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
ACP6	51205	broad.mit.edu	37	1	147131792	147131792	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:147131792G>A	ENST00000369238.6	-	2	765	c.318C>T	c.(316-318)taC>taT	p.Y106Y	ACP6_ENST00000392988.2_Silent_p.Y106Y	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	NA					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					ATTGAGAGTCGTAAGGAGAAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	102	103			NA	NA	1		NA											NA				147131792		2203	4300	6503	SO:0001819	synonymous_variant			BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836	51205	51205			29609	protein-coding gene	gene with protein product		611471			NA	12010880, 10506173	Standard	NM_016361	NM_016361	NA	Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.318C>T	1.37:g.147131792G>A		NA	Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	37	CCDS928.1																																																																																			ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039420.2		-	ENST00000369238.6	Silent	SNP	1 : 147131792 - 147131792 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	432	108
ANTXR1	84168	broad.mit.edu	37	2	69409641	69409641	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:69409641A>G	ENST00000303714.4	+	16	1524	c.1202A>G	c.(1201-1203)aAg>aGg	p.K401R		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	401					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TGGGGAGAAAAGGGCTCCACA	0.418		NA							Familial Infantile Hemangioma					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	90	91			NA	NA	2		NA											NA				69409641		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604	84168	84168			21014	protein-coding gene	gene with protein product	anthrax toxin receptor, tumor endothelial marker 8 precursor	606410			NA	10947988, 11559528	Standard	NM_032208	NM_032208	NA	Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1202A>G	2.37:g.69409641A>G	ENSP00000301945:p.Lys401Arg	NA	A8K7U8|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	37	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276887	0.40294	.	.	ENSG00000169604	ENST00000303714	D	0.82803	-1.65	5.32	5.32	0.75619	Anthrax toxin receptor, C-terminal (2);	0.089199	0.85682	D	0.000000	T	0.73575	0.3604	L	0.28400	0.85	0.80722	D	1	B	0.25105	0.118	B	0.27796	0.083	T	0.71199	-0.4663	10	0.49607	T	0.09	-23.5511	9.1252	0.36810	0.9193:0.0:0.0807:0.0	.	401	Q9H6X2	ANTR1_HUMAN	R	401	ENSP00000301945:K401R	ENSP00000301945:K401R	K	+	2	0	ANTXR1	69263145	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.689000	0.61723	2.235000	0.73313	0.459000	0.35465	AAG	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251770.2		+	ENST00000303714.4	Missense_Mutation	SNP	2 : 69409641 - 69409641 G PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	443	5
ATM	472	broad.mit.edu	37	11	108199926	108199926	+	Missense_Mutation	SNP	A	A	G	rs121434221		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr11:108199926A>G	ENST00000452508.2	+	50	7457	c.7268A>G	c.(7267-7269)gAa>gGa	p.E2423G	ATM_ENST00000278616.4_Missense_Mutation_p.E2423G|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2423	FAT.		E -> G (in mantle cell lymphoma).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.E2423G(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCCAAAGAGGAAGTAGGTCTC	0.368		NA	D, Mis, N, F, S		T-PLL	leukemia, lymphoma, medulloblastoma, glioma		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		L, O	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											68	67	68			NA	NA	11		NA											NA				108199926		2201	4298	6499	SO:0001583	missense	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311	472	472			795	protein-coding gene	gene with protein product	TEL1, telomere maintenance 1, homolog (S. cerevisiae)	607585	ataxia telangiectasia mutated (includes complementation groups A, C and D), ataxia telangiectasia mutated	ATA, ATDC, ATC, ATD	NA		Standard	NM_000051	XM_005271561	NA	Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7268A>G	11.37:g.108199926A>G	ENSP00000388058:p.Glu2423Gly	NA	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	31	5.072143	0.93950	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.69561	-0.41;-0.41	5.4	5.4	0.78164	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81034	0.4739	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82047	-0.0651	10	0.48119	T	0.1	.	15.4276	0.75065	1.0:0.0:0.0:0.0	.	2423	Q13315	ATM_HUMAN	G	2423	ENSP00000278616:E2423G;ENSP00000388058:E2423G	ENSP00000278616:E2423G	E	+	2	0	ATM	107705136	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.332000	0.96446	2.038000	0.60285	0.528000	0.53228	GAA	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389938.1		+	ENST00000452508.2	Missense_Mutation	SNP	11 : 108199926 - 108199926 G PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	328	162
ATP1A3	478	broad.mit.edu	37	19	42480634	42480634	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr19:42480634G>A	ENST00000545399.1	-	15	2220	c.2067C>T	c.(2065-2067)acC>acT	p.T689T	ATP1A3_ENST00000543770.1_Silent_p.T687T|ATP1A3_ENST00000602133.1_Silent_p.T646T|ATP1A3_ENST00000302102.5_Silent_p.T676T	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	676					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGACGATCTCGGTGTGATTCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	139	155			NA	NA	19		NA											NA				42480634		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	478	478	3.6.3.9	ATPases / P-type	801	protein-coding gene	gene with protein product	sodium/potassium-transporting ATPase subunit alpha-3, sodium pump subunit alpha-3, sodium-potassium ATPase catalytic subunit alpha-3	182350	dystonia 12	DYT12	NA	17282997	Standard	NM_152296	NM_152296	NA	Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000545399.1:c.2067C>T	19.37:g.42480634G>A		NA	Q16732|Q16735|Q969K5	37	CCDS58664.1																																																																																			ATP1A3-008	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268114.2		-	ENST00000545399.1	Silent	SNP	19 : 42480634 - 42480634 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	493	137
BIRC7	79444	broad.mit.edu	37	20	61867525	61867525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr20:61867525C>T	ENST00000217169.3	+	1	291	c.77C>T	c.(76-78)aCg>aTg	p.T26M	BIRC7_ENST00000342412.6_Missense_Mutation_p.T26M	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	26					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					GATGGTCCCACGCAGGAGCGC	0.662		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	20		NA											NA				61867525		2182	4288	6470	SO:0001583	missense			AF301009	CCDS13512.1, CCDS13513.1	20q13.3	2011-01-25	2011-01-25		ENSG00000101197	ENSG00000101197	79444	79444		Baculoviral IAP repeat containing, RING-type (C3HC4) zinc fingers	13702	protein-coding gene	gene with protein product	melanoma inhibitor of apoptosis protein, kidney inhibitor of apoptosis protein, livin inhibitor-of-apoptosis, livin	605737	baculoviral IAP repeat-containing 7		NA	11024045, 11162435	Standard	NM_139317	NM_139317	NA	Approved	mliap, ML-IAP, KIAP, RNF50	uc002yej.3	Q96CA5	OTTHUMG00000032957	ENST00000217169.3:c.77C>T	20.37:g.61867525C>T	ENSP00000217169:p.Thr26Met	NA	Q9BQV0|Q9H2A8|Q9HAP7	37	CCDS13513.1	.	.	.	.	.	.	.	.	.	.	c	9.412	1.080830	0.20309	.	.	ENSG00000101197	ENST00000342412;ENST00000217169	T;T	0.57273	0.63;0.41	4.73	-1.7	0.08159	.	1.838210	0.03858	N	0.273537	T	0.30230	0.0758	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14438	0.008;0.009;0.01	B;B;B	0.06405	0.002;0.001;0.002	T	0.08269	-1.0730	10	0.28530	T	0.3	.	1.6898	0.02849	0.157:0.1752:0.156:0.5119	.	26;26;26	Q6R308;Q96CA5;Q96CA5-2	.;BIRC7_HUMAN;.	M	26	ENSP00000345213:T26M;ENSP00000217169:T26M	ENSP00000217169:T26M	T	+	2	0	BIRC7	61337970	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.061000	0.14366	-0.160000	0.11002	0.506000	0.49869	ACG	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080114.2		+	ENST00000217169.3	Missense_Mutation	SNP	20 : 61867525 - 61867525 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	77	17
BTBD11	121551	broad.mit.edu	37	12	108010914	108010914	+	Missense_Mutation	SNP	G	G	A	rs147351765		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:108010914G>A	ENST00000280758.5	+	8	2578	c.2050G>A	c.(2050-2052)Gag>Aag	p.E684K	BTBD11_ENST00000357167.4_Missense_Mutation_p.E221K|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Missense_Mutation_p.E684K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E684K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	684						integral to membrane	DNA binding	p.E684K(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGAGCATGGCGAGGAGAACTA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	endometrium(1)|skin(1)											139	116	124			NA	NA	12		NA											NA				108010914		2203	4300	6503	SO:0001583	missense			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136	121551	121551		BTB/POZ domain containing, Ankyrin repeat domain containing	23844	protein-coding gene	gene with protein product					NA		Standard	NM_152322	XM_005268645	NA	Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2050G>A	12.37:g.108010914G>A	ENSP00000280758:p.Glu684Lys	NA	A4FU41|C9J019|C9JK80|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	37	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942606	0.73672	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	T;T;T;T	0.39592	1.26;1.2;1.27;1.07	5.27	5.27	0.74061	Ankyrin repeat-containing domain (4);	0.249509	0.47455	D	0.000233	T	0.35451	0.0932	N	0.11313	0.125	0.80722	D	1	D;P;D;D	0.69078	0.99;0.618;0.98;0.997	P;B;P;P	0.48873	0.481;0.195;0.514;0.593	T	0.35871	-0.9771	10	0.49607	T	0.09	.	18.8886	0.92389	0.0:0.0:1.0:0.0	.	684;221;684;684	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	K	684;684;684;221	ENSP00000280758:E684K;ENSP00000413889:E684K;ENSP00000447319:E684K;ENSP00000349690:E221K	ENSP00000280758:E684K	E	+	1	0	BTBD11	106535044	1.000000	0.71417	0.975000	0.42487	0.961000	0.63080	5.294000	0.65687	2.454000	0.82982	0.655000	0.94253	GAG	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318003.1		+	ENST00000280758.5	Missense_Mutation	SNP	12 : 108010914 - 108010914 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	691	98
C16orf62	57020	broad.mit.edu	37	16	19621689	19621689	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr16:19621689G>A	ENST00000438132.3	+	12	1290	c.1242G>A	c.(1240-1242)ggG>ggA	p.G414G	C16orf62_ENST00000417362.2_Silent_p.G325G|C16orf62_ENST00000542263.1_Silent_p.G414G|C16orf62_ENST00000251143.5_Silent_p.G325G|C16orf62_ENST00000543152.1_Silent_p.G74G|C16orf62_ENST00000448695.1_Silent_p.G175G	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	325						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGATCAGAGGGATCGGAGACC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	86	95			NA	NA	16		NA											NA				19621689		2197	4300	6497	SO:0001819	synonymous_variant				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544	57020	57020			24641	protein-coding gene	gene with protein product					NA	10493829	Standard	NM_020314	NM_020314	NA	Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000438132.3:c.1242G>A	16.37:g.19621689G>A		NA	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	37	CCDS32397.2																																																																																			C16orf62-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397058.2		+	ENST00000438132.3	Silent	SNP	16 : 19621689 - 19621689 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	301	84
C20orf112	0	broad.mit.edu	37	20	31043974	31043974	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr20:31043974C>T	ENST00000359676.5	-	3	476	c.334G>A	c.(334-336)Ggt>Agt	p.G112S	C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN		112										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CCGTCGGCACCGCAGCCATCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	64	63			NA	NA	20		NA											NA				31043974		2203	4298	6501	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000359676.5:c.334G>A	20.37:g.31043974C>T	ENSP00000352704:p.Gly112Ser	NA	Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	37	CCDS13202.1	.	.	.	.	.	.	.	.	.	.	C	3.429	-0.116427	0.06881	.	.	ENSG00000197183	ENST00000359676;ENST00000397984	.	.	.	4.98	-0.0961	0.13638	.	0.486110	0.19807	N	0.105638	T	0.15478	0.0373	N	0.02011	-0.69	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.14699	-1.0463	9	0.08599	T	0.76	-3.2168	7.111	0.25390	0.0:0.312:0.0:0.688	.	112	Q96MY1	CT112_HUMAN	S	112	.	ENSP00000352704:G112S	G	-	1	0	C20orf112	30507635	0.003000	0.15002	0.036000	0.18154	0.019000	0.09904	-0.563000	0.05943	0.071000	0.16664	-0.367000	0.07326	GGT	C20orf112-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078628.2		-	ENST00000359676.5	Missense_Mutation	SNP	20 : 31043974 - 31043974 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	866	225
C9orf172	389813	broad.mit.edu	37	9	139739952	139739952	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:139739952C>T	ENST00000436881.1	+	1	1086	c.1086C>T	c.(1084-1086)ccC>ccT	p.P362P		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	362	Pro-rich.									endometrium(2)|large_intestine(1)|lung(6)	9						GCTATGTCCCCGAGGAGCCCC	0.697		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	9		NA											NA				139739952		1728	3874	5602	SO:0001819	synonymous_variant				CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434	389813	389813			37284	protein-coding gene	gene with protein product					NA		Standard	NM_001080482	NM_001080482	NA	Approved		uc011meh.2	C9J069		ENST00000436881.1:c.1086C>T	9.37:g.139739952C>T		NA		37	CCDS48059.1																																																																																			C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			+	ENST00000436881.1	Silent	SNP	9 : 139739952 - 139739952 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	85	18
CACNA1B	774	broad.mit.edu	37	9	140880965	140880965	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:140880965G>A	ENST00000371372.1	+	14	2015	c.1870G>A	c.(1870-1872)Gcc>Acc	p.A624T	CACNA1B_ENST00000371363.1_Missense_Mutation_p.A624T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A625T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A625T|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A624T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	624					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGTGGTCTTCGCCCTGCTGGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	59	58			NA	NA	9		NA											NA				140880965		2088	4237	6325	SO:0001583	missense			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408	774	774		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1389	protein-coding gene	gene with protein product		601012		CACNL1A5	NA	8825650, 16382099	Standard	NM_000718	NM_000718	NA	Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1870G>A	9.37:g.140880965G>A	ENSP00000360423:p.Ala624Thr	NA	B1AQK5	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082671	0.76528	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	D	0.99013	0.9663	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99719	1.1009	10	0.87932	D	0	.	17.2437	0.87021	0.0:0.0:1.0:0.0	.	624;624	B1AQK4;B1AQK6	.;.	T	624;624;624;625;625	ENSP00000360423:A624T;ENSP00000277551:A624T;ENSP00000360414:A624T;ENSP00000360408:A625T;ENSP00000360406:A625T	ENSP00000277551:A624T	A	+	1	0	CACNA1B	140000786	1.000000	0.71417	0.982000	0.44146	0.975000	0.68041	9.499000	0.97975	2.107000	0.64212	0.462000	0.41574	GCC	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055380.1		+	ENST00000371372.1	Missense_Mutation	SNP	9 : 140880965 - 140880965 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	228	25
CALN1	83698	broad.mit.edu	37	7	71252799	71252799	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr7:71252799C>T	ENST00000395275.2	-	7	1135	c.747G>A	c.(745-747)ctG>ctA	p.L249L	CALN1_ENST00000405452.2_Silent_p.L207L|CALN1_ENST00000412588.1_Silent_p.L249L|CALN1_ENST00000395276.2_Silent_p.L207L|CALN1_ENST00000431984.1_Silent_p.L207L|CALN1_ENST00000329008.5_Silent_p.L207L	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	207						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.L249L(1)|p.L207L(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGGCTGCAATCAGCATGACAC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	lung(2)											118	92	101			NA	NA	7		NA											NA				71252799		2203	4300	6503	SO:0001819	synonymous_variant			AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166	83698	83698		EF-hand domain containing	13248	protein-coding gene	gene with protein product	calcium-binding protein CABP8	607176			NA	11286509	Standard	NM_031468	NM_031468	NA	Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000395275.2:c.747G>A	7.37:g.71252799C>T		NA		37	CCDS47603.1																																																																																			CALN1-006	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320083.1		-	ENST00000395275.2	Silent	SNP	7 : 71252799 - 71252799 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	378	107
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Nonsense_Mutation	SNP	C	C	A	rs121913384		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:21971096C>A	ENST00000479692.2	-	2	123	c.109G>T	c.(109-111)Gag>Tag	p.E37*	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102V|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143V|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000304494.5_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102V|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E88*			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1388	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(15)|Substitution - Missense(5)|Deletion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(57)|soft_tissue(57)|oesophagus(56)|pleura(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(13)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(9)|meninges(9)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CM034218	CDKN2A	M	rs121913384						13	16	15			NA	NA	9		NA											NA				21971096		2176	4259	6435	SO:0001587	stop_gained			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889	1029	1029			1787	protein-coding gene	gene with protein product		600160	cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	CDKN2, MLM	NA	8152487, 7606716	Standard	NM_000077	NM_058195	NA	Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000479692.2:c.109G>T	9.37:g.21971096C>A	ENSP00000466887:p.Glu37*	NA	D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.530771|7.530771	0.98342|0.98342	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	.|D;D	.|0.87412	.|-2.25;-2.14	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.215520	.|0.23483	.|N	.|0.047681	.|D	.|0.89287	.|0.6672	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.63880	.|0.993	.|P	.|0.58660	.|0.843	.|D	.|0.89966	.|0.4090	.|10	0.24483|0.87932	T|D	0.36|0	.|.	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|143	.|Q8N726	.|CD2A2_HUMAN	X|V	88|143;102	.|ENSP00000355153:G143V;ENSP00000432664:G102V	ENSP00000307101:E88X|ENSP00000355153:G143V	E|G	-|-	1|2	0|0	CDKN2A|CDKN2A	21961096|21961096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.901000|3.901000	0.56303|0.56303	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAG|GGA	CDKN2A-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000051922.3		-	ENST00000479692.2	Nonsense_Mutation	SNP	9 : 21971096 - 21971096 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	180	56
CEP85	64793	broad.mit.edu	37	1	26581980	26581980	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:26581980C>T	ENST00000252992.4	+	4	658	c.527C>T	c.(526-528)gCg>gTg	p.A176V	CEP85_ENST00000451429.2_Missense_Mutation_p.A125V	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	176						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						CAAGAAGAGGCGAGGAAGTTT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	84	84			NA	NA	1		NA											NA				26581980		2203	4300	6503	SO:0001583	missense			AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695	64793	64793			25309	protein-coding gene	gene with protein product			coiled-coil domain containing 21	CCDC21	NA	12477932	Standard	NM_022778	NM_022778	NA	Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.527C>T	1.37:g.26581980C>T	ENSP00000252992:p.Ala176Val	NA	D3DPK4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	37	CCDS277.1	.	.	.	.	.	.	.	.	.	.	C	3.395	-0.123480	0.06795	.	.	ENSG00000130695	ENST00000451429;ENST00000252992	T;T	0.13538	2.58;2.81	5.43	2.86	0.33363	.	1.267330	0.04842	N	0.440673	T	0.10294	0.0252	N	0.22421	0.69	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.06405	0.0;0.001;0.002	T	0.37549	-0.9701	10	0.22706	T	0.39	0.0703	6.6028	0.22710	0.0:0.3523:0.0:0.6477	.	125;176;176	F8W7K4;Q6P2H3;Q6P2H3-2	.;CEP85_HUMAN;.	V	125;176	ENSP00000417002:A125V;ENSP00000252992:A176V	ENSP00000252992:A176V	A	+	2	0	CEP85	26454567	0.011000	0.17503	0.419000	0.26584	0.420000	0.31355	0.261000	0.18442	0.442000	0.26555	-0.290000	0.09829	GCG	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009492.2		+	ENST00000252992.4	Missense_Mutation	SNP	1 : 26581980 - 26581980 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	528	75
CLEC2D	29121	broad.mit.edu	37	12	9840545	9840545	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:9840545G>A	ENST00000261340.7	+	3	242	c.220G>A	c.(220-222)Gca>Aca	p.A74T	CLEC2D_ENST00000261339.6_Missense_Mutation_p.A37T|CLEC2D_ENST00000543300.1_Missense_Mutation_p.A74T|CLEC2D_ENST00000545918.1_Missense_Mutation_p.A37T|CLEC2D_ENST00000290855.6_Missense_Mutation_p.A74T	NM_001004419.4	NP_001004419.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	74					cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						TCTTCAAGCTGCATGCCCAGA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	85	85			NA	NA	12		NA											NA				9840545		2203	4300	6503	SO:0001583	missense			AF133299	CCDS8602.1, CCDS31741.1, CCDS55800.1, CCDS55801.1, CCDS55802.1	12p13.31	2011-05-24	2005-09-29		ENSG00000069493	ENSG00000069493	29121	29121		C-type lectin domain containing	14351	protein-coding gene	gene with protein product	C-type lectin related f, lectin-like transcript 1	605659	C-type lectin superfamily 2, member D		NA		Standard	NM_013269	NM_013269	NA	Approved	LLT1, CLAX, OCIL	uc001qwf.3	Q9UHP7	OTTHUMG00000168369	ENST00000261340.7:c.220G>A	12.37:g.9840545G>A	ENSP00000261340:p.Ala74Thr	NA	D6CI39|D6CI40|D6CI41|Q6YID5|Q8WUP7|Q9HD37|Q9HD38	37	CCDS31741.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268812	0.23136	.	.	ENSG00000069493	ENST00000479410;ENST00000261340;ENST00000290855;ENST00000545918;ENST00000543300;ENST00000261339;ENST00000466035;ENST00000430909;ENST00000544322;ENST00000460309	T;T;T;T;T;T;T;T;T;T	0.63096	-0.02;0.96;0.96;-0.02;-0.02;0.96;0.96;-0.02;-0.02;0.96	3.17	2.01	0.26516	C-type lectin-like (1);	0.215967	0.20083	U	0.099615	T	0.46619	0.1402	N	0.22421	0.69	0.09310	N	1	B;B;B	0.31790	0.104;0.112;0.34	B;B;B	0.40009	0.316;0.05;0.316	T	0.32903	-0.9889	9	.	.	.	-6.2397	5.3342	0.15949	0.2405:0.0:0.7595:0.0	.	74;74;74	Q9UHP7-5;Q9UHP7;Q9UHP7-3	.;CLC2D_HUMAN;.	T	32;74;74;37;74;37;31;53;48;17	ENSP00000442252:A32T;ENSP00000261340:A74T;ENSP00000290855:A74T;ENSP00000444818:A37T;ENSP00000443065:A74T;ENSP00000261339:A37T;ENSP00000446028:A31T;ENSP00000413045:A53T;ENSP00000437861:A48T;ENSP00000443177:A17T	.	A	+	1	0	CLEC2D	9731812	0.000000	0.05858	0.002000	0.10522	0.063000	0.16089	-1.111000	0.03303	0.390000	0.25115	0.430000	0.28490	GCA	CLEC2D-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335428.2		+	ENST00000261340.7	Missense_Mutation	SNP	12 : 9840545 - 9840545 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	594	7
CLEC4F	165530	broad.mit.edu	37	2	71036948	71036948	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:71036948G>A	ENST00000426626.1	-	6	1604	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	CLEC4F_ENST00000272367.2_Silent_p.I527I			Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	527	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAGTGAGACCGATCCAGTAGT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(107;10 2157 6841 26035)							NA				0													140	132	135			NA	NA	2		NA											NA				71036948		2203	4300	6503	SO:0001819	synonymous_variant			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672	165530	165530		C-type lectin domain containing	25357	protein-coding gene	gene with protein product			C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13	CLECSF13	NA	8889548, 1846367	Standard	NM_173535	NM_001258027	NA	Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000426626.1:c.1581C>T	2.37:g.71036948G>A		NA		37																																																																																				CLEC4F-002	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000330185.2		-	ENST00000426626.1	Silent	SNP	2 : 71036948 - 71036948 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	657	167
CNTNAP5	129684	broad.mit.edu	37	2	125367458	125367458	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:125367458G>A	ENST00000431078.1	+	12	2198	c.1834G>A	c.(1834-1836)Ggc>Agc	p.G612S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	612	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGATGGCAGCGGCCCACTGGG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	70	70			NA	NA	2		NA											NA				125367458		1877	4111	5988	SO:0001583	missense			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052	129684	129684			18748	protein-coding gene	gene with protein product		610519			NA		Standard		NM_130773	NA	Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1834G>A	2.37:g.125367458G>A	ENSP00000399013:p.Gly612Ser	NA	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332205	0.95733	.	.	ENSG00000155052	ENST00000431078	T	0.59772	0.24	5.66	5.66	0.87406	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.000000	0.50627	D	0.000112	D	0.83348	0.5235	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86857	0.2027	10	0.62326	D	0.03	.	18.6671	0.91495	0.0:0.0:1.0:0.0	.	612	Q8WYK1	CNTP5_HUMAN	S	612	ENSP00000399013:G612S	ENSP00000399013:G612S	G	+	1	0	CNTNAP5	125083928	1.000000	0.71417	0.887000	0.34795	0.787000	0.44495	8.884000	0.92432	2.826000	0.97356	0.655000	0.94253	GGC	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330864.3		+	ENST00000431078.1	Missense_Mutation	SNP	2 : 125367458 - 125367458 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	591	56
CPPED1	55313	broad.mit.edu	37	16	12875142	12875142	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr16:12875142C>A	ENST00000381774.4	-	2	429	c.189G>T	c.(187-189)caG>caT	p.Q63H	CPPED1_ENST00000261660.4_Missense_Mutation_p.Q63H|CPPED1_ENST00000433677.2_Missense_Mutation_p.Q63H	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	63							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						GACGGATCTCCTGTTCCCATT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	121	118			NA	NA	16		NA											NA				12875142		2077	4205	6282	SO:0001583	missense			AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381	55313	55313			25632	protein-coding gene	gene with protein product	complete S transactivated protein 1	615603			NA	12477932	Standard	NM_018340	NM_018340	NA	Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.189G>T	16.37:g.12875142C>A	ENSP00000371193:p.Gln63His	NA	Q6MZY9|Q9H9M9|Q9NUT6	37	CCDS42120.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603337	0.46423	.	.	ENSG00000103381	ENST00000381774;ENST00000433677;ENST00000261660	T;T;T	0.03358	3.96;4.02;3.96	5.25	4.29	0.51040	.	0.231983	0.42964	D	0.000630	T	0.08268	0.0206	L	0.56769	1.78	0.43885	D	0.996505	P;B	0.40875	0.731;0.01	P;B	0.47528	0.549;0.026	T	0.01814	-1.1268	10	0.62326	D	0.03	-22.7053	10.8774	0.46919	0.0:0.9093:0.0:0.0907	.	63;63	Q9BRF8-2;Q9BRF8	.;CPPED_HUMAN	H	63	ENSP00000371193:Q63H;ENSP00000411127:Q63H;ENSP00000261660:Q63H	ENSP00000261660:Q63H	Q	-	3	2	CPPED1	12782643	1.000000	0.71417	0.999000	0.59377	0.801000	0.45260	2.390000	0.44416	2.450000	0.82876	0.563000	0.77884	CAG	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395795.2		-	ENST00000381774.4	Missense_Mutation	SNP	16 : 12875142 - 12875142 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	286	78
DHX15	1665	broad.mit.edu	37	4	24578266	24578266	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr4:24578266C>T	ENST00000336812.4	-	2	263	c.107G>A	c.(106-108)cGg>cAg	p.R36Q		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	36					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				ATCTTTAGACCGATCTTCACG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	105	110			NA	NA	4		NA											NA				24578266		2203	4300	6503	SO:0001583	missense			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606	1665	1665		DEAH-boxes	2738	protein-coding gene	gene with protein product		603403	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15, DEAH (Asp-Glu-Ala-His) box polypeptide 15	DDX15	NA	9388478	Standard	NM_001358	NM_001358	NA	Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.107G>A	4.37:g.24578266C>T	ENSP00000336741:p.Arg36Gln	NA	Q9NQT7	37	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842965	0.71488	.	.	ENSG00000109606	ENST00000336812	T	0.60920	0.15	5.59	4.74	0.60224	.	0.070853	0.56097	D	0.000027	T	0.29652	0.0740	N	0.08118	0	0.80722	D	1	P	0.43352	0.804	B	0.30316	0.114	T	0.24012	-1.0172	10	0.13853	T	0.58	-7.751	14.6282	0.68638	0.0:0.9285:0.0:0.0715	.	36	O43143	DHX15_HUMAN	Q	36	ENSP00000336741:R36Q	ENSP00000336741:R36Q	R	-	2	0	DHX15	24187364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.772000	0.68889	2.648000	0.89879	0.650000	0.86243	CGG	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360143.1		-	ENST00000336812.4	Missense_Mutation	SNP	4 : 24578266 - 24578266 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	267	104
DOCK10	55619	broad.mit.edu	37	2	225659771	225659771	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:225659771C>T	ENST00000409592.3	-	45	5074	c.4961G>A	c.(4960-4962)cGt>cAt	p.R1654H	DOCK10_ENST00000258390.7_Missense_Mutation_p.R1660H			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1660	DHR-2.						GTP binding	p.R1658H(1)|p.R198H(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGTCCTTATACGCTTAGTCAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)											142	143	143			NA	NA	2		NA											NA				225659771		2005	4185	6190	SO:0001583	missense			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905	55619	55619		Pleckstrin homology (PH) domain containing	23479	protein-coding gene	gene with protein product	zizimin3	611518			NA	12432077	Standard		NM_014689	NA	Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000409592.3:c.4961G>A	2.37:g.225659771C>T	ENSP00000386694:p.Arg1654His	NA	O75178|Q9NW06|Q9NXI8	37		.	.	.	.	.	.	.	.	.	.	C	35	5.577896	0.96565	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.65178	4.66;-0.14	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83603	0.5290	M	0.91090	3.175	0.58432	D	0.999999	D;P;D;D	0.76494	0.972;0.95;0.984;0.999	B;B;P;D	0.64410	0.444;0.439;0.74;0.925	D	0.86564	0.1843	10	0.87932	D	0	.	20.0637	0.97700	0.0:1.0:0.0:0.0	.	1660;514;1654;322	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	H	1654;1660;198	ENSP00000386694:R1654H;ENSP00000258390:R1660H	ENSP00000258390:R1660H	R	-	2	0	DOCK10	225368015	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	7.487000	0.81328	2.751000	0.94390	0.650000	0.86243	CGT	DOCK10-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000331158.2		-	ENST00000409592.3	Missense_Mutation	SNP	2 : 225659771 - 225659771 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	709	10
DOCK8	81704	broad.mit.edu	37	9	372257	372257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:372257C>T	ENST00000469391.1	+	17	1955	c.1876C>T	c.(1876-1878)Cca>Tca	p.P626S	DOCK8_ENST00000432829.2_Missense_Mutation_p.P626S|DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000453981.1_Missense_Mutation_p.P694S	NM_001190458.1|NM_001193536.1	NP_001177387.1|NP_001180465.1	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	694					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAAAAATTGCCACCCAACTA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	111	115			NA	NA	9		NA											NA				372257		2203	4300	6503	SO:0001583	missense			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099	81704	81704			19191	protein-coding gene	gene with protein product		611432			NA	11214971	Standard	XM_036307	NM_203447	NA	Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000469391.1:c.1876C>T	9.37:g.372257C>T	ENSP00000419438:p.Pro626Ser	NA	A2A350|A2BDF2|A4FU78|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	37	CCDS55284.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948470	0.92593	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.996;1.0	T	0.24261	-1.0165	10	0.72032	D	0.01	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	626;161;694	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	S	694;694;626;626;161	ENSP00000408464:P694S;ENSP00000394888:P626S;ENSP00000419438:P626S;ENSP00000371766:P161S	ENSP00000287364:P694S	P	+	1	0	DOCK8	362257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.329000	0.79170	2.814000	0.96858	0.655000	0.94253	CCA	DOCK8-012	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354646.1		+	ENST00000469391.1	Missense_Mutation	SNP	9 : 372257 - 372257 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	418	5
DYSF	8291	broad.mit.edu	37	2	71740934	71740934	+	Silent	SNP	T	T	C			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:71740934T>C	ENST00000258104.3	+	6	823	c.546T>C	c.(544-546)gcT>gcC	p.A182A	DYSF_ENST00000413539.2_Silent_p.A213A|DYSF_ENST00000409762.1_Silent_p.A213A|DYSF_ENST00000409366.1_Silent_p.A183A|DYSF_ENST00000409744.1_Silent_p.A183A|DYSF_ENST00000394120.2_Silent_p.A183A|DYSF_ENST00000409582.3_Silent_p.A213A|DYSF_ENST00000409651.1_Silent_p.A214A|DYSF_ENST00000410020.3_Silent_p.A214A|DYSF_ENST00000429174.2_Silent_p.A182A|DYSF_ENST00000410041.1_Silent_p.A214A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	182						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCCCGGGGGCTCCCACCACCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	54	54			NA	NA	2		NA											NA				71740934		2203	4300	6503	SO:0001819	synonymous_variant			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636	8291	8291			3097	protein-coding gene	gene with protein product	fer-1-like family member 1	603009	limb girdle muscular dystrophy 2B (autosomal recessive)	LGMD2B	NA	8320700	Standard	NM_003494	NM_003494	NA	Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.546T>C	2.37:g.71740934T>C		NA	B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	37	CCDS1918.1																																																																																			DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251970.3		+	ENST00000258104.3	Silent	SNP	2 : 71740934 - 71740934 C PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	315	17
ENDOG	2021	broad.mit.edu	37	9	131584646	131584646	+	Silent	SNP	C	C	A	rs141194619		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:131584646C>A	ENST00000372642.4	+	3	862	c.651C>A	c.(649-651)gtC>gtA	p.V217V	C9orf114_ENST00000361256.5_3'UTR	NM_004435.2	NP_004426.2	Q14249	NUCG_HUMAN	endonuclease G	217						mitochondrion	endonuclease activity|metal ion binding|nucleic acid binding				NA						AGTACCAGGTCATCGGCAAGA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	77	80			NA	NA	9		NA											NA				131584646		2203	4300	6503	SO:0001819	synonymous_variant			X79444	CCDS6912.1	9q34.1	2008-06-04			ENSG00000167136	ENSG00000167136	2021	2021			3346	protein-coding gene	gene with protein product		600440			NA	7789991	Standard	NM_004435	NM_004435	NA	Approved		uc004bwc.3	Q14249	OTTHUMG00000020763	ENST00000372642.4:c.651C>A	9.37:g.131584646C>A		NA	Q5T281|Q9BSP2	37	CCDS6912.1																																																																																			ENDOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054505.1		+	ENST00000372642.4	Silent	SNP	9 : 131584646 - 131584646 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	203	23
EPHA8	2046	broad.mit.edu	37	1	22925390	22925390	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:22925390C>T	ENST00000166244.3	+	13	2310	c.2238C>T	c.(2236-2238)gcC>gcT	p.A746A		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	746	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGTGGGTGCCGGCATGCGCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	57	60			NA	NA	1		NA											NA				22925390		2201	4300	6501	SO:0001819	synonymous_variant			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2046	2046	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3391	protein-coding gene	gene with protein product		176945	EphA8	EEK	NA	1648701	Standard	NM_020526	NM_001006943	NA	Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2238C>T	1.37:g.22925390C>T		NA	Q9NUA9|Q9P269	37	CCDS225.1																																																																																			EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008085.1		+	ENST00000166244.3	Silent	SNP	1 : 22925390 - 22925390 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	163	24
ERBB2	2064	broad.mit.edu	37	17	37881332	37881332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:37881332G>A	ENST00000584450.1	+	21	2739	c.2524G>A	c.(2524-2526)Gta>Ata	p.V842I	ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I|ERBB2_ENST00000269571.5_Missense_Mutation_p.V842I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I|ERBB2_ENST00000406381.2_Missense_Mutation_p.V812I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	842	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V842I(6)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGTGCGGCTCGTACACAGGGA	0.597		1	A, Mis, O		breast, ovarian, other tumour types, NSCLC, gastric					TCGA GBM(5;<1E-08)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q21.1	2064	v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)		E	6	Substitution - Missense(6)	large_intestine(5)|stomach(1)											70	61	64			NA	NA	17		NA											NA				37881332		2203	4300	6503	SO:0001583	missense			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736	2064	2064		CD molecules	3430	protein-coding gene	gene with protein product	neuro/glioblastoma derived oncogene homolog	164870	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)	NGL	NA		Standard		XM_005257140	NA	Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000584450.1:c.2524G>A	17.37:g.37881332G>A	ENSP00000463714:p.Val842Ile	NA	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4	37		.	.	.	.	.	.	.	.	.	.	G	16.87	3.241303	0.58995	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.09	5.09	0.68999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.85106	0.5621	N	0.21142	0.635	0.80722	D	1	D;D;D	0.76494	0.997;0.979;0.999	D;P;D	0.64506	0.92;0.559;0.926	D	0.87344	0.2333	9	0.87932	D	0	.	18.2846	0.90110	0.0:0.0:1.0:0.0	.	566;827;842	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	I	812;827;566;842;812	ENSP00000385185:V812I;ENSP00000446466:V827I;ENSP00000404047:V566I;ENSP00000269571:V842I;ENSP00000443562:V812I	ENSP00000269571:V842I	V	+	1	0	ERBB2	35134858	1.000000	0.71417	0.919000	0.36401	0.900000	0.52787	9.657000	0.98554	2.651000	0.90000	0.563000	0.77884	GTA	ERBB2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000445618.1		+	ENST00000584450.1	Missense_Mutation	SNP	17 : 37881332 - 37881332 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	502	93
FBXW10	10517	broad.mit.edu	37	17	18653265	18653265	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:18653265A>G	ENST00000308799.4	+	3	1120	c.901A>G	c.(901-903)Aga>Gga	p.R301G	FBXW10_ENST00000301938.4_Intron|FBXW10_ENST00000395665.4_Intron|FBXW10_ENST00000395667.1_Intron			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	293	F-box.									NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GGGATTTCCCAGACACCTCCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	42	43			NA	NA	17		NA											NA				18653265		2203	4297	6500	SO:0001583	missense			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931	10517	10517		F-boxes / WD-40 domains, WD repeat domain containing	1211	protein-coding gene	gene with protein product		611679	chromosome 17 open reading frame 1A, F-box and WD-40 domain protein 10	C17orf1, C17orf1A	NA	9787083, 7586531	Standard	NM_031456	NM_001267585	NA	Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000308799.4:c.901A>G	17.37:g.18653265A>G	ENSP00000310382:p.Arg301Gly	NA	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	37		.	.	.	.	.	.	.	.	.	.	A	5.341	0.248242	0.10130	.	.	ENSG00000171931	ENST00000308799	T	0.57436	0.4	2.49	1.37	0.22104	.	1.893690	0.04170	U	0.324554	T	0.40886	0.1135	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32719	-0.9896	9	0.66056	D	0.02	.	4.4103	0.11429	0.8269:0.0:0.1731:0.0	.	301	Q5XX13-2	.	G	301	ENSP00000310382:R301G	ENSP00000310382:R301G	R	+	1	2	FBXW10	18593990	0.000000	0.05858	0.028000	0.17463	0.276000	0.26787	0.692000	0.25482	0.203000	0.20529	0.333000	0.21579	AGA	FBXW10-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000130663.1		+	ENST00000308799.4	Missense_Mutation	SNP	17 : 18653265 - 18653265 G PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	714	198
FLG	2312	broad.mit.edu	37	1	152280068	152280068	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:152280068C>T	ENST00000368799.1	-	3	7329	c.7294G>A	c.(7294-7296)Ggg>Agg	p.G2432R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2432	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCTGGTCCCGGTCCGTCCA	0.592		NA							Ichthyosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													264	243	250			NA	NA	1		NA											NA				152280068		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631	2312	2312		EF-hand domain containing	3748	protein-coding gene	gene with protein product		135940			NA	2740331, 2248957, 16444271	Standard	NM_002016	NM_002016	NA	Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7294G>A	1.37:g.152280068C>T	ENSP00000357789:p.Gly2432Arg	NA	Q01720|Q5T583|Q9UC71	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291031	0.23564	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	4.37	-6.56	0.01848	.	.	.	.	.	T	0.00300	0.0009	N	0.21448	0.665	0.09310	N	1	B	0.27013	0.166	B	0.16289	0.015	T	0.47935	-0.9078	9	0.14656	T	0.56	.	1.9786	0.03421	0.1118:0.2438:0.3309:0.3135	.	2432	P20930	FILA_HUMAN	R	2432	ENSP00000357789:G2432R	ENSP00000357789:G2432R	G	-	1	0	FLG	150546692	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.200000	0.03029	-1.351000	0.02197	-2.865000	0.00100	GGG	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033742.1		-	ENST00000368799.1	Missense_Mutation	SNP	1 : 152280068 - 152280068 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	1844	643
GABRB2	2561	broad.mit.edu	37	5	160721244	160721244	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:160721244C>T	ENST00000393959.1	-	10	1382	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A	GABRB2_ENST00000353437.6_Silent_p.A423A|GABRB2_ENST00000517901.1_Silent_p.A360A|GABRB2_ENST00000517547.1_Silent_p.A263A|GABRB2_ENST00000520240.1_Silent_p.A423A|GABRB2_ENST00000274547.2_Silent_p.A461A			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	461					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTTCTTTTGCGCCACATGTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	98	101			NA	NA	5		NA											NA				160721244		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864	NA	2561		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4082	protein-coding gene	gene with protein product	GABA(A) receptor, beta 2	600232			NA	7851879	Standard		NM_000813	NA	Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1383G>A	5.37:g.160721244C>T		NA	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	37	CCDS4355.1																																																																																			GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252704.1		-	ENST00000393959.1	Silent	SNP	5 : 160721244 - 160721244 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	453	127
GABRD	2563	broad.mit.edu	37	1	1961126	1961126	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:1961126C>T	ENST00000378585.4	+	8	1067	c.984C>T	c.(982-984)taC>taT	p.Y328Y		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	328						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TGGTGGAGTACGCCTTTGCTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	114	119			NA	NA	1		NA											NA				1961126		2200	4300	6500	SO:0001819	synonymous_variant			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730	2563	2563		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4084	protein-coding gene	gene with protein product	GABA(A) receptor, delta	137163			NA	2176788, 10965146	Standard	NM_000815	NM_000815	NA	Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.984C>T	1.37:g.1961126C>T		NA	Q8N4N9	37	CCDS36.1																																																																																			GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098493.1		+	ENST00000378585.4	Silent	SNP	1 : 1961126 - 1961126 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	350	43
GYPA	2993	broad.mit.edu	37	4	145038028	145038028	+	Silent	SNP	G	G	A	rs140442202		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr4:145038028G>A	ENST00000360771.4	-	5	451	c.336C>T	c.(334-336)taC>taT	p.Y112Y	GYPA_ENST00000512789.1_Silent_p.Y47Y|GYPA_ENST00000512064.1_Silent_p.Y99Y|GYPA_ENST00000324022.10_Silent_p.Y79Y|GYPA_ENST00000504786.1_Silent_p.Y80Y|GYPA_ENST00000535709.1_Silent_p.Y86Y|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000503627.1_Silent_p.Y67Y|RP11-673E1.4_ENST00000506982.1_RNA	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	112					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					GGCGAATACCGTAAGAAATTA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	120	123	122		336	-3	0	4	dbSNP_134	122	0,8600		0,0,4300	no	coding-synonymous	GYPA	NM_002099.6		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		112/151	145038028	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			M36281	CCDS34069.1	4q31.21	2014-09-17	2006-02-23		ENSG00000170180	ENSG00000170180	2993	2993		CD molecules, Blood group antigens	4702	protein-coding gene	gene with protein product		111300	glycophorin A (includes MN blood group), glycophorin A (MN blood group)	MNS	NA	3456608	Standard	NM_002099	NM_002099	NA	Approved	GPA, MN, CD235a	uc003ijo.4	P02724	OTTHUMG00000161403	ENST00000360771.4:c.336C>T	4.37:g.145038028G>A		NA	A8K3E6|Q9BS51	37	CCDS34069.1																																																																																			GYPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364783.1		-	ENST00000360771.4	Silent	SNP	4 : 145038028 - 145038028 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	619	6
HMCN1	83872	broad.mit.edu	37	1	185902879	185902879	+	Missense_Mutation	SNP	A	A	G	rs143393655		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:185902879A>G	ENST00000271588.4	+	11	1980	c.1751A>G	c.(1750-1752)aAc>aGc	p.N584S	HMCN1_ENST00000367492.2_Missense_Mutation_p.N584S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	584	Ig-like C2-type 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTGAAATTCAACGATGCTGGA	0.463		NA											A	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0	EXOME	NA	NA	8e-04	SNP								NA				0								A	SER/ASN	0,4406		0,0,2203	155	148	150		1751	-3.4	0	1	dbSNP_134	150	1,8599	1.2+/-3.3	0,1,4299	no	missense	HMCN1	NM_031935.2	46	0,1,6502	GG,GA,AA	NA	0.0116,0.0,0.0077	benign	584/5636	185902879	1,13005	2203	4300	6503	SO:0001583	missense			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341	83872	83872		Fibulins, Immunoglobulin superfamily / I-set domain containing	19194	protein-coding gene	gene with protein product	fibulin 6	608548	age-related macular degeneration 1 (senile macular degeneration)	ARMD1	NA	11222143	Standard	NM_031935	NM_031935	NA	Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1751A>G	1.37:g.185902879A>G	ENSP00000271588:p.Asn584Ser	NA	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	37	CCDS30956.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	A	0.109	-1.141427	0.01728	0.0	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.23950	1.88;1.88	5.67	-3.39	0.04868	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.763207	0.13136	N	0.411053	T	0.04679	0.0127	N	0.00783	-1.19	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38972	-0.9636	10	0.07990	T	0.79	.	2.6597	0.05023	0.2194:0.4469:0.1585:0.1752	.	584	Q96RW7	HMCN1_HUMAN	S	584	ENSP00000271588:N584S;ENSP00000356462:N584S	ENSP00000271588:N584S	N	+	2	0	HMCN1	184169502	0.000000	0.05858	0.001000	0.08648	0.545000	0.35147	-0.230000	0.09083	-0.188000	0.10499	-0.242000	0.12053	AAC	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131848.1		+	ENST00000271588.4	Missense_Mutation	SNP	1 : 185902879 - 185902879 G PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	763	197
HOXC10	3226	broad.mit.edu	37	12	54379388	54379388	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:54379388C>T	ENST00000303460.4	+	1	419	c.345C>T	c.(343-345)agC>agT	p.S115S		NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	115					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						GCATGTACAGCGCAGAGAAGC	0.622		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	12		NA											NA				54379388		2203	4300	6503	SO:0001819	synonymous_variant				CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818	3226	3226		Homeoboxes / ANTP class : HOXL subclass	5122	protein-coding gene	gene with protein product		605560	homeo box C10	HOX3I	NA	1358459	Standard		NM_017409	NA	Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.345C>T	12.37:g.54379388C>T		NA	O15219|O15220|Q9BVD5	37	CCDS8868.1																																																																																			HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358952.2		+	ENST00000303460.4	Silent	SNP	12 : 54379388 - 54379388 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	476	102
IRF4	3662	broad.mit.edu	37	6	401644	401644	+	Silent	SNP	C	C	T	rs113364548	by1000genomes	TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr6:401644C>T	ENST00000380956.4	+	7	1092	c.966C>T	c.(964-966)gaC>gaT	p.D322D		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	322					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		TGGCCCCCGACGGGCTCTATG	0.607		NA	T	IGH@	MM								C	2	9e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0026	NA	NA	9e-04	0.9768	EXOME	NA	NA	0.0016	SNP			Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	0													46	47	47			NA	NA	6		NA											NA				401644		2203	4300	6503	SO:0001819	synonymous_variant			U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265	3662	3662			6119	protein-coding gene	gene with protein product		601900		MUM1	NA	8921401, 18417578	Standard		NM_002460	NA	Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.966C>T	6.37:g.401644C>T		NA	Q5VUI7|Q99660	37	CCDS4469.1																																																																																			IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043638.1		+	ENST00000380956.4	Silent	SNP	6 : 401644 - 401644 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	298	100
KCNB1	3745	broad.mit.edu	37	20	48098546	48098546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr20:48098546G>A	ENST00000371741.4	-	1	638	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	158					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCGCCTTCCCGCTCCCGTAGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	141	152			NA	NA	20		NA											NA				48098546		2203	4300	6503	SO:0001583	missense			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445	3745	3745		Potassium channels, Voltage-gated ion channels / Potassium channels	6231	protein-coding gene	gene with protein product		600397			NA	7774931, 16382104	Standard	NM_004975	NM_004975	NA	Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.472C>T	20.37:g.48098546G>A	ENSP00000360806:p.Arg158Trp	NA	Q14193	37	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774548	0.49786	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96685	-4.09	5.15	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.97309	0.9120	M	0.67397	2.05	0.58432	D	0.999999	D	0.76494	0.999	D	0.68621	0.959	D	0.97675	1.0169	10	0.87932	D	0	.	12.9275	0.58268	0.0:0.0:0.652:0.348	.	158	Q14721	KCNB1_HUMAN	W	158;113	ENSP00000360806:R158W	ENSP00000360806:R158W	R	-	1	2	KCNB1	47531953	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	2.892000	0.48625	1.380000	0.46344	-0.311000	0.09066	CGG	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080374.3		-	ENST00000371741.4	Missense_Mutation	SNP	20 : 48098546 - 48098546 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	832	9
KCTD8	386617	broad.mit.edu	37	4	44176848	44176848	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr4:44176848G>A	ENST00000360029.3	-	2	1664	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	461						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R461C(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGCCATTGGCGTTTGCGCTCT	0.363		NA								HNSCC(17;0.042)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											111	116	114			NA	NA	4		NA											NA				44176848		2203	4300	6503	SO:0001583	missense			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783	386617	386617			22394	protein-coding gene	gene with protein product			potassium channel tetramerisation domain containing 8		NA		Standard		NM_198353	NA	Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1381C>T	4.37:g.44176848G>A	ENSP00000353129:p.Arg461Cys	NA	A2RU39	37	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948563	0.53186	.	.	ENSG00000183783	ENST00000360029	T	0.44083	0.93	4.91	4.91	0.64330	.	0.000000	0.52532	D	0.000075	T	0.50154	0.1599	N	0.24115	0.695	0.46798	D	0.999203	D	0.89917	1.0	D	0.64595	0.927	T	0.54636	-0.8264	10	0.72032	D	0.01	.	17.6253	0.88092	0.0:0.0:1.0:0.0	.	461	Q6ZWB6	KCTD8_HUMAN	C	461	ENSP00000353129:R461C	ENSP00000353129:R461C	R	-	1	0	KCTD8	43871605	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.936000	0.56568	2.699000	0.92147	0.650000	0.86243	CGC	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216868.1		-	ENST00000360029.3	Missense_Mutation	SNP	4 : 44176848 - 44176848 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	725	104
KIAA0586	9786	broad.mit.edu	37	14	58927860	58927860	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr14:58927860G>T	ENST00000423743.3	+	15	2167	c.1909G>T	c.(1909-1911)Gta>Tta	p.V637L	KIAA0586_ENST00000556134.1_Missense_Mutation_p.V666L|KIAA0586_ENST00000354386.6_Missense_Mutation_p.V734L|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.V605L	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	605										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGACCAAAAGTAATAGAACG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	67	69			NA	NA	14		NA											NA				58927860		1836	4091	5927	SO:0001583	missense			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578	9786	9786			19960	protein-coding gene	gene with protein product		610178			NA	16702409	Standard	NM_014749	NM_014749	NA	Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000423743.3:c.1909G>T	14.37:g.58927860G>T	ENSP00000399427:p.Val637Leu	NA		37	CCDS58322.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970319	0.53614	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.8	3.93	0.45458	.	0.098661	0.44483	N	0.000456	T	0.52289	0.1725	L	0.36672	1.1	0.36033	D	0.839523	B;B;D;P;B;B	0.56521	0.197;0.197;0.976;0.879;0.197;0.197	B;B;P;B;B;B	0.52424	0.062;0.062;0.698;0.36;0.062;0.062	T	0.62826	-0.6772	10	0.72032	D	0.01	.	11.1811	0.48629	0.0656:0.2395:0.6949:0.0	.	541;541;734;605;666;637	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	L	734;666;637;605;541	ENSP00000346359:V734L;ENSP00000452351:V666L;ENSP00000399427:V637L;ENSP00000261244:V605L	ENSP00000261244:V605L	V	+	1	0	KIAA0586	57997613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.740000	0.26188	0.751000	0.32900	0.650000	0.86243	GTA	KIAA0586-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411988.2		+	ENST00000423743.3	Missense_Mutation	SNP	14 : 58927860 - 58927860 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	162	37
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	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-8127-Tumor-SM-3MVD8	146	57
KRTAP4-4	84616	broad.mit.edu	37	17	39316570	39316570	+	Missense_Mutation	SNP	T	T	C	rs111563615		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:39316570T>C	ENST00000390661.3	-	1	413	c.374A>G	c.(373-375)tAc>tGc	p.Y125C		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	125	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGACACACAGTAGCTGGGGCA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	49	46			NA	NA	17		NA											NA				39316570		2202	4297	6499	SO:0001583	missense			AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396	84616	84616		Keratin associated proteins	16928	protein-coding gene	gene with protein product			keratin associated protein 4-13	KRTAP4-13	NA	11279113	Standard		NM_032524	NA	Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.374A>G	17.37:g.39316570T>C	ENSP00000375076:p.Tyr125Cys	NA	Q9BYU7	37	CCDS11383.1	.	.	.	.	.	.	.	.	.	.	.	0.686	-0.796392	0.02862	.	.	ENSG00000171396	ENST00000390661	T	0.00686	5.85	5.48	3.47	0.39725	.	1.549040	0.04692	U	0.414286	T	0.00241	0.0007	N	0.00020	-2.77	0.21627	N	0.999613	B	0.02656	0.0	B	0.04013	0.001	T	0.44159	-0.9346	10	0.02654	T	1	.	8.5299	0.33329	0.1529:0.7654:0.0:0.0817	.	125	Q9BYR3	KRA44_HUMAN	C	125	ENSP00000375076:Y125C	ENSP00000375076:Y125C	Y	-	2	0	KRTAP4-4	36570096	0.999000	0.42202	0.003000	0.11579	0.023000	0.10783	0.629000	0.24538	0.672000	0.31204	-0.137000	0.14449	TAC	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257291.1		-	ENST00000390661.3	Missense_Mutation	SNP	17 : 39316570 - 39316570 C PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	564	10
KRTAP9-3	83900	broad.mit.edu	37	17	39389179	39389179	+	Silent	SNP	C	C	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:39389179C>A	ENST00000411528.2	+	1	465	c.426C>A	c.(424-426)acC>acA	p.T142T		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	142	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCAGGACCACTTGTTTCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	164	153			NA	NA	17		NA											NA				39389179		2105	4300	6405	SO:0001819	synonymous_variant			AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873	83900	83900		Keratin associated proteins	16927	protein-coding gene	gene with protein product					NA	11279113	Standard		NM_031962	NA	Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.426C>A	17.37:g.39389179C>A		NA		37	CCDS11385.1																																																																																			KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257290.1		+	ENST00000411528.2	Silent	SNP	17 : 39389179 - 39389179 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	1172	7
LILRA2	11027	broad.mit.edu	37	19	55086976	55086976	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr19:55086976C>T	ENST00000391737.1	+	4	911	c.873C>T	c.(871-873)tcC>tcT	p.S291S	LILRA2_ENST00000251376.3_Silent_p.S303S|LILRA2_ENST00000251377.3_Silent_p.S303S|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.S303S|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	NA								p.S303S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		ACCTCTCCTCCGAGTGGTCGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	kidney(1)											45	49	47			NA	NA	19		NA											NA				55086976		2203	4299	6502	SO:0001819	synonymous_variant			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998	NA	11027		Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6603	protein-coding gene	gene with protein product		604812			NA	9079806, 9548455	Standard		XM_005258452	NA	Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000391737.1:c.873C>T	19.37:g.55086976C>T		NA		37																																																																																				LILRA2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000140814.1		+	ENST00000391737.1	Silent	SNP	19 : 55086976 - 55086976 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	519	6
LINGO2	158038	broad.mit.edu	37	9	27949236	27949236	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:27949236G>A	ENST00000379992.2	-	6	1883	c.1434C>T	c.(1432-1434)agC>agT	p.S478S	LINGO2_ENST00000308675.3_Silent_p.S478S	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	478	Ig-like C2-type.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CATACATCCCGCTGTCTTGAT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	84	86			NA	NA	9		NA											NA				27949236		2203	4300	6503	SO:0001819	synonymous_variant			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482	158038	158038		Immunoglobulin superfamily / I-set domain containing	21207	protein-coding gene	gene with protein product		609793	leucine rich repeat neuronal 6C	LRRN6C	NA	14686891	Standard	NM_152570	NM_152570	NA	Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1434C>T	9.37:g.27949236G>A		NA	A8K4K7|B2RPM5|Q6ZMD0	37	CCDS6524.1																																																																																			LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051978.2		-	ENST00000379992.2	Silent	SNP	9 : 27949236 - 27949236 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	342	5
LRP1B	53353	broad.mit.edu	37	2	141457900	141457900	+	Nonsense_Mutation	SNP	G	G	A	rs111904937		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:141457900G>A	ENST00000389484.3	-	41	7689	c.6718C>T	c.(6718-6720)Cga>Tga	p.R2240*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2240					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAAAAGATTCGGTTGGTACCT	0.338		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													123	127	125			NA	NA	2		NA											NA				141457900		2203	4299	6502	SO:0001587	stop_gained			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6718C>T	2.37:g.141457900G>A	ENSP00000374135:p.Arg2240*	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	53	20.963690	0.99936	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	4.47	4.47	0.54385	.	0.000000	0.64402	U	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3686	0.60701	0.0:0.0:0.8416:0.1584	.	.	.	.	X	2240;2178	.	ENSP00000374135:R2240X	R	-	1	2	LRP1B	141174370	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.608000	0.46308	2.176000	0.68965	0.585000	0.79938	CGA	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Nonsense_Mutation	SNP	2 : 141457900 - 141457900 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	771	186
MMRN1	22915	broad.mit.edu	37	4	90872776	90872776	+	Silent	SNP	C	C	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr4:90872776C>A	ENST00000508372.1	+	7	2649	c.2365C>A	c.(2365-2367)Cgg>Agg	p.R789R	MMRN1_ENST00000264790.2_Silent_p.R1047R|MMRN1_ENST00000394980.1_Silent_p.R1047R|MMRN1_ENST00000394981.1_Silent_p.R350R			Q13201	MMRN1_HUMAN	multimerin 1	1047					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AAGCTGTAGTCGGCATCCGTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	85	74	78		3139	0.9	0	4		78	0,8600		0,0,4300	no	coding-synonymous	MMRN1	NM_007351.2		0,1,6502	AA,AC,CC	NA	0.0,0.0227,0.0077		1047/1229	90872776	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722	22915	22915		EMI domain containing	7178	protein-coding gene	gene with protein product	glycoprotein Ia*	601456	multimerin	MMRN	NA	7629143, 10828608	Standard	NM_007351	NM_007351	NA	Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000508372.1:c.2365C>A	4.37:g.90872776C>A		NA	Q4W5L1|Q6P3T8|Q6ZUL9	37																																																																																				MMRN1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364071.1		+	ENST00000508372.1	Silent	SNP	4 : 90872776 - 90872776 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	308	8
MMS19	64210	broad.mit.edu	37	10	99219804	99219804	+	Splice_Site	DEL	T	T	-			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr10:99219804delT	ENST00000438925.2	-	26	2990	c.2655delA	c.(2653-2655)caa>ca	p.Q885fs	MMS19_ENST00000327277.7_3'UTR|MMS19_ENST00000327238.10_Splice_Site_p.Q787fs|MMS19_ENST00000370782.2_Splice_Site_p.Q885fs|MMS19_ENST00000355839.6_Splice_Site_p.Q842fs	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	885					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		ACTCCTCACCTTGGGGAGCAG	0.522		NA						Direct reversal of damage						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	84	85			NA	NA	10		NA											NA				99219804		2203	4300	6503	SO:0001630	splice_region_variant			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229	64210	64210			13824	protein-coding gene	gene with protein product	MET18 homolog (S. cerevisiae)	614777		MMS19L	NA	11071939	Standard		NM_022362	NA	Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.2656+1A>-	10.37:g.99219804delT		NA	B0QZ75|D3DR55|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	37	CCDS7464.1																																																																																			MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049706.2	Frame_Shift_Del	-	ENST00000438925.2	Splice_Site	DEL	10 : 99219804 - 99219804 - PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	463	144
NAALADL2	254827	broad.mit.edu	37	3	174815006	174815006	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr3:174815006C>A	ENST00000454872.1	+	2	598	c.470C>A	c.(469-471)tCa>tAa	p.S157*	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	157					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GCTCCATCTTCAGGAACAGTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	97	97			NA	NA	3		NA											NA				174815006		1835	4090	5925	SO:0001587	stop_gained				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694	254827	254827			23219	protein-coding gene	gene with protein product	glutamate carboxypeptidase II-type non-peptidase homologue	608806			NA	15168106	Standard	NM_207015	NM_207015	NA	Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.470C>A	3.37:g.174815006C>A	ENSP00000404705:p.Ser157*	NA	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	37	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573879	0.86542	.	.	ENSG00000177694	ENST00000454872	.	.	.	5.63	5.63	0.86233	.	0.321256	0.22752	N	0.056073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.1618	16.3124	0.82883	0.1327:0.8672:0.0:0.0	.	.	.	.	X	157	.	.	S	+	2	0	NAALADL2	176297700	1.000000	0.71417	0.857000	0.33713	0.752000	0.42762	3.818000	0.55678	2.803000	0.96430	0.585000	0.79938	TCA	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347390.2		+	ENST00000454872.1	Nonsense_Mutation	SNP	3 : 174815006 - 174815006 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	634	8
NBPF20	100288142	broad.mit.edu	37	1	148346684	148346684	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:148346684G>A	ENST00000369202.1	-	2	270	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF20_ENST00000414710.2_Missense_Mutation_p.R25C					neuroblastoma breakpoint family, member 20	NA								p.R25C(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						AACTGGGGGCGCAATTTCTCG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											49	57	54			NA	NA	1		NA											NA				148346684		2125	4271	6396	SO:0001583	missense				CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832		100288142	100288142		neuroblastoma breakpoint family	32000	protein-coding gene	gene with protein product		614007			NA	16079250	Standard		NM_001278267	NA	Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.73C>T	1.37:g.148346684G>A	ENSP00000358203:p.Arg25Cys	NA		37		.	.	.	.	.	.	.	.	.	.	.	5.006	0.186830	0.09547	.	.	ENSG00000203832	ENST00000369202;ENST00000369188;ENST00000414710	T;T;T	0.04917	3.85;3.91;3.53	0.521	0.521	0.17046	.	.	.	.	.	T	0.05044	0.0135	.	.	.	0.23751	N	0.996944	D;B	0.56521	0.976;0.024	P;B	0.52066	0.689;0.012	T	0.34925	-0.9809	6	0.48119	T	0.1	.	.	.	.	.	25;25	Q6P3W6;F5H1Q5	NBPFA_HUMAN;.	C	25	ENSP00000358203:R25C;ENSP00000358189:R25C;ENSP00000389520:R25C	ENSP00000358189:R25C	R	-	1	0	NBPF20	146713308	0.005000	0.15991	0.001000	0.08648	0.003000	0.03518	1.201000	0.32259	0.529000	0.28599	0.184000	0.17185	CGC	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000100689.2		-	ENST00000369202.1	Missense_Mutation	SNP	1 : 148346684 - 148346684 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	1339	7
NRXN3	9369	broad.mit.edu	37	14	80328016	80328016	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr14:80328016G>A	ENST00000281127.7	+	6	1887	c.1008G>A	c.(1006-1008)acG>acA	p.T336T	NRXN3_ENST00000554719.1_Silent_p.T965T|NRXN3_ENST00000428277.2_Silent_p.T363T|NRXN3_ENST00000557594.1_Silent_p.T541T|NRXN3_ENST00000335750.5_Silent_p.T965T|NRXN3_ENST00000556003.1_3'UTR	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	541					angiogenesis|cell adhesion	integral to membrane		p.T965T(1)|p.T363T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CAAACCCCACGGAGCCGGGAA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	skin(2)											35	39	38			NA	NA	14		NA											NA				80328016		2203	4300	6503	SO:0001819	synonymous_variant			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645	9369	9369			8010	protein-coding gene	gene with protein product		600567	chromosome 14 open reading frame 60	C14orf60	NA	11944992, 12379233	Standard	NM_001105250	NM_004796	NA	Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000281127.7:c.1008G>A	14.37:g.80328016G>A		NA	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	37	CCDS9871.1																																																																																			NRXN3-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413791.1		+	ENST00000281127.7	Silent	SNP	14 : 80328016 - 80328016 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	418	50
OR10G7	390265	broad.mit.edu	37	11	123908881	123908881	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr11:123908881G>A	ENST00000330487.5	-	1	836	c.828C>T	c.(826-828)acC>acT	p.T276T		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAGTCAGCGTGGTGTAGAAAA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	95	98			NA	NA	11		NA											NA				123908881		2200	4299	6499	SO:0001819	synonymous_variant			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634	390265	390265		GPCR / Class A : Olfactory receptors	14842	protein-coding gene	gene with protein product					NA		Standard	NM_001004463	NM_001004463	NA	Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.828C>T	11.37:g.123908881G>A		NA	Q6IFE8	37	CCDS31705.1																																																																																			OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387271.1		-	ENST00000330487.5	Silent	SNP	11 : 123908881 - 123908881 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	452	8
PCDH9	5101	broad.mit.edu	37	13	66879140	66879140	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr13:66879140C>A	ENST00000456367.1	-	4	3945	c.3259G>T	c.(3259-3261)Gga>Tga	p.G1087*	PCDH9_ENST00000377865.2_Nonsense_Mutation_p.G1121*|PCDH9_ENST00000544246.1_Nonsense_Mutation_p.G1121*|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Nonsense_Mutation_p.G1087*	NM_020403.4	NP_065136.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1121					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCAGCTAATCCTCGGGGACCC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	43	44			NA	NA	13		NA											NA				66879140		2203	4300	6503	SO:0001587	stop_gained			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226	5101	5101		Cadherins / Protocadherins : Non-clustered	8661	protein-coding gene	gene with protein product		603581			NA	9787079	Standard	NM_203487	NM_020403	NA	Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000456367.1:c.3259G>T	13.37:g.66879140C>A	ENSP00000401699:p.Gly1087*	NA	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	37	CCDS9443.1	.	.	.	.	.	.	.	.	.	.	C	41	8.954328	0.99016	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	.	.	.	6.07	6.07	0.98685	.	0.000000	0.48286	D	0.000197	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	1121;1121;1087;1087	.	ENSP00000332060:G1087X	G	-	1	0	PCDH9	65777141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.463000	0.80869	2.890000	0.99128	0.650000	0.86243	GGA	PCDH9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045214.2		-	ENST00000456367.1	Nonsense_Mutation	SNP	13 : 66879140 - 66879140 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	257	49
PCDHA7	56141	broad.mit.edu	37	5	140215668	140215668	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:140215668C>T	ENST00000525929.1	+	1	1700	c.1700C>T	c.(1699-1701)gCg>gTg	p.A567V	PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A567V|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1			protocadherin alpha 7	NA										NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTGCTGGCGCCTCGGGTG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(160;258 2013 5070 22440 28951)							NA				0													83	90	88			NA	NA	5		NA											NA				140215668		2203	4298	6501	SO:0001583	missense			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963	56141	56141		Cadherins / Protocadherins : Clustered	8673	other	complex locus constituent	KIAA0345-like 7, ortholog to mouse CNR4	606313		CNRS4	NA	10380929, 10662547	Standard	NM_018910	NM_018910	NA	Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1700C>T	5.37:g.140215668C>T	ENSP00000436426:p.Ala567Val	NA		37	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	3.898	-0.022581	0.07634	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.60548	0.18;0.18	3.91	0.785	0.18584	Cadherin-like (1);	0.000000	0.31709	U	0.007186	T	0.34890	0.0913	L	0.29908	0.895	0.22378	N	0.999156	B;B	0.13594	0.008;0.003	B;B	0.19946	0.027;0.001	T	0.11966	-1.0566	10	0.15499	T	0.54	.	2.6958	0.05134	0.1647:0.4751:0.2511:0.109	.	567;567	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	V	567	ENSP00000436426:A567V;ENSP00000367365:A567V	ENSP00000367365:A567V	A	+	2	0	PCDHA7	140195852	0.000000	0.05858	0.021000	0.16686	0.026000	0.11368	-0.334000	0.07883	-0.130000	0.11599	-0.652000	0.03908	GCG	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372887.2		+	ENST00000525929.1	Missense_Mutation	SNP	5 : 140215668 - 140215668 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	1078	7
PCDHGA1	56114	broad.mit.edu	37	5	140712339	140712339	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:140712339G>A	ENST00000517417.1	+	1	2088	c.2088G>A	c.(2086-2088)gcG>gcA	p.A696A	PCDHGA1_ENST00000378105.3_Silent_p.A696A	NM_018912.2	NP_061735.1			protocadherin gamma subfamily A, 1	NA								p.A696A(4)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTGGCGGCGGCCGCGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				4	Substitution - coding silent(4)	lung(4)											74	85	81			NA	NA	5		NA											NA				140712339		2203	4297	6500	SO:0001819	synonymous_variant			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956	56114	56114		Cadherins / Protocadherins : Clustered	8696	other	protocadherin		606288			NA	10380929	Standard	NM_018912	NM_018912	NA	Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2088G>A	5.37:g.140712339G>A		NA		37	CCDS54922.1																																																																																			PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374737.1		+	ENST00000517417.1	Silent	SNP	5 : 140712339 - 140712339 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	1373	181
PCDHGA9	56107	broad.mit.edu	37	5	140783647	140783647	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:140783647C>T	ENST00000573521.1	+	1	1128	c.1128C>T	c.(1126-1128)tcC>tcT	p.S376S	PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			protocadherin gamma subfamily A, 9	NA										endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGAGACTCCGGGAAGAATG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	,,,,,,,,,,,,,,	0,3880		0,0,1940	41	42	41		,,,,,,,,1128,,,,,,1128	-10.3	0.6	5		41	1,8289		0,1,4144	no	intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,coding-synonymous	PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_032088.1,NM_032089.1	,,,,,,,,,,,,,,	0,1,6084	TT,TC,CC	NA	0.0121,0.0,0.0082	,,,,,,,,,,,,,,	,,,,,,,,376/933,,,,,,376/829	140783647	1,12169	1940	4145	6085	SO:0001819	synonymous_variant			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26					56107	56107		Cadherins / Protocadherins : Clustered	8707	other	protocadherin		606296			NA	10380929	Standard	NM_018921	NM_018921	NA	Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1128C>T	5.37:g.140783647C>T		NA		37	CCDS58981.1																																																																																			PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437105.1		+	ENST00000573521.1	Silent	SNP	5 : 140783647 - 140783647 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	343	104
PCMTD1	115294	broad.mit.edu	37	8	52732960	52732960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr8:52732960G>A	ENST00000360540.5	-	7	1431	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	PCMTD1_ENST00000522514.1_Missense_Mutation_p.P342L|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.P266L	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	342						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.P342L(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TTCAGGGAGGGGCAGCTTCAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	prostate(1)|skin(1)											70	68	69			NA	NA	8		NA											NA				52732960		2203	4300	6503	SO:0001583	missense				CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300	115294	115294			30483	protein-coding gene	gene with protein product					NA		Standard	NM_052937	XM_005251146	NA	Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.1025C>T	8.37:g.52732960G>A	ENSP00000353739:p.Pro342Leu	NA	Q96FK9	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679697	0.88542	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.71461	0.24;-0.57;0.24	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.84835	0.5560	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.999	P;D;D	0.91635	0.769;0.999;0.981	D	0.84761	0.0762	10	0.87932	D	0	-0.0352	20.6593	0.99626	0.0:0.0:1.0:0.0	.	212;266;342	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	L	342;266;342	ENSP00000353739:P342L;ENSP00000444026:P266L;ENSP00000428099:P342L	ENSP00000353739:P342L	P	-	2	0	PCMTD1	52895513	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.903000	0.92573	2.885000	0.99019	0.655000	0.94253	CCC	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377909.2		-	ENST00000360540.5	Missense_Mutation	SNP	8 : 52732960 - 52732960 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	533	8
PDGFRB	5159	broad.mit.edu	37	5	149499063	149499063	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:149499063C>T	ENST00000261799.4	-	20	3234	c.2765G>A	c.(2764-2766)cGc>cAc	p.R922H		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	922	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.R922H(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGGCCATGCGGTAACCCCG	0.537		NA	T	ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP	MPD, AML, CMML, CML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q31-q32	5159	platelet-derived growth factor receptor, beta polypeptide		L	1	Substitution - Missense(1)	central_nervous_system(1)											148	135	140			NA	NA	5		NA											NA				149499063		2203	4300	6503	SO:0001583	missense			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721	5159	5159		CD molecules, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	8804	protein-coding gene	gene with protein product		173410		PDGFR	NA		Standard	NM_002609	XM_005268464	NA	Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2765G>A	5.37:g.149499063C>T	ENSP00000261799:p.Arg922His	NA	Q8N5L4	37	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	35	5.463789	0.96257	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.85411	-1.98	5.54	4.61	0.57282	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000040	D	0.89656	0.6778	L	0.46567	1.45	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90545	0.4505	10	0.87932	D	0	.	15.846	0.78890	0.0:0.8643:0.1357:0.0	.	922;922	A8KAM8;P09619	.;PGFRB_HUMAN	H	922;592	ENSP00000261799:R922H	ENSP00000261799:R922H	R	-	2	0	PDGFRB	149479256	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.898000	0.63238	2.606000	0.88127	0.655000	0.94253	CGC	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252332.1		-	ENST00000261799.4	Missense_Mutation	SNP	5 : 149499063 - 149499063 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	889	7
PIK3C2A	5286	broad.mit.edu	37	11	17172170	17172170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr11:17172170C>T	ENST00000265970.7	-	3	1201	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R21H	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	401					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.R401H(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TGGGTTTGTGCGGTGATTGGT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											170	152	158			NA	NA	11		NA											NA				17172170		2200	4293	6493	SO:0001583	missense			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	5286	5286	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	phosphoinositide-3-kinase, class 2, alpha polypeptide		NA	9337861	Standard	NM_002645	NM_002645	NA	Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1202G>A	11.37:g.17172170C>T	ENSP00000265970:p.Arg401His	NA	B0LPH2|Q14CQ9	37	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	1.240	-0.621565	0.03636	.	.	ENSG00000011405	ENST00000265970;ENST00000540361;ENST00000544896	T;T	0.42513	0.97;0.97	5.94	-2.21	0.06973	.	0.920435	0.09561	N	0.785613	T	0.15478	0.0373	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.25293	-1.0136	10	0.20519	T	0.43	8.3831	4.7189	0.12909	0.2829:0.1989:0.0:0.5182	.	401;401	F5H5W9;O00443	.;P3C2A_HUMAN	H	401;21;401	ENSP00000265970:R401H;ENSP00000438687:R21H	ENSP00000265970:R401H	R	-	2	0	PIK3C2A	17128746	0.000000	0.05858	0.059000	0.19551	0.148000	0.21650	0.401000	0.20948	-0.065000	0.13021	-1.119000	0.02030	CGC	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387553.1		-	ENST00000265970.7	Missense_Mutation	SNP	11 : 17172170 - 17172170 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	811	6
PPP1R3A	5506	broad.mit.edu	37	7	113518727	113518727	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr7:113518727A>C	ENST00000284601.3	-	4	2488	c.2420T>G	c.(2419-2421)tTa>tGa	p.L807*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	807					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACAAATACCTAAACGTGATTC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	102	108			NA	NA	7		NA											NA				113518727		2203	4300	6503	SO:0001587	stop_gained			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	5506	5506	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	9291	protein-coding gene	gene with protein product	glycogen-associated regulatory subunit of protein phosphatase-1, protein phosphatase 1 regulatory subunit GM	600917	protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle), protein phosphatase 1, regulatory (inhibitor) subunit 3A	PPP1R3	NA	7926294	Standard	NM_002711	NM_002711	NA	Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2420T>G	7.37:g.113518727A>C	ENSP00000284601:p.Leu807*	NA	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	A	34	5.312369	0.95655	.	.	ENSG00000154415	ENST00000284601	.	.	.	5.92	2.29	0.28610	.	0.536654	0.17154	N	0.184937	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2057	9.3856	0.38340	0.7344:0.0:0.2656:0.0	.	.	.	.	X	807	.	ENSP00000284601:L807X	L	-	2	0	PPP1R3A	113305963	1.000000	0.71417	0.285000	0.24819	0.850000	0.48378	1.634000	0.37123	0.154000	0.19237	-0.297000	0.09499	TTA	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346724.1		-	ENST00000284601.3	Nonsense_Mutation	SNP	7 : 113518727 - 113518727 C PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	549	142
PSMB4	5692	broad.mit.edu	37	1	151372491	151372491	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:151372491G>A	ENST00000290541.6	+	2	229	c.175G>A	c.(175-177)Gtt>Att	p.V59I		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	59					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGTCCTCGGCGTTAAGTTCGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	97	97			NA	NA	1		NA											NA				151372491		2203	4300	6503	SO:0001583	missense			D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377	5692	5692		Proteasome (prosome, macropain) subunits	9541	protein-coding gene	gene with protein product		602177			NA	7918633	Standard	NM_002796	NM_002796	NA	Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.175G>A	1.37:g.151372491G>A	ENSP00000290541:p.Val59Ile	NA	B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	37	CCDS996.1	.	.	.	.	.	.	.	.	.	.	G	9.747	1.166446	0.21621	.	.	ENSG00000159377	ENST00000290541	T	0.28255	1.62	5.34	4.42	0.53409	Proteasome, beta-type subunit, conserved site (1);	0.057731	0.64402	D	0.000001	T	0.04543	0.0124	N	0.03903	-0.33	0.58432	D	0.999996	B;B	0.09022	0.001;0.002	B;B	0.17098	0.012;0.017	T	0.26815	-1.0092	10	0.02654	T	1	-15.3311	14.7134	0.69249	0.0:0.146:0.854:0.0	.	59;59	B4DFL3;P28070	.;PSB4_HUMAN	I	59	ENSP00000290541:V59I	ENSP00000290541:V59I	V	+	1	0	PSMB4	149639115	1.000000	0.71417	0.712000	0.30502	0.997000	0.91878	4.476000	0.60216	1.232000	0.43678	0.561000	0.74099	GTT	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034885.1		+	ENST00000290541.6	Missense_Mutation	SNP	1 : 151372491 - 151372491 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	812	7
RGPD8	727851	broad.mit.edu	37	2	113147089	113147089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:113147089G>A	ENST00000409750.1	-	19	3592	c.3013C>T	c.(3013-3015)Cgg>Tgg	p.R1005W	RGPD8_ENST00000302558.3_Missense_Mutation_p.R1145W					RANBP2-like and GRIP domain containing 8	NA										endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GCTGCCAACCGCTCTAGTTTG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	16	17			NA	NA	2		NA											NA				113147089		691	1578	2269	SO:0001583	missense			AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629	727851	727851		Tetratricopeptide (TTC) repeat domain containing	9849	protein-coding gene	gene with protein product		602752	RAN binding protein 2-like 1	RANBP2L1	NA	9480752	Standard	XM_001722279	NM_001164463	NA	Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000409750.1:c.3013C>T	2.37:g.113147089G>A	ENSP00000386511:p.Arg1005Trp	NA		37		.	.	.	.	.	.	.	.	.	.	-	11.66	1.704460	0.30232	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.44482	0.92;0.92	2.3	2.3	0.28687	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.45196	0.1330	L	0.38175	1.15	0.80722	D	1	D	0.71674	0.998	P	0.56916	0.809	T	0.47129	-0.9141	9	0.87932	D	0	-3.8912	10.3508	0.43934	0.0:0.0:1.0:0.0	.	1145	O14715	RGPD8_HUMAN	W	1145;1005	ENSP00000306637:R1145W;ENSP00000386511:R1005W	ENSP00000306637:R1145W	R	-	1	2	RGPD8	112863560	1.000000	0.71417	0.977000	0.42913	0.424000	0.31475	9.529000	0.98049	1.299000	0.44798	0.152000	0.16155	CGG	RGPD8-001	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000330561.2		-	ENST00000409750.1	Missense_Mutation	SNP	2 : 113147089 - 113147089 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	2142	242
RNF43	54894	broad.mit.edu	37	17	56437563	56437563	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:56437563T>C	ENST00000584437.1	-	7	2854	c.899A>G	c.(898-900)gAc>gGc	p.D300G	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Missense_Mutation_p.D173G|RNF43_ENST00000577716.1_Missense_Mutation_p.D300G|RNF43_ENST00000500597.2_Missense_Mutation_p.D259G|RNF43_ENST00000407977.2_Missense_Mutation_p.D300G|RNF43_ENST00000581868.1_Missense_Mutation_p.D173G|RNF43_ENST00000583753.1_Missense_Mutation_p.D259G			Q68DV7	RNF43_HUMAN	ring finger protein 43	300						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAACCAGGGGTCCACACAGTT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	116	125			NA	NA	17		NA											NA				56437563		2203	4300	6503	SO:0001583	missense				CCDS11607.1	17q23.2	2013-01-09					54894	54894		RING-type (C3HC4) zinc fingers	18505	protein-coding gene	gene with protein product		612482			NA		Standard	NM_017763	NM_017763	NA	Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.899A>G	17.37:g.56437563T>C	ENSP00000463069:p.Asp300Gly	NA	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.038923	0.93630	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.61274	0.12;0.12	5.09	5.09	0.68999	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.110516	0.64402	D	0.000014	T	0.73900	0.3646	M	0.77103	2.36	0.58432	D	0.999998	P;D;D	0.60575	0.913;0.988;0.982	P;P;P	0.62740	0.767;0.906;0.762	T	0.78319	-0.2250	10	0.87932	D	0	-12.8846	14.0453	0.64702	0.0:0.0:0.0:1.0	.	259;300;300	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	G	300;259	ENSP00000385328:D300G;ENSP00000441969:D259G	ENSP00000385328:D300G	D	-	2	0	RNF43	53792562	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.649000	0.83500	1.925000	0.55765	0.454000	0.30748	GAC	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444713.1		-	ENST00000584437.1	Missense_Mutation	SNP	17 : 56437563 - 56437563 C PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	392	168
SCN1A	6323	broad.mit.edu	37	2	166911147	166911147	+	Splice_Site	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:166911147C>T	ENST00000409050.1	-	4	602		c.e4+1		AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Splice_Site|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Splice_Site|SCN1A_ENST00000375405.3_Splice_Site			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	NA						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAGGCACTTACGCAAATGTAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CS032427	SCN1A	S							61	63	63			NA	NA	2		NA											NA				166911147		2203	4299	6502	SO:0001630	splice_region_variant			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285	6323	6323		Sodium channels, Voltage-gated ion channels / Sodium channels	10585	protein-coding gene	gene with protein product		182389	febrile convulsions 3	SCN1, FEB3	NA	8062593, 16382098, 11823106	Standard	NM_006920	NM_006920	NA	Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000409050.1:c.602+1G>A	2.37:g.166911147C>T		NA	Q16172|Q585T7|Q96LA3|Q9C008	37	CCDS54414.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844927	0.91197	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1745	0.93599	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN1A	166619393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.726000	0.84824	2.597000	0.87782	0.561000	0.74099	.	SCN1A-003	NOVEL	non_canonical_U12|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333750.1	Intron	-	ENST00000409050.1	Splice_Site	SNP	2 : 166911147 - 166911147 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	363	79
SCN5A	6331	broad.mit.edu	37	3	38627422	38627422	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr3:38627422G>A	ENST00000455624.2	-	15	2571	c.2547C>T	c.(2545-2547)atC>atT	p.I849I	SCN5A_ENST00000333535.4_Silent_p.I849I|SCN5A_ENST00000413689.1_Silent_p.I849I|SCN5A_ENST00000443581.1_Silent_p.I849I|SCN5A_ENST00000414099.2_Silent_p.I849I|SCN5A_ENST00000451551.2_Silent_p.I849I|SCN5A_ENST00000423572.2_Silent_p.I849I|SCN5A_ENST00000425664.1_Silent_p.I849I|SCN5A_ENST00000449557.2_Silent_p.I849I|SCN5A_ENST00000450102.2_Silent_p.I849I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	849					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGATGAACACGATGATGGCTA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	147	150			NA	NA	3		NA											NA				38627422		2203	4300	6503	SO:0001819	synonymous_variant			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873	6331	6331		Sodium channels, Voltage-gated ion channels / Sodium channels	10593	protein-coding gene	gene with protein product	long QT syndrome 3	600163	sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	CMD1E	NA	7842012, 15466643, 16382098	Standard	NM_198056	NM_198056	NA	Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000455624.2:c.2547C>T	3.37:g.38627422G>A		NA	A5H1P8|A6N922|A6N923|B2RTU0|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	37	CCDS54570.1																																																																																			SCN5A-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343215.2		-	ENST00000455624.2	Silent	SNP	3 : 38627422 - 38627422 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	572	65
SERINC2	347735	broad.mit.edu	37	1	31899619	31899619	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:31899619C>T	ENST00000373710.1	+	7	1029	c.756C>T	c.(754-756)aaC>aaT	p.N252N	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_Silent_p.N247N|SERINC2_ENST00000373709.3_Silent_p.N243N|SERINC2_ENST00000536384.1_Silent_p.N247N	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	243						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TCAGCCTCAACCTCACCTTCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													214	191	199			NA	NA	1		NA											NA				31899619		2203	4300	6503	SO:0001819	synonymous_variant			AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528	347735	347735			23231	protein-coding gene	gene with protein product		614549	tumor differentially expressed 2-like	TDE2L	NA	12949800	Standard	NM_018565	NM_178865	NA	Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373710.1:c.756C>T	1.37:g.31899619C>T		NA	A0AVB4|Q86Y23	37	CCDS55583.1																																																																																			SERINC2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010681.1		+	ENST00000373710.1	Silent	SNP	1 : 31899619 - 31899619 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	1439	231
SERPINA7	6906	broad.mit.edu	37	X	105277592	105277592	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chrX:105277592G>A	ENST00000327674.4	-	4	1482	c.1147C>T	c.(1147-1149)Cct>Tct	p.P383S	SERPINA7_ENST00000372563.1_Missense_Mutation_p.P383S			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	383			P -> L (in TBG deficiency; Kumamoto).		regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGATAATAGGGTGTAGGAAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													225	224	224			NA	NA	X		NA											NA				105277592		2203	4300	6503	SO:0001583	missense			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561	6906	6906		Serine (or cysteine) peptidase inhibitors	11583	protein-coding gene	gene with protein product	thyroxin-binding globulin, thyroxine-binding globulin, alpha-1 antiproteinase, antitrypsin	314200	serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	TBG	NA	24172014	Standard	NM_000354	NM_000354	NA	Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.1147C>T	X.37:g.105277592G>A	ENSP00000329374:p.Pro383Ser	NA	D3DUX1	37	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246856	0.22796	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.84370	-1.84;-1.84	4.9	-3.02	0.05446	Serpin domain (3);	0.262727	0.32444	N	0.006089	T	0.75686	0.3883	L	0.48174	1.505	0.09310	N	1	P	0.41188	0.741	B	0.41619	0.361	T	0.68168	-0.5480	10	0.42905	T	0.14	.	5.562	0.17150	0.3419:0.3906:0.2675:0.0	.	383	P05543	THBG_HUMAN	S	383	ENSP00000329374:P383S;ENSP00000361644:P383S	ENSP00000329374:P383S	P	-	1	0	SERPINA7	105164248	0.910000	0.30920	0.000000	0.03702	0.039000	0.13416	3.651000	0.54431	-0.590000	0.05866	0.594000	0.82650	CCT	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057790.1		-	ENST00000327674.4	Missense_Mutation	SNP	X : 105277592 - 105277592 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	681	614
SORCS1	114815	broad.mit.edu	37	10	108923788	108923788	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr10:108923788G>A	ENST00000263054.6	-	1	504	c.497C>T	c.(496-498)gCg>gTg	p.A166V	SORCS1_ENST00000344440.6_Missense_Mutation_p.A166V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	166						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCCGTCAGCGCAAACGTGGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	73	76			NA	NA	10		NA											NA				108923788		2203	4300	6503	SO:0001583	missense			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018	114815	114815			16697	protein-coding gene	gene with protein product		606283			NA	11499680	Standard	NM_052918	NM_001206570	NA	Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.497C>T	10.37:g.108923788G>A	ENSP00000263054:p.Ala166Val	NA	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794235	0.31777	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.33654	1.4;1.4	5.16	5.16	0.70880	.	0.189340	0.36482	N	0.002569	T	0.31765	0.0807	N	0.11756	0.17	0.37005	D	0.895445	D;D;P;D;P	0.59767	0.977;0.986;0.954;0.977;0.954	B;P;P;P;P	0.51170	0.341;0.661;0.455;0.46;0.455	T	0.18555	-1.0333	9	.	.	.	-10.9687	17.3761	0.87392	0.0:0.0:1.0:0.0	.	166;166;166;166;166	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	V	166	ENSP00000263054:A166V;ENSP00000345964:A166V	.	A	-	2	0	SORCS1	108913778	1.000000	0.71417	0.984000	0.44739	0.457000	0.32468	4.741000	0.62095	2.666000	0.90696	0.655000	0.94253	GCG	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050232.4		-	ENST00000263054.6	Missense_Mutation	SNP	10 : 108923788 - 108923788 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	382	5
SPATA31D1	389763	broad.mit.edu	37	9	84609178	84609178	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:84609178C>T	ENST00000344803.2	+	4	3840	c.3793C>T	c.(3793-3795)Cgt>Tgt	p.R1265C		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1	NA								p.R1265S(4)			NA						CAGCGGAATCCGTGTGGCACA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				4	Substitution - Missense(4)	lung(4)											111	109	110			NA	NA	9		NA											NA				84609178		2012	4180	6192	SO:0001583	missense				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929	389763	389763			37283	protein-coding gene	gene with protein product			family with sequence similarity 75, member D1	FAM75D1	NA		Standard	NM_001001670	NM_001001670	NA	Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3793C>T	9.37:g.84609178C>T	ENSP00000341988:p.Arg1265Cys	NA		37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	7.678	0.688393	0.14973	.	.	ENSG00000214929	ENST00000344803	T	0.06849	3.25	3.26	2.12	0.27331	.	.	.	.	.	T	0.05914	0.0154	N	0.14661	0.345	0.09310	N	1	D	0.62365	0.991	P	0.45881	0.496	T	0.36383	-0.9750	9	0.38643	T	0.18	0.0316	6.5373	0.22361	0.7291:0.2709:0.0:0.0	.	1265	Q6ZQQ2	F75D1_HUMAN	C	1265	ENSP00000341988:R1265C	ENSP00000341988:R1265C	R	+	1	0	FAM75D1	83798998	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.273000	0.08548	0.642000	0.30620	-0.262000	0.10625	CGT	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402325.1		+	ENST00000344803.2	Missense_Mutation	SNP	9 : 84609178 - 84609178 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	902	94
SPNS3	201305	broad.mit.edu	37	17	4348390	4348390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:4348390G>A	ENST00000355530.2	+	3	609	c.329G>A	c.(328-330)cGc>cAc	p.R110H	SPNS3_ENST00000576069.1_Intron|SPNS3_ENST00000333476.2_Intron	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	110					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CGACATAGCCGCAAGGCTACC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													184	147	160			NA	NA	17		NA											NA				4348390		2203	4300	6503	SO:0001583	missense				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557	201305	201305			28433	protein-coding gene	gene with protein product		611701			NA		Standard	NM_182538	NM_182538	NA	Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.329G>A	17.37:g.4348390G>A	ENSP00000347721:p.Arg110His	NA	Q8IZ31	37	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522058	0.64747	.	.	ENSG00000182557	ENST00000355530	T	0.67345	-0.26	4.51	4.51	0.55191	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.85427	0.5694	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89136	0.3513	10	0.87932	D	0	-27.825	15.5243	0.75890	0.0:0.0:1.0:0.0	.	110	Q6ZMD2	SPNS3_HUMAN	H	110	ENSP00000347721:R110H	ENSP00000347721:R110H	R	+	2	0	SPNS3	4295139	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	9.349000	0.97066	2.446000	0.82766	0.561000	0.74099	CGC	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438793.1		+	ENST00000355530.2	Missense_Mutation	SNP	17 : 4348390 - 4348390 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	765	7
TNFSF12	8742	broad.mit.edu	37	17	7460597	7460597	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:7460597G>A	ENST00000293825.6	+	7	943	c.680G>A	c.(679-681)cGc>cAc	p.R227H	TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF12_ENST00000557233.1_Intron|TNFSF12_ENST00000462811.1_3'UTR	NM_003809.2	NP_003800.1			tumor necrosis factor (ligand) superfamily, member 12	NA										central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				CTGCGGATCCGCACCCTCCCC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	42	43			NA	NA	17		NA											NA				7460597		2203	4298	6501	SO:0001583	missense			AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697	8742	8742		Tumor necrosis factor (ligand) superfamily	11927	protein-coding gene	gene with protein product		602695			NA	9405449, 9560343	Standard	NM_003809	NM_003809	NA	Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.680G>A	17.37:g.7460597G>A	ENSP00000293825:p.Arg227His	NA		37	CCDS11109.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203583	0.79127	.	.	ENSG00000239697	ENST00000293825	D	0.94417	-3.42	4.76	2.58	0.30949	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	.	.	.	.	D	0.94679	0.8284	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93286	0.6664	9	0.41790	T	0.15	.	12.3257	0.55009	0.0:0.0:0.695:0.305	.	227	O43508	TNF12_HUMAN	H	227	ENSP00000293825:R227H	ENSP00000293825:R227H	R	+	2	0	TNFSF12	7401321	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	2.653000	0.46691	1.127000	0.42034	0.561000	0.74099	CGC	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226951.2		+	ENST00000293825.6	Missense_Mutation	SNP	17 : 7460597 - 7460597 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	359	6
TNIP1	10318	broad.mit.edu	37	5	150422486	150422486	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:150422486G>A	ENST00000524280.1	-	9	972	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	TNIP1_ENST00000521591.1_Missense_Mutation_p.R325W|TNIP1_ENST00000520931.1_Missense_Mutation_p.R272W|TNIP1_ENST00000523338.1_Missense_Mutation_p.R325W|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000389378.2_Missense_Mutation_p.R325W|TNIP1_ENST00000518977.1_Missense_Mutation_p.R325W|TNIP1_ENST00000523200.1_Missense_Mutation_p.R325W|TNIP1_ENST00000522226.1_Missense_Mutation_p.R325W|TNIP1_ENST00000315050.7_Missense_Mutation_p.R325W	NM_001258456.1	NP_001245385.1	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	325	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCATGGACCGGAAATGCTGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													283	249	260			NA	NA	5		NA											NA				150422486		2203	4300	6503	SO:0001583	missense			AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18					10318	10318			16903	protein-coding gene	gene with protein product	virion-associated nuclear-shuttling protein, Nef-associated factor 1 SNP	607714			NA	9923610, 11090181	Standard	NM_006058	NM_001252385	NA	Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000524280.1:c.973C>T	5.37:g.150422486G>A	ENSP00000429912:p.Arg325Trp	NA	O76008|Q96EL9|Q99833|Q9H1J3	37	CCDS58983.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337020	0.81801	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840	T;T;T;T;T;T;T;T;T	0.61859	2.23;2.26;2.26;2.26;2.26;2.26;2.26;0.07;2.3	5.47	5.47	0.80525	.	0.106709	0.64402	D	0.000004	T	0.77572	0.4150	M	0.83223	2.63	0.44780	D	0.997788	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0;0.998;0.999	T	0.80797	-0.1222	10	0.87932	D	0	-33.1055	14.6438	0.68745	0.0:0.0:0.8538:0.1461	.	325;279;279;325;325;325;325	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	W	272;325;325;325;282;282;287;325;325;325;325;325;282	ENSP00000429891:R272W;ENSP00000374029:R325W;ENSP00000317891:R325W;ENSP00000428243:R325W;ENSP00000428187:R325W;ENSP00000430760:R325W;ENSP00000430971:R325W;ENSP00000429912:R325W;ENSP00000431105:R325W	ENSP00000317891:R325W	R	-	1	2	TNIP1	150402679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.685000	0.54678	2.561000	0.86390	0.650000	0.86243	CGG	TNIP1-008	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374916.1		-	ENST00000524280.1	Missense_Mutation	SNP	5 : 150422486 - 150422486 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	1756	9
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65	56	59			NA	NA	17		NA											NA				7577121		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.817C>T	17.37:g.7577121G>A	ENSP00000391127:p.Arg273Cys	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577121 - 7577121 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	133	39
UBC	7316	broad.mit.edu	37	12	125396503	125396503	+	Silent	SNP	G	G	A	rs6657		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:125396503G>A	ENST00000538617.1	-	4	991	c.675C>T	c.(673-675)ctC>ctT	p.L225L	UBC_ENST00000339647.5_Silent_p.L605L|UBC_ENST00000546120.1_Silent_p.L529L|UBC_ENST00000536769.1_Silent_p.L605L			P0CG48	UBC_HUMAN	ubiquitin C	605	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.L605L(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCCACCTCTGAGACGGAGCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	prostate(1)											107	67	81			NA	NA	12		NA											NA				125396503		2200	4279	6479	SO:0001819	synonymous_variant				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991	7316	7316			12468	protein-coding gene	gene with protein product	polyubiquitin-C	191340			NA	1315303, 11872750	Standard	NM_021009	NM_021009	NA	Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.675C>T	12.37:g.125396503G>A		NA	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	37																																																																																				UBC-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400179.1		-	ENST00000538617.1	Silent	SNP	12 : 125396503 - 125396503 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	924	8
UNC50	25972	broad.mit.edu	37	2	99226227	99226228	+	Frame_Shift_Ins	INS	-	-	A	rs140953303		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:99226227_99226228insA	ENST00000409975.1	+	1	1186_1187	c.56_57insA	c.(55-60)ttaccgfs	p.P20fs	UNC50_ENST00000357765.2_Frame_Shift_Ins_p.P3fs|UNC50_ENST00000409347.1_Frame_Shift_Ins_p.P20fs			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	3					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						AGGAAGATGTTACCGAGTACTT	0.45		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant				CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446	25972	25972			16046	protein-coding gene	gene with protein product					NA	10980252	Standard	NM_014044	NM_014044	NA	Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000409975.1:c.57dupA	2.37:g.99226228_99226228dupA	ENSP00000387146:p.Pro20fs	NA	D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	37																																																																																				UNC50-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000329560.1		+	ENST00000409975.1	Frame_Shift_Ins	INS	2 : 99226227 - 99226228 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	2293	537
USP20	10868	broad.mit.edu	37	9	132640646	132640646	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:132640646G>A	ENST00000315480.4	+	23	2597	c.2439G>A	c.(2437-2439)tcG>tcA	p.S813S	USP20_ENST00000358355.1_Silent_p.S813S|USP20_ENST00000372429.3_Silent_p.S813S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	813	DUSP 2.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CCGAGGAGTCGCCGGGCGTCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	32	31			NA	NA	9		NA											NA				132640646		2004	4161	6165	SO:0001819	synonymous_variant			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878	NA	10868		Ubiquitin-specific peptidases	12619	protein-coding gene	gene with protein product		615143	ubiquitin specific protease 20		NA	12838346	Standard		NM_006676	NA	Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2439G>A	9.37:g.132640646G>A		NA	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	37	CCDS43892.1																																																																																			USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054604.2		+	ENST00000315480.4	Silent	SNP	9 : 132640646 - 132640646 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	102	24
VWA1	64856	broad.mit.edu	37	1	1374492	1374492	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:1374492G>A	ENST00000476993.1	+	3	741	c.663G>A	c.(661-663)acG>acA	p.T221T	VWA1_ENST00000404702.3_Silent_p.T9T|VWA1_ENST00000338660.5_3'UTR	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	221	Fibronectin type-III 1.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCCATGCCACGGAGATCACGT	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	14	14			NA	NA	1		NA											NA				1374492		2157	4260	6417	SO:0001819	synonymous_variant			BC059409	CCDS27.1, CCDS28.1, CCDS28.2	1p36.33	2013-02-11			ENSG00000179403	ENSG00000179403	64856	64856		Fibronectin type III domain containing	30910	protein-coding gene	gene with protein product		611901			NA	14527666, 12062410	Standard	NM_022834	NM_022834	NA	Approved	FLJ22215, VWA-1, WARP	uc001afs.3	Q6PCB0	OTTHUMG00000002975	ENST00000476993.1:c.663G>A	1.37:g.1374492G>A		NA	A8K692|B3KUA1|Q7L5D7|Q9H6J5	37	CCDS27.1																																																																																			VWA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008291.1		+	ENST00000476993.1	Silent	SNP	1 : 1374492 - 1374492 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	152	14
WNK2	65268	broad.mit.edu	37	9	96080243	96080243	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:96080243G>A	ENST00000297954.4	+	30	6828	c.6828G>A	c.(6826-6828)ccG>ccA	p.P2276P	WNK2_ENST00000395477.2_Intron|WNK2_ENST00000349097.3_Intron|WNK2_ENST00000427277.2_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000395475.2_Intron	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2276					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCACTCAGCCGCGAGGGGGAC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,1752		0,0,876	41	41	41			-7.6	0	9		41	1,3981		0,1,1990	no	intron	WNK2	NM_006648.3		0,1,2866	AA,AG,GG	NA	0.0251,0.0,0.0174			96080243	1,5733	876	1991	2867	SO:0001819	synonymous_variant			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238	65268	65268			14542	protein-coding gene	gene with protein product		606249	serologically defined colon cancer antigen 43	SDCCAG43, PRKWNK2	NA	9610721, 11571656	Standard	NM_006648	NM_006648	NA	Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6828G>A	9.37:g.96080243G>A		NA	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	37																																																																																				WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000317359.1		+	ENST00000297954.4	Silent	SNP	9 : 96080243 - 96080243 A PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	267	75
ZDHHC11	79844	broad.mit.edu	37	5	825360	825360	+	Silent	SNP	T	T	C			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:825360T>C	ENST00000283441.8	-	8	1325	c.942A>G	c.(940-942)aaA>aaG	p.K314K	ZDHHC11_ENST00000424784.2_Silent_p.K314K|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	314						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AGCTCTTGGCTTTGACTCTGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	117	134			NA	NA	5		NA											NA				825360		2203	4296	6499	SO:0001819	synonymous_variant			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818	79844	79844		Zinc fingers, DHHC-type	19158	protein-coding gene	gene with protein product					NA		Standard	NM_024786	NM_024786	NA	Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.942A>G	5.37:g.825360T>C		NA		37	CCDS3857.1																																																																																			ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206681.3		-	ENST00000283441.8	Silent	SNP	5 : 825360 - 825360 C PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	635	6
ZNF493	284443	broad.mit.edu	37	19	21587968	21587968	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr19:21587968C>T	ENST00000339914.6	+	2	150	c.68C>T	c.(67-69)tCt>tTt	p.S23F	ZNF493_ENST00000392288.2_Missense_Mutation_p.S23F|ZNF493_ENST00000355504.4_Intron|CTD-2561J22.3_ENST00000600810.1_Missense_Mutation_p.S3F|ZNF493_ENST00000594390.1_Missense_Mutation_p.S23F|ZNF493_ENST00000596302.1_Missense_Mutation_p.S23F	NM_145326.2	NP_663299.2	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAGAATTCTCTCTGGAGGAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	96	94			NA	NA	19		NA											NA				21587968		2203	4300	6503	SO:0001583	missense			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268	284443	284443		Zinc fingers, C2H2-type, -	23708	protein-coding gene	gene with protein product					NA		Standard	NM_175910	NM_001076678	NA	Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000339914.6:c.68C>T	19.37:g.21587968C>T	ENSP00000340651:p.Ser23Phe	NA	Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965	37	CCDS12411.1	.	.	.	.	.	.	.	.	.	.	N	9.873	1.199382	0.22121	.	.	ENSG00000196268	ENST00000392288;ENST00000339914	T;T	0.02944	4.1;4.1	1.14	1.14	0.20703	.	.	.	.	.	T	0.20861	0.0502	H	0.98178	4.165	0.23421	N	0.997719	D;D	0.89917	0.984;1.0	D;D	0.71184	0.919;0.972	T	0.05178	-1.0901	9	0.87932	D	0	.	5.6173	0.17438	0.0:1.0:0.0:0.0	.	23;23	Q6ZR52-2;G5E974	.;.	F	23	ENSP00000376110:S23F;ENSP00000340651:S23F	ENSP00000340651:S23F	S	+	2	0	ZNF493	21379808	0.072000	0.21174	0.882000	0.34594	0.222000	0.24845	0.816000	0.27267	0.914000	0.36822	0.411000	0.27672	TCT	ZNF493-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280561.1		+	ENST00000339914.6	Missense_Mutation	SNP	19 : 21587968 - 21587968 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	888	14
ZNRF4	148066	broad.mit.edu	37	19	5456673	5456673	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr19:5456673C>T	ENST00000222033.4	+	1	1248	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	391						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		AGTCCAGCTACGCTCCCGGAG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	36	34			NA	NA	19		NA											NA				5456673		1986	4158	6144	SO:0001583	missense			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428	148066	148066		RING-type (C3HC4) zinc fingers	17726	protein-coding gene	gene with protein product		612063			NA		Standard	NM_181710	NM_181710	NA	Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.1171C>T	19.37:g.5456673C>T	ENSP00000222033:p.Arg391Cys	NA	A8K886|O75866	37	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211845	0.39102	.	.	ENSG00000105428	ENST00000222033	T	0.05319	3.46	3.47	3.47	0.39725	.	0.172241	0.34435	U	0.003970	T	0.13713	0.0332	L	0.32530	0.975	0.40657	D	0.982097	D	0.89917	1.0	D	0.75020	0.985	T	0.02477	-1.1153	10	0.62326	D	0.03	-27.0721	11.1698	0.48565	0.0:1.0:0.0:0.0	.	391	Q8WWF5	ZNRF4_HUMAN	C	391	ENSP00000222033:R391C	ENSP00000222033:R391C	R	+	1	0	ZNRF4	5407673	0.977000	0.34250	1.000000	0.80357	0.045000	0.14185	1.309000	0.33539	1.891000	0.54761	0.561000	0.74099	CGC	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450924.1		+	ENST00000222033.4	Missense_Mutation	SNP	19 : 5456673 - 5456673 T PAAD-TCGA-IB-8127-Tumor-SM-3MVD8	392	62
