050178	2,12998	2200	4300	6500	SO:0001583	missense				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558	146167	146167		Solute carriers	32434	protein-coding gene	gene with protein product		615585			NA		Standard	NM_001080442	XM_006721135	NA	Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.1108G>A	16.37:g.84050178C>T	ENSP00000299709:p.Glu370Lys	NA		37	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.414452	0.01145	0.0	2.33E-4	ENSG00000166558	ENST00000299709	T	0.02067	4.47	4.47	-1.14	0.09741	.	0.554792	0.19437	N	0.114283	T	0.01092	0.0036	N	0.14661	0.345	0.36854	D	0.88807	B	0.23540	0.087	B	0.21360	0.034	T	0.49934	-0.8886	10	0.05833	T	0.94	.	5.3489	0.16024	0.0:0.4325:0.1427:0.4248	.	370	A6NNN8	S38A8_HUMAN	K	370	ENSP00000299709:E370K	ENSP00000299709:E370K	E	-	1	0	SLC38A8	82607679	0.135000	0.22499	0.486000	0.27416	0.168000	0.22595	0.078000	0.14761	-0.231000	0.09825	0.478000	0.44815	GAG	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432623.1		-	ENST00000299709.3	Missense_Mutation	SNP	16 : 84050178 - 84050178 T PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	245	13
SPATA31D1	389763	broad.mit.edu	37	9	84607903	84607903	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr9:84607903G>A	ENST00000344803.2	+	4	2565	c.2518G>A	c.(2518-2520)Gaa>Aaa	p.E840K		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1	NA											NA						GAAATTTGAGGAAATCAATGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	85	88			NA	NA	9		NA											NA				84607903		1874	4101	5975	SO:0001583	missense				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929	389763	389763			37283	protein-coding gene	gene with protein product			family with sequence similarity 75, member D1	FAM75D1	NA		Standard	NM_001001670	NM_001001670	NA	Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2518G>A	9.37:g.84607903G>A	ENSP00000341988:p.Glu840Lys	NA		37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119845	0.37436	.	.	ENSG00000214929	ENST00000344803	T	0.08458	3.09	2.7	-2.15	0.07102	.	1.074330	0.07204	N	0.858027	T	0.08802	0.0218	M	0.64404	1.975	0.09310	N	1	P	0.35542	0.508	B	0.36845	0.234	T	0.34004	-0.9846	10	0.66056	D	0.02	-3.9222	0.5637	0.00683	0.2548:0.2456:0.3205:0.1792	.	840	Q6ZQQ2	F75D1_HUMAN	K	840	ENSP00000341988:E840K	ENSP00000341988:E840K	E	+	1	0	FAM75D1	83797723	0.297000	0.24408	0.003000	0.11579	0.003000	0.03518	0.083000	0.14871	-0.473000	0.06871	-0.253000	0.11424	GAA	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402325.1		+	ENST00000344803.2	Missense_Mutation	SNP	9 : 84607903 - 84607903 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	279	5
TERT	7015	broad.mit.edu	37	5	1282622	1282622	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:1282622G>A	ENST00000310581.5	-	3	1748	c.1691C>T	c.(1690-1692)aCg>aTg	p.T564M	TERT_ENST00000508104.2_Missense_Mutation_p.T564M|TERT_ENST00000334602.6_Missense_Mutation_p.T564M|TERT_ENST00000296820.5_Missense_Mutation_p.T564M	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	564					anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGTGGTCTCCGTGACATAAAA	0.532		NA							TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	119	122			NA	NA	5		NA											NA				1282622		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362	NA	7015			11730	protein-coding gene	gene with protein product		187270			NA	9252327	Standard		NM_198253	NA	Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1691C>T	5.37:g.1282622G>A	ENSP00000309572:p.Thr564Met	NA	O14783|Q2XS35|Q8N6C3|Q8NG46	37	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769850	0.49680	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	4.64	4.64	0.57946	Telomerase ribonucleoprotein complex - RNA-binding domain (2);	0.048739	0.85682	N	0.000000	D	0.97810	0.9281	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.99146	1.0857	10	0.87932	D	0	-3.0526	17.5052	0.87743	0.0:0.0:1.0:0.0	.	564;564;564	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	M	564	ENSP00000309572:T564M;ENSP00000296820:T564M;ENSP00000334346:T564M;ENSP00000426042:T564M	ENSP00000296820:T564M	T	-	2	0	TERT	1335622	1.000000	0.71417	0.978000	0.43139	0.722000	0.41435	6.959000	0.76031	2.115000	0.64714	0.462000	0.41574	ACG	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206729.2		-	ENST00000310581.5	Missense_Mutation	SNP	5 : 1282622 - 1282622 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	255	5
TGM1	7051	broad.mit.edu	37	14	24724342	24724342	+	Missense_Mutation	SNP	G	G	A	rs143322085		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:24724342G>A	ENST00000206765.6	-	12	1886	c.1763C>T	c.(1762-1764)gCg>gTg	p.A588V	TGM1_ENST00000544573.1_Missense_Mutation_p.A146V	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	588					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCCCATCACCGCGTCCTGTGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	0,4406		0,0,2203	94	77	83		1763	4.3	0.7	14	dbSNP_134	83	2,8598	2.2+/-6.3	0,2,4298	no	missense	TGM1	NM_000359.2	64	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging	588/818	24724342	2,13004	2203	4300	6503	SO:0001583	missense			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	7051	7051	2.3.2.13	Transglutaminases	11777	protein-coding gene	gene with protein product	K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase	190195	transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)	ICR2	NA	11390390	Standard	NM_000359	NM_000359	NA	Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1763C>T	14.37:g.24724342G>A	ENSP00000206765:p.Ala588Val	NA	Q197M4	37	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253753	0.22965	0.0	2.33E-4	ENSG00000092295	ENST00000206765;ENST00000544573	T;T	0.70399	-0.48;-0.48	5.18	4.28	0.50868	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.572364	0.18241	N	0.147251	T	0.60196	0.2250	L	0.43152	1.355	0.37256	D	0.906752	B	0.11235	0.004	B	0.10450	0.005	T	0.59059	-0.7525	10	0.32370	T	0.25	-16.2109	8.7813	0.34794	0.0819:0.1506:0.7675:0.0	.	588	P22735	TGM1_HUMAN	V	588;146	ENSP00000206765:A588V;ENSP00000439446:A146V	ENSP00000206765:A588V	A	-	2	0	TGM1	23794182	0.226000	0.23696	0.657000	0.29651	0.111000	0.19643	2.213000	0.42844	1.402000	0.46780	0.655000	0.94253	GCG	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073160.6		-	ENST00000206765.6	Missense_Mutation	SNP	14 : 24724342 - 24724342 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	305	7
THRAP3	9967	broad.mit.edu	37	1	36766557	36766557	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:36766557G>A	ENST00000354618.5	+	10	2598	c.2374G>A	c.(2374-2376)Gca>Aca	p.A792T	THRAP3_ENST00000469141.2_Missense_Mutation_p.A792T	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	792					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCCTACAAAGCAGAAGAGTA	0.502		NA	T	USP6	aneurysmal bone cysts									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0													73	71	72			NA	NA	1		NA											NA				36766557		2203	4300	6503	SO:0001583	missense			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118	9967	9967			22964	protein-coding gene	gene with protein product		603809			NA		Standard	NM_005119	NM_005119	NA	Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2374G>A	1.37:g.36766557G>A	ENSP00000346634:p.Ala792Thr	NA	D3DPS5|Q5VTK6	37	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476580	0.84640	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.15718	2.4;2.4	5.4	5.4	0.78164	.	0.074233	0.56097	D	0.000033	T	0.34832	0.0911	L	0.51422	1.61	0.45330	D	0.998325	D	0.64830	0.994	P	0.60173	0.87	T	0.01561	-1.1324	10	0.62326	D	0.03	-4.5675	18.5314	0.90993	0.0:0.0:1.0:0.0	.	792	Q9Y2W1	TR150_HUMAN	T	792	ENSP00000346634:A792T;ENSP00000433825:A792T	ENSP00000346634:A792T	A	+	1	0	THRAP3	36539144	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.957000	0.87870	2.705000	0.92388	0.650000	0.86243	GCA	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021688.2		+	ENST00000354618.5	Missense_Mutation	SNP	1 : 36766557 - 36766557 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	255	5
TNFRSF10A	8797	broad.mit.edu	37	8	23054711	23054711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr8:23054711C>T	ENST00000221132.3	-	9	1085	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	341					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TCAGCTTCTGCCGGTCCCTGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	120	126			NA	NA	8		NA											NA				23054711		2203	4300	6503	SO:0001583	missense			U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689	8797	8797		Tumor necrosis factor receptor superfamily, CD molecules	11904	protein-coding gene	gene with protein product		603611			NA	9311998, 9082980	Standard	NM_003844	NM_003844	NA	Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.1021G>A	8.37:g.23054711C>T	ENSP00000221132:p.Ala341Thr	NA	A8K5I4|Q53Y72|Q96E62	37	CCDS6039.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263348	0.39995	.	.	ENSG00000104689	ENST00000221132	D	0.85013	-1.93	2.81	0.762	0.18454	.	7.483190	0.00772	U	0.001204	D	0.90356	0.6982	M	0.67397	2.05	0.09310	N	1	D	0.89917	1.0	D	0.69307	0.963	T	0.70132	-0.4956	10	0.72032	D	0.01	.	4.3919	0.11344	0.0:0.5647:0.2773:0.158	.	341	O00220	TR10A_HUMAN	T	341	ENSP00000221132:A341T	ENSP00000221132:A341T	A	-	1	0	TNFRSF10A	23110656	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.658000	0.05329	0.023000	0.15187	0.491000	0.48974	GCA	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215133.2		-	ENST00000221132.3	Missense_Mutation	SNP	8 : 23054711 - 23054711 T PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	419	5
TRRAP	8295	broad.mit.edu	37	7	98573795	98573795	+	Silent	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:98573795C>T	ENST00000446306.3	+	51	7849	c.7788C>T	c.(7786-7788)ttC>ttT	p.F2596F	TRRAP_ENST00000355540.3_Silent_p.F2596F|TRRAP_ENST00000359863.4_Silent_p.F2614F			Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2614					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCAGCGCTTTCGTTCAGCTGT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	100	104			NA	NA	7		NA											NA				98573795		2203	4300	6503	SO:0001819	synonymous_variant			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367	8295	8295			12347	protein-coding gene	gene with protein product		603015			NA	9708738, 9885574	Standard	NM_003496	NM_003496	NA	Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000446306.3:c.7788C>T	7.37:g.98573795C>T		NA	A4D265|O75218|Q9Y631|Q9Y6H4	37		.	.	.	.	.	.	.	.	.	.	C	10.21	1.287598	0.23478	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.06	0.591	0.17465	.	.	.	.	.	T	0.57917	0.2086	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50508	-0.8820	4	.	.	.	.	9.9707	0.41752	0.0:0.372:0.0:0.628	.	.	.	.	L	2336	.	.	S	+	2	0	TRRAP	98411731	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	0.961000	0.29267	-0.129000	0.11620	-0.345000	0.07892	TCG	TRRAP-004	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000317981.3		+	ENST00000446306.3	Silent	SNP	7 : 98573795 - 98573795 T PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	389	13
TSPAN8	7103	broad.mit.edu	37	12	71519132	71519132	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr12:71519132G>A	ENST00000393330.2	-	12	1248	c.696C>T	c.(694-696)tgC>tgT	p.C232C	TSPAN8_ENST00000247829.3_Silent_p.C232C|TSPAN8_ENST00000552128.1_Silent_p.C149C|TSPAN8_ENST00000546561.1_Silent_p.C232C			P19075	TSN8_HUMAN	tetraspanin 8	232					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TCCCGATCTGGCAATACAGGA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	119	122			NA	NA	12		NA											NA				71519132		2203	4300	6503	SO:0001819	synonymous_variant			M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324	7103	7103		Tetraspanins	11855	protein-coding gene	gene with protein product		600769	transmembrane 4 superfamily member 3	TM4SF3	NA	2395876	Standard	NM_004616	NM_004616	NA	Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.696C>T	12.37:g.71519132G>A		NA	B2R7T7|Q9BS78	37	CCDS8999.1																																																																																			TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404737.1		-	ENST00000393330.2	Silent	SNP	12 : 71519132 - 71519132 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	533	6
TTC17	55761	broad.mit.edu	37	11	43419628	43419628	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:43419628G>A	ENST00000039989.4	+	8	1037	c.1023G>A	c.(1021-1023)caG>caA	p.Q341Q	TTC17_ENST00000299240.6_Silent_p.Q341Q|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	341							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCCTATGTCAGCAAAAACTGG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	120	124			NA	NA	11		NA											NA				43419628		2203	4300	6503	SO:0001819	synonymous_variant			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841	55761	55761		Tetratricopeptide (TTC) repeat domain containing	25596	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018259	NM_018259	NA	Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1023G>A	11.37:g.43419628G>A		NA		37	CCDS31466.1																																																																																			TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389577.2		+	ENST00000039989.4	Silent	SNP	11 : 43419628 - 43419628 A PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	280	5
UGT2B17	7367	broad.mit.edu	37	4	69403349	69403349	+	Silent	SNP	C	C	T	rs146629248	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr4:69403349C>T	ENST00000317746.2	-	6	1629	c.1587G>A	c.(1585-1587)agG>agA	p.R529R		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	529					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.R529R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						ATAACTAATCCCTTTTCTTCT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(18;649 833 28984 37818 38500)							NA				2	Substitution - coding silent(2)	lung(1)|endometrium(1)											82	79	80			NA	NA	4		NA											NA				69403349		2114	4002	6116	SO:0001819	synonymous_variant			U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888	7367	7367		UDP glucuronosyltransferases	12547	protein-coding gene	gene with protein product		601903	UDP glycosyltransferase 2 family, polypeptide B17		NA	8798464	Standard	NM_001077	NM_001077	NA	Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1587G>A	4.37:g.69403349C>T		NA		37	CCDS3523.1																																																																																			UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251436.1		-	ENST00000317746.2	Silent	SNP	4 : 69403349 - 69403349 T PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	755	8
VAV1	7409	broad.mit.edu	37	19	6857088	6857088	+	Silent	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:6857088C>T	ENST00000304076.2	+	26	2536	c.2442C>T	c.(2440-2442)taC>taT	p.Y814Y	VAV1_ENST00000596764.1_Silent_p.Y804Y|VAV1_ENST00000599806.1_Silent_p.Y781Y|VAV1_ENST00000602142.1_Silent_p.Y836Y|VAV1_ENST00000539284.1_Silent_p.Y739Y	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	836	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CTGCCAACTACGTGGAGGAAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	141	160			NA	NA	19		NA											NA				6857088		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968	7409	7409		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing, SH2 domain containing	12657	protein-coding gene	gene with protein product		164875	vav 1 oncogene	VAV	NA	9438848	Standard		NM_005428	NA	Approved		uc010xjh.2	P15498		ENST00000304076.2:c.2442C>T	19.37:g.6857088C>T		NA	Q15860	37	CCDS59341.1																																																																																			VAV1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458474.1		+	ENST00000304076.2	Silent	SNP	19 : 6857088 - 6857088 T PAAD-TCGA-IB-AAUS-Tumor-SM-5W7V1	190	5
