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
ACOT11	26027	broad.mit.edu	37	1	55062956	55062956	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:55062956G>A	ENST00000371316.3	+	7	714	c.632G>A	c.(631-633)cGc>cAc	p.R211H	ACOT11_ENST00000343744.2_Missense_Mutation_p.R211H|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	211	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	p.R211H(2)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GACTGTAGCCGCATGGTGCCG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(148;1440 1861 22015 32453 51933)							NA				2	Substitution - Missense(2)	lung(2)											66	54	58			NA	NA	1		NA											NA				55062956		2203	4300	6503	SO:0001583	missense			AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	26027	26027	3.1.2.-	Acyl CoA thioesterases, StAR-related lipid transfer (START) domain containing	18156	protein-coding gene	gene with protein product	StAR-related lipid transfer (START) domain containing 14	606803	thioesterase, adipose associated	THEA	NA	11696000, 16103133, 16940157	Standard	NM_015547	NM_015547	NA	Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.632G>A	1.37:g.55062956G>A	ENSP00000360366:p.Arg211His	NA	B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	37	CCDS592.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273318	0.23221	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.10573	2.88;2.86	4.93	-7.81	0.01210	.	1.969230	0.02401	N	0.080685	T	0.06872	0.0175	L	0.34521	1.04	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.003	T	0.27606	-1.0069	10	0.44086	T	0.13	-24.5333	2.1472	0.03790	0.4433:0.0829:0.2566:0.2172	.	211;211	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	H	211	ENSP00000340260:R211H;ENSP00000360366:R211H	ENSP00000340260:R211H	R	+	2	0	ACOT11	54835544	0.000000	0.05858	0.016000	0.15963	0.557000	0.35523	-2.496000	0.00970	-1.568000	0.01670	-1.808000	0.00615	CGC	ACOT11-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027356.1		+	ENST00000371316.3	Missense_Mutation	SNP	1 : 55062956 - 55062956 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	173	6
ACTA1	58	broad.mit.edu	37	1	229568336	229568336	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:229568336C>T	ENST00000366684.3	-	3	523	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	141					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	AGGGACAGCACGGCCTGGATG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	53	53			NA	NA	1		NA											NA				229568336		2203	4298	6501	SO:0001583	missense			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632	58	58			129	protein-coding gene	gene with protein product	nemaline myopathy type 3	102610		ACTA	NA	10072583, 6865942	Standard	NM_001100	NM_001100	NA	Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.421G>A	1.37:g.229568336C>T	ENSP00000355645:p.Val141Met	NA	P02568|P99020|Q5T8M9	37	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444060	0.43429	.	.	ENSG00000143632	ENST00000366684;ENST00000366682;ENST00000342787	D	0.96136	-3.92	4.54	4.54	0.55810	.	0.000000	0.64402	D	0.000001	D	0.97838	0.9290	H	0.96111	3.77	0.80722	D	1	P	0.41475	0.751	P	0.49332	0.607	D	0.99867	1.1091	10	0.87932	D	0	.	17.4768	0.87661	0.0:1.0:0.0:0.0	.	141	P68133	ACTS_HUMAN	M	141;106;141	ENSP00000355645:V141M	ENSP00000344142:V141M	V	-	1	0	ACTA1	227634959	1.000000	0.71417	0.998000	0.56505	0.419000	0.31324	7.620000	0.83070	2.360000	0.80028	0.655000	0.94253	GTG	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092781.1		-	ENST00000366684.3	Missense_Mutation	SNP	1 : 229568336 - 229568336 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	493	81
ADAMTSL1	92949	broad.mit.edu	37	9	18777015	18777015	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:18777015G>A	ENST00000380548.4	+	19	3127	c.2788G>A	c.(2788-2790)Ggc>Agc	p.G930S		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	930	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGCCCCCTTCGGCTATCTCAA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	50	48			NA	NA	9		NA											NA				18777015		2049	4205	6254	SO:0001583	missense			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031	92949	92949		Immunoglobulin superfamily / I-set domain containing	14632	protein-coding gene	gene with protein product	punctin	609198	chromosome 9 open reading frame 94	C9orf94	NA	9628581, 11805097	Standard		NM_001040272	NA	Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2788G>A	9.37:g.18777015G>A	ENSP00000369921:p.Gly930Ser	NA	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	g	17.01	3.279858	0.59758	.	.	ENSG00000178031	ENST00000380548	T	0.73469	-0.75	5.53	4.64	0.57946	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.719030	0.08080	U	1.000000	D	0.85630	0.5741	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.64877	0.93	T	0.79303	-0.1859	10	0.62326	D	0.03	.	14.6057	0.68478	0.0701:0.0:0.9299:0.0	.	930	Q8N6G6	ATL1_HUMAN	S	930	ENSP00000369921:G930S	ENSP00000369921:G930S	G	+	1	0	ADAMTSL1	18767015	1.000000	0.71417	0.881000	0.34555	0.031000	0.12232	9.551000	0.98112	1.350000	0.45770	-0.355000	0.07637	GGC	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401206.1		+	ENST00000380548.4	Missense_Mutation	SNP	9 : 18777015 - 18777015 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	354	46
ADCY8	114	broad.mit.edu	37	8	132051844	132051844	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr8:132051844C>T	ENST00000286355.5	-	1	2828	c.736G>A	c.(736-738)Ggc>Agc	p.G246S	ADCY8_ENST00000377928.3_Missense_Mutation_p.G246S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	246					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTGACCACGCCGCTGTACTGC	0.637		NA								HNSCC(32;0.087)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	46	49			NA	NA	8		NA											NA				132051844		2203	4300	6503	SO:0001583	missense			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	114	114	4.6.1.1	Adenylate cyclases	239	protein-coding gene	gene with protein product		103070		ADCY3	NA	8076676	Standard		NM_001115	NA	Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.736G>A	8.37:g.132051844C>T	ENSP00000286355:p.Gly246Ser	NA		37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052698	0.55218	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.39406	1.08;1.08	5.46	5.46	0.80206	.	0.131197	0.52532	D	0.000067	T	0.29652	0.0740	N	0.21545	0.675	0.41736	D	0.989582	B;B	0.19817	0.011;0.039	B;B	0.12156	0.004;0.007	T	0.12451	-1.0547	10	0.08179	T	0.78	.	18.2863	0.90115	0.0:1.0:0.0:0.0	.	246;246	E7EVL1;P40145	.;ADCY8_HUMAN	S	246	ENSP00000286355:G246S;ENSP00000367161:G246S	ENSP00000286355:G246S	G	-	1	0	ADCY8	132121026	1.000000	0.71417	0.889000	0.34880	0.907000	0.53573	5.747000	0.68689	2.580000	0.87095	0.455000	0.32223	GGC	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380080.1		-	ENST00000286355.5	Missense_Mutation	SNP	8 : 132051844 - 132051844 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	249	13
ADH1A	124	broad.mit.edu	37	4	100205883	100205883	+	Silent	SNP	A	A	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr4:100205883A>G	ENST00000209668.2	-	4	450	c.337T>C	c.(337-339)Ttg>Ctg	p.L113L	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	113					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TCGTTTTTCAAGCAGTAGTTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	117	118			NA	NA	4		NA											NA				100205883		2203	4300	6503	SO:0001819	synonymous_variant			M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	124	124	1.1.1.1	Alcohol dehydrogenases	249	protein-coding gene	gene with protein product		103700		ADH1	NA	3006456	Standard	NM_000667	NM_000667	NA	Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.337T>C	4.37:g.100205883A>G		NA	A8K3E3|Q17R68	37	CCDS3648.1																																																																																			ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253669.1		-	ENST00000209668.2	Silent	SNP	4 : 100205883 - 100205883 G PAAD-TCGA-IB-7647-Tumor-SM-2NW82	393	56
AKAP11	11215	broad.mit.edu	37	13	42873717	42873717	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr13:42873717A>T	ENST00000025301.2	+	8	1010	c.835A>T	c.(835-837)Agg>Tgg	p.R279W		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	279	Ser-rich.				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTGGACCCAAAGGAGTTTCTA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	82	82			NA	NA	13		NA											NA				42873717		2203	4299	6502	SO:0001583	missense			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516	11215	11215		A-kinase anchor proteins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	369	protein-coding gene	gene with protein product	AKAP 220, A-kinase anchoring protein, 220kDa, protein kinase A anchoring protein 11, protein phosphatase 1, regulatory subunit 44	604696			NA	9734811, 8621616	Standard	NM_016248	NM_016248	NA	Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.835A>T	13.37:g.42873717A>T	ENSP00000025301:p.Arg279Trp	NA	O75124|Q9NUK7	37	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.399892	0.62177	.	.	ENSG00000023516	ENST00000025301	T	0.54675	0.56	5.43	5.43	0.79202	.	0.257696	0.42548	D	0.000687	T	0.49575	0.1565	L	0.51422	1.61	0.29627	N	0.845705	B	0.24426	0.103	B	0.21917	0.037	T	0.53229	-0.8468	10	0.54805	T	0.06	.	15.787	0.78315	1.0:0.0:0.0:0.0	.	279	Q9UKA4	AKA11_HUMAN	W	279	ENSP00000025301:R279W	ENSP00000025301:R279W	R	+	1	2	AKAP11	41771717	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.323000	0.59221	2.197000	0.70478	0.533000	0.62120	AGG	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044700.2		+	ENST00000025301.2	Missense_Mutation	SNP	13 : 42873717 - 42873717 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	671	16
ANK3	288	broad.mit.edu	37	10	61847990	61847990	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:61847990C>G	ENST00000280772.2	-	29	3646	c.3455G>C	c.(3454-3456)gGa>gCa	p.G1152A	ANK3_ENST00000355288.2_Missense_Mutation_p.G286A|ANK3_ENST00000503366.1_Missense_Mutation_p.G1153A|ANK3_ENST00000373827.2_Missense_Mutation_p.G1146A	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	NA					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTCAGAATTCCACCTTCAGG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	133	133			NA	NA	10		NA											NA				61847990		2203	4300	6503	SO:0001583	missense			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150	288	288		Ankyrin repeat domain containing	494	protein-coding gene	gene with protein product	ankyrin-3, node of Ranvier, ankyrin-G	600465			NA	7665168	Standard	NM_020987	NM_020987	NA	Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3455G>C	10.37:g.61847990C>G	ENSP00000280772:p.Gly1152Ala	NA	Q5VXD5	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306184	0.95629	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	6.17	6.17	0.99709	.	0.000000	0.41500	D	0.000864	T	0.62756	0.2454	M	0.90542	3.125	0.80722	D	1	P;D;D;D;D;D;D	0.89917	0.947;1.0;1.0;1.0;0.999;1.0;0.999	P;D;D;D;D;D;D	0.91635	0.878;0.998;0.999;0.999;0.997;0.997;0.996	T	0.67317	-0.5701	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1153;286;685;1146;1152;387;286	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	A	1152;1146;286;286;1153;1132;387;787;787;285;685	ENSP00000280772:G1152A;ENSP00000362933:G1146A;ENSP00000347436:G286A;ENSP00000425236:G1153A	ENSP00000280772:G1152A	G	-	2	0	ANK3	61517996	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.466000	0.80914	2.941000	0.99782	0.655000	0.94253	GGA	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048201.4		-	ENST00000280772.2	Missense_Mutation	SNP	10 : 61847990 - 61847990 G PAAD-TCGA-IB-7647-Tumor-SM-2NW82	617	75
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R					ankyrin repeat domain 36C	NA								p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				9	Substitution - Missense(9)	kidney(6)|lung(3)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501	400986	400986		Ankyrin repeat domain containing	32946	protein-coding gene	gene with protein product	protein immuno-reactive with anti-PTH polyclonal antibodies				NA		Standard	NM_001010914	XR_251121	NA	Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4232A>G	2.37:g.96521777T>C	ENSP00000403302:p.His1411Arg	NA		37		.	.	.	.	.	.	.	.	.	.	t	1.211	-0.629664	0.03610	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.13196	2.61;2.61;2.61	1.87	0.665	0.17896	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.15870	0.014	T	0.42666	-0.9438	9	0.15952	T	0.53	.	1.8453	0.03158	0.2739:0.1735:0.0:0.5526	.	1411	Q5JPF3	AN36C_HUMAN	R	662;1411;438	ENSP00000415231:H662R;ENSP00000403302:H1411R;ENSP00000407838:H438R	ENSP00000407838:H438R	H	-	2	0	AC073995.2	95885504	1.000000	0.71417	0.011000	0.14972	0.003000	0.03518	1.050000	0.30404	0.187000	0.20147	-0.818000	0.03119	CAT	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000338799.2		-	ENST00000456556.1	Missense_Mutation	SNP	2 : 96521777 - 96521777 C PAAD-TCGA-IB-7647-Tumor-SM-2NW82	254	7
AQP8	343	broad.mit.edu	37	16	25232853	25232853	+	Silent	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:25232853G>A	ENST00000219660.5	+	3	461	c.336G>A	c.(334-336)ccG>ccA	p.P112P	AQP8_ENST00000566125.1_Silent_p.P106P	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	112					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		TGCTCCTCCCGTACTGGGTCT	0.627		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	0.0061	SNP								NA				0													96	86	89			NA	NA	16		NA											NA				25232853		2197	4300	6497	SO:0001819	synonymous_variant			BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375	343	343		Ion channels / Aquaporins	642	protein-coding gene	gene with protein product		603750			NA	9806845, 10393433	Standard	NM_001169	NM_001169	NA	Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.336G>A	16.37:g.25232853G>A		NA	Q8IUU3|Q9UIA4	37	CCDS10626.1																																																																																			AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214102.2		+	ENST00000219660.5	Silent	SNP	16 : 25232853 - 25232853 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	457	7
BCKDHA	593	broad.mit.edu	37	19	41928085	41928085	+	Silent	SNP	C	C	T	rs151227241		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:41928085C>T	ENST00000269980.2	+	6	1031	c.663C>T	c.(661-663)taC>taT	p.Y221Y	BCKDHA_ENST00000457836.2_Silent_p.Y199Y|BCKDHA_ENST00000595085.1_Silent_p.Y255Y|CTC-435M10.3_ENST00000540732.1_Silent_p.Y255Y|BCKDHA_ENST00000535632.1_3'UTR	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	221					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGGCGGCGTACGCAGCCAAGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,4406		0,0,2203	36	33	34		663,663	-8.9	0.3	19	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	BCKDHA	NM_000709.3,NM_001164783.1	,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,	221/446,221/445	41928085	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098	593	593			986	protein-coding gene	gene with protein product	maple syrup urine disease	608348	branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease), 2-oxoisovalerate dehydrogenase (lipoamide)	OVD1A	NA		Standard	NM_000709	NM_000709	NA	Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.663C>T	19.37:g.41928085C>T		NA	Q16034|Q16472	37	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	C	1.529	-0.544937	0.04024	0.0	1.16E-4	ENSG00000248098	ENST00000541315	.	.	.	4.85	-8.87	0.00792	.	.	.	.	.	T	0.64461	0.2600	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72304	-0.4333	4	.	.	.	-19.325	17.7578	0.88455	0.0:0.1167:0.0:0.8833	.	.	.	.	M	188	.	.	T	+	2	0	BCKDHA	46619925	0.000000	0.05858	0.295000	0.24960	0.242000	0.25591	-2.269000	0.01168	-1.955000	0.01023	-1.202000	0.01658	ACG	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398313.3		+	ENST00000269980.2	Silent	SNP	19 : 41928085 - 41928085 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	180	7
BRINP1	1620	broad.mit.edu	37	9	121929366	121929366	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:121929366C>A	ENST00000265922.3	-	8	2743	c.2282G>T	c.(2281-2283)tGc>tTc	p.C761F	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2			bone morphogenetic protein/retinoic acid inducible neural-specific 1	761								p.C761Y(1)			NA						CCCGGGTTAGCAGAGTTTGGC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											212	205	208			NA	NA	9		NA											NA				121929366		2203	4300	6503	SO:0001583	missense			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725	1620	1620			2687	protein-coding gene	gene with protein product		602865	deleted in bladder cancer chromosome region candidate 1, deleted in bladder cancer 1	DBCCR1, DBC1	NA	9175739, 10444335, 15193422	Standard	NM_014618	NM_014618	NA	Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.2282G>T	9.37:g.121929366C>A	ENSP00000265922:p.Cys761Phe	NA		37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836126	0.71373	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.25414	1.8	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	L	0.41492	1.28	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.22730	-1.0208	10	0.87932	D	0	.	19.5154	0.95162	0.0:1.0:0.0:0.0	.	761	O60477	DBC1_HUMAN	F	761	ENSP00000265922:C761F	ENSP00000265922:C761F	C	-	2	0	DBC1	120969187	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.786000	0.85741	2.937000	0.99478	0.650000	0.86243	TGC	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055440.2		-	ENST00000265922.3	Missense_Mutation	SNP	9 : 121929366 - 121929366 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	833	10
CACNA1E	777	broad.mit.edu	37	1	181732595	181732595	+	Silent	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:181732595C>T	ENST00000526775.1	+	33	4851	c.4686C>T	c.(4684-4686)gcC>gcT	p.A1562A	CACNA1E_ENST00000367567.4_Silent_p.A1188A|CACNA1E_ENST00000367573.2_Silent_p.A1581A|CACNA1E_ENST00000367570.1_Silent_p.A1581A|CACNA1E_ENST00000358338.5_Silent_p.A1513A|CACNA1E_ENST00000360108.3_Silent_p.A1562A|CACNA1E_ENST00000357570.5_Silent_p.A1532A	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1581					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCGAGCTGCCCGCCTCATAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	82	83			NA	NA	1		NA											NA				181732595		1861	4100	5961	SO:0001819	synonymous_variant			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216	777	777		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1392	protein-coding gene	gene with protein product		601013		CACNL1A6	NA	8388125, 16382099	Standard	NM_000721	NM_001205293	NA	Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000526775.1:c.4686C>T	1.37:g.181732595C>T		NA	B1AM12|B1AM13|B1AM14|Q14580|Q14581	37	CCDS55665.1																																																																																			CACNA1E-002	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090792.2		+	ENST00000526775.1	Silent	SNP	1 : 181732595 - 181732595 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	279	8
CAPS2	84698	broad.mit.edu	37	12	75687069	75687069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:75687069G>A	ENST00000393284.3	-	12	1085	c.484C>T	c.(484-486)Cga>Tga	p.R162*	CAPS2_ENST00000442339.2_5'UTR|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Nonsense_Mutation_p.R312*|CAPS2_ENST00000409445.3_Nonsense_Mutation_p.R394*			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	394							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TTTGTGATTCGGAGTTTAAGT	0.318		NA											G	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9135	EXOME	NA	NA	5e-04	SNP								NA				0													125	114	118			NA	NA	12		NA											NA				75687069		2203	4300	6503	SO:0001587	stop_gained			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881	84698	84698		EF-hand domain containing	16471	protein-coding gene	gene with protein product		607724	calcyphosphine 2		NA	11846421	Standard		NM_032606	NA	Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000393284.3:c.484C>T	12.37:g.75687069G>A	ENSP00000376963:p.Arg162*	NA	Q6PH84|Q8N242|Q8NAY5	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.2	4.110650	0.77210	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284	.	.	.	4.6	4.6	0.57074	.	0.130292	0.34245	N	0.004139	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0574	8.339	0.32232	0.0819:0.0:0.7645:0.1536	.	.	.	.	X	312;394;130;162	.	ENSP00000367975:R130X	R	-	1	2	CAPS2	73973336	1.000000	0.71417	0.988000	0.46212	0.091000	0.18340	3.286000	0.51724	2.282000	0.76494	0.446000	0.29264	CGA	CAPS2-009	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000383833.2		-	ENST00000393284.3	Nonsense_Mutation	SNP	12 : 75687069 - 75687069 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	275	11
CDK12	51755	broad.mit.edu	37	17	37687333	37687333	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:37687333C>G	ENST00000447079.4	+	14	4270	c.4237C>G	c.(4237-4239)Cac>Gac	p.H1413D	CDK12_ENST00000430627.2_Missense_Mutation_p.H1404D	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1413					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTTAGCGTTACACCCGGTGGT	0.582		NA	Mis, N, F		serous ovarian					TCGA Ovarian(9;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													70	74	73			NA	NA	17		NA											NA				37687333		2203	4300	6503	SO:0001583	missense			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258	51755	51755		Cyclin-dependent kinases	24224	protein-coding gene	gene with protein product	CDC2 related protein kinase 7	615514	Cdc2-related kinase, arginine/serine-rich	CRKRS	NA	10048485, 11683387, 19884882	Standard	NM_016507	XM_005257456	NA	Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.4237C>G	17.37:g.37687333C>G	ENSP00000398880:p.His1413Asp	NA	A7E2B2|B4DYX4|B9EIQ6|O94978	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136315	0.37728	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.69435	-0.37;-0.4	5.34	5.34	0.76211	.	0.124406	0.36665	N	0.002461	T	0.50922	0.1644	N	0.08118	0	0.42641	D	0.99341	P;P	0.40476	0.596;0.718	B;B	0.38803	0.146;0.282	T	0.61143	-0.7122	10	0.62326	D	0.03	-4.3884	18.8418	0.92188	0.0:1.0:0.0:0.0	.	1413;1404	Q9NYV4;Q9NYV4-2	CDK12_HUMAN;.	D	1404;1413	ENSP00000407720:H1404D;ENSP00000398880:H1413D	ENSP00000407720:H1404D	H	+	1	0	CDK12	34940859	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.938000	0.48987	2.775000	0.95449	0.650000	0.86243	CAC	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256941.4		+	ENST00000447079.4	Missense_Mutation	SNP	17 : 37687333 - 37687333 G PAAD-TCGA-IB-7647-Tumor-SM-2NW82	348	8
CELSR3	1951	broad.mit.edu	37	3	48677669	48677669	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:48677669G>A	ENST00000164024.4	-	34	9629	c.9349C>T	c.(9349-9351)Cgg>Tgg	p.R3117W	CELSR3_ENST00000544264.1_Missense_Mutation_p.R3122W	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3117					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGCTGCCCCGATCTTTGGGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	39	37			NA	NA	3		NA											NA				48677669		2202	4294	6496	SO:0001583	missense			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300	1951	1951		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3230	protein-coding gene	gene with protein product	flamingo homolog 1 (Drosophila)	604264	cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog	EGFL1	NA	9693030	Standard	NM_001407	NM_001407	NA	Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9349C>T	3.37:g.48677669G>A	ENSP00000164024:p.Arg3117Trp	NA	O75092	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207667	0.58343	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.72167	-0.63;-0.62	4.72	2.78	0.32641	.	.	.	.	.	T	0.71065	0.3296	N	0.19112	0.55	0.29159	N	0.877919	D;D;D	0.89917	0.999;0.999;1.0	P;P;P	0.62885	0.9;0.798;0.908	T	0.67534	-0.5646	9	0.72032	D	0.01	.	12.7798	0.57471	0.0:0.0:0.6916:0.3084	.	3122;3117;3215	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	W	3117;3122	ENSP00000164024:R3117W;ENSP00000445694:R3122W	ENSP00000164024:R3117W	R	-	1	2	CELSR3	48652673	0.936000	0.31750	0.981000	0.43875	0.483000	0.33249	1.494000	0.35616	0.333000	0.23563	0.484000	0.47621	CGG	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257523.1		-	ENST00000164024.4	Missense_Mutation	SNP	3 : 48677669 - 48677669 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	292	39
COX7B2	170712	broad.mit.edu	37	4	46736995	46736995	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr4:46736995C>T	ENST00000396533.1	-	4	465	c.215G>A	c.(214-216)aGa>aAa	p.R72K	COX7B2_ENST00000302930.5_Missense_Mutation_p.R72K|COX7B2_ENST00000355591.3_Missense_Mutation_p.R72K|COX7B2_ENST00000543208.1_Missense_Mutation_p.R71K			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	72						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	p.R71I(1)		large_intestine(1)|lung(4)	5						TGGGGTAACTCTGCCAACAGG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											112	100	104			NA	NA	4		NA											NA				46736995		2203	4300	6503	SO:0001583	missense			AF125109	CCDS3472.2	4p12	2011-07-04			ENSG00000170516	ENSG00000170516	170712	170712		Mitochondrial respiratory chain complex / Complex IV	24381	protein-coding gene	gene with protein product		609811			NA	15623157	Standard	NM_130902	NM_130902	NA	Approved		uc003gxf.3	Q8TF08	OTTHUMG00000099423	ENST00000396533.1:c.215G>A	4.37:g.46736995C>T	ENSP00000379784:p.Arg72Lys	NA	Q32Q40	37	CCDS3472.2	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574133	0.65765	.	.	ENSG00000170516	ENST00000355591;ENST00000396533;ENST00000302930;ENST00000543208	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.57	4.57	0.56435	Cytochrome C oxidase, subunit VIIB, domain (2);	0.057494	0.64402	D	0.000001	T	0.56031	0.1958	.	.	.	0.28946	N	0.890717	D	0.76494	0.999	D	0.85130	0.997	T	0.46555	-0.9183	9	0.24483	T	0.36	-8.9049	13.1628	0.59554	0.0:1.0:0.0:0.0	.	72	Q8TF08	CX7B2_HUMAN	K	72;72;72;71	ENSP00000347799:R72K;ENSP00000379784:R72K;ENSP00000305964:R72K;ENSP00000437439:R71K	ENSP00000305964:R72K	R	-	2	0	COX7B2	46431752	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.933000	0.28897	2.830000	0.97506	0.585000	0.79938	AGA	COX7B2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313899.1		-	ENST00000396533.1	Missense_Mutation	SNP	4 : 46736995 - 46736995 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	394	9
CUBN	8029	broad.mit.edu	37	10	16970247	16970247	+	Silent	SNP	C	C	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:16970247C>A	ENST00000377833.4	-	41	6245	c.6180G>T	c.(6178-6180)ggG>ggT	p.G2060G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2060	CUB 14.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCGGATGGGCCCAGGGATCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	67	68			NA	NA	10		NA											NA				16970247		2203	4300	6503	SO:0001819	synonymous_variant			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611	8029	8029			2548	protein-coding gene	gene with protein product		602997		MGA1	NA	9572993, 9478979	Standard	NM_001081	NM_001081	NA	Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6180G>T	10.37:g.16970247C>A		NA	B0YIZ4|Q5VTA6|Q96RU9	37	CCDS7113.1																																																																																			CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047009.1		-	ENST00000377833.4	Silent	SNP	10 : 16970247 - 16970247 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	289	9
CXorf22	170063	broad.mit.edu	37	X	35974224	35974224	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chrX:35974224G>A	ENST00000297866.5	+	8	1387	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	441								p.E441K(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AAATCAATGCGAATTACTTCC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)											69	63	65			NA	NA	X		NA											NA				35974224		2202	4300	6502	SO:0001583	missense			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164	170063	170063			28546	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152632	NM_152632	NA	Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1321G>A	X.37:g.35974224G>A	ENSP00000297866:p.Glu441Lys	NA	Q5JRM8|Q8N6X8	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.057199	0.00390	.	.	ENSG00000165164	ENST00000297866	T	0.53640	0.61	5.2	-5.28	0.02755	.	1.251890	0.05007	N	0.470268	T	0.16257	0.0391	N	0.03324	-0.35	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.21999	-1.0229	10	0.05959	T	0.93	-31.1423	3.3027	0.06989	0.2448:0.3051:0.3491:0.101	.	441	Q6ZTR5	CX022_HUMAN	K	441	ENSP00000297866:E441K	ENSP00000297866:E441K	E	+	1	0	CXorf22	35884145	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.269000	0.08596	-0.677000	0.05231	-1.184000	0.01707	GAA	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056216.2		+	ENST00000297866.5	Missense_Mutation	SNP	X : 35974224 - 35974224 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	227	21
DDX31	64794	broad.mit.edu	37	9	135537950	135537950	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:135537950C>T	ENST00000372159.3	-	2	674	c.523G>A	c.(523-525)Gca>Aca	p.A175T	DDX31_ENST00000310532.2_Missense_Mutation_p.A175T|DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000544003.1_Missense_Mutation_p.A79T|DDX31_ENST00000372153.1_Missense_Mutation_p.A175T|DDX31_ENST00000438527.3_Missense_Mutation_p.A46T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	175						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		ATTTTTTGTGCGTTCCCCTTA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA,THR/ALA	0,4406		0,0,2203	174	171	172		523,523	-7.7	0	9		172	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DDX31	NM_138620.1,NM_022779.7	58,58	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign,benign	175/586,175/852	135537950	1,13005	2203	4300	6503	SO:0001583	missense			AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485	64794	64794		DEAD-boxes, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	16715	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 25		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31		NA		Standard	NM_138620	NM_022779	NA	Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.523G>A	9.37:g.135537950C>T	ENSP00000361232:p.Ala175Thr	NA	Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	37	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	c	3.149	-0.174630	0.06421	0.0	1.16E-4	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000438527;ENST00000310532;ENST00000544003	T;T;T;T;T	0.47869	4.37;3.92;4.34;3.5;0.83	5.6	-7.73	0.01245	.	1.174590	0.05861	N	0.622977	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	B;B;B	0.23891	0.093;0.003;0.002	B;B;B	0.14578	0.011;0.003;0.0	T	0.18871	-1.0323	10	0.09843	T	0.71	0.329	0.3822	0.00396	0.2246:0.2316:0.2547:0.2891	.	175;175;175	Q9H8H2-2;Q9H8H2-3;Q9H8H2	.;.;DDX31_HUMAN	T	175;175;175;46;175;79	ENSP00000361232:A175T;ENSP00000361226:A175T;ENSP00000387730:A46T;ENSP00000310539:A175T;ENSP00000442425:A79T	ENSP00000310539:A175T	A	-	1	0	DDX31	134527771	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.965000	0.03829	-0.997000	0.03450	-0.285000	0.09966	GCA	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054794.1		-	ENST00000372159.3	Missense_Mutation	SNP	9 : 135537950 - 135537950 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	842	95
EPHA2	1969	broad.mit.edu	37	1	16455955	16455955	+	Silent	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:16455955G>A	ENST00000358432.5	-	16	2953	c.2799C>T	c.(2797-2799)atC>atT	p.I933I		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	933	Negatively regulates interaction with ARHGEF16.|SAM.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CCACCTTCTCGATGGCAGTGT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	80	84			NA	NA	1		NA											NA				16455955		2203	4300	6503	SO:0001819	synonymous_variant			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	1969	1969	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3386	protein-coding gene	gene with protein product		176946	EphA2	ECK	NA	9119409	Standard	NM_004431	NM_004431	NA	Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2799C>T	1.37:g.16455955G>A		NA	Q8N3Z2	37	CCDS169.1																																																																																			EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026322.1		-	ENST00000358432.5	Silent	SNP	1 : 16455955 - 16455955 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	392	13
ERCC2	2068	broad.mit.edu	37	19	45854888	45854888	+	Nonstop_Mutation	SNP	C	C	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:45854888C>G	ENST00000391945.4	-	23	2359	c.2282G>C	c.(2281-2283)tGa>tCa	p.*761S	ERCC2_ENST00000391944.3_Nonstop_Mutation_p.*683S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	0					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCGCCCCACTCAGAGCTGCTG	0.592		NA	Mis, N, F, S			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)		E	0													133	142	139			NA	NA	19		NA											NA				45854888		2203	4300	6503	SO:0001578	stop_lost	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	2068	2068	3.6.4.12	General transcription factor IIH complex subunits	3434	protein-coding gene	gene with protein product	excision repair cross-complementing rodent repair deficiency, complementation group 2 protein, TFIIH basal transcription factor complex helicase XPB subunit	126340	xeroderma pigmentosum complementary group D, excision repair cross-complementing rodent repair deficiency, complementation group 2	XPD	NA	8413672, 2184031	Standard	NM_000400	NM_000400	NA	Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.2282G>C	19.37:g.45854888C>G		NA	Q2TB78|Q2YDY2|Q8N721	37	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	C	9.890	1.203909	0.22121	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	.	.	.	4.29	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3154	0.21188	0.0:0.8316:0.0:0.1684	.	.	.	.	S	711;737;761;683	.	.	X	-	2	2	ERCC2	50546728	1.000000	0.71417	0.948000	0.38648	0.024000	0.10985	3.262000	0.51538	0.932000	0.37266	0.561000	0.74099	TGA	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109626.2		-	ENST00000391945.4	Nonstop_Mutation	SNP	19 : 45854888 - 45854888 G PAAD-TCGA-IB-7647-Tumor-SM-2NW82	1394	120
ERCC2	2068	broad.mit.edu	37	19	45854979	45854979	+	Splice_Site	SNP	C	C	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:45854979C>G	ENST00000391945.4	-	23	2268	c.2191G>C	c.(2191-2193)Gag>Cag	p.E731Q	ERCC2_ENST00000391944.3_Splice_Site_p.E653Q	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	731					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AGCTGATCCTCCTGCAGAGAA	0.627		NA	Mis, N, F, S			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)		E	0													62	63	62			NA	NA	19		NA											NA				45854979		2203	4300	6503	SO:0001630	splice_region_variant	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	2068	2068	3.6.4.12	General transcription factor IIH complex subunits	3434	protein-coding gene	gene with protein product	excision repair cross-complementing rodent repair deficiency, complementation group 2 protein, TFIIH basal transcription factor complex helicase XPB subunit	126340	xeroderma pigmentosum complementary group D, excision repair cross-complementing rodent repair deficiency, complementation group 2	XPD	NA	8413672, 2184031	Standard	NM_000400	NM_000400	NA	Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.2191-1G>C	19.37:g.45854979C>G		NA	Q2TB78|Q2YDY2|Q8N721	37	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056286	0.76074	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	T;D	0.82893	-1.44;-1.66	4.13	4.13	0.48395	.	0.058002	0.64402	D	0.000002	D	0.90205	0.6938	M	0.79805	2.47	0.80722	D	1	B;B;D	0.63880	0.066;0.114;0.993	B;B;D	0.72982	0.109;0.04;0.979	D	0.90111	0.4192	10	0.41790	T	0.15	-29.0483	13.9463	0.64086	0.0:1.0:0.0:0.0	.	653;731;424	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	Q	681;707;731;653	ENSP00000375809:E731Q;ENSP00000375808:E653Q	ENSP00000375805:E681Q	E	-	1	0	ERCC2	50546819	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	6.925000	0.75829	2.153000	0.67306	0.561000	0.74099	GAG	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109626.2	Missense_Mutation	-	ENST00000391945.4	Splice_Site	SNP	19 : 45854979 - 45854979 G PAAD-TCGA-IB-7647-Tumor-SM-2NW82	582	54
EXOSC8	11340	broad.mit.edu	37	13	37576427	37576427	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr13:37576427A>G	ENST00000389704.3	+	2	300	c.35A>G	c.(34-36)gAg>gGg	p.E12G	EXOSC8_ENST00000489088.1_3'UTR	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	12					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		GAACCTCTGGAGTATTACAGG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	112	113			NA	NA	13		NA											NA				37576427		2203	4300	6503	SO:0001583	missense			AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	11340	11340	3.1.13.-		17035	protein-coding gene	gene with protein product	CBP-interacting protein 3, Opa interacting protein 2	606019			NA	9466265, 11929972	Standard	NM_181503	NM_181503	NA	Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.35A>G	13.37:g.37576427A>G	ENSP00000374354:p.Glu12Gly	NA	O43480|Q5TBA5	37	CCDS31958.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943943	0.73672	.	.	ENSG00000120699	ENST00000389704;ENST00000379809	T	0.45276	0.9	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.43743	0.1261	M	0.75615	2.305	0.80722	D	1	B;P	0.35139	0.219;0.486	B;B	0.28465	0.072;0.09	T	0.48468	-0.9033	10	0.52906	T	0.07	-14.8925	15.5547	0.76184	1.0:0.0:0.0:0.0	.	12;12	Q5JXM0;Q96B26	.;EXOS8_HUMAN	G	12	ENSP00000374354:E12G	ENSP00000369137:E12G	E	+	2	0	EXOSC8	36474427	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.767000	0.74975	2.088000	0.63022	0.528000	0.53228	GAG	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044535.2		+	ENST00000389704.3	Missense_Mutation	SNP	13 : 37576427 - 37576427 G PAAD-TCGA-IB-7647-Tumor-SM-2NW82	486	14
FPGS	2356	broad.mit.edu	37	9	130575756	130575756	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:130575756C>T	ENST00000373225.3	+	15	1696	c.1487C>T	c.(1486-1488)aCc>aTc	p.T496I	FPGS_ENST00000373247.2_Missense_Mutation_p.T546I|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.T520I	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	546					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	GGCCTCCTCACCCACCCTGTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	80	80			NA	NA	9		NA											NA				130575756		2203	4300	6503	SO:0001583	missense				CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	2356	2356	6.3.2.17		3824	protein-coding gene	gene with protein product		136510			NA		Standard		NM_004957	NA	Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373225.3:c.1487C>T	9.37:g.130575756C>T	ENSP00000362322:p.Thr496Ile	NA	Q5JU22|Q6P2P6	37	CCDS35149.1	.	.	.	.	.	.	.	.	.	.	C	5.750	0.322762	0.10900	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.14144	2.94;2.94;2.53	5.16	3.12	0.35913	.	0.920751	0.09423	N	0.804181	T	0.09598	0.0236	N	0.14661	0.345	0.80722	D	1	B;B	0.22003	0.063;0.063	B;B	0.20577	0.03;0.03	T	0.13764	-1.0497	10	0.33940	T	0.23	-4.02	11.7357	0.51763	0.4523:0.5477:0.0:0.0	.	520;546	Q05932-4;Q05932	.;FOLC_HUMAN	I	546;520;496	ENSP00000362344:T546I;ENSP00000377309:T520I;ENSP00000362322:T496I	ENSP00000362322:T496I	T	+	2	0	FPGS	129615577	0.211000	0.23529	0.692000	0.30179	0.023000	0.10783	0.343000	0.19944	1.103000	0.41568	0.650000	0.86243	ACC	FPGS-012	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054252.2		+	ENST00000373225.3	Missense_Mutation	SNP	9 : 130575756 - 130575756 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	670	64
GDE1	51573	broad.mit.edu	37	16	19528371	19528371	+	Silent	SNP	A	A	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:19528371A>T	ENST00000353258.3	-	2	582	c.402T>A	c.(400-402)atT>atA	p.I134I		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	134	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						TCAGCTTCCTAATTTGTTCAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	137	143			NA	NA	16		NA											NA				19528371		2197	4300	6497	SO:0001819	synonymous_variant				CCDS10578.1	16p12-p11.2	2011-01-25			ENSG00000006007	ENSG00000006007	51573	51573	3.1.4.46		29644	protein-coding gene	gene with protein product	membrane interacting protein of RGS16	605943			NA	12576545, 16472945	Standard	NM_016641	NM_016641	NA	Approved	MIR16	uc002dgh.3	Q9NZC3	OTTHUMG00000131454	ENST00000353258.3:c.402T>A	16.37:g.19528371A>T		NA	O43334|Q6PKF7|Q7KYR4	37	CCDS10578.1																																																																																			GDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254274.2		-	ENST00000353258.3	Silent	SNP	16 : 19528371 - 19528371 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	728	82
GDE1	51573	broad.mit.edu	37	16	19528372	19528372	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:19528372A>T	ENST00000353258.3	-	2	581	c.401T>A	c.(400-402)aTt>aAt	p.I134N		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	134	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						CAGCTTCCTAATTTGTTCAAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	138	144			NA	NA	16		NA											NA				19528372		2197	4300	6497	SO:0001583	missense				CCDS10578.1	16p12-p11.2	2011-01-25			ENSG00000006007	ENSG00000006007	51573	51573	3.1.4.46		29644	protein-coding gene	gene with protein product	membrane interacting protein of RGS16	605943			NA	12576545, 16472945	Standard	NM_016641	NM_016641	NA	Approved	MIR16	uc002dgh.3	Q9NZC3	OTTHUMG00000131454	ENST00000353258.3:c.401T>A	16.37:g.19528372A>T	ENSP00000261386:p.Ile134Asn	NA	O43334|Q6PKF7|Q7KYR4	37	CCDS10578.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443829	0.83993	.	.	ENSG00000006007	ENST00000353258	T	0.14893	2.47	5.56	5.56	0.83823	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.404440	0.27189	N	0.020509	T	0.43389	0.1245	M	0.84683	2.71	0.42041	D	0.991079	P	0.46457	0.878	P	0.57204	0.815	T	0.49011	-0.8983	10	0.87932	D	0	-2.948	15.7008	0.77541	1.0:0.0:0.0:0.0	.	134	Q9NZC3	GDE1_HUMAN	N	134	ENSP00000261386:I134N	ENSP00000261386:I134N	I	-	2	0	GDE1	19435873	0.993000	0.37304	1.000000	0.80357	0.995000	0.86356	8.900000	0.92551	2.124000	0.65301	0.460000	0.39030	ATT	GDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254274.2		-	ENST00000353258.3	Missense_Mutation	SNP	16 : 19528372 - 19528372 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	729	84
GPR112	139378	broad.mit.edu	37	X	135432097	135432097	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chrX:135432097G>C	ENST00000394143.1	+	6	6523	c.6232G>C	c.(6232-6234)Ggt>Cgt	p.G2078R	GPR112_ENST00000287534.4_Missense_Mutation_p.G2015R|GPR112_ENST00000412101.1_Missense_Mutation_p.G1873R|GPR112_ENST00000394141.1_Missense_Mutation_p.G1873R|GPR112_ENST00000370652.1_Missense_Mutation_p.G2078R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2078					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCTACACTGGGTGGTATCAC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													257	190	212			NA	NA	X		NA											NA				135432097		2203	4300	6503	SO:0001583	missense			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920	139378	139378		-, GPCR / Class B : Orphans	18992	protein-coding gene	gene with protein product					NA	12435584	Standard		XM_005262367	NA	Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6232G>C	X.37:g.135432097G>C	ENSP00000377699:p.Gly2078Arg	NA	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	13.55	2.270870	0.40194	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.30981	1.55;1.55;1.51;1.54;1.51	4.04	2.04	0.26737	.	.	.	.	.	T	0.32346	0.0826	L	0.29908	0.895	0.09310	N	1	D;P;D	0.64830	0.982;0.926;0.994	P;P;P	0.59221	0.763;0.45;0.854	T	0.09907	-1.0653	9	0.59425	D	0.04	.	3.828	0.08863	0.1358:0.0:0.6268:0.2374	.	2015;1873;2078	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	R	2078;2078;1873;2015;1873	ENSP00000377699:G2078R;ENSP00000359686:G2078R;ENSP00000416526:G1873R;ENSP00000287534:G2015R;ENSP00000377697:G1873R	ENSP00000287534:G2015R	G	+	1	0	GPR112	135259763	0.000000	0.05858	0.001000	0.08648	0.135000	0.20990	-0.243000	0.08915	0.646000	0.30693	0.509000	0.49947	GGT	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286639.1		+	ENST00000394143.1	Missense_Mutation	SNP	X : 135432097 - 135432097 C PAAD-TCGA-IB-7647-Tumor-SM-2NW82	393	26
GPR45	11250	broad.mit.edu	37	2	105858390	105858390	+	Silent	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:105858390G>A	ENST00000258456.1	+	1	191	c.75G>A	c.(73-75)ggG>ggA	p.G25G		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	25						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CAGACTCGGGGTCCACCCAGT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	99	101			NA	NA	2		NA											NA				105858390		2203	4300	6503	SO:0001819	synonymous_variant			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973	11250	11250		GPCR / Class A : Orphans	4503	protein-coding gene	gene with protein product		604838			NA	10036181	Standard	NM_007227	NM_007227	NA	Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.75G>A	2.37:g.105858390G>A		NA	Q6NWS4|Q6NXU6	37	CCDS2066.1																																																																																			GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253348.1		+	ENST00000258456.1	Silent	SNP	2 : 105858390 - 105858390 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	474	27
HOOK1	51361	broad.mit.edu	37	1	60330911	60330911	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:60330911C>A	ENST00000371208.3	+	18	1995	c.1738C>A	c.(1738-1740)Caa>Aaa	p.Q580K	HOOK1_ENST00000465876.1_Intron|HOOK1_ENST00000395561.2_Missense_Mutation_p.Q538K	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	580					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AGATATAAATCAAAATGGTAG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	57	56			NA	NA	1		NA											NA				60330911		2203	4300	6503	SO:0001583	missense			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709	51361	51361			19884	protein-coding gene	gene with protein product		607820	hook homolog 1 (Drosophila)		NA	9927460	Standard	NM_015888	XM_005270922	NA	Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1738C>A	1.37:g.60330911C>A	ENSP00000360252:p.Gln580Lys	NA	A8K8E9|O60561|Q5TG44	37	CCDS612.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965749	0.34659	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.17213	2.29;2.29	6.03	6.03	0.97812	.	0.156942	0.56097	D	0.000022	T	0.19005	0.0456	L	0.45581	1.43	0.58432	D	0.999999	B	0.11235	0.004	B	0.16722	0.016	T	0.13202	-1.0518	10	0.10377	T	0.69	.	20.6398	0.99548	0.0:1.0:0.0:0.0	.	580	Q9UJC3	HOOK1_HUMAN	K	580;538	ENSP00000360252:Q580K;ENSP00000378928:Q538K	ENSP00000360252:Q580K	Q	+	1	0	HOOK1	60103499	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.497000	0.73674	2.881000	0.98747	0.650000	0.86243	CAA	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000024934.1		+	ENST00000371208.3	Missense_Mutation	SNP	1 : 60330911 - 60330911 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	237	9
IGSF10	285313	broad.mit.edu	37	3	151155325	151155325	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:151155325G>C	ENST00000282466.3	-	6	7023	c.7024C>G	c.(7024-7026)Cca>Gca	p.P2342A	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2342	Ig-like C2-type 10.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCATTAAATGGATTTCTAAAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	120	119			NA	NA	3		NA											NA				151155325		2203	4300	6503	SO:0001583	missense			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580	285313	285313		Immunoglobulin superfamily / I-set domain containing	26384	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178822	NM_178822	NA	Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7024C>G	3.37:g.151155325G>C	ENSP00000282466:p.Pro2342Ala	NA	Q86YJ9|Q8N772|Q8NA84	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173936	0.78452	.	.	ENSG00000152580	ENST00000282466	T	0.66815	-0.23	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000299	T	0.82254	0.4997	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82118	-0.0615	10	0.56958	D	0.05	.	19.9792	0.97320	0.0:0.0:1.0:0.0	.	2342;369	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	A	2342	ENSP00000282466:P2342A	ENSP00000282466:P2342A	P	-	1	0	IGSF10	152638015	1.000000	0.71417	0.549000	0.28204	0.904000	0.53231	9.414000	0.97362	2.727000	0.93392	0.591000	0.81541	CCA	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357782.1		-	ENST00000282466.3	Missense_Mutation	SNP	3 : 151155325 - 151155325 C PAAD-TCGA-IB-7647-Tumor-SM-2NW82	881	30
KCNA5	3741	broad.mit.edu	37	12	5153781	5153781	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:5153781C>A	ENST00000252321.3	+	1	697	c.468C>A	c.(466-468)ttC>ttA	p.F156L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	156						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TGCGCTACTTCGACCCCCTGA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	38	37			NA	NA	12		NA											NA				5153781		2203	4300	6503	SO:0001583	missense			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037	3741	3741		Potassium channels, Voltage-gated ion channels / Potassium channels	6224	protein-coding gene	gene with protein product		176267			NA	16382104	Standard	NM_002234	NM_002234	NA	Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.468C>A	12.37:g.5153781C>A	ENSP00000252321:p.Phe156Leu	NA	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	37	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219176	0.58560	.	.	ENSG00000130037	ENST00000252321	T	0.75821	-0.97	4.7	1.64	0.23874	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	U	0.000000	D	0.82342	0.5016	M	0.71036	2.16	0.50632	D	0.999888	D	0.76494	0.999	D	0.79784	0.993	T	0.82074	-0.0637	10	0.87932	D	0	.	9.7379	0.40399	0.0:0.676:0.0:0.324	.	156	P22460	KCNA5_HUMAN	L	156	ENSP00000252321:F156L	ENSP00000252321:F156L	F	+	3	2	KCNA5	5024042	0.971000	0.33674	1.000000	0.80357	0.994000	0.84299	0.197000	0.17197	0.598000	0.29829	0.511000	0.50034	TTC	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398925.2		+	ENST00000252321.3	Missense_Mutation	SNP	12 : 5153781 - 5153781 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	304	7
KIF18B	146909	broad.mit.edu	37	17	43011628	43011628	+	Silent	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:43011628G>A	ENST00000593135.1	-	6	955	c.858C>T	c.(856-858)aaC>aaT	p.N286N	KIF18B_ENST00000590129.1_Silent_p.N295N|KIF18B_ENST00000438933.2_Silent_p.N286N|KIF18B_ENST00000587309.1_Silent_p.N286N|KIF18B_ENST00000339151.4_Silent_p.N286N	NM_001265577.1	NP_001252506.1			kinesin family member 18B	NA										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CATTGAGGACGTTGATGAGCG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	29	28			NA	NA	17		NA											NA				43011628		2083	4245	6328	SO:0001819	synonymous_variant				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185		146909	146909		Kinesins	27102	protein-coding gene	gene with protein product		614570			NA	16084724	Standard	NM_001080443	NM_001264573	NA	Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.858C>T	17.37:g.43011628G>A		NA		37	CCDS45709.2																																																																																			KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448724.1		-	ENST00000593135.1	Silent	SNP	17 : 43011628 - 43011628 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	101	4
KLC3	147700	broad.mit.edu	37	19	45853629	45853629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:45853629C>T	ENST00000470402.1	+	8	1316	c.1216C>T	c.(1216-1218)Caa>Taa	p.Q406*	ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000585434.1_Nonsense_Mutation_p.Q391*|KLC3_ENST00000391946.2_Nonsense_Mutation_p.Q392*			Q6P597	KLC3_HUMAN	kinesin light chain 3	392						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GAACAAGTATCAACAAGCGGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	61	59			NA	NA	19		NA											NA				45853629		1909	4123	6032	SO:0001587	stop_gained			AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892	147700	147700		Tetratricopeptide (TTC) repeat domain containing	20717	protein-coding gene	gene with protein product		601334			NA		Standard	NM_145275	XM_005258536	NA	Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000470402.1:c.1216C>T	19.37:g.45853629C>T	ENSP00000436019:p.Gln406*	NA	A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	37		.	.	.	.	.	.	.	.	.	.	C	27.3	4.816862	0.90790	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	.	.	.	3.93	-1.34	0.09143	.	0.172476	0.38436	N	0.001693	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	12.5559	7.0831	0.25241	0.2875:0.2665:0.446:0.0	.	.	.	.	X	392;406	.	ENSP00000375810:Q392X	Q	+	1	0	KLC3	50545469	0.571000	0.26659	0.999000	0.59377	0.813000	0.45954	0.192000	0.17096	0.256000	0.21614	0.462000	0.41574	CAA	KLC3-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000289777.2		+	ENST00000470402.1	Nonsense_Mutation	SNP	19 : 45853629 - 45853629 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	375	37
KLC3	147700	broad.mit.edu	37	19	45853603	45853603	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:45853603C>G	ENST00000470402.1	+	8	1290	c.1190C>G	c.(1189-1191)tCa>tGa	p.S397*	ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000585434.1_Nonsense_Mutation_p.S382*|KLC3_ENST00000391946.2_Nonsense_Mutation_p.S383*			Q6P597	KLC3_HUMAN	kinesin light chain 3	383						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCGCAGGCCTCAGCCTACCTG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	52	50			NA	NA	19		NA											NA				45853603		1886	4121	6007	SO:0001587	stop_gained			AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892	147700	147700		Tetratricopeptide (TTC) repeat domain containing	20717	protein-coding gene	gene with protein product		601334			NA		Standard	NM_145275	XM_005258536	NA	Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000470402.1:c.1190C>G	19.37:g.45853603C>G	ENSP00000436019:p.Ser397*	NA	A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	37		.	.	.	.	.	.	.	.	.	.	C	33	5.269984	0.95429	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	.	.	.	3.74	3.74	0.42951	.	0.094375	0.44285	D	0.000478	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	1.0098	13.0785	0.59100	0.0:1.0:0.0:0.0	.	.	.	.	X	383;397	.	ENSP00000375810:S383X	S	+	2	0	KLC3	50545443	1.000000	0.71417	0.980000	0.43619	0.644000	0.38419	7.541000	0.82084	1.913000	0.55393	0.462000	0.41574	TCA	KLC3-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000289777.2		+	ENST00000470402.1	Nonsense_Mutation	SNP	19 : 45853603 - 45853603 G PAAD-TCGA-IB-7647-Tumor-SM-2NW82	340	27
KLHL1	57626	broad.mit.edu	37	13	70281775	70281775	+	Silent	SNP	T	T	C			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr13:70281775T>C	ENST00000377844.4	-	10	2928	c.2169A>G	c.(2167-2169)caA>caG	p.Q723Q	KLHL1_ENST00000545028.1_Silent_p.Q530Q	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	723					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ACTCATTAGTTTGTGGGTCAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	131	142			NA	NA	13		NA											NA				70281775		2203	4300	6503	SO:0001819	synonymous_variant			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361	57626	57626		Kelch-like, BTB/POZ domain containing	6352	protein-coding gene	gene with protein product	Kelch-like protein 1, Mayven-related protein 2	605332	kelch (Drosophila)-like 1, kelch-like 1 (Drosophila)		NA	10888605	Standard	NM_020866	NM_020866	NA	Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.2169A>G	13.37:g.70281775T>C		NA	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	37	CCDS9445.1																																																																																			KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045231.3		-	ENST00000377844.4	Silent	SNP	13 : 70281775 - 70281775 C PAAD-TCGA-IB-7647-Tumor-SM-2NW82	355	8
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	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>T	12.37:g.25398284C>A	ENSP00000308495:p.Gly12Val	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	125	9
LDLRAD3	143458	broad.mit.edu	37	11	36250849	36250849	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:36250849G>A	ENST00000315571.5	+	6	961	c.940G>A	c.(940-942)Gtg>Atg	p.V314M	LDLRAD3_ENST00000524419.1_Missense_Mutation_p.V304M|LDLRAD3_ENST00000528989.1_Missense_Mutation_p.V265M	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	314						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCTCCTGAGCGTGGAAGACAC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL	0,4404		0,0,2202	57	67	63		940	-1.1	0	11		63	1,8589		0,1,4294	no	missense	LDLRAD3	NM_174902.2	21	0,1,6496	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	314/346	36250849	1,12993	2202	4295	6497	SO:0001583	missense			AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241	143458	143458			27046	protein-coding gene	gene with protein product					NA	21795536	Standard	NM_174902	NM_174902	NA	Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.940G>A	11.37:g.36250849G>A	ENSP00000318607:p.Val314Met	NA	B9EG81|Q8NBJ0	37	CCDS31462.1	.	.	.	.	.	.	.	.	.	.	G	9.730	1.161967	0.21538	0.0	1.16E-4	ENSG00000179241	ENST00000528989;ENST00000524419;ENST00000315571	D;D;D	0.94576	-3.46;-3.33;-3.22	5.22	-1.14	0.09741	.	1.345450	0.04918	N	0.454465	D	0.86151	0.5864	N	0.14661	0.345	0.09310	N	1	B;B;B	0.15473	0.013;0.003;0.003	B;B;B	0.08055	0.003;0.0;0.0	T	0.73984	-0.3810	10	0.38643	T	0.18	.	2.0251	0.03517	0.5317:0.1415:0.1838:0.1429	.	304;265;314	E9PR86;B7Z1U3;Q86YD5	.;.;LRAD3_HUMAN	M	265;304;314	ENSP00000433954:V265M;ENSP00000434313:V304M;ENSP00000318607:V314M	ENSP00000318607:V314M	V	+	1	0	LDLRAD3	36207425	0.000000	0.05858	0.031000	0.17742	0.580000	0.36256	-0.821000	0.04452	-0.105000	0.12132	0.563000	0.77884	GTG	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389085.1		+	ENST00000315571.5	Missense_Mutation	SNP	11 : 36250849 - 36250849 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	931	16
LMBRD1	55788	broad.mit.edu	37	6	70428941	70428941	+	Silent	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr6:70428941C>T	ENST00000370577.3	-	8	898	c.669G>A	c.(667-669)ctG>ctA	p.L223L	LMBRD1_ENST00000370570.1_Silent_p.L150L	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	223					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TGCCTTTTATCAGATTTAAAG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	99	104			NA	NA	6		NA											NA				70428941		2203	4300	6503	SO:0001819	synonymous_variant			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216	55788	55788			23038	protein-coding gene	gene with protein product		612625	chromosome 6 open reading frame 209	C6orf209	NA	19136951	Standard	NM_018368	NM_018368	NA	Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.669G>A	6.37:g.70428941C>T		NA	A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	37	CCDS4969.1																																																																																			LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041124.1		-	ENST00000370577.3	Silent	SNP	6 : 70428941 - 70428941 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	214	9
LMLN	89782	broad.mit.edu	37	3	197707289	197707289	+	Silent	SNP	C	C	T	rs146220433		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:197707289C>T	ENST00000330198.4	+	6	664	c.642C>T	c.(640-642)taC>taT	p.Y214Y	LMLN_ENST00000332636.5_Silent_p.Y162Y|LMLN_ENST00000420910.2_Silent_p.Y214Y|LMLN_ENST00000482695.1_Silent_p.Y162Y	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	214					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTGTTCTTTACGTTGGTGCTC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	1,4405	2.1+/-5.4	0,1,2202	164	152	156		642,642	2.4	1	3	dbSNP_134	156	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LMLN	NM_001136049.2,NM_033029.3	,	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	,	214/693,214/656	197707289	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	89782	89782	3.4.24.36		15991	protein-coding gene	gene with protein product		609380			NA		Standard	NM_033029	NM_033029	NA	Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.642C>T	3.37:g.197707289C>T		NA	C9J796|Q96KR5	37	CCDS3332.1																																																																																			LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339701.1		+	ENST00000330198.4	Silent	SNP	3 : 197707289 - 197707289 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	781	25
LRFN5	145581	broad.mit.edu	37	14	42356419	42356419	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr14:42356419G>A	ENST00000554171.1	+	5	3023	c.591G>A	c.(589-591)atG>atA	p.M197I	LRFN5_ENST00000554120.1_Missense_Mutation_p.M197I|LRFN5_ENST00000298119.4_Missense_Mutation_p.M197I			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	197						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGCACAAGATGACTCGGTTAG	0.443		NA								HNSCC(30;0.082)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	64	67			NA	NA	14		NA											NA				42356419		2203	4300	6503	SO:0001583	missense			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379	145581	145581		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	20360	protein-coding gene	gene with protein product	fibronectin type III, immunoglobulin and leucine rich repeat domains 8	612811	chromosome 14 open reading frame 146	C14orf146	NA	16828986	Standard	NM_152447	NM_152447	NA	Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000554171.1:c.591G>A	14.37:g.42356419G>A	ENSP00000451067:p.Met197Ile	NA	B3KU78|Q86XL2	37		.	.	.	.	.	.	.	.	.	.	G	12.01	1.809997	0.31961	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.49139	0.79;0.79;0.79	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000002	T	0.23289	0.0563	N	0.01771	-0.73	0.42698	D	0.993608	B;B	0.16396	0.001;0.017	B;B	0.19666	0.009;0.026	T	0.11916	-1.0568	10	0.66056	D	0.02	.	10.4503	0.44518	0.0879:0.0:0.9121:0.0	.	197;197	G3V364;Q96NI6	.;LRFN5_HUMAN	I	197	ENSP00000298119:M197I;ENSP00000451897:M197I;ENSP00000451067:M197I	ENSP00000298119:M197I	M	+	3	0	LRFN5	41426169	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.040000	0.41203	2.595000	0.87683	0.650000	0.86243	ATG	LRFN5-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000410001.1		+	ENST00000554171.1	Missense_Mutation	SNP	14 : 42356419 - 42356419 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	309	44
LRRC4C	57689	broad.mit.edu	37	11	40137319	40137319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:40137319C>T	ENST00000278198.2	-	2	2487	c.524G>A	c.(523-525)cGc>cAc	p.R175H	LRRC4C_ENST00000530763.1_Missense_Mutation_p.R175H|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R175H|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R175H			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	175					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTCTAGTCGGCGCAAAGAAGG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	91	91			NA	NA	11		NA											NA				40137319		2203	4300	6503	SO:0001583	missense			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948	57689	57689		Immunoglobulin superfamily / I-set domain containing	29317	protein-coding gene	gene with protein product		608817			NA	14595443	Standard	NM_020929	NM_020929	NA	Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.524G>A	11.37:g.40137319C>T	ENSP00000278198:p.Arg175His	NA	A8K0T1|Q7L0N3	37	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305659	0.60305	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.05081	3.5;3.5;3.5;3.5	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.25344	0.0616	M	0.67517	2.055	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	T	0.00029	-1.2295	10	0.49607	T	0.09	.	19.0894	0.93221	0.0:1.0:0.0:0.0	.	175	Q9HCJ2	LRC4C_HUMAN	H	175	ENSP00000278198:R175H;ENSP00000436976:R175H;ENSP00000437132:R175H;ENSP00000434761:R175H	ENSP00000278198:R175H	R	-	2	0	LRRC4C	40093895	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.050000	0.71063	2.754000	0.94517	0.650000	0.86243	CGC	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389499.1		-	ENST00000278198.2	Missense_Mutation	SNP	11 : 40137319 - 40137319 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	551	30
LRRCC1	85444	broad.mit.edu	37	8	86027446	86027446	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr8:86027446G>A	ENST00000414626.2	+	4	1485	c.596G>A	c.(595-597)tGc>tAc	p.C199Y	LRRCC1_ENST00000360375.3_Missense_Mutation_p.C219Y			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	219	LRRCT.				cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CAGCTGCAGTGCCTAGAAGGT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	94	93			NA	NA	8		NA											NA				86027446		1825	4080	5905	SO:0001583	missense			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739	85444	85444			29373	protein-coding gene	gene with protein product	centrosomal leucine-rich repeat and coiled-coil containing protein, variable number of flagella 1 homolog (Chlamydomonas)		leucine rich repeat and coiled-coil domain containing 1		NA	11214970, 18728398	Standard	NM_033402	NM_033402	NA	Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000414626.2:c.596G>A	8.37:g.86027446G>A	ENSP00000394695:p.Cys199Tyr	NA	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	37		.	.	.	.	.	.	.	.	.	.	G	11.80	1.747158	0.30955	.	.	ENSG00000133739	ENST00000426019;ENST00000360375;ENST00000414626	T;T	0.32272	1.46;1.47	5.52	4.63	0.57726	.	0.000000	0.42420	D	0.000701	T	0.31575	0.0801	L	0.59436	1.845	0.38194	D	0.940008	B;B;B	0.18610	0.016;0.029;0.005	B;B;B	0.25614	0.062;0.037;0.014	T	0.18023	-1.0350	10	0.42905	T	0.14	-1.709	12.0541	0.53524	0.0795:0.0:0.9205:0.0	.	199;126;219	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	Y	126;219;199	ENSP00000353538:C219Y;ENSP00000394695:C199Y	ENSP00000353538:C219Y	C	+	2	0	LRRCC1	86214698	1.000000	0.71417	0.998000	0.56505	0.666000	0.39218	6.269000	0.72558	2.585000	0.87301	0.460000	0.39030	TGC	LRRCC1-006	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000380272.1		+	ENST00000414626.2	Missense_Mutation	SNP	8 : 86027446 - 86027446 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	738	93
LUC7L3	51747	broad.mit.edu	37	17	48821167	48821167	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:48821167C>T	ENST00000505658.1	+	6	716	c.527C>T	c.(526-528)aCg>aTg	p.T176M	LUC7L3_ENST00000544170.1_Missense_Mutation_p.T100M|LUC7L3_ENST00000393227.2_Missense_Mutation_p.T176M|LUC7L3_ENST00000240304.1_Missense_Mutation_p.T176M			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	176					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AGGTCCACAACGTCGGTGAGT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	87	87			NA	NA	17		NA											NA				48821167		2203	4300	6503	SO:0001583	missense				CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848	51747	51747			24309	protein-coding gene	gene with protein product	cisplatin resistance associated overexpressed protein, CRE-associated protein	609434			NA	10631324, 12565863	Standard	NM_016424	NM_016424	NA	Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.527C>T	17.37:g.48821167C>T	ENSP00000425092:p.Thr176Met	NA	B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	37	CCDS11573.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970220	0.34754	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000542316;ENST00000544170	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.48	5.48	0.80851	.	0.097706	0.64402	D	0.000001	T	0.37489	0.1005	N	0.16478	0.41	0.53005	D	0.99996	P;D;D	0.67145	0.629;0.988;0.996	B;P;P	0.58928	0.091;0.761;0.848	T	0.13282	-1.0515	10	0.38643	T	0.18	-7.8056	19.7073	0.96079	0.0:1.0:0.0:0.0	.	100;176;176	B4DJ96;O95232;A8K3C5	.;LC7L3_HUMAN;.	M	176;176;176;176;100	ENSP00000425092:T176M;ENSP00000376919:T176M;ENSP00000240304:T176M;ENSP00000444253:T100M	ENSP00000240304:T176M	T	+	2	0	LUC7L3	46176166	1.000000	0.71417	0.963000	0.40424	0.042000	0.13812	5.910000	0.69931	2.722000	0.93159	0.557000	0.71058	ACG	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368205.2		+	ENST00000505658.1	Missense_Mutation	SNP	17 : 48821167 - 48821167 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	306	38
MAGEB16	139604	broad.mit.edu	37	X	35820358	35820358	+	Silent	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chrX:35820358C>T	ENST00000399989.1	+	2	324	c.45C>T	c.(43-45)caC>caT	p.H15H	MAGEB16_ENST00000399987.1_Silent_p.H15H|MAGEB16_ENST00000399985.1_Silent_p.H15H|MAGEB16_ENST00000399992.1_Silent_p.H47H|MAGEB16_ENST00000399988.1_Silent_p.H15H	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	15										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ATGATCAGCACCTTCAGACCT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	52	51			NA	NA	X		NA											NA				35820358		2113	4208	6321	SO:0001819	synonymous_variant				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023	139604	139604			21188	protein-coding gene	gene with protein product		300762	melanoma antigen family B, 16 (pseudogene)		NA	11454705	Standard		NM_001099921	NA	Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.45C>T	X.37:g.35820358C>T		NA	A8MU30	37	CCDS43927.1																																																																																			MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251034.1		+	ENST00000399989.1	Silent	SNP	X : 35820358 - 35820358 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	128	24
MAGEL2	54551	broad.mit.edu	37	15	23890566	23890566	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr15:23890566T>C	ENST00000532292.1	-	1	609	c.515A>G	c.(514-516)aAc>aGc	p.N172S		NM_019066.4	NP_061939.3			MAGE-like 2	NA										breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGCAGGCAGGTTTTTCCAGGC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	54	52			NA	NA	15		NA											NA				23890566		2017	4186	6203	SO:0001583	missense			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585	54551	54551			6814	protein-coding gene	gene with protein product		605283		NDNL1	NA	10556298	Standard	NM_019066	NM_019066	NA	Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.515A>G	15.37:g.23890566T>C	ENSP00000433433:p.Asn172Ser	NA		37		.	.	.	.	.	.	.	.	.	.	T	1.611	-0.523921	0.04141	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.08	-6.12	0.02124	.	.	.	.	.	T	0.23649	0.0572	N	0.24115	0.695	0.09310	N	1	.	.	.	.	.	.	T	0.28776	-1.0033	5	.	.	.	.	6.4455	0.21873	0.0:0.3177:0.3652:0.317	.	.	.	.	A	204	.	.	T	-	1	0	MAGEL2	21441659	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.962000	0.03841	-1.381000	0.02112	-1.151000	0.01829	ACC	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000395182.2		-	ENST00000532292.1	Missense_Mutation	SNP	15 : 23890566 - 23890566 C PAAD-TCGA-IB-7647-Tumor-SM-2NW82	212	6
MUC16	94025	broad.mit.edu	37	19	9074001	9074001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:9074001G>A	ENST00000397910.4	-	3	13648	c.13445C>T	c.(13444-13446)gCg>gTg	p.A4482V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4484	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACTGAAGTCGCAGAAACAGG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	2,4038		0,2,2018	137	129	132		13445	-4.4	0	19		132	1,8347		0,1,4173	no	missense	MUC16	NM_024690.2	64	0,3,6191	AA,AG,GG	NA	0.012,0.0495,0.0242	benign	4482/14508	9074001	3,12385	2020	4174	6194	SO:0001583	missense			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143	94025	94025		Mucins	15582	protein-coding gene	gene with protein product		606154			NA	11369781	Standard	NM_024690	XM_006722941	NA	Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13445C>T	19.37:g.9074001G>A	ENSP00000381008:p.Ala4482Val	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	1.841	-0.467526	0.04476	4.95E-4	1.2E-4	ENSG00000181143	ENST00000397910	T	0.15603	2.41	2.22	-4.44	0.03557	.	.	.	.	.	T	0.03564	0.0102	N	0.00368	-1.59	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.44667	-0.9313	8	0.87932	D	0	.	5.0828	0.14666	0.4495:0.0:0.4123:0.1382	.	4482	B5ME49	.	V	4482	ENSP00000381008:A4482V	ENSP00000381008:A4482V	A	-	2	0	MUC16	8935001	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.514000	0.00956	-2.395000	0.00582	-2.024000	0.00429	GCG	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9074001 - 9074001 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	549	38
MUC6	4588	broad.mit.edu	37	11	1031906	1031906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:1031906C>T	ENST00000421673.2	-	3	313	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	88	VWFD 1.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCTGGGCCTCGCCGCAGCTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	75	73			NA	NA	11		NA											NA				1031906		2140	4227	6367	SO:0001583	missense			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956	4588	4588		Mucins	7517	protein-coding gene	gene with protein product		158374	mucin 6, gastric		NA	7680650	Standard	XM_290540	NM_005961	NA	Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.263G>A	11.37:g.1031906C>T	ENSP00000406861:p.Arg88Gln	NA	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941759	0.73557	.	.	ENSG00000184956	ENST00000421673;ENST00000525923	T;T	0.59638	0.25;0.25	4.03	4.03	0.46877	von Willebrand factor, type D domain (3);	0.000000	0.28016	U	0.016921	T	0.75443	0.3850	M	0.76002	2.32	0.34055	D	0.656646	D	0.89917	1.0	D	0.91635	0.999	D	0.84681	0.0717	10	0.72032	D	0.01	.	16.1414	0.81528	0.0:1.0:0.0:0.0	.	88	Q6W4X9	MUC6_HUMAN	Q	88;112	ENSP00000406861:R88Q;ENSP00000433790:R112Q	ENSP00000406861:R88Q	R	-	2	0	MUC6	1021906	0.828000	0.29307	0.981000	0.43875	0.586000	0.36452	3.799000	0.55529	1.968000	0.57251	0.462000	0.41574	CGA	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382120.2		-	ENST00000421673.2	Missense_Mutation	SNP	11 : 1031906 - 1031906 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	229	11
MVB12B	89853	broad.mit.edu	37	9	129148842	129148842	+	Splice_Site	SNP	G	G	C			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:129148842G>C	ENST00000361171.3	+	4	395	c.314G>C	c.(313-315)aGt>aCt	p.S105T	MVB12B_ENST00000545391.1_Splice_Site_p.S105T|MVB12B_ENST00000535766.1_Splice_Site_p.S98T|MVB12B_ENST00000436593.3_Splice_Site_p.S90T	NM_033446.2	NP_258257.1			multivesicular body subunit 12B	NA											NA						CTTCCCAAGAGTCATCTGGGG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	75	81			NA	NA	9		NA											NA				129148842		2203	4300	6503	SO:0001630	splice_region_variant			AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814	89853	89853			23368	protein-coding gene	gene with protein product			chromosome 9 open reading frame 28, family with sequence similarity 125, member B	C9orf28, FAM125B	NA	18005716, 20654576, 22232651	Standard	XM_088525	NM_033446	NA	Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.313-1G>C	9.37:g.129148842G>C		NA		37	CCDS35142.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446526	0.63178	.	.	ENSG00000196814	ENST00000361171;ENST00000545391;ENST00000402437;ENST00000436593;ENST00000535766	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.29	5.29	0.74685	MABP domain (1);	0.000000	0.85682	D	0.000000	T	0.60431	0.2268	M	0.68317	2.08	0.58432	D	0.999999	D;P;P	0.64830	0.994;0.955;0.955	D;P;P	0.64506	0.926;0.675;0.675	T	0.54139	-0.8338	10	0.16420	T	0.52	-3.1465	18.9439	0.92613	0.0:0.0:1.0:0.0	.	98;90;105	B7Z4X0;B7Z1P9;Q9H7P6	.;.;F125B_HUMAN	T	105;105;90;90;98	ENSP00000354772:S105T;ENSP00000441988:S105T;ENSP00000384751:S90T;ENSP00000401379:S90T;ENSP00000442846:S98T	ENSP00000354772:S105T	S	+	2	0	FAM125B	128188663	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.149000	0.71795	2.474000	0.83562	0.650000	0.86243	AGT	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054110.1	Missense_Mutation	+	ENST00000361171.3	Splice_Site	SNP	9 : 129148842 - 129148842 C PAAD-TCGA-IB-7647-Tumor-SM-2NW82	152	4
MYT1	4661	broad.mit.edu	37	20	62851191	62851191	+	Silent	SNP	C	C	T	rs117853857	by1000genomes	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:62851191C>T	ENST00000328439.1	+	13	2461	c.2097C>T	c.(2095-2097)gaC>gaT	p.D699D	MYT1_ENST00000536311.1_Silent_p.D726D|MYT1_ENST00000360149.4_Silent_p.D401D	NM_004535.2	NP_004526.1	Q01538	MYT1_HUMAN	myelin transcription factor 1	699	Ser-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGTCTCCCGACGCCTCCCAGC	0.657		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	4e-04	SNP	GBM(59;481 1041 20555 21139 33705)							NA				0													38	39	39			NA	NA	20		NA											NA				62851191		2203	4299	6502	SO:0001819	synonymous_variant			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132	4661	4661		Zinc fingers, C2HC-type containing	7622	protein-coding gene	gene with protein product	neural zinc finger transcription factor 2	600379		PLPB1	NA	1280325, 9268380	Standard	NM_004535	NM_004535	NA	Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2097C>T	20.37:g.62851191C>T		NA	E1P5H0|O94922|Q9UPV2	37	CCDS13558.1																																																																																			MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080297.1		+	ENST00000328439.1	Silent	SNP	20 : 62851191 - 62851191 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	93	8
NELL2	4753	broad.mit.edu	37	12	44917143	44917143	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:44917143A>T	ENST00000429094.2	-	17	2433	c.1929T>A	c.(1927-1929)gaT>gaA	p.D643E	NELL2_ENST00000452445.2_Missense_Mutation_p.D643E|NELL2_ENST00000395487.2_Missense_Mutation_p.D642E|NELL2_ENST00000549027.1_Missense_Mutation_p.D642E|NELL2_ENST00000551601.1_Missense_Mutation_p.D595E|NELL2_ENST00000437801.2_Missense_Mutation_p.D693E|NELL2_ENST00000333837.4_Missense_Mutation_p.D666E	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	643	VWFC 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TAACTTTTCCATCATGGATGC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	159	161			NA	NA	12		NA											NA				44917143		2203	4300	6503	SO:0001583	missense			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613	4753	4753			7751	protein-coding gene	gene with protein product		602320	nel (chicken)-like 2		NA	19249368	Standard	NM_006159	NM_006159	NA	Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1929T>A	12.37:g.44917143A>T	ENSP00000390680:p.Asp643Glu	NA		37	CCDS8746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.402|6.402	0.442294|0.442294	0.12164|0.12164	.|.	.|.	ENSG00000184613|ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801|ENST00000550139	T;T;T;T;T;T;D|.	0.81739|.	-1.47;-1.46;-1.13;-1.46;-1.47;-1.4;-1.53|.	5.82|5.82	-1.94|-1.94	0.07571|0.07571	von Willebrand factor, type C (2);|.	0.336601|.	0.33753|.	N|.	0.004596|.	T|T	0.12902|0.12902	0.0313|0.0313	N|N	0.10629|0.10629	0.01|0.01	0.29822|0.29822	N|N	0.830744|0.830744	B;B;B;B;B|.	0.06786|.	0.0;0.0;0.001;0.0;0.0|.	B;B;B;B;B|.	0.08055|.	0.001;0.001;0.003;0.001;0.001|.	T|T	0.26780|0.26780	-1.0093|-1.0093	10|5	0.02654|.	T|.	1|.	-8.98|-8.98	0.8838|0.8838	0.01240|0.01240	0.3152:0.0985:0.2528:0.3335|0.3152:0.0985:0.2528:0.3335	.|.	666;693;595;643;642|.	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2|.	.;.;.;NELL2_HUMAN;.|.	E|R	642;643;595;643;642;666;693|56	ENSP00000378866:D642E;ENSP00000390680:D643E;ENSP00000449332:D595E;ENSP00000394612:D643E;ENSP00000447927:D642E;ENSP00000327988:D666E;ENSP00000416341:D693E|.	ENSP00000327988:D666E|.	D|W	-|-	3|1	2|0	NELL2|NELL2	43203410|43203410	0.983000|0.983000	0.35010|0.35010	0.406000|0.406000	0.26421|0.26421	0.961000|0.961000	0.63080|0.63080	0.473000|0.473000	0.22132|0.22132	-0.594000|-0.594000	0.05836|0.05836	0.523000|0.523000	0.50628|0.50628	GAT|TGG	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404180.1		-	ENST00000429094.2	Missense_Mutation	SNP	12 : 44917143 - 44917143 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	893	91
NFATC2	4773	broad.mit.edu	37	20	50140613	50140613	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:50140613G>A	ENST00000371564.3	-	2	386	c.167C>T	c.(166-168)tCc>tTc	p.S56F	NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000414705.1_Missense_Mutation_p.S36F|NFATC2_ENST00000396009.3_Missense_Mutation_p.S56F|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.S36F	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	56					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGCGGGTCCGGAGGGTGGGCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	57	54			NA	NA	20		NA											NA				50140613		2202	4300	6502	SO:0001583	missense			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096	4773	4773		Nuclear factor of activated T-cells	7776	protein-coding gene	gene with protein product		600490			NA	8202141	Standard	NM_012340	NM_012340	NA	Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000371564.3:c.167C>T	20.37:g.50140613G>A	ENSP00000360619:p.Ser56Phe	NA	Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	37	CCDS33488.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577607	0.65878	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.18016	2.26;2.26;2.24	5.13	5.13	0.70059	.	0.428509	0.25903	N	0.027548	T	0.30479	0.0766	N	0.22421	0.69	0.50039	D	0.999842	D;D;D;D	0.71674	0.997;0.998;0.998;0.998	P;D;D;D	0.78314	0.897;0.991;0.943;0.987	T	0.07501	-1.0769	10	0.54805	T	0.06	-28.7684	18.9234	0.92536	0.0:0.0:1.0:0.0	.	36;36;56;56	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	F	56;56;36	ENSP00000360619:S56F;ENSP00000379330:S56F;ENSP00000396471:S36F	ENSP00000360619:S56F	S	-	2	0	NFATC2	49574020	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.705000	0.91357	2.550000	0.86006	0.313000	0.20887	TCC	NFATC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079729.2		-	ENST00000371564.3	Missense_Mutation	SNP	20 : 50140613 - 50140613 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	459	25
NKX2-2	4821	broad.mit.edu	37	20	21492879	21492879	+	Silent	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:21492879C>T	ENST00000377142.4	-	2	860	c.504G>A	c.(502-504)acG>acA	p.T168T	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	168					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCTGCGTGGGCGTGAGGCGGA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	43	42			NA	NA	20		NA											NA				21492879		2202	4300	6502	SO:0001819	synonymous_variant			AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820	4821	4821		Homeoboxes / ANTP class : NKL subclass	7835	protein-coding gene	gene with protein product		604612	NK-2 (Drosophila) homolog B, NK2 transcription factor related, locus 2 (Drosophila)	NKX2B	NA	9703340, 1346742	Standard		NM_002509	NA	Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.504G>A	20.37:g.21492879C>T		NA		37	CCDS13145.1																																																																																			NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078278.9		-	ENST00000377142.4	Silent	SNP	20 : 21492879 - 21492879 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	209	26
NLRC5	84166	broad.mit.edu	37	16	57060803	57060803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:57060803G>A	ENST00000262510.6	+	6	2173	c.1948G>A	c.(1948-1950)Gac>Aac	p.D650N	NLRC5_ENST00000539144.1_Missense_Mutation_p.D650N|NLRC5_ENST00000436936.1_Missense_Mutation_p.D650N|NLRC5_ENST00000308149.7_Missense_Mutation_p.D650N	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	650					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GACCTGCACCGACCTGGCCAC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	92	101			NA	NA	16		NA											NA				57060803		2198	4300	6498	SO:0001583	missense			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853	84166	84166		Nucleotide-binding domain and leucine rich repeat containing	29933	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5, NOD-like receptor C5	613537			NA	12615073	Standard	NM_032206	NM_032206	NA	Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1948G>A	16.37:g.57060803G>A	ENSP00000262510:p.Asp650Asn	NA	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	37	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.20|16.20	3.055616|3.055616	0.55325|0.55325	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030|ENST00000538805	T;T;T;T;T;T|.	0.54675|.	0.56;0.56;0.56;0.56;0.56;0.56|.	5.52|5.52	4.57|4.57	0.56435|0.56435	.|.	0.000000|.	0.36591|.	N|.	0.002501|.	T|T	0.70011|0.70011	0.3175|0.3175	M|M	0.79475|0.79475	2.455|2.455	0.33435|0.33435	D|D	0.581619|0.581619	D;D;D;D|.	0.89917|.	1.0;1.0;0.993;0.992|.	D;D;P;D|.	0.97110|.	1.0;1.0;0.88;0.915|.	T|T	0.79398|0.79398	-0.1820|-0.1820	10|5	0.41790|.	T|.	0.15|.	.|.	13.374|13.374	0.60728|0.60728	0.0759:0.0:0.9241:0.0|0.0759:0.0:0.9241:0.0	.|.	650;650;650;650|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	N|Q	650;650;650;124;650;157;5|402	ENSP00000262510:D650N;ENSP00000308886:D650N;ENSP00000389739:D650N;ENSP00000441727:D650N;ENSP00000441597:D157N;ENSP00000440153:D5N|.	ENSP00000262510:D650N|.	D|R	+|+	1|2	0|0	NLRC5|NLRC5	55618304|55618304	1.000000|1.000000	0.71417|0.71417	0.861000|0.861000	0.33841|0.33841	0.050000|0.050000	0.14768|0.14768	6.066000|6.066000	0.71185|0.71185	1.338000|1.338000	0.45544|0.45544	0.561000|0.561000	0.74099|0.74099	GAC|CGA	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257346.1		+	ENST00000262510.6	Missense_Mutation	SNP	16 : 57060803 - 57060803 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	481	21
NOTCH3	4854	broad.mit.edu	37	19	15271507	15271507	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:15271507G>A	ENST00000263388.2	-	33	7007	c.6932C>T	c.(6931-6933)cCg>cTg	p.P2311L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2311					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)			GGTAACTTCCGGCTGGGGCCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	59	56			NA	NA	19		NA											NA				15271507		2202	4300	6502	SO:0001583	missense			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.6932C>T	19.37:g.15271507G>A	ENSP00000263388:p.Pro2311Leu	NA	Q9UEB3|Q9UPL3|Q9Y6L8	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390466	0.25118	.	.	ENSG00000074181	ENST00000263388	T	0.81247	-1.47	3.99	3.99	0.46301	.	.	.	.	.	T	0.59390	0.2190	N	0.08118	0	0.21105	N	0.999789	P	0.34587	0.458	B	0.19391	0.025	T	0.55685	-0.8102	9	0.87932	D	0	.	9.199	0.37246	0.1056:0.0:0.8944:0.0	.	2311	Q9UM47	NOTC3_HUMAN	L	2311	ENSP00000263388:P2311L	ENSP00000263388:P2311L	P	-	2	0	NOTCH3	15132507	0.858000	0.29795	0.387000	0.26183	0.565000	0.35776	2.105000	0.41825	1.948000	0.56530	0.591000	0.81541	CCG	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465714.1		-	ENST00000263388.2	Missense_Mutation	SNP	19 : 15271507 - 15271507 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	468	51
NUTM2F	54754	broad.mit.edu	37	9	97084541	97084541	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:97084541G>A	ENST00000253262.4	-	3	804	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	NUTM2F_ENST00000335456.7_Missense_Mutation_p.R262W|NUTM2F_ENST00000341207.4_Missense_Mutation_p.R262W	NM_017561.1	NP_060031.1			NUT family member 2F	NA											NA						TGCCATTCCCGCATGGCCTGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	75	71			NA	NA	9		NA											NA				97084541		1425	2647	4072	SO:0001583	missense				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950	54754	54754			23450	protein-coding gene	gene with protein product			family with sequence similarity 22, member F	FAM22F	NA		Standard	NM_017561	NM_017561	NA	Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.784C>T	9.37:g.97084541G>A	ENSP00000253262:p.Arg262Trp	NA		37	CCDS47994.1	.	.	.	.	.	.	.	.	.	.	.	14.33	2.502628	0.44455	.	.	ENSG00000130950	ENST00000335456;ENST00000253262;ENST00000341207	T;T;T	0.25749	1.78;1.78;1.78	1.2	1.2	0.21068	Nuclear Testis  protein, N-terminal (1);	0.442996	0.19174	N	0.120859	T	0.36413	0.0966	L	0.47716	1.5	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.03394	-1.1041	10	0.87932	D	0	.	5.8356	0.18605	0.0:0.0:1.0:0.0	.	262	A1L443	FA22F_HUMAN	W	262	ENSP00000335067:R262W;ENSP00000253262:R262W;ENSP00000343865:R262W	ENSP00000253262:R262W	R	-	1	2	FAM22F	96124362	0.923000	0.31300	0.054000	0.19295	0.300000	0.27592	2.409000	0.44583	0.992000	0.38840	0.456000	0.33151	CGG	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053173.2		-	ENST00000253262.4	Missense_Mutation	SNP	9 : 97084541 - 97084541 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	462	7
OR11H1	81061	broad.mit.edu	37	22	16449649	16449649	+	Silent	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr22:16449649C>T	ENST00000252835.4	-	1	156	c.156G>A	c.(154-156)ctG>ctA	p.L52L		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		CTGTTATAGTCAGTGCATATG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	103	103			NA	NA	22		NA											NA				16449649		1501	3161	4662	SO:0001819	synonymous_variant			AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538	81061	81061		GPCR / Class A : Olfactory receptors	15404	protein-coding gene	gene with protein product					NA	12213199	Standard	NM_001005239	NM_001005239	NA	Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.156G>A	22.37:g.16449649C>T		NA	Q6IEX0|Q96R32	37	CCDS33594.1																																																																																			OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000074923.2		-	ENST00000252835.4	Silent	SNP	22 : 16449649 - 16449649 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	999	42
OR2L13	284521	broad.mit.edu	37	1	248262826	248262826	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:248262826T>G	ENST00000358120.2	+	2	294	c.149T>G	c.(148-150)gTg>gGg	p.V50G	OR2L13_ENST00000366478.2_Missense_Mutation_p.V50G			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CTCATCCACGTGGATCCTCGT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													229	214	219			NA	NA	1		NA											NA				248262826		2203	4300	6503	SO:0001583	missense			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071	284521	284521		GPCR / Class A : Olfactory receptors	19578	protein-coding gene	gene with protein product				OR2L14	NA		Standard	NM_175911	NM_175911	NA	Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.149T>G	1.37:g.248262826T>G	ENSP00000350836:p.Val50Gly	NA	Q5VUR5	37	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	T	8.900	0.956010	0.18507	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.03004	4.08;4.08	4.07	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.615698	0.13314	N	0.397234	T	0.02807	0.0084	L	0.28014	0.82	0.09310	N	1	B	0.24258	0.1	B	0.21708	0.036	T	0.44697	-0.9311	10	0.54805	T	0.06	.	2.5302	0.04701	0.2215:0.1561:0.0:0.6224	.	50	Q8N349	OR2LD_HUMAN	G	50	ENSP00000355434:V50G;ENSP00000350836:V50G	ENSP00000350836:V50G	V	+	2	0	OR2L13	246329449	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	-3.499000	0.00450	0.580000	0.29522	0.528000	0.53228	GTG	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097342.1		+	ENST00000358120.2	Missense_Mutation	SNP	1 : 248262826 - 248262826 G PAAD-TCGA-IB-7647-Tumor-SM-2NW82	732	29
OTOF	9381	broad.mit.edu	37	2	26702178	26702178	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:26702178C>T	ENST00000272371.2	-	18	2294	c.2168G>A	c.(2167-2169)cGc>cAc	p.R723H	OTOF_ENST00000403946.3_Missense_Mutation_p.R723H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	723					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAGAGGCGGCGGCGCTGGTC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(102;732 1451 20652 24062 31372)							NA				0													27	29	29			NA	NA	2		NA											NA				26702178		2200	4298	6498	SO:0001583	missense			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155	9381	9381			8515	protein-coding gene	gene with protein product	fer-1-like family member 2	603681		DFNB9	NA	10192385, 18381613	Standard		NM_194248	NA	Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2168G>A	2.37:g.26702178C>T	ENSP00000272371:p.Arg723His	NA	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888835	0.91814	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.80123	-1.34;-1.34	4.54	4.54	0.55810	.	0.051541	0.64402	D	0.000001	D	0.84215	0.5423	M	0.82056	2.57	0.54753	D	0.999985	D	0.54397	0.966	P	0.50231	0.635	T	0.82952	-0.0202	10	0.15066	T	0.55	-18.8365	15.9074	0.79442	0.0:1.0:0.0:0.0	.	723	Q9HC10	OTOF_HUMAN	H	723	ENSP00000272371:R723H;ENSP00000385255:R723H	ENSP00000272371:R723H	R	-	2	0	OTOF	26555682	0.983000	0.35010	0.997000	0.53966	0.970000	0.65996	5.961000	0.70356	2.074000	0.62210	0.555000	0.69702	CGC	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214047.3		-	ENST00000272371.2	Missense_Mutation	SNP	2 : 26702178 - 26702178 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	119	15
PARP14	54625	broad.mit.edu	37	3	122422822	122422822	+	Silent	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:122422822C>T	ENST00000474629.2	+	7	3581	c.3315C>T	c.(3313-3315)ctC>ctT	p.L1105L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1105	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CATCTTCACTCAAGGTTGGGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	112	111			NA	NA	3		NA											NA				122422822		1971	4147	6118	SO:0001819	synonymous_variant			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193	54625	54625		Poly (ADP-ribose) polymerases	29232	protein-coding gene	gene with protein product		610028			NA	15273990	Standard	NM_017554	NM_017554	NA	Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3315C>T	3.37:g.122422822C>T		NA	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	37	CCDS46894.1																																																																																			PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356173.2		+	ENST00000474629.2	Silent	SNP	3 : 122422822 - 122422822 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	443	8
PCDHA2	56146	broad.mit.edu	37	5	140176361	140176361	+	Silent	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr5:140176361C>T	ENST00000520672.2	+	1	1918	c.1812C>T	c.(1810-1812)aaC>aaT	p.N604N	PCDHA2_ENST00000378132.1_Silent_p.N604N|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Silent_p.N604N	NM_031496.1	NP_113684.1			protocadherin alpha 2	NA								p.N604N(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGCTACAACGCGTGGCTTT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	large_intestine(2)											154	139	144			NA	NA	5		NA											NA				140176361		2203	4300	6503	SO:0001819	synonymous_variant			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969	56146	56146		Cadherins / Protocadherins : Clustered	8668	other	complex locus constituent	KIAA0345-like 12	606308			NA	10380929	Standard	NM_018905	NM_018905	NA	Approved			Q9Y5H9		ENST00000520672.2:c.1812C>T	5.37:g.140176361C>T		NA		37																																																																																				PCDHA2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000374265.2		+	ENST00000520672.2	Silent	SNP	5 : 140176361 - 140176361 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	445	29
PGAP2	27315	broad.mit.edu	37	11	3838588	3838588	+	Silent	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:3838588G>A	ENST00000493547.2	+	3	243				PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000278243.4_Silent_p.T57T|PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000463452.2_Intron|PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000300730.6_Intron|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000396991.2_Silent_p.T57T	NM_001256238.1	NP_001243167.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	NA					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CTTAGGCCACGCCCTGCAGGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	106	109			NA	NA	11		NA											NA				3838588		2201	4298	6499	SO:0001627	intron_variant			AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985	27315	27315			17893	protein-coding gene	gene with protein product	FGF receptor activating protein 1, cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)	615187	mental retardation, non-syndromic, autosomal recessive, 21	MRT21	NA	10585768, 16407401, 23561846	Standard		NM_014489	NA	Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000493547.2:c.165+5934G>A	11.37:g.3838588G>A		NA	Q6UC77|Q96G66|Q9UF01|Q9Y4N1	37	CCDS58113.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433703	0.43224	.	.	ENSG00000148985	ENST00000464906	.	.	.	5.53	3.17	0.36434	.	.	.	.	.	T	0.46639	0.1403	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36335	-0.9752	4	.	.	.	-6.5099	3.4615	0.07535	0.0:0.1383:0.2448:0.617	.	.	.	.	H	87	.	.	R	+	2	0	PGAP2	3795164	0.998000	0.40836	0.998000	0.56505	0.948000	0.59901	1.221000	0.32503	0.919000	0.36945	-0.275000	0.10095	CGC	PGAP2-015	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033999.3		+	ENST00000493547.2	Intron	SNP	11 : 3838588 - 3838588 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	501	58
PIK3CA	5290	broad.mit.edu	37	3	178948163	178948163	+	Splice_Site	SNP	A	A	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:178948163A>G	ENST00000263967.3	+	20	3092	c.2935A>G	c.(2935-2937)Agg>Ggg	p.R979G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	979	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)			AGAATTTGAGAGGTGAGCTCG	0.338		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													65	63	64			NA	NA	3		NA											NA				178948163		1803	4073	5876	SO:0001630	splice_region_variant				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.2936+1A>G	3.37:g.178948163A>G		NA	Q14CW1|Q99762	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	18.36	3.606615	0.66558	.	.	ENSG00000121879	ENST00000263967	T	0.75938	-0.98	4.99	4.99	0.66335	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.73590	0.3606	L	0.55213	1.73	0.80722	D	1	P	0.45827	0.867	P	0.45071	0.468	T	0.75297	-0.3367	10	0.44086	T	0.13	-11.9936	14.9656	0.71188	1.0:0.0:0.0:0.0	.	979	P42336	PK3CA_HUMAN	G	979	ENSP00000263967:R979G	ENSP00000263967:R979G	R	+	1	2	PIK3CA	180430857	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.842000	0.75379	1.990000	0.58119	0.477000	0.44152	AGG	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348409.2	Missense_Mutation	+	ENST00000263967.3	Splice_Site	SNP	3 : 178948163 - 178948163 G PAAD-TCGA-IB-7647-Tumor-SM-2NW82	526	65
PPP1R9A	55607	broad.mit.edu	37	7	94740662	94740662	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr7:94740662G>A	ENST00000433360.1	+	3	1769	c.1487G>A	c.(1486-1488)cGt>cAt	p.R496H	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.R496H|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.R496H|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.R496H|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.R496H|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.R496H	NM_001166160.1	NP_001159632.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	496	Interacts with protein phosphatase 1 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTTGAAAAACGTGTAGAAAAG	0.383		NA								HNSCC(28;0.073)			G	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	2e-04	0.0013	NA	NA	5e-04	0.9049	EXOME	NA	NA	0.0024	SNP								NA				0													69	71	70			NA	NA	7		NA											NA				94740662		2203	4300	6503	SO:0001583	missense			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528	55607	55607		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Sterile alpha motif (SAM) domain containing	14946	protein-coding gene	gene with protein product		602468	protein phosphatase 1, regulatory (inhibitor) subunit 9A		NA	10574462	Standard	NM_001166160	NM_001166160	NA	Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433360.1:c.1487G>A	7.37:g.94740662G>A	ENSP00000405514:p.Arg496His	NA	O76059|Q9NXT2	37	CCDS55127.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.83	3.899587	0.72754	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	4.98	4.98	0.66077	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D	0.89917	0.981;0.987;0.989;1.0;1.0	P;P;P;D;D	0.79784	0.59;0.767;0.819;0.988;0.993	T	0.72268	-0.4343	10	0.87932	D	0	.	18.8349	0.92157	0.0:0.0:1.0:0.0	.	496;496;496;496;496	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	H	496	ENSP00000405514:R496H;ENSP00000344524:R496H;ENSP00000411342:R496H;ENSP00000398870:R496H;ENSP00000289495:R496H;ENSP00000402893:R496H	ENSP00000289495:R496H	R	+	2	0	PPP1R9A	94578598	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	9.587000	0.98229	2.755000	0.94549	0.650000	0.86243	CGT	PPP1R9A-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340664.1		+	ENST00000433360.1	Missense_Mutation	SNP	7 : 94740662 - 94740662 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	345	17
RAB40B	10966	broad.mit.edu	37	17	80615798	80615798	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:80615798C>T	ENST00000269347.6	-	7	1333	c.241G>A	c.(241-243)Gtc>Atc	p.V81I	RAB40B_ENST00000571995.1_Missense_Mutation_p.V260I|RAB40B_ENST00000538809.2_3'UTR			Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	260					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GGGGGGCGGACGAGCTTCACT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	94	90			NA	NA	17		NA											NA				80615798		2203	4300	6503	SO:0001583	missense			U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542	10966	10966		RAB, member RAS oncogene	18284	protein-coding gene	gene with protein product					NA	11697911	Standard		NM_006822	NA	Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000269347.6:c.241G>A	17.37:g.80615798C>T	ENSP00000269347:p.Val81Ile	NA	Q8WVG3	37		.	.	.	.	.	.	.	.	.	.	C	2.276	-0.365935	0.05069	.	.	ENSG00000141542	ENST00000269347;ENST00000538809	.	.	.	4.79	-9.58	0.00559	.	2.176640	0.02755	N	0.117936	T	0.05868	0.0153	N	0.00308	-1.67	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13683	-1.0500	9	0.02654	T	1	.	7.8491	0.29444	0.0702:0.0823:0.1585:0.6889	.	260	Q12829	RB40B_HUMAN	I	260;294	.	ENSP00000269347:V260I	V	-	1	0	RAB40B	78209087	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.991000	0.03728	-3.220000	0.00212	-0.244000	0.11960	GTC	RAB40B-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000439009.1		-	ENST00000269347.6	Missense_Mutation	SNP	17 : 80615798 - 80615798 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	744	14
RTN4RL1	146760	broad.mit.edu	37	17	1840990	1840990	+	Silent	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:1840990C>T	ENST00000331238.6	-	2	605	c.126G>A	c.(124-126)gcG>gcA	p.A42A		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	NA	LRRNT.				axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CAAAGTTGTGCGCCTGGCAGC	0.672		NA											C	2	9e-04	NA	0.01	2184	NA	0.9995	,	,	NA	4e-04	NA	NA	NA	0.0012	0.7995	EXOME	NA	NA	7e-04	SNP	GBM(68;949 1139 14865 32798 38342)							NA				0													38	47	44			NA	NA	17		NA											NA				1840990		2149	4248	6397	SO:0001819	synonymous_variant			AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924	146760	146760			21329	protein-coding gene	gene with protein product	nogo-66 receptor homolog 2	610461			NA		Standard	NM_178568	NM_178568	NA	Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.126G>A	17.37:g.1840990C>T		NA	A1A5E3|Q8ND46	37	CCDS45569.1																																																																																			RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450155.2		-	ENST00000331238.6	Silent	SNP	17 : 1840990 - 1840990 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	114	21
RYR1	6261	broad.mit.edu	37	19	38976522	38976522	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:38976522G>A	ENST00000355481.4	+	34	5358	c.5227G>A	c.(5227-5229)Gcc>Acc	p.A1743T	RYR1_ENST00000360985.3_Missense_Mutation_p.A1743T|RYR1_ENST00000359596.3_Missense_Mutation_p.A1743T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1743	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGAGACCCGCGCCATCACGCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	62	63			NA	NA	19		NA											NA				38976522		2203	4300	6503	SO:0001583	missense			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218	6261	6261		Ion channels / Ryanodine receptors	10483	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 137	180901	central core disease of muscle	MHS, MHS1, CCO	NA	1862346, 16621918	Standard		NM_000540	NA	Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000355481.4:c.5227G>A	19.37:g.38976522G>A	ENSP00000347667:p.Ala1743Thr	NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297479	0.40694	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.72615	-0.67;-0.67;-0.67	3.77	1.49	0.22878	.	0.137822	0.45126	U	0.000388	T	0.41581	0.1165	N	0.14661	0.345	0.29121	N	0.880273	B;B	0.33940	0.433;0.274	B;B	0.26614	0.071;0.056	T	0.23368	-1.0190	10	0.19590	T	0.45	.	4.2144	0.10528	0.5402:0.0:0.4598:0.0	.	1743;1743	P21817-2;P21817	.;RYR1_HUMAN	T	1743	ENSP00000352608:A1743T;ENSP00000347667:A1743T;ENSP00000354254:A1743T	ENSP00000347667:A1743T	A	+	1	0	RYR1	43668362	0.108000	0.22018	1.000000	0.80357	0.613000	0.37349	0.876000	0.28092	0.796000	0.33947	-0.225000	0.12378	GCC	RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2		+	ENST00000355481.4	Missense_Mutation	SNP	19 : 38976522 - 38976522 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	440	51
SEC31B	25956	broad.mit.edu	37	10	102262171	102262171	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:102262171C>T	ENST00000370345.3	-	11	1347	c.1250G>A	c.(1249-1251)cGc>cAc	p.R417H	SEC31B_ENST00000451524.1_Missense_Mutation_p.R417H	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	417					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GAAGACTAGGCGGGGGCAAGG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	62	63	62		1250	-1	0.2	10		62	0,8600		0,0,4300	no	missense	SEC31B	NM_015490.3	29	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign	417/1180	102262171	1,13005	2203	4300	6503	SO:0001583	missense			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826	25956	25956		WD repeat domain containing	23197	protein-coding gene	gene with protein product		610258	SEC31-like 2 (S. cerevisiae)	SEC31L2	NA	16495487	Standard	NM_015490	NM_015490	NA	Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1250G>A	10.37:g.102262171C>T	ENSP00000359370:p.Arg417His	NA	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	37	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	c	7.417	0.635990	0.14386	2.27E-4	0.0	ENSG00000075826	ENST00000370345;ENST00000451524	T;T	0.59083	0.66;0.29	5.38	-1.01	0.10169	.	0.242628	0.49305	N	0.000156	T	0.39627	0.1085	L	0.31926	0.97	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.16778	-1.0391	10	0.14656	T	0.56	-0.3817	11.439	0.50086	0.0:0.5274:0.0:0.4726	.	416;417	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	H	417	ENSP00000359370:R417H;ENSP00000391178:R417H	ENSP00000359370:R417H	R	-	2	0	SEC31B	102252161	0.334000	0.24739	0.219000	0.23793	0.509000	0.34042	-0.023000	0.12456	-0.190000	0.10465	-0.227000	0.12334	CGC	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051198.1		-	ENST00000370345.3	Missense_Mutation	SNP	10 : 102262171 - 102262171 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	427	57
SLC37A1	54020	broad.mit.edu	37	21	43999848	43999848	+	Silent	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr21:43999848C>T	ENST00000352133.2	+	19	2506	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	SLC37A1_ENST00000398341.3_Silent_p.F508F			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	508					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						TGGTGCAGTTCCTGATCCGCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	61	67			NA	NA	21		NA											NA				43999848		2203	4300	6503	SO:0001819	synonymous_variant			AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190	54020	54020		Solute carriers	11024	protein-coding gene	gene with protein product		608094	solute carrier family 37 (glycerol-3-phosphate transporter), member 1		NA	11112347	Standard		NM_018964	NA	Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.1524C>T	21.37:g.43999848C>T		NA	D3DSJ7|Q9HAQ1	37	CCDS13689.1																																																																																			SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195377.1		+	ENST00000352133.2	Silent	SNP	21 : 43999848 - 43999848 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	188	20
ST8SIA6	338596	broad.mit.edu	37	10	17363212	17363212	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:17363212C>T	ENST00000377602.4	-	8	936	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	288					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TTAGACTCTTCGAGCGTGTAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	153	151			NA	NA	10		NA											NA				17363212		2203	4300	6503	SO:0001583	missense				CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488	338596	338596		Sialyltransferases	23317	protein-coding gene	gene with protein product	ST8Sia VI	610139	sialyltransferase 8F (alpha-2, 8-sialyltransferase)	SIAT8F	NA	11980897	Standard	NM_001004470	XR_242697	NA	Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.862G>A	10.37:g.17363212C>T	ENSP00000366827:p.Glu288Lys	NA	B0YJ97|B9EH72|Q5VZH4	37	CCDS31158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.010|0.010	-1.793994|-1.793994	0.00617|0.00617	.|.	.|.	ENSG00000148488|ENSG00000148488	ENST00000377610;ENST00000377602|ENST00000440449	T|.	0.28454|.	1.61|.	5.18|5.18	1.42|1.42	0.22433|0.22433	.|.	0.613081|.	0.19292|.	N|.	0.117871|.	T|T	0.09423|0.09423	0.0232|0.0232	N|N	0.01874|0.01874	-0.695|-0.695	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.04013|.	0.001|.	T|T	0.32025|0.32025	-0.9922|-0.9922	10|5	0.02654|.	T|.	1|.	-14.1943|-14.1943	5.6706|5.6706	0.17721|0.17721	0.0:0.2239:0.2137:0.5624|0.0:0.2239:0.2137:0.5624	.|.	288|.	P61647|.	SIA8F_HUMAN|.	K|Q	118;288|108	ENSP00000366827:E288K|.	ENSP00000366827:E288K|.	E|R	-|-	1|2	0|0	ST8SIA6|ST8SIA6	17403218|17403218	0.060000|0.060000	0.20803|0.20803	0.011000|0.011000	0.14972|0.14972	0.107000|0.107000	0.19398|0.19398	1.102000|1.102000	0.31050|0.31050	0.533000|0.533000	0.28675|0.28675	-0.312000|-0.312000	0.09012|0.09012	GAA|CGA	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047036.1		-	ENST00000377602.4	Missense_Mutation	SNP	10 : 17363212 - 17363212 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	1139	28
TAS2R31	259290	broad.mit.edu	37	12	11183165	11183165	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:11183165T>C	ENST00000390675.2	-	1	841	c.770A>G	c.(769-771)aAc>aGc	p.N257S	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	257					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						GACAGGTTTGTTTTCCAGACT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	213	210			NA	NA	12		NA											NA				11183165		2164	4282	6446	SO:0001583	missense			AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436	259290	259290		Taste receptors / Type 2, GPCR / Unclassified : Taste receptors	19113	protein-coding gene	gene with protein product		612669	taste receptor, type 2, member 44	TAS2R44	NA		Standard	NM_176885	NM_176885	NA	Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.770A>G	12.37:g.11183165T>C	ENSP00000375093:p.Asn257Ser	NA	P59547|Q17R84|Q645X5	37	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	.	5.489	0.275150	0.10403	.	.	ENSG00000256436	ENST00000390675	T	0.00760	5.73	2.45	-0.013	0.13986	.	.	.	.	.	T	0.00906	0.0030	L	0.42487	1.325	0.09310	N	1	B	0.26672	0.156	B	0.33799	0.17	T	0.46148	-0.9212	9	0.26408	T	0.33	.	4.233	0.10613	0.0:0.3766:0.0:0.6234	.	257	P59538	T2R31_HUMAN	S	257	ENSP00000375093:N257S	ENSP00000375093:N257S	N	-	2	0	TAS2R31	11074432	0.000000	0.05858	0.003000	0.11579	0.023000	0.10783	0.106000	0.15354	0.198000	0.20407	0.163000	0.16589	AAC	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400233.1		-	ENST00000390675.2	Missense_Mutation	SNP	12 : 11183165 - 11183165 C PAAD-TCGA-IB-7647-Tumor-SM-2NW82	1431	21
TBX5	6910	broad.mit.edu	37	12	114836449	114836449	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:114836449G>T	ENST00000310346.4	-	5	1105	c.439C>A	c.(439-441)Cat>Aat	p.H147N	TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Missense_Mutation_p.H147N|TBX5_ENST00000526441.1_Missense_Mutation_p.H147N|TBX5_ENST00000349716.5_Missense_Mutation_p.H97N	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	147					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTCATCCAATGCGCCCCGGTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(152;1358 1980 4050 23898 40356)							NA				0													76	60	65			NA	NA	12		NA											NA				114836449		2203	4300	6503	SO:0001583	missense			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225	6910	6910		T-boxes	11604	protein-coding gene	gene with protein product		601620		HOS	NA	8988165, 8054982	Standard	NM_080717	NM_000192	NA	Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.439C>A	12.37:g.114836449G>T	ENSP00000309913:p.His147Asn	NA	O15301|Q9Y4I2	37	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143320	0.77888	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	4.35	4.35	0.52113	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92971	0.7763	M	0.77103	2.36	0.80722	D	1	D;D	0.65815	0.995;0.988	D;D	0.66979	0.948;0.947	D	0.93955	0.7235	10	0.72032	D	0.01	.	17.429	0.87534	0.0:0.0:1.0:0.0	.	147;147	Q99593-2;Q99593	.;TBX5_HUMAN	N	97;147;44;147;147	ENSP00000337723:H97N;ENSP00000309913:H147N;ENSP00000384152:H147N;ENSP00000433292:H147N	ENSP00000309913:H147N	H	-	1	0	TBX5	113320832	1.000000	0.71417	0.733000	0.30861	0.486000	0.33341	9.581000	0.98210	2.392000	0.81423	0.655000	0.94253	CAT	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388297.1		-	ENST00000310346.4	Missense_Mutation	SNP	12 : 114836449 - 114836449 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	110	16
TCF7L1	83439	broad.mit.edu	37	2	85533483	85533483	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:85533483A>T	ENST00000282111.3	+	9	1419	c.1144A>T	c.(1144-1146)Aga>Tga	p.R382*		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	382					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						GATCCTTGGAAGAAAGGTAAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	111	115			NA	NA	2		NA											NA				85533483		2203	4300	6503	SO:0001587	stop_gained			X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284	83439	83439			11640	protein-coding gene	gene with protein product		604652		TCF3	NA	1741298, 11085512	Standard	NM_031283	NM_031283	NA	Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1144A>T	2.37:g.85533483A>T	ENSP00000282111:p.Arg382*	NA	Q53R97|Q6PD70|Q9NP00	37	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.644390	0.87859	.	.	ENSG00000152284	ENST00000282111	.	.	.	5.17	2.67	0.31697	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7191	0.46030	0.5148:0.4852:0.0:0.0	.	.	.	.	X	382	.	ENSP00000282111:R382X	R	+	1	2	TCF7L1	85386994	0.082000	0.21442	0.979000	0.43373	0.034000	0.12701	0.726000	0.25984	0.257000	0.21650	-0.435000	0.05868	AGA	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252301.2		+	ENST00000282111.3	Nonsense_Mutation	SNP	2 : 85533483 - 85533483 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	273	11
TECR	9524	broad.mit.edu	37	19	14674472	14674472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:14674472C>T	ENST00000215567.5	+	4	258	c.121C>T	c.(121-123)Ccg>Tcg	p.P41S	TECR_ENST00000596073.1_5'UTR|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000436007.2_Missense_Mutation_p.P56S|TECR_ENST00000596164.1_3'UTR	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	41					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						CCCCGCAGATCCGCAGTGGTA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	28	27			NA	NA	19		NA											NA				14674472		2203	4298	6501	SO:0001583	missense			AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797	9524	9524			4551	protein-coding gene	gene with protein product		610057	glycoprotein, synaptic 2	SC2, GPSN2	NA	9653160, 12482854	Standard	NM_138501	NM_138501	NA	Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.121C>T	19.37:g.14674472C>T	ENSP00000215567:p.Pro41Ser	NA	B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	37	CCDS12313.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409144	0.62399	.	.	ENSG00000099797	ENST00000215567;ENST00000436007	T;T	0.46451	0.87;0.87	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.58206	0.2106	L	0.48218	1.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.56335	-0.7996	10	0.45353	T	0.12	-10.426	16.3276	0.82990	0.0:1.0:0.0:0.0	.	41;56;41	B3KM97;B3KSQ1;Q9NZ01	.;.;TECR_HUMAN	S	41;56	ENSP00000215567:P41S;ENSP00000397206:P56S	ENSP00000215567:P41S	P	+	1	0	TECR	14535472	1.000000	0.71417	0.989000	0.46669	0.027000	0.11550	4.298000	0.59067	2.462000	0.83206	0.561000	0.74099	CCG	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466000.1		+	ENST00000215567.5	Missense_Mutation	SNP	19 : 14674472 - 14674472 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	243	15
TMCC2	9911	broad.mit.edu	37	1	205241064	205241064	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:205241064A>G	ENST00000358024.3	+	5	2331	c.1942A>G	c.(1942-1944)Aac>Gac	p.N648D	TMCC2_ENST00000330675.7_Missense_Mutation_p.N423D|TMCC2_ENST00000545499.1_Missense_Mutation_p.N570D|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000329800.7_Missense_Mutation_p.N408D	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	648						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAAGTTCATCAACGTGATCCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													209	168	182			NA	NA	1		NA											NA				205241064		2203	4300	6503	SO:0001583	missense			AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069	9911	9911		Transmembrane and coiled-coil domain containing	24239	protein-coding gene	gene with protein product			transmembrane and coiled-coil domains 2		NA	9455484	Standard	NM_014858	NM_014858	NA	Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1942A>G	1.37:g.205241064A>G	ENSP00000350718:p.Asn648Asp	NA	A2RRH3|Q6ZN09	37	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	A	32	5.136024	0.94517	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000330675;ENST00000329800	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.75831	0.3903	M	0.88181	2.935	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.69479	0.94;0.964;0.964	T	0.81191	-0.1045	10	0.72032	D	0.01	.	15.1067	0.72326	1.0:0.0:0.0:0.0	.	408;423;648	G5E963;B2RAX5;O75069	.;.;TMCC2_HUMAN	D	648;570;423;408	ENSP00000350718:N648D;ENSP00000437943:N570D;ENSP00000331842:N423D;ENSP00000329436:N408D	ENSP00000329436:N408D	N	+	1	0	TMCC2	203507687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.233000	0.73108	0.533000	0.62120	AAC	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090383.1		+	ENST00000358024.3	Missense_Mutation	SNP	1 : 205241064 - 205241064 G PAAD-TCGA-IB-7647-Tumor-SM-2NW82	658	75
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151	112	125			NA	NA	17		NA											NA				7577539		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.742C>T	17.37:g.7577539G>A	ENSP00000391127:p.Arg248Trp	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	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	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577539 - 7577539 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	298	45
TRAPPC9	83696	broad.mit.edu	37	8	141285777	141285777	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr8:141285777G>A	ENST00000389328.4	-	15	2566	c.2552C>T	c.(2551-2553)tCg>tTg	p.S851L	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.S753L|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S744L	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	753					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GAGAACTTTCGAGGTGACCTC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	141	147			NA	NA	8		NA											NA				141285777		2203	4300	6503	SO:0001583	missense			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632	83696	83696		Trafficking protein particle complex	30832	protein-coding gene	gene with protein product	TRAPP 120 kDa subunit, tularik gene 1	611966			NA	11572484	Standard	NM_031466	NM_031466	NA	Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000389328.4:c.2552C>T	8.37:g.141285777G>A	ENSP00000373979:p.Ser851Leu	NA	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	37	CCDS34946.1	.	.	.	.	.	.	.	.	.	.	G	7.547	0.661990	0.14645	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	4.44	4.44	0.53790	.	0.065979	0.64402	D	0.000008	T	0.40222	0.1108	N	0.20530	0.585	0.49389	D	0.99978	B;B;B;B	0.18610	0.029;0.016;0.004;0.008	B;B;B;B	0.14578	0.011;0.005;0.001;0.006	T	0.31696	-0.9934	9	0.06494	T	0.89	.	17.2919	0.87159	0.0:0.0:1.0:0.0	.	851;753;744;851	A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2	.;TPPC9_HUMAN;.;.	L	851;744;753	.	ENSP00000373978:S744L	S	-	2	0	TRAPPC9	141354959	1.000000	0.71417	0.935000	0.37517	0.889000	0.51656	9.035000	0.93752	2.303000	0.77524	0.655000	0.94253	TCG	TRAPPC9-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377711.3		-	ENST00000389328.4	Missense_Mutation	SNP	8 : 141285777 - 141285777 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	451	7
TSC22D1	8848	broad.mit.edu	37	13	45147422	45147422	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr13:45147422C>A	ENST00000458659.2	-	1	3279	c.2789G>T	c.(2788-2790)gGt>gTt	p.G930V	TSC22D1_ENST00000460842.1_5'UTR|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	930					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CCCACTGTCACCACTGATAGT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	104	106			NA	NA	13		NA											NA				45147422		2203	4300	6503	SO:0001583	missense			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804	8848	8848			16826	protein-coding gene	gene with protein product		607715	transforming growth factor beta 1 induced transcript 4	TGFB1I4	NA	8651929, 9022669	Standard	NM_006022	NM_183422	NA	Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2789G>T	13.37:g.45147422C>A	ENSP00000397435:p.Gly930Val	NA	B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	37	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424623	0.43020	.	.	ENSG00000102804	ENST00000458659	T	0.31510	1.49	5.16	5.16	0.70880	.	0.099859	0.44285	D	0.000479	T	0.23054	0.0557	L	0.29908	0.895	0.80722	D	1	B	0.25105	0.118	B	0.25614	0.062	T	0.03717	-1.1010	10	0.28530	T	0.3	.	12.6907	0.56972	0.1642:0.8358:0.0:0.0	.	930	Q15714	T22D1_HUMAN	V	930	ENSP00000397435:G930V	ENSP00000397435:G930V	G	-	2	0	TSC22D1	44045422	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.385000	0.44371	2.679000	0.91253	0.561000	0.74099	GGT	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044743.2		-	ENST00000458659.2	Missense_Mutation	SNP	13 : 45147422 - 45147422 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	626	9
TSSK6	83983	broad.mit.edu	37	19	19625658	19625658	+	Silent	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:19625658G>A	ENST00000360913.3	-	1	1180	c.579C>T	c.(577-579)taC>taT	p.Y193Y	TSSK6_ENST00000585580.3_Silent_p.Y193Y			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	193	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						TCCACACATCGTACTTCTTGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	40	44			NA	NA	19		NA											NA				19625658		2203	4299	6502	SO:0001819	synonymous_variant			AK172841	CCDS12403.1	19p13.11	2009-03-12				ENSG00000178093	83983	83983			30410	protein-coding gene	gene with protein product	cancer/testis antigen 72	610712			NA	15044604	Standard	NM_032037	NM_032037	NA	Approved	SSTK, FLJ24002, CT72	uc002nmr.3	Q9BXA6		ENST00000360913.3:c.579C>T	19.37:g.19625658G>A		NA	B2R9F8|Q6ZMC4|Q96LJ4	37	CCDS12403.1																																																																																			TSSK6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459733.3		-	ENST00000360913.3	Silent	SNP	19 : 19625658 - 19625658 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	190	23
TSTA3	7264	broad.mit.edu	37	8	144698284	144698284	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr8:144698284C>T	ENST00000425753.2	-	3	356	c.253G>A	c.(253-255)Gac>Aac	p.D85N	TSTA3_ENST00000529064.1_Missense_Mutation_p.D85N	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	85					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	ACCCAGAAGTCCAAATTGTAT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	110	110			NA	NA	8		NA											NA				144698284		2203	4300	6503	SO:0001583	missense			U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	7264	7264	1.1.1.271	Short chain dehydrogenase/reductase superfamily / Extended SDR fold	12390	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 4E, member 1, GDP-L-fucose synthase	137020			NA	7803801, 1348494, 19027726	Standard	NM_003313	NM_003313	NA	Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.253G>A	8.37:g.144698284C>T	ENSP00000398803:p.Asp85Asn	NA	B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	37	CCDS6408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.477638|5.477638	0.96291|0.96291	.|.	.|.	ENSG00000104522|ENSG00000104522	ENST00000529064;ENST00000425753;ENST00000529048;ENST00000533817;ENST00000526290|ENST00000527006	D;D;D;D;D|.	0.94138|.	-3.36;-3.36;-3.36;-3.36;-3.36|.	4.75|4.75	4.75|4.75	0.60458|0.60458	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);|.	0.266244|.	0.39759|.	N|.	0.001266|.	D|.	0.85173|.	0.5636|.	M|M	0.93283|0.93283	3.4|3.4	0.80722|0.80722	D|D	1|1	D;D|.	0.56035|.	0.974;0.958|.	P;P|.	0.62382|.	0.901;0.77|.	D|.	0.89272|.	0.3605|.	10|.	0.87932|.	D|.	0|.	-33.5833|-33.5833	14.467|14.467	0.67490|0.67490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	85;85|.	B4DZW9;Q13630|.	.;FCL_HUMAN|.	N|X	85|117	ENSP00000435386:D85N;ENSP00000398803:D85N;ENSP00000431587:D85N;ENSP00000437012:D85N;ENSP00000433331:D85N|.	ENSP00000398803:D85N|.	D|W	-|-	1|3	0|0	TSTA3|TSTA3	144769427|144769427	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	5.485000|5.485000	0.66850|0.66850	2.158000|2.158000	0.67659|0.67659	0.655000|0.655000	0.94253|0.94253	GAC|TGG	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382263.1		-	ENST00000425753.2	Missense_Mutation	SNP	8 : 144698284 - 144698284 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	648	98
TTN	7273	broad.mit.edu	37	2	179464316	179464316	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:179464316C>A	ENST00000589042.1	-	289	56536	c.56312G>T	c.(56311-56313)gGa>gTa	p.G18771V	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16203V|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9706V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9831V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9898V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G17130V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17130	Fibronectin type-III 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATGCTGTTCCCAGATTATT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													260	256	257			NA	NA	2		NA											NA				179464316		1918	4130	6048	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.56312G>T	2.37:g.179464316C>A	ENSP00000467141:p.Gly18771Val	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657649	0.47467	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91219	0.7233	H	0.96175	3.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93592	0.6922	9	0.87932	D	0	.	19.5067	0.95121	0.0:1.0:0.0:0.0	.	9706;9831;9898;17130	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	16203;9706;9898;9831;9704	ENSP00000343764:G16203V;ENSP00000434586:G9706V;ENSP00000340554:G9898V;ENSP00000352154:G9831V	ENSP00000340554:G9898V	G	-	2	0	TTN	179172561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.760000	0.85248	2.609000	0.88269	0.650000	0.86243	GGA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179464316 - 179464316 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	1711	88
TTN	7273	broad.mit.edu	37	2	179641506	179641506	+	Silent	SNP	A	A	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:179641506A>G	ENST00000589042.1	-	28	5309	c.5085T>C	c.(5083-5085)taT>taC	p.Y1695Y	TTN_ENST00000342992.6_Silent_p.Y1695Y|TTN_ENST00000360870.5_Silent_p.Y1695Y|TTN_ENST00000460472.2_Silent_p.Y1649Y|TTN_ENST00000359218.5_Silent_p.Y1649Y|TTN_ENST00000342175.6_Silent_p.Y1649Y|TTN_ENST00000591111.1_Silent_p.Y1695Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1449							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTTTGTCATAGAGATCAC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	84	86			NA	NA	2		NA											NA				179641506		2203	4300	6503	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.5085T>C	2.37:g.179641506A>G		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179641506 - 179641506 G PAAD-TCGA-IB-7647-Tumor-SM-2NW82	432	58
TUBA1A	7846	broad.mit.edu	37	12	49580155	49580155	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:49580155G>A	ENST00000295766.5	-	3	792	c.313C>T	c.(313-315)Cga>Tga	p.R105*	TUBA1A_ENST00000550767.1_Nonsense_Mutation_p.R70*|TUBA1A_ENST00000301071.7_Nonsense_Mutation_p.R105*|TUBA1A_ENST00000546918.1_Silent_p.P155P	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	105					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						TAGTGCCCTCGGGCATAGTTA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)							NA				0													135	139	138			NA	NA	12		NA											NA				49580155		2203	4300	6503	SO:0001587	stop_gained			AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07					7846	7846		Tubulins	20766	protein-coding gene	gene with protein product	tubulin, alpha, brain-specific	602529			NA	11504633, 3839072	Standard	NM_006009	NM_006009	NA	Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.313C>T	12.37:g.49580155G>A	ENSP00000439020:p.Arg105*	NA	A8K0B8|P04687|P05209	37	CCDS58227.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716103	0.89205	.	.	ENSG00000167552	ENST00000301071;ENST00000295766;ENST00000550767;ENST00000547939;ENST00000552924	.	.	.	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5677	0.61828	0.0:0.0:0.8438:0.1562	.	.	.	.	X	105;105;70;70;70	.	ENSP00000439020:R105X	R	-	1	2	TUBA1A	47866422	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.541000	0.82084	2.605000	0.88082	0.561000	0.74099	CGA	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404547.2		-	ENST00000295766.5	Nonsense_Mutation	SNP	12 : 49580155 - 49580155 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	951	34
UQCRC2	7385	broad.mit.edu	37	16	21974207	21974207	+	Splice_Site	SNP	G	G	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:21974207G>T	ENST00000561553.1	+	6	567		c.e6+1		UQCRC2_ENST00000268379.4_Splice_Site			P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	NA					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CCGCAGACTCGTAAGTACATT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(123;450 1645 12841 25393 45623)							NA				0													60	55	57			NA	NA	16		NA											NA				21974207		2198	4300	6498	SO:0001630	splice_region_variant			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	7385	7385	1.10.2.2	Mitochondrial respiratory chain complex / Complex III	12586	protein-coding gene	gene with protein product		191329			NA	8288258, 2547763	Standard	NM_003366	NM_003366	NA	Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000561553.1:c.514+1G>T	16.37:g.21974207G>T		NA	B3KSN4|Q9BQ05	37		.	.	.	.	.	.	.	.	.	.	G	21.8	4.208992	0.79240	.	.	ENSG00000140740	ENST00000268379	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9872	0.86342	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UQCRC2	21881708	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.328000	0.96403	2.411000	0.81874	0.563000	0.77884	.	UQCRC2-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000430029.1	Intron	+	ENST00000561553.1	Splice_Site	SNP	16 : 21974207 - 21974207 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	357	35
ZNF671	79891	broad.mit.edu	37	19	58232832	58232832	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:58232832C>T	ENST00000317398.6	-	4	717	c.622G>A	c.(622-624)Gac>Aac	p.D208N	ZNF671_ENST00000335820.3_Missense_Mutation_p.D110N|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGGTGCTGGTCAAAGTCTGTA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	132	135			NA	NA	19		NA											NA				58232832		2203	4300	6503	SO:0001583	missense				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814	79891	79891		Zinc fingers, C2H2-type, -	26279	protein-coding gene	gene with protein product	hypothetical protein FLJ23506				NA	12477932	Standard	NM_024833	NM_024833	NA	Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.622G>A	19.37:g.58232832C>T	ENSP00000321848:p.Asp208Asn	NA	A6NF07|Q9H5E9	37	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.218275	0.39201	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.27402	1.67;1.67	2.45	-2.07	0.07276	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10895	0.0266	N	0.04297	-0.235	0.09310	N	1	B	0.17038	0.02	B	0.19391	0.025	T	0.37314	-0.9711	9	0.13108	T	0.6	.	4.9308	0.13916	0.0:0.5176:0.2982:0.1842	.	208	Q8TAW3	ZN671_HUMAN	N	208;110	ENSP00000321848:D208N;ENSP00000338670:D110N	ENSP00000321848:D208N	D	-	1	0	ZNF671	62924644	0.000000	0.05858	0.006000	0.13384	0.365000	0.29674	-2.416000	0.01035	-0.084000	0.12595	0.467000	0.42956	GAC	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466817.1		-	ENST00000317398.6	Missense_Mutation	SNP	19 : 58232832 - 58232832 T PAAD-TCGA-IB-7647-Tumor-SM-2NW82	642	36
ZNF777	27153	broad.mit.edu	37	7	149129516	149129516	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr7:149129516G>A	ENST00000247930.4	-	6	2170	c.1847C>T	c.(1846-1848)gCg>gTg	p.A616V		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGGCTTGAGCGCGTGCTTGGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	78	74			NA	NA	7		NA											NA				149129516		2161	4259	6420	SO:0001583	missense			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453	27153	27153		Zinc fingers, C2H2-type, -	22213	protein-coding gene	gene with protein product					NA		Standard	NM_015694	NM_015694	NA	Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1847C>T	7.37:g.149129516G>A	ENSP00000247930:p.Ala616Val	NA	Q8N2R2|Q8N659	37	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216935	0.39201	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.05319	3.46	5.02	5.02	0.67125	.	1.524830	0.03983	N	0.293589	T	0.07458	0.0188	N	0.25144	0.715	0.30708	N	0.749545	B	0.28971	0.229	B	0.24269	0.052	T	0.30621	-0.9972	10	0.24483	T	0.36	-3.7701	15.8456	0.78887	0.0:0.0:1.0:0.0	.	616	Q9ULD5-2	.	V	616;359	ENSP00000247930:A616V	ENSP00000247930:A616V	A	-	2	0	ZNF777	148760449	0.825000	0.29262	0.934000	0.37439	0.724000	0.41520	3.866000	0.56040	2.328000	0.79073	0.460000	0.39030	GCG	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352708.1		-	ENST00000247930.4	Missense_Mutation	SNP	7 : 149129516 - 149129516 A PAAD-TCGA-IB-7647-Tumor-SM-2NW82	737	98
