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
ACBD6	84320	broad.mit.edu	37	1	180461444	180461444	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:180461444A>G	ENST00000367595.3	-	3	1031	c.344T>C	c.(343-345)aTc>aCc	p.I115T		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	115	ACB.					cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						AACTACTGCGATATATTCCTG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	115	114			NA	NA	1		NA											NA				180461444		2203	4300	6503	SO:0001583	missense			BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847		84320	84320		Ankyrin repeat domain containing	23339	protein-coding gene	gene with protein product			acyl-Coenzyme A binding domain containing 6		NA	18268358	Standard	NM_032360	NM_032360	NA	Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.344T>C	1.37:g.180461444A>G	ENSP00000356567:p.Ile115Thr	NA		37	CCDS1339.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.645038	0.67358	.	.	ENSG00000135847	ENST00000367595	T	0.33654	1.4	5.05	5.05	0.67936	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4);	0.228453	0.45126	D	0.000387	T	0.54159	0.1841	M	0.78223	2.4	0.49915	D	0.999832	B	0.28026	0.198	P	0.45712	0.491	T	0.57533	-0.7795	10	0.51188	T	0.08	-8.125	13.7956	0.63168	1.0:0.0:0.0:0.0	.	115	Q9BR61	ACBD6_HUMAN	T	115	ENSP00000356567:I115T	ENSP00000356567:I115T	I	-	2	0	ACBD6	178728067	1.000000	0.71417	0.961000	0.40146	0.726000	0.41606	6.617000	0.74210	1.903000	0.55091	0.528000	0.53228	ATC	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084998.1		-	ENST00000367595.3	Missense_Mutation	SNP	1 : 180461444 - 180461444 G PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	482	10
AKAP3	10566	broad.mit.edu	37	12	4737445	4737445	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:4737445C>A	ENST00000545990.2	-	5	1147	c.623G>T	c.(622-624)aGt>aTt	p.S208I	AKAP3_ENST00000228850.1_Missense_Mutation_p.S208I|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	208					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						ATTTGGGGGACTTTGTGATGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	94	94			NA	NA	12		NA											NA				4737445		2203	4300	6503	SO:0001583	missense			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254	10566	10566		A-kinase anchor proteins	373	protein-coding gene	gene with protein product	Fibrous Sheath Protein of 95 kDa, cancer/testis antigen 82	604689			NA	10334916, 10319321	Standard	NM_006422	NM_001278309	NA	Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.623G>T	12.37:g.4737445C>A	ENSP00000440994:p.Ser208Ile	NA	O75945|Q86X01|Q9UM61	37	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	4.255	0.046299	0.08243	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.10668	2.85;2.85	4.61	-1.24	0.09435	A-kinase anchor 110kDa, C-terminal (1);	0.765712	0.12130	N	0.496807	T	0.09335	0.0230	L	0.57536	1.79	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.37663	-0.9696	10	0.87932	D	0	.	1.3901	0.02249	0.303:0.3889:0.1314:0.1767	.	208	O75969	AKAP3_HUMAN	I	208	ENSP00000228850:S208I;ENSP00000440994:S208I	ENSP00000228850:S208I	S	-	2	0	AKAP3	4607706	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.674000	0.05233	-0.341000	0.08376	-0.459000	0.05422	AGT	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398911.2		-	ENST00000545990.2	Missense_Mutation	SNP	12 : 4737445 - 4737445 A PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	607	9
ASPSCR1	79058	broad.mit.edu	37	17	79973120	79973120	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:79973120G>A	ENST00000306729.7	+	13	1620	c.1523G>A	c.(1522-1524)gGt>gAt	p.G508D	ASPSCR1_ENST00000580534.1_Intron|ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306739.4_Intron	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	505							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCAAGCACTGGTCAGCCTCCA	0.627		NA	T	TFE3	alveolar soft part sarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q25	79058	alveolar soft part sarcoma chromosome region, candidate 1		M	0													84	84	84			NA	NA	17		NA											NA				79973120		876	1991	2867	SO:0001583	missense			AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696	79058	79058		UBX domain containing	13825	protein-coding gene	gene with protein product	UBX domain protein 9	606236			NA	11244503, 10506710	Standard	NM_024083	NM_024083	NA	Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306729.7:c.1523G>A	17.37:g.79973120G>A	ENSP00000306625:p.Gly508Asp	NA	A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	37	CCDS58611.1	.	.	.	.	.	.	.	.	.	.	G	6.957	0.546457	0.13312	.	.	ENSG00000169696	ENST00000306729	T	0.28069	1.63	0.53	-1.06	0.10002	.	.	.	.	.	T	0.17746	0.0426	.	.	.	0.09310	N	0.999999	P	0.49185	0.92	B	0.39805	0.31	T	0.12372	-1.0550	6	.	.	.	.	.	.	.	.	508	Q9BZE9-2	.	D	508	ENSP00000306625:G508D	.	G	+	2	0	ASPSCR1	77566409	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-1.196000	0.03041	-0.573000	0.05998	0.205000	0.17691	GGT	ASPSCR1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441971.1		+	ENST00000306729.7	Missense_Mutation	SNP	17 : 79973120 - 79973120 A PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	513	19
C2orf71	388939	broad.mit.edu	37	2	29295748	29295748	+	Silent	SNP	C	C	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:29295748C>T	ENST00000331664.5	-	1	1379	c.1380G>A	c.(1378-1380)ggG>ggA	p.G460G		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	460					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGACCCCAATCCCAAAGGAAT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	87	85			NA	NA	2		NA											NA				29295748		1992	4172	6164	SO:0001819	synonymous_variant				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270	388939	388939			34383	protein-coding gene	gene with protein product		613425			NA	20398886	Standard	NM_001029883	NM_001029883	NA	Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1380G>A	2.37:g.29295748C>T		NA		37	CCDS42669.1																																																																																			C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324924.3		-	ENST00000331664.5	Silent	SNP	2 : 29295748 - 29295748 T PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	530	16
CCDC180	100499483	broad.mit.edu	37	9	100053719	100053719	+	Silent	SNP	C	C	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:100053719C>A	ENST00000357054.1	+	12	971	c.36C>A	c.(34-36)acC>acA	p.T12T	CCDC180_ENST00000375205.2_Silent_p.T12T|CCDC180_ENST00000411667.2_5'UTR|CCDC180_ENST00000375202.2_5'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Silent_p.T12T|RP11-23J9.5_ENST00000375204.2_RNA					coiled-coil domain containing 180	NA											NA						CTGGTGCTACCCATCGTCCAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													228	197	207			NA	NA	9		NA											NA				100053719		2203	4300	6503	SO:0001819	synonymous_variant			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816	100499483	100499483			29303	protein-coding gene	gene with protein product	Behcet's Disease Associated Gene 1		KIAA1529, chromosome 9 open reading frame 174	KIAA1529, C9orf174	NA	10819331	Standard	NM_020893	NM_020893	NA	Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.36C>A	9.37:g.100053719C>A		NA		37																																																																																				CCDC180-201	KNOWN	basic	protein_coding	NA	protein_coding			+	ENST00000357054.1	Silent	SNP	9 : 100053719 - 100053719 A PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	882	17
CHD4	1108	broad.mit.edu	37	12	6686950	6686950	+	Splice_Site	SNP	C	C	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:6686950C>T	ENST00000544484.1	-	36	5583		c.e36+1		CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000309577.6_Splice_Site|CHD4_ENST00000357008.2_Splice_Site			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	NA					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.?(3)		central_nervous_system(2)	2						CAACCGCTCACCTTAAACCTT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(32;586 792 4568 16848 45314)							NA				3	Unknown(3)	prostate(3)											103	102	102			NA	NA	12		NA											NA				6686950		2203	4300	6503	SO:0001630	splice_region_variant			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642	1108	1108		Zinc fingers, PHD-type	1919	protein-coding gene	gene with protein product		603277			NA	7575689, 8843877	Standard	NM_001273	XM_006718958	NA	Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000544484.1:c.5436+1G>A	12.37:g.6686950C>T		NA	Q8IXZ5	37		.	.	.	.	.	.	.	.	.	.	C	25.2	4.616076	0.87359	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7859	0.96437	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD4	6557211	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.464000	0.80887	2.746000	0.94184	0.655000	0.94253	.	CHD4-013	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000402631.1	Intron	-	ENST00000544484.1	Splice_Site	SNP	12 : 6686950 - 6686950 T PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	839	11
CLEC4A	50856	broad.mit.edu	37	12	8276535	8276535	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:8276535A>G	ENST00000229332.5	+	1	308	c.61A>G	c.(61-63)Atc>Gtc	p.I21V	CLEC4A_ENST00000360500.3_Missense_Mutation_p.I21V|CLEC4A_ENST00000352620.3_Missense_Mutation_p.I21V|CLEC4A_ENST00000345999.3_Missense_Mutation_p.I21V	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	21					cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		GTCCTCAGGCATCAACACAGC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	80	84			NA	NA	12		NA											NA				8276535		2203	4300	6503	SO:0001583	missense			AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729	50856	50856		C-type lectin domain containing	13257	protein-coding gene	gene with protein product		605306	C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6	CLECSF6	NA	10438934	Standard	NM_194450	NM_016184	NA	Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.61A>G	12.37:g.8276535A>G	ENSP00000229332:p.Ile21Val	NA	Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	37	CCDS8590.1	.	.	.	.	.	.	.	.	.	.	A	5.547	0.285885	0.10513	.	.	ENSG00000111729	ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500;ENST00000546339	T;T;T;T;T	0.44083	5.49;5.5;5.33;5.33;0.93	4.07	-0.299	0.12808	.	.	.	.	.	T	0.26882	0.0658	L	0.43152	1.355	0.09310	N	1	B;B;B;P	0.36990	0.32;0.048;0.32;0.577	B;B;B;B	0.31442	0.058;0.024;0.129;0.13	T	0.11842	-1.0571	9	0.27785	T	0.31	.	5.5206	0.16931	0.5456:0.3515:0.1029:0.0	.	21;21;21;21	Q9UMR7-3;Q9UMR7-4;Q9UMR7-2;Q9UMR7	.;.;.;CLC4A_HUMAN	V	21;21;21;21;10	ENSP00000229332:I21V;ENSP00000344646:I21V;ENSP00000247243:I21V;ENSP00000353690:I21V;ENSP00000443082:I10V	ENSP00000229332:I21V	I	+	1	0	CLEC4A	8167802	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.061000	0.11693	-0.051000	0.13334	0.528000	0.53228	ATC	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400257.1		+	ENST00000229332.5	Missense_Mutation	SNP	12 : 8276535 - 8276535 G PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	446	8
CYB5RL	606495	broad.mit.edu	37	1	54640404	54640404	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:54640404C>T	ENST00000534324.1	-	6	835	c.836G>A	c.(835-837)tGc>tAc	p.C279Y	RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000419823.2_Missense_Mutation_p.C279Y|CYB5RL_ENST00000542737.1_Missense_Mutation_p.C279Y|CYB5RL_ENST00000401046.3_Missense_Mutation_p.C131Y|CYB5RL_ENST00000287899.8_Missense_Mutation_p.C211Y|CYB5RL_ENST00000537208.1_Missense_Mutation_p.C211Y			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	279							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TCTCCGACAGCAGCTGACCAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	45	44			NA	NA	1		NA											NA				54640404		1937	4156	6093	SO:0001583	missense				CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883	606495	606495			32220	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001031672	NM_001031672	NA	Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.836G>A	1.37:g.54640404C>T	ENSP00000434343:p.Cys279Tyr	NA	B7ZBS4|Q8NF25	37	CCDS44151.1	.	.	.	.	.	.	.	.	.	.	C	7.486	0.649652	0.14516	.	.	ENSG00000215883	ENST00000419823;ENST00000401046;ENST00000534324;ENST00000287899;ENST00000542737;ENST00000537208	D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-1.9;-2.04;-1.9	5.14	3.21	0.36854	Oxidoreductase FAD/NAD(P)-binding (1);	0.413252	0.17337	U	0.177898	T	0.77356	0.4118	L	0.36672	1.1	0.24354	N	0.994901	B;B	0.22414	0.069;0.001	B;B	0.28553	0.091;0.001	T	0.64219	-0.6459	10	0.32370	T	0.25	-19.4038	7.8496	0.29446	0.0:0.2439:0.6084:0.1477	.	279;131	Q6IPT4;Q6IPT4-3	NB5R5_HUMAN;.	Y	279;131;279;211;279;211	ENSP00000409075:C279Y;ENSP00000383825:C131Y;ENSP00000434343:C279Y;ENSP00000287899:C211Y;ENSP00000438151:C279Y;ENSP00000443797:C211Y	ENSP00000287899:C211Y	C	-	2	0	CYB5RL	54412992	0.984000	0.35163	0.465000	0.27155	0.376000	0.30014	2.109000	0.41863	0.696000	0.31696	0.555000	0.69702	TGC	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388318.1		-	ENST00000534324.1	Missense_Mutation	SNP	1 : 54640404 - 54640404 T PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	227	7
DAAM2	23500	broad.mit.edu	37	6	39847105	39847105	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:39847105C>T	ENST00000398904.2	+	14	1879	c.1697C>T	c.(1696-1698)cCg>cTg	p.P566L	DAAM2_ENST00000274867.4_Missense_Mutation_p.P566L|DAAM2_ENST00000538976.1_Missense_Mutation_p.P566L			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	566	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGGGGACCCCCGACTCCCCCA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	23	23			NA	NA	6		NA											NA				39847105		1832	4069	5901	SO:0001583	missense			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122	23500	23500			18143	protein-coding gene	gene with protein product		606627			NA	11779461, 12632087	Standard		NM_015345	NA	Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1697C>T	6.37:g.39847105C>T	ENSP00000381876:p.Pro566Leu	NA	Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	37	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918426	0.33908	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.92446	-3.04;-3.04;-3.04	4.63	4.63	0.57726	Actin-binding FH2 (1);	0.000000	0.85682	D	0.000000	D	0.90143	0.6920	L	0.47716	1.5	0.80722	D	1	D;D	0.61080	0.989;0.982	P;P	0.51170	0.661;0.459	D	0.89794	0.3970	10	0.42905	T	0.14	.	17.2629	0.87075	0.0:1.0:0.0:0.0	.	566;566	G5EA45;Q86T65	.;DAAM2_HUMAN	L	566	ENSP00000274867:P566L;ENSP00000381876:P566L;ENSP00000437808:P566L	ENSP00000274867:P566L	P	+	2	0	DAAM2	39955083	0.999000	0.42202	0.978000	0.43139	0.008000	0.06430	4.374000	0.59543	2.383000	0.81215	0.650000	0.86243	CCG	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280648.1		+	ENST00000398904.2	Missense_Mutation	SNP	6 : 39847105 - 39847105 T PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	131	4
DYX1C1	161582	broad.mit.edu	37	15	55731755	55731755	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr15:55731755G>A	ENST00000321149.3	-	7	1175	c.808C>T	c.(808-810)Cga>Tga	p.R270*	DYX1C1_ENST00000448430.2_Nonsense_Mutation_p.R270*|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Nonsense_Mutation_p.R270*|DYX1C1_ENST00000457155.2_Nonsense_Mutation_p.R270*|DYX1C1_ENST00000380679.1_Nonsense_Mutation_p.R270*	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	270					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		ATTGCTCTTCGTGCCTCAGCT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	78	78			NA	NA	15		NA											NA				55731755		2193	4291	6484	SO:0001587	stop_gained				CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061	161582	161582		Tetratricopeptide (TTC) repeat domain containing	21493	protein-coding gene	gene with protein product		608706			NA	12954984	Standard	NM_130810	NM_130810	NA	Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.808C>T	15.37:g.55731755G>A	ENSP00000323275:p.Arg270*	NA	Q6P5Y9|Q8N1S6	37	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	G	39	7.385981	0.98252	.	.	ENSG00000256061	ENST00000420792;ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	.	.	.	5.09	1.99	0.26369	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1133	0.30928	0.0749:0.0:0.6445:0.2806	.	.	.	.	X	270	.	ENSP00000323275:R270X	R	-	1	2	DYX1C1	53519047	0.943000	0.32029	0.693000	0.30195	0.986000	0.74619	1.674000	0.37544	0.196000	0.20367	0.563000	0.77884	CGA	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254976.1		-	ENST00000321149.3	Nonsense_Mutation	SNP	15 : 55731755 - 55731755 A PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	340	6
FEM1A	55527	broad.mit.edu	37	19	4793864	4793864	+	Silent	SNP	C	C	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:4793864C>A	ENST00000269856.3	+	1	2137	c.1998C>A	c.(1996-1998)atC>atA	p.I666I	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	666					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGGCGTTCATCGAACTGCACT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	15	15			NA	NA	19		NA											NA				4793864		2202	4297	6499	SO:0001819	synonymous_variant			BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965	55527	55527		Ankyrin repeat domain containing	16934	protein-coding gene	gene with protein product		613538			NA	11441184	Standard		NM_018708	NA	Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1998C>A	19.37:g.4793864C>A		NA	B2RDI3|Q711P8|Q9NPN7|Q9NPW8	37	CCDS12135.1																																																																																			FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459000.1		+	ENST00000269856.3	Silent	SNP	19 : 4793864 - 4793864 A PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	91	3
FGB	2244	broad.mit.edu	37	4	155487741	155487741	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:155487741C>A	ENST00000509493.1	+	2	107				FGB_ENST00000302068.4_Missense_Mutation_p.A136D|FGB_ENST00000502545.1_3'UTR			P02675	FIBB_HUMAN	fibrinogen beta chain	NA					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AATGTGGAAGCTGTTTCCCAG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(106;1133 1613 21870 46110 52656)							NA				0													170	159	163			NA	NA	4		NA											NA				155487741		2203	4300	6503	SO:0001627	intron_variant				CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564	2244	2244		Fibrinogen C domain containing, Endogenous ligands	3662	protein-coding gene	gene with protein product		134830	fibrinogen, B beta polypeptide		NA		Standard	NM_005141	NM_005141	NA	Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000509493.1:c.-167-1004C>A	4.37:g.155487741C>A		NA	B2R7G3|Q3KPF2	37		.	.	.	.	.	.	.	.	.	.	C	0.023	-1.403604	0.01165	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	T	0.80738	-1.41	5.14	0.887	0.19200	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	1.797860	0.02358	N	0.076577	T	0.57799	0.2078	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.53739	-0.8396	10	0.07325	T	0.83	.	9.2198	0.37370	0.4197:0.5032:0.0:0.0771	.	119;136	B4E1D3;P02675	.;FIBB_HUMAN	D	136;119	ENSP00000306099:A136D	ENSP00000306099:A136D	A	+	2	0	FGB	155707191	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.058000	0.11750	-0.020000	0.14032	-1.151000	0.01829	GCT	FGB-010	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000365255.1		+	ENST00000509493.1	Intron	SNP	4 : 155487741 - 155487741 A PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	593	9
FOXP2	93986	broad.mit.edu	37	7	114298280	114298280	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr7:114298280C>T	ENST00000408937.3	+	12	1875	c.1501C>T	c.(1501-1503)Cga>Tga	p.R501*	FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393489.3_Nonsense_Mutation_p.R384*|FOXP2_ENST00000393494.2_Nonsense_Mutation_p.R476*|FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000403559.4_Nonsense_Mutation_p.R493*|FOXP2_ENST00000350908.4_Nonsense_Mutation_p.R476*|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.R455*	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	476					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GGGAGCCATACGAAGGCGACA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	99	105			NA	NA	7		NA											NA				114298280		2203	4300	6503	SO:0001587	stop_gained			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573	93986	93986		Forkhead boxes	13875	protein-coding gene	gene with protein product	trinucleotide repeat containing 10, forkhead/winged-helix transcription factor, speech and language disorder 1, CAG repeat protein 44	605317		TNRC10, SPCH1	NA	11586359, 9225980	Standard	NM_014491	NM_014491	NA	Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000408937.3:c.1501C>T	7.37:g.114298280C>T	ENSP00000386200:p.Arg501*	NA	A0AUV6|A4D0U8|A6NNW4|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	37	CCDS43635.1	.	.	.	.	.	.	.	.	.	.	C	39	7.583133	0.98371	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489	.	.	.	5.71	5.71	0.89125	.	0.113270	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2245	0.98337	0.0:1.0:0.0:0.0	.	.	.	.	X	476;501;493;476;453;384	.	ENSP00000265436:R476X	R	+	1	2	FOXP2	114085516	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.664000	0.54525	2.861000	0.98227	0.650000	0.86243	CGA	FOXP2-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000137483.3		+	ENST00000408937.3	Nonsense_Mutation	SNP	7 : 114298280 - 114298280 T PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	428	15
GALNT16	57452	broad.mit.edu	37	14	69805396	69805396	+	Silent	SNP	T	T	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr14:69805396T>C	ENST00000337827.4	+	10	1323	c.996T>C	c.(994-996)ggT>ggC	p.G332G	GALNT16_ENST00000448469.3_Silent_p.G332G|GALNT16_ENST00000553669.1_Silent_p.G332G	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			polypeptide N-acetylgalactosaminyltransferase 16	NA											NA						GGATGTGTGGTGGCAGTCTGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	123	132			NA	NA	14		NA											NA				69805396		2203	4300	6503	SO:0001819	synonymous_variant			AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	57452	57452	2.4.1.41	Glycosyltransferase family 2 domain containing	23233	protein-coding gene	gene with protein product	polypeptide GalNAc transferase 16	615132	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16	GALNTL1	NA	10574461, 22186971	Standard	NM_001168368	NM_020692	NA	Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.996T>C	14.37:g.69805396T>C		NA		37	CCDS32107.1																																																																																			GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412434.1		+	ENST00000337827.4	Silent	SNP	14 : 69805396 - 69805396 C PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	691	17
HLA-DMA	3108	broad.mit.edu	37	6	32917503	32917503	+	Silent	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:32917503G>A	ENST00000374843.4	-	3	622	c.537C>T	c.(535-537)gtC>gtT	p.V179V	HLA-DMA_ENST00000395305.3_Silent_p.V84V|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000464392.1_5'UTR|HLA-DMA_ENST00000395303.3_Silent_p.V145V	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	179						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						TGAGTCCATCGACAGCTGAGA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	68	71			NA	NA	6		NA											NA				32917503		1509	2709	4218	SO:0001819	synonymous_variant				CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257	3108	3108		Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing	4934	protein-coding gene	gene with protein product		142855			NA	1922385	Standard	NM_006120	NM_006120	NA	Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.537C>T	6.37:g.32917503G>A		NA	O02966|Q96FA1	37	CCDS4761.1																																																																																			HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076325.2		-	ENST00000374843.4	Silent	SNP	6 : 32917503 - 32917503 A PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	383	6
KLHDC4	54758	broad.mit.edu	37	16	87790046	87790046	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr16:87790046C>A	ENST00000270583.5	-	3	287	c.229G>T	c.(229-231)Gag>Tag	p.E77*	KLHDC4_ENST00000347925.5_Nonsense_Mutation_p.E77*|KLHDC4_ENST00000353170.5_Intron	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	77										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		AGGATTAACTCATCTTTCTCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	66	66			NA	NA	16		NA											NA				87790046		2198	4300	6498	SO:0001587	stop_gained			AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731	54758	54758			25272	protein-coding gene	gene with protein product					NA		Standard	NM_017566	NM_001184854	NA	Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.229G>T	16.37:g.87790046C>A	ENSP00000270583:p.Glu77*	NA	D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	37	CCDS10963.1	.	.	.	.	.	.	.	.	.	.	C	36	5.966446	0.97156	.	.	ENSG00000104731	ENST00000270583;ENST00000347925	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-15.5645	15.8539	0.78960	0.0:1.0:0.0:0.0	.	.	.	.	X	77	.	ENSP00000270583:E77X	E	-	1	0	KLHDC4	86347547	1.000000	0.71417	0.998000	0.56505	0.925000	0.55904	7.019000	0.76412	2.417000	0.82017	0.655000	0.94253	GAG	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269109.2		-	ENST00000270583.5	Nonsense_Mutation	SNP	16 : 87790046 - 87790046 A PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	314	7
KNTC1	9735	broad.mit.edu	37	12	123019271	123019271	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:123019271G>T	ENST00000450485.2	+	3	336	c.190G>T	c.(190-192)Gac>Tac	p.D64Y	KNTC1_ENST00000333479.7_Missense_Mutation_p.D64Y			P50748	KNTC1_HUMAN	kinetochore associated 1	64					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TATTGTAGCCGACCAATCAGT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	145	150			NA	NA	12		NA											NA				123019271		1876	4123	5999	SO:0001583	missense				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445	9735	9735			17255	protein-coding gene	gene with protein product	rough deal homolog (Drosophila)	607363			NA	11146660, 11590237	Standard		NM_014708	NA	Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000450485.2:c.190G>T	12.37:g.123019271G>T	ENSP00000397992:p.Asp64Tyr	NA	A7E2C4	37		.	.	.	.	.	.	.	.	.	.	G	18.11	3.551327	0.65311	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.30448	1.53;1.53	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.45862	-0.9232	10	0.87932	D	0	-20.8132	19.5419	0.95277	0.0:0.0:1.0:0.0	.	64;64	E7ES84;P50748	.;KNTC1_HUMAN	Y	64	ENSP00000397992:D64Y;ENSP00000328236:D64Y	ENSP00000328236:D64Y	D	+	1	0	KNTC1	121585224	1.000000	0.71417	0.861000	0.33841	0.985000	0.73830	6.059000	0.71133	2.714000	0.92807	0.650000	0.86243	GAC	KNTC1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000396109.2		+	ENST00000450485.2	Missense_Mutation	SNP	12 : 123019271 - 123019271 T PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	124	3
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	0	0
KRT26	353288	broad.mit.edu	37	17	38928255	38928255	+	Silent	SNP	C	C	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:38928255C>T	ENST00000335552.4	-	1	159	c.111G>A	c.(109-111)tcG>tcA	p.S37S		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	37	Gly-rich.|Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TTCTTGCTCCCGATCCAACAC	0.557		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	121	124	123		111	-11.3	0	17		123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT26	NM_181539.4		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		37/469	38928255	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393	353288	353288		-, Intermediate filaments type I, keratins (acidic)	30840	protein-coding gene	gene with protein product			keratin 25B	KRT25B	NA	16831889	Standard	NM_181539	NM_181539	NA	Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.111G>A	17.37:g.38928255C>T		NA	A2RUL2|B2RNH8	37	CCDS11374.1																																																																																			KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257215.1		-	ENST00000335552.4	Silent	SNP	17 : 38928255 - 38928255 T PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	1172	15
LRP1	4035	broad.mit.edu	37	12	57587450	57587450	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:57587450G>A	ENST00000243077.3	+	47	8252	c.7786G>A	c.(7786-7788)Gac>Aac	p.D2596N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2596	LDL-receptor class A 12.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGATGGCTCTGACGAGATCCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	84	87			NA	NA	12		NA											NA				57587450		2203	4300	6503	SO:0001583	missense			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384	4035	4035		CD molecules, Low density lipoprotein receptors	6692	protein-coding gene	gene with protein product		107770	alpha-2-macroglobulin receptor	APR, A2MR	NA	2548950	Standard	NM_002332	NM_002332	NA	Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7786G>A	12.37:g.57587450G>A	ENSP00000243077:p.Asp2596Asn	NA	Q2PP12|Q8IVG8	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529304	0.44969	.	.	ENSG00000123384	ENST00000243077	D	0.99214	-5.57	5.01	4.1	0.47936	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.99594	0.9853	H	0.97214	3.96	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.97659	1.0159	10	0.59425	D	0.04	.	12.9517	0.58405	0.0821:0.0:0.9179:0.0	.	2596	Q07954	LRP1_HUMAN	N	2596	ENSP00000243077:D2596N	ENSP00000243077:D2596N	D	+	1	0	LRP1	55873717	1.000000	0.71417	0.100000	0.21137	0.069000	0.16628	7.767000	0.85331	2.606000	0.88127	0.655000	0.94253	GAC	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412772.2		+	ENST00000243077.3	Missense_Mutation	SNP	12 : 57587450 - 57587450 A PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	418	12
LRP12	29967	broad.mit.edu	37	8	105502937	105502937	+	Silent	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:105502937G>A	ENST00000276654.5	-	7	2652	c.2544C>T	c.(2542-2544)aaC>aaT	p.N848N	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Silent_p.N829N	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	848					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CACTCGTTTCGTTTTTCAGTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	130	134			NA	NA	8		NA											NA				105502937		2203	4300	6503	SO:0001819	synonymous_variant			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650	29967	29967		Low density lipoprotein receptors	31708	protein-coding gene	gene with protein product					NA	12809483, 14676824	Standard	NM_013437	NM_013437	NA	Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2544C>T	8.37:g.105502937G>A		NA	A8K137|B4DRQ2	37	CCDS6303.1																																																																																			LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380821.1		-	ENST00000276654.5	Silent	SNP	8 : 105502937 - 105502937 A PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	618	13
LTBR	4055	broad.mit.edu	37	12	6494502	6494502	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:6494502G>T	ENST00000543190.1	+	4	535	c.108G>T	c.(106-108)gaG>gaT	p.E36D	LTBR_ENST00000539925.1_Missense_Mutation_p.E124D|LTBR_ENST00000541102.1_Missense_Mutation_p.E36D|LTBR_ENST00000228918.4_Missense_Mutation_p.E143D			P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	143					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CACACTGCGAGCTACTTTCTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	49	49			NA	NA	12		NA											NA				6494502		2203	4300	6503	SO:0001583	missense			L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321	4055	4055		Tumor necrosis factor receptor superfamily	6718	protein-coding gene	gene with protein product		600979		D12S370	NA	8171323, 8486360	Standard		NM_002342	NA	Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000543190.1:c.108G>T	12.37:g.6494502G>T	ENSP00000438955:p.Glu36Asp	NA	D3DUR2	37		.	.	.	.	.	.	.	.	.	.	G	13.66	2.303124	0.40795	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000540343;ENST00000536876;ENST00000543190;ENST00000541102	T;T;T;T;T	0.73047	0.12;0.12;0.12;-0.71;0.12	4.79	1.89	0.25635	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.432883	0.23340	N	0.049255	T	0.78227	0.4250	M	0.69358	2.11	0.09310	N	0.999996	D;D;D	0.76494	0.996;0.993;0.999	D;D;D	0.76071	0.986;0.967;0.987	T	0.66913	-0.5803	9	.	.	.	-1.2798	6.5625	0.22493	0.1755:0.0:0.6788:0.1457	.	124;124;143	F5GXE7;B7Z1D2;P36941	.;.;TNR3_HUMAN	D	124;143;36;138;36;36	ENSP00000440875:E124D;ENSP00000228918:E143D;ENSP00000437647:E138D;ENSP00000438955:E36D;ENSP00000438605:E36D	.	E	+	3	2	LTBR	6364763	0.749000	0.28305	0.076000	0.20297	0.307000	0.27823	0.698000	0.25571	-0.127000	0.11661	-1.134000	0.01955	GAG	LTBR-012	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399425.1		+	ENST00000543190.1	Missense_Mutation	SNP	12 : 6494502 - 6494502 T PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	361	7
MAGEA3	4102	broad.mit.edu	37	X	151935609	151935609	+	Silent	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:151935609G>A	ENST00000393902.3	-	3	1125	c.558C>T	c.(556-558)taC>taT	p.Y186Y	MAGEA3_ENST00000370278.3_Silent_p.Y186Y			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	186	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGCCATCGTAGGAGAGGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	102	102			NA	NA	X		NA											NA				151935609		2202	4294	6496	SO:0001819	synonymous_variant				CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867	4102	4102			6801	protein-coding gene	gene with protein product	melanoma-associated antigen 3, antigen MZ2-D, MAGE-3 antigen, cancer/testis antigen family 1, member 3	300174		MAGE3	NA	1840703, 8575766	Standard	NM_005362	NM_005362	NA	Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.558C>T	X.37:g.151935609G>A		NA	Q6FHI6	37	CCDS14715.1																																																																																			MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058744.1		-	ENST00000393902.3	Silent	SNP	X : 151935609 - 151935609 A PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	1145	27
NALCN	259232	broad.mit.edu	37	13	101755619	101755619	+	Silent	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr13:101755619G>A	ENST00000251127.6	-	26	3042	c.2961C>T	c.(2959-2961)gtC>gtT	p.V987V		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	987						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCACCGAAGGACCATTAGAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	89	90			NA	NA	13		NA											NA				101755619		2203	4300	6503	SO:0001819	synonymous_variant			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452	259232	259232		Ion channels / Sodium leak channels, non-selective	19082	protein-coding gene	gene with protein product		611549	voltage gated channel like 1	VGCNL1	NA	17448995	Standard	NM_052867	XM_006719943	NA	Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2961C>T	13.37:g.101755619G>A		NA	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	37	CCDS9498.1																																																																																			NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045663.2		-	ENST00000251127.6	Silent	SNP	13 : 101755619 - 101755619 A PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	610	14
NIPBL	25836	broad.mit.edu	37	5	37044451	37044451	+	Silent	SNP	G	G	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr5:37044451G>T	ENST00000282516.8	+	35	6610	c.6111G>T	c.(6109-6111)acG>acT	p.T2037T	NIPBL_ENST00000448238.2_Silent_p.T2037T	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2037					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCTTATAGACGCAAAATGATT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	49	49			NA	NA	5		NA											NA				37044451		2203	4299	6502	SO:0001819	synonymous_variant			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190	25836	25836			28862	protein-coding gene	gene with protein product	sister chromatid cohesion 2 homolog (yeast)	608667			NA	15146186, 15146185	Standard	NM_015384	NM_133433	NA	Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6111G>T	5.37:g.37044451G>T		NA	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	37	CCDS3920.1																																																																																			NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207582.1		+	ENST00000282516.8	Silent	SNP	5 : 37044451 - 37044451 T PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	174	4
NRAP	4892	broad.mit.edu	37	10	115374049	115374049	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:115374049A>G	ENST00000359988.3	-	29	3437	c.3193T>C	c.(3193-3195)Tac>Cac	p.Y1065H	NRAP_ENST00000360478.3_Missense_Mutation_p.Y1030H|NRAP_ENST00000369358.4_Missense_Mutation_p.Y1073H|NRAP_ENST00000369360.3_Missense_Mutation_p.Y1038H	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1065						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCCTCTTTGTATTTGTACTAA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	134	140			NA	NA	10		NA											NA				115374049		2203	4300	6503	SO:0001583	missense				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893	4892	4892			7988	protein-coding gene	gene with protein product		602873			NA	12789664, 10320340	Standard	NM_006175	NM_006175	NA	Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3193T>C	10.37:g.115374049A>G	ENSP00000353078:p.Tyr1065His	NA	O15500|Q5VWI3|Q5VWI4|Q6MZK3|Q6N026|Q6N059|Q6NSH8|Q6PDB0|Q719H6|Q86TC5|Q86TD6|Q86TE6|Q86VF6|Q8N3R6|Q8N8F9|Q8TCH0|Q96MG4	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.298801	0.81025	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	D;D;D;D	0.99958	-9.03;-9.03;-9.03;-9.03	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.99955	0.9981	M	0.89601	3.045	0.48571	D	0.999672	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.95382	0.8474	10	0.87932	D	0	.	15.8761	0.79162	1.0:0.0:0.0:0.0	.	1065;1030;1065	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	H	1073;1038;1065;1030	ENSP00000358365:Y1073H;ENSP00000358367:Y1038H;ENSP00000353078:Y1065H;ENSP00000353666:Y1030H	ENSP00000353078:Y1065H	Y	-	1	0	NRAP	115364039	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.290000	0.89925	2.153000	0.67306	0.528000	0.53228	TAC	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050425.2		-	ENST00000359988.3	Missense_Mutation	SNP	10 : 115374049 - 115374049 G PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	748	12
PHACTR4	65979	broad.mit.edu	37	1	28807088	28807088	+	Silent	SNP	C	C	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:28807088C>A	ENST00000373839.3	+	9	1993	c.1732C>A	c.(1732-1734)Cgg>Agg	p.R578R	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Silent_p.R588R	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	578							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GAATGAAATACGGCACCAGAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													225	207	213			NA	NA	1		NA											NA				28807088		2001	4171	6172	SO:0001819	synonymous_variant			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138	65979	65979		Phosphatase and actin regulators	25793	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 124	608726			NA	11483580, 15107502	Standard	NM_023923	NM_023923	NA	Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1732C>A	1.37:g.28807088C>A		NA	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	37	CCDS41293.1																																																																																			PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009868.4		+	ENST00000373839.3	Silent	SNP	1 : 28807088 - 28807088 A PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	1316	27
PINK1	65018	broad.mit.edu	37	1	20975596	20975596	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:20975596T>G	ENST00000321556.4	+	7	1454	c.1360T>G	c.(1360-1362)Tac>Gac	p.Y454D	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	454	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAATCCCTTCTACGGCCAGGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(145;853 1803 8146 34412 35011)							NA				0													69	61	64			NA	NA	1		NA											NA				20975596		2203	4300	6503	SO:0001583	missense			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828	65018	65018		Parkinson disease	14581	protein-coding gene	gene with protein product		608309	Parkinson disease (autosomal recessive) 6	PARK6	NA	11494141, 15349860	Standard	NM_032409	NM_032409	NA	Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1360T>G	1.37:g.20975596T>G	ENSP00000364204:p.Tyr454Asp	NA	Q8N6T9|Q8NBU3|Q96DE4	37	CCDS211.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.986271	0.74589	.	.	ENSG00000158828	ENST00000321556	T	0.64260	-0.09	6.05	6.05	0.98169	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057544	0.64402	D	0.000001	T	0.72922	0.3521	L	0.45470	1.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.74225	-0.3734	10	0.56958	D	0.05	-10.0039	12.9918	0.58622	0.0:0.0:0.0:1.0	.	147;454	Q9BXM7-2;Q9BXM7	.;PINK1_HUMAN	D	454	ENSP00000364204:Y454D	ENSP00000364204:Y454D	Y	+	1	0	PINK1	20848183	1.000000	0.71417	0.970000	0.41538	0.633000	0.38033	7.179000	0.77665	2.323000	0.78572	0.533000	0.62120	TAC	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007954.1		+	ENST00000321556.4	Missense_Mutation	SNP	1 : 20975596 - 20975596 G PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	241	5
PLEC	5339	broad.mit.edu	37	8	145006714	145006714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:145006714G>A	ENST00000322810.4	-	16	2411	c.2242C>T	c.(2242-2244)Cgc>Tgc	p.R748C	PLEC_ENST00000354958.2_Missense_Mutation_p.R589C|PLEC_ENST00000398774.2_Missense_Mutation_p.R579C|PLEC_ENST00000436759.2_Missense_Mutation_p.R638C|PLEC_ENST00000356346.3_Missense_Mutation_p.R597C|PLEC_ENST00000527096.1_Missense_Mutation_p.R634C|PLEC_ENST00000345136.3_Missense_Mutation_p.R611C|PLEC_ENST00000354589.3_Missense_Mutation_p.R611C|PLEC_ENST00000357649.2_Missense_Mutation_p.R615C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	748	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.R611C(1)|p.R748C(1)|p.R638C(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GACCTGAGGCGGGCCTTGGAG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	lung(3)											45	52	50			NA	NA	8		NA											NA				145006714		1981	4143	6124	SO:0001583	missense			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2242C>T	8.37:g.145006714G>A	ENSP00000323856:p.Arg748Cys	NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930956	0.34096	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	T;T;T;T;T;T;T;T;T;D	0.96334	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-3.98	4.6	3.71	0.42584	.	0.000000	0.64402	U	0.000005	D	0.97838	0.9290	M	0.84773	2.715	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.85130	0.997;0.997;0.997;0.994;0.997;0.997;0.997;0.997	D	0.97902	1.0303	10	0.87932	D	0	.	11.3503	0.49583	0.0925:0.0:0.9075:0.0	.	638;597;589;748;579;611;615;611	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	611;615;611;579;748;589;597;638;634;655	ENSP00000344848:R611C;ENSP00000350277:R615C;ENSP00000346602:R611C;ENSP00000381756:R579C;ENSP00000323856:R748C;ENSP00000347044:R589C;ENSP00000348702:R597C;ENSP00000388180:R638C;ENSP00000434583:R634C;ENSP00000437303:R655C	ENSP00000323856:R748C	R	-	1	0	PLEC	145078702	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	6.203000	0.72137	2.271000	0.75665	0.453000	0.30009	CGC	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Missense_Mutation	SNP	8 : 145006714 - 145006714 A PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	624	11
PTGS1	5742	broad.mit.edu	37	9	125148756	125148756	+	Silent	SNP	C	C	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:125148756C>T	ENST00000362012.2	+	9	1046	c.1041C>T	c.(1039-1041)taC>taT	p.Y347Y	AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000223423.4_Silent_p.Y347Y|PTGS1_ENST00000540753.1_Silent_p.Y322Y|PTGS1_ENST00000373698.5_Silent_p.Y238Y	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	347					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TCGAGGAGTACGTGCAGCAGC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	149	148			NA	NA	9		NA											NA				125148756		2203	4300	6503	SO:0001819	synonymous_variant			M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	5742	5742	1.14.99.1		9604	protein-coding gene	gene with protein product		176805			NA	2512924, 1907252	Standard		NM_000962	NA	Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1041C>T	9.37:g.125148756C>T		NA	A8K1V7|Q15122|Q5T7T6|Q5T7T7|Q5T7T8	37	CCDS6842.1																																																																																			PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053933.1		+	ENST00000362012.2	Silent	SNP	9 : 125148756 - 125148756 T PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	1042	22
PUSL1	126789	broad.mit.edu	37	1	1244619	1244619	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:1244619G>A	ENST00000379031.5	+	3	366	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	PUSL1_ENST00000470520.1_3'UTR	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	97					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			lung(3)|skin(1)|urinary_tract(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTGGCCGAGGCCCTCAACAC	0.746		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	6	6			NA	NA	1		NA											NA				1244619		2017	4041	6058	SO:0001583	missense			AK027721	CCDS20.1	1p36.33	2008-02-05			ENSG00000169972	ENSG00000169972	126789	126789			26914	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_153339	NM_153339	NA	Approved	FLJ90811	uc001aed.3	Q8N0Z8	OTTHUMG00000003361	ENST00000379031.5:c.289G>A	1.37:g.1244619G>A	ENSP00000368318:p.Ala97Thr	NA	B4DP76|Q5TA41	37	CCDS20.1	.	.	.	.	.	.	.	.	.	.	g	16.09	3.025366	0.54683	.	.	ENSG00000169972	ENST00000379031	T	0.56275	0.47	4.63	2.5	0.30297	Pseudouridine synthase I, TruA, N-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.420768	0.18516	N	0.138901	T	0.73032	0.3535	M	0.90922	3.16	0.32924	D	0.516194	D	0.63880	0.993	P	0.61070	0.883	T	0.82554	-0.0399	10	0.87932	D	0	-24.0168	12.1582	0.54089	0.0:0.2825:0.7175:0.0	.	97	Q8N0Z8	PUSL1_HUMAN	T	97	ENSP00000368318:A97T	ENSP00000368318:A97T	A	+	1	0	PUSL1	1234482	0.975000	0.34042	0.971000	0.41717	0.211000	0.24417	2.775000	0.47702	2.141000	0.66446	0.450000	0.29827	GCC	PUSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009438.1		+	ENST00000379031.5	Missense_Mutation	SNP	1 : 1244619 - 1244619 A PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	40	3
ROR2	4920	broad.mit.edu	37	9	94486741	94486741	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:94486741C>T	ENST00000375708.3	-	9	2233	c.2035G>A	c.(2035-2037)Ggt>Agt	p.G679S	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.G539S	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	679	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGACCACACCGTAGGACCAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	61	65			NA	NA	9		NA											NA				94486741		2203	4300	6503	SO:0001583	missense			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071	4920	4920		Immunoglobulin superfamily / I-set domain containing	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1	NA	1334494, 10700182	Standard		NM_004560	NA	Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2035G>A	9.37:g.94486741C>T	ENSP00000364860:p.Gly679Ser	NA	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	37	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427881	0.62733	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.99150	-5.49;-5.49	4.86	4.86	0.63082	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42420	D	0.000712	D	0.99471	0.9812	M	0.93638	3.44	0.80722	D	1	D;D	0.76494	0.995;0.999	P;D	0.75020	0.797;0.985	D	0.98372	1.0554	10	0.87932	D	0	.	18.2087	0.89863	0.0:1.0:0.0:0.0	.	679;539	Q01974;B1APY4	ROR2_HUMAN;.	S	539;679	ENSP00000364867:G539S;ENSP00000364860:G679S	ENSP00000364860:G679S	G	-	1	0	ROR2	93526562	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	5.842000	0.69417	2.526000	0.85167	0.561000	0.74099	GGT	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053040.1		-	ENST00000375708.3	Missense_Mutation	SNP	9 : 94486741 - 94486741 T PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	239	5
RPAP1	26015	broad.mit.edu	37	15	41815528	41815528	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr15:41815528G>T	ENST00000561603.1	-	18	2575	c.2461C>A	c.(2461-2463)Ctc>Atc	p.L821I	RPAP1_ENST00000304330.4_Missense_Mutation_p.L821I			Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	821						nucleus	DNA binding|DNA-directed RNA polymerase activity	p.L821I(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ATGTCCTGGAGCCAATCCTCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	kidney(1)											37	39	38			NA	NA	15		NA											NA				41815528		2203	4300	6503	SO:0001583	missense			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932	26015	26015			24567	protein-coding gene	gene with protein product		611475			NA	10718198	Standard	NM_015540	XM_005254297	NA	Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000561603.1:c.2461C>A	15.37:g.41815528G>T	ENSP00000456207:p.Leu821Ile	NA	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	37		.	.	.	.	.	.	.	.	.	.	G	18.00	3.525485	0.64860	.	.	ENSG00000103932	ENST00000304330	T	0.67345	-0.26	5.7	5.7	0.88788	.	0.218096	0.37577	N	0.002036	T	0.77805	0.4185	M	0.66939	2.045	0.36757	D	0.88309	D	0.89917	1.0	D	0.71184	0.972	T	0.82629	-0.0363	10	0.87932	D	0	-13.6196	10.1363	0.42708	0.0942:0.0:0.9058:0.0	.	821	Q9BWH6	RPAP1_HUMAN	I	821	ENSP00000306123:L821I	ENSP00000306123:L821I	L	-	1	0	RPAP1	39602820	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	4.664000	0.61540	2.679000	0.91253	0.655000	0.94253	CTC	RPAP1-004	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420208.1		-	ENST00000561603.1	Missense_Mutation	SNP	15 : 41815528 - 41815528 T PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	271	15
RPTOR	57521	broad.mit.edu	37	17	78914377	78914377	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:78914377C>A	ENST00000306801.3	+	25	3363	c.3001C>A	c.(3001-3003)Cag>Aag	p.Q1001K	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.Q843K|CTD-2561B21.4_ENST00000576032.1_RNA	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1001					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TGTCAGGAGGCAGGCCCAGCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	39	41			NA	NA	17		NA											NA				78914377		2200	4299	6499	SO:0001583	missense				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564	57521	57521		WD repeat domain containing	30287	protein-coding gene	gene with protein product	regulatory associated protein of mTOR	607130			NA	10718198, 12150926	Standard	NM_020761	NM_001163034	NA	Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.3001C>A	17.37:g.78914377C>A	ENSP00000307272:p.Gln1001Lys	NA	B2RN36|Q8N4V9|Q8TB32|Q9P2P3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165535	0.78339	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.41758	1.01;0.99	4.8	4.8	0.61643	.	0.070570	0.64402	D	0.000019	T	0.56804	0.2010	L	0.50333	1.59	0.80722	D	1	P;B	0.43578	0.811;0.111	P;B	0.57846	0.828;0.026	T	0.55173	-0.8182	10	0.42905	T	0.14	.	17.8504	0.88746	0.0:1.0:0.0:0.0	.	843;1001	F5H7J5;Q8N122	.;RPTOR_HUMAN	K	1001;843	ENSP00000307272:Q1001K;ENSP00000442479:Q843K	ENSP00000307272:Q1001K	Q	+	1	0	RPTOR	76528972	1.000000	0.71417	0.962000	0.40283	0.334000	0.28698	6.977000	0.76141	2.209000	0.71365	0.561000	0.74099	CAG	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438125.1		+	ENST00000306801.3	Missense_Mutation	SNP	17 : 78914377 - 78914377 A PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	124	4
SLC16A9	220963	broad.mit.edu	37	10	61424005	61424005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:61424005G>A	ENST00000395348.3	-	4	1052	c.416C>T	c.(415-417)gCg>gTg	p.A139V	SLC16A9_ENST00000395347.1_Missense_Mutation_p.A139V	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	139					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CAGGCCAAGCGCTAGGCCTCG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	112	114			NA	NA	10		NA											NA				61424005		2203	4300	6503	SO:0001583	missense			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449	220963	220963		Solute carriers	23520	protein-coding gene	gene with protein product	monocarboxylic acid transporter 9	614242	chromosome 10 open reading frame 36, solute carrier family 16 (monocarboxylic acid transporters), member 9, solute carrier family 16, member 9 (monocarboxylic acid transporter 9)	C10orf36	NA		Standard	NM_194298	NM_194298	NA	Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.416C>T	10.37:g.61424005G>A	ENSP00000378757:p.Ala139Val	NA	Q6ZMI2|Q9UFH8	37	CCDS7256.1	.	.	.	.	.	.	.	.	.	.	G	35	5.415996	0.96092	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	T;T	0.50813	0.73;0.73	5.34	5.34	0.76211	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.050554	0.85682	D	0.000000	T	0.65291	0.2677	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.64824	-0.6316	10	0.49607	T	0.09	.	19.0182	0.92902	0.0:0.0:1.0:0.0	.	139	Q7RTY1	MOT9_HUMAN	V	139	ENSP00000378757:A139V;ENSP00000378756:A139V	ENSP00000378756:A139V	A	-	2	0	SLC16A9	61094011	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	9.428000	0.97476	2.487000	0.83934	0.655000	0.94253	GCG	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048174.2		-	ENST00000395348.3	Missense_Mutation	SNP	10 : 61424005 - 61424005 A PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	416	8
SLC35F3	148641	broad.mit.edu	37	1	234454518	234454518	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:234454518G>A	ENST00000366618.3	+	6	1121	c.976G>A	c.(976-978)Ggc>Agc	p.G326S	SLC35F3_ENST00000366617.3_Missense_Mutation_p.G257S	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	257					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GCTCCTCCTGGGCAGTGCTAA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	168	170			NA	NA	1		NA											NA				234454518		2203	4300	6503	SO:0001583	missense				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780	148641	148641		Solute carriers	23616	protein-coding gene	gene with protein product					NA		Standard	NM_173508	XM_005273070	NA	Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366618.3:c.976G>A	1.37:g.234454518G>A	ENSP00000355577:p.Gly326Ser	NA	Q5TDD6|Q8N9C9	37	CCDS1600.1	.	.	.	.	.	.	.	.	.	.	G	36	5.759291	0.96898	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.73469	-0.75;-0.75	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.87736	0.6252	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.86546	0.1831	10	0.40728	T	0.16	-24.7144	19.8559	0.96758	0.0:0.0:1.0:0.0	.	257;326	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	S	326;257	ENSP00000355577:G326S;ENSP00000355576:G257S	ENSP00000355576:G257S	G	+	1	0	SLC35F3	232521141	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.693000	0.91896	0.655000	0.94253	GGC	SLC35F3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092579.2		+	ENST00000366618.3	Missense_Mutation	SNP	1 : 234454518 - 234454518 A PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	1011	15
TMPRSS3	64699	broad.mit.edu	37	21	43796648	43796648	+	Splice_Site	SNP	A	A	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr21:43796648A>T	ENST00000291532.3	-	11	2150		c.e11+1		TMPRSS3_ENST00000380399.1_Splice_Site|TMPRSS3_ENST00000433957.2_Splice_Site|TMPRSS3_ENST00000474596.1_Splice_Site|TMPRSS3_ENST00000398405.1_Splice_Site	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	NA					cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GCGGCCCCGTACCTGGCAGCT	0.622		NA									OREG0031642	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	59	62			NA	NA	21		NA											NA				43796648		2203	4300	6503	SO:0001630	splice_region_variant			AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183	64699	64699		Serine peptidases / Transmembrane	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8	NA	11462234, 11907649	Standard		NM_032405	NA	Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.1194+1T>A	21.37:g.43796648A>T		919	D3DSJ6|Q6ZMC3	37	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.329752	0.81690	.	.	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5997	0.68432	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMPRSS3	42669717	1.000000	0.71417	0.945000	0.38365	0.866000	0.49608	8.554000	0.90689	1.840000	0.53500	0.482000	0.46254	.	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195347.1	Intron	-	ENST00000291532.3	Splice_Site	SNP	21 : 43796648 - 43796648 T PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	440	9
TUB	7275	broad.mit.edu	37	11	8123100	8123100	+	Silent	SNP	G	G	A	rs147880022	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr11:8123100G>A	ENST00000305253.4	+	13	1861	c.1620G>A	c.(1618-1620)ccG>ccA	p.P540P	TUB_ENST00000534099.1_Silent_p.P491P|TUB_ENST00000299506.2_Silent_p.P485P	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	485					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		ACAACTACCCGCTGTGTGCAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	4,4398	8.1+/-20.4	0,4,2197	170	125	141		1620,1455	-3.8	1	11	dbSNP_134	141	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous,coding-synonymous	TUB	NM_003320.4,NM_177972.2	,	0,6,6491	AA,AG,GG	NA	0.0233,0.0909,0.0462	,	540/562,485/507	8123100	6,12988	2201	4296	6497	SO:0001819	synonymous_variant			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402	7275	7275			12406	protein-coding gene	gene with protein product		601197	tubby (mouse) homolog, tubby homolog (mouse)		NA	8612280	Standard	NM_003320	NM_003320	NA	Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000305253.4:c.1620G>A	11.37:g.8123100G>A		NA	D3DQU4|O00293|Q6B007	37	CCDS7786.1																																																																																			TUB-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385822.1		+	ENST00000305253.4	Silent	SNP	11 : 8123100 - 8123100 A PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	720	21
VARS2	57176	broad.mit.edu	37	6	30892256	30892256	+	Silent	SNP	C	C	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:30892256C>G	ENST00000321897.5	+	25	3224	c.2592C>G	c.(2590-2592)ctC>ctG	p.L864L	VARS2_ENST00000541562.1_Silent_p.L894L|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Silent_p.L724L|VARS2_ENST00000416670.2_Silent_p.L864L			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	864					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CTGAAGAGCTCTGGCAGAGGC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	30	28			NA	NA	6		NA											NA				30892256		1508	2708	4216	SO:0001819	synonymous_variant			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	57176	57176	6.1.1.9	Aminoacyl tRNA synthetases / Class I	21642	protein-coding gene	gene with protein product	valine tRNA ligase 2, mitochondrial	612802	valyl-tRNA synthetase 2-like, valyl-tRNA synthetase like, valyl-tRNA synthetase 2, mitochondrial (putative)	VARS2L, VARSL	NA	1898367, 11572484, 18400783	Standard	NM_020442	NM_001167734	NA	Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2592C>G	6.37:g.30892256C>G		NA	A2ABL7|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	37	CCDS34387.1																																																																																			VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076566.2		+	ENST00000321897.5	Silent	SNP	6 : 30892256 - 30892256 G PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	320	7
VEZF1	7716	broad.mit.edu	37	17	56060697	56060697	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:56060697G>T	ENST00000584396.1	-	2	152	c.64C>A	c.(64-66)Ctg>Atg	p.L22M	VEZF1_ENST00000581208.1_Missense_Mutation_p.L31M			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	31					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCAGAGCTCAGGAGGGGCAGC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	92	90			NA	NA	17		NA											NA				56060697		2203	4299	6502	SO:0001583	missense			D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451	7716	7716		Zinc fingers, C2H2-type	12949	protein-coding gene	gene with protein product		606747	zinc finger protein 161	ZNF161	NA	8035792	Standard		XM_005257643	NA	Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000584396.1:c.64C>A	17.37:g.56060697G>T	ENSP00000464687:p.Leu22Met	NA		37		.	.	.	.	.	.	.	.	.	.	G	15.13	2.741196	0.49151	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	L	0.27053	0.805	0.80722	D	1	D	0.65815	0.995	P	0.61874	0.895	T	0.63102	-0.6712	9	0.59425	D	0.04	-1.2014	13.5589	0.61777	0.0706:0.0:0.9294:0.0	.	31	Q14119	VEZF1_HUMAN	M	31	.	ENSP00000258963:L31M	L	-	1	2	VEZF1	53415696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.455000	0.66658	2.823000	0.97156	0.643000	0.83706	CTG	VEZF1-002	PUTATIVE	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000443320.2		-	ENST00000584396.1	Missense_Mutation	SNP	17 : 56060697 - 56060697 T PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	932	14
ZNF749	388567	broad.mit.edu	37	19	57955950	57955950	+	Silent	SNP	T	T	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:57955950T>C	ENST00000334181.4	+	3	1684	c.1434T>C	c.(1432-1434)atT>atC	p.I478I	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GGATTGACATTAGGCCAAGGC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	78	80			NA	NA	19		NA											NA				57955950		2203	4300	6503	SO:0001819	synonymous_variant			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230	388567	388567		Zinc fingers, C2H2-type, -	32783	protein-coding gene	gene with protein product					NA		Standard	NM_001023561	NM_001023561	NA	Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1434T>C	19.37:g.57955950T>C		NA		37	CCDS33132.2																																																																																			ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317879.1		+	ENST00000334181.4	Silent	SNP	19 : 57955950 - 57955950 C PAAD-TCGA-IB-7897-Tumor-SM-2RBJZ	369	5
