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
AKAP13	11214	broad.mit.edu	37	15	86212982	86212982	+	Silent	SNP	T	T	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:86212982T>C	ENST00000394518.2	+	14	5117	c.5022T>C	c.(5020-5022)ttT>ttC	p.F1674F	AKAP13_ENST00000361243.2_Silent_p.F1678F|AKAP13_ENST00000560579.1_3'UTR|RP11-815J21.4_ENST00000558980.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1674					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGCAGGGATTTAATTACTGTA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(94;603 1453 3280 32295 32951)							NA				0													151	141	145			NA	NA	15		NA											NA				86212982		2202	4299	6501	SO:0001819	synonymous_variant			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776	11214	11214		A-kinase anchor proteins, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	371	protein-coding gene	gene with protein product		604686	lymphoid blast crisis oncogene	LBC	NA	9627117, 1860836	Standard	NM_007200	NM_007200	NA	Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.5022T>C	15.37:g.86212982T>C		NA	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	37	CCDS32319.1																																																																																			AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417318.1		+	ENST00000394518.2	Silent	SNP	15 : 86212982 - 86212982 C PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	585	100
ALDH3A2	224	broad.mit.edu	37	17	19575061	19575061	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr17:19575061G>T	ENST00000571163.1	+	3	226				ALDH3A2_ENST00000581518.1_Missense_Mutation_p.G412V|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.G412V|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.G412V|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.G412V|ALDH3A2_ENST00000176643.6_Missense_Mutation_p.G412V			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	NA					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	GCTTATCACGGAAAACATAGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	112	112			NA	NA	17		NA											NA				19575061		2203	4300	6503	SO:0001627	intron_variant			L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	224	224	1.2.1.3	Aldehyde dehydrogenases	403	protein-coding gene	gene with protein product	fatty aldehyde dehydrogenase	609523		SLS, ALDH10	NA	7894487	Standard		NM_000382	NA	Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000571163.1:c.227-3810G>T	17.37:g.19575061G>T		NA	Q93011|Q96J37	37		.	.	.	.	.	.	.	.	.	.	G	41	8.756577	0.98941	.	.	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	D;D;D	0.89123	-2.47;-2.47;-2.47	6.06	6.06	0.98353	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.96543	0.8872	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96956	0.9698	10	0.87932	D	0	-23.5621	19.6125	0.95613	0.0:0.0:1.0:0.0	.	412;412	P51648;P51648-2	AL3A2_HUMAN;.	V	412	ENSP00000176643:G412V;ENSP00000378942:G412V;ENSP00000345774:G412V	ENSP00000176643:G412V	G	+	2	0	ALDH3A2	19515653	1.000000	0.71417	0.993000	0.49108	0.773000	0.43773	8.292000	0.89930	2.879000	0.98667	0.650000	0.86243	GGA	ALDH3A2-010	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000441026.2		+	ENST00000571163.1	Intron	SNP	17 : 19575061 - 19575061 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	570	96
ANGPTL7	10218	broad.mit.edu	37	1	11252354	11252354	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:11252354A>G	ENST00000376819.3	+	2	643	c.404A>G	c.(403-405)tAc>tGc	p.Y135C	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	135	Fibrinogen C-terminal.				response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		TCTTCCCTCTACCAGAAGAAC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	157	170			NA	NA	1		NA											NA				11252354		2203	4300	6503	SO:0001583	missense			Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819	10218	10218		Fibrinogen C domain containing	24078	protein-coding gene	gene with protein product					NA	9727400, 11682471	Standard	NM_021146	NM_021146	NA	Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.404A>G	1.37:g.11252354A>G	ENSP00000366015:p.Tyr135Cys	NA	B2R9B2|Q4ZGK4	37	CCDS128.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.304749	0.81247	.	.	ENSG00000171819	ENST00000376819	T	0.77358	-1.09	6.17	6.17	0.99709	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.162445	0.56097	D	0.000024	D	0.87075	0.6087	M	0.80508	2.5	0.54753	D	0.999986	D	0.69078	0.997	D	0.68353	0.957	D	0.87855	0.2660	10	0.54805	T	0.06	.	11.8437	0.52371	0.8695:0.0:0.0:0.1305	.	135	O43827	ANGL7_HUMAN	C	135	ENSP00000366015:Y135C	ENSP00000366015:Y135C	Y	+	2	0	ANGPTL7	11174941	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.667000	0.68067	2.371000	0.80710	0.533000	0.62120	TAC	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005564.1		+	ENST00000376819.3	Missense_Mutation	SNP	1 : 11252354 - 11252354 G PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	702	145
ANKRD28	23243	broad.mit.edu	37	3	15718557	15718557	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr3:15718557C>T	ENST00000399451.2	-	26	3074	c.2707G>A	c.(2707-2709)Gaa>Aaa	p.E903K	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.E936K	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	903						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GCACTAGTTTCATGACCCTAT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	138	141			NA	NA	3		NA											NA				15718557		1878	4121	5999	SO:0001583	missense			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560	23243	23243		Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits, Ankyrin repeat domain containing	29024	protein-coding gene	gene with protein product	phosphatase interactor targeting K protein, protein phosphatase 6 ankyrin repeat subunit A, protein phosphatase 1, regulatory subunit 65	611122			NA	9205841	Standard	NM_015199	NM_015199	NA	Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2707G>A	3.37:g.15718557C>T	ENSP00000382379:p.Glu903Lys	NA	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	37	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	C	35	5.496535	0.96355	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.64991	-0.13;-0.13;-0.13	5.38	5.38	0.77491	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.63674	0.2531	L	0.35341	1.055	0.80722	D	1	P	0.51791	0.948	P	0.56343	0.796	T	0.55347	-0.8155	10	0.06365	T	0.9	.	19.4958	0.95072	0.0:1.0:0.0:0.0	.	903	O15084	ANR28_HUMAN	K	903;936;903	ENSP00000382379:E903K;ENSP00000373287:E936K;ENSP00000397341:E903K	ENSP00000373287:E936K	E	-	1	0	ANKRD28	15693561	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.647000	0.83462	2.681000	0.91329	0.650000	0.86243	GAA	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339758.1		-	ENST00000399451.2	Missense_Mutation	SNP	3 : 15718557 - 15718557 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	470	87
ARHGAP15	55843	broad.mit.edu	37	2	143913143	143913143	+	Silent	SNP	C	C	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr2:143913143C>A	ENST00000409869.1	+	3	261	c.84C>A	c.(82-84)atC>atA	p.I28I	ARHGAP15_ENST00000295095.6_Silent_p.I28I			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	28					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AAATGAGAATCAAAAATGCCA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	84	88			NA	NA	2		NA											NA				143913143		2203	4300	6503	SO:0001819	synonymous_variant			AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884	55843	55843		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	21030	protein-coding gene	gene with protein product		610578			NA	12650940, 11042152	Standard	NM_018460	NM_018460	NA	Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000409869.1:c.84C>A	2.37:g.143913143C>A		NA	Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	37																																																																																				ARHGAP15-002	PUTATIVE	not_organism_supported|not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000332175.1		+	ENST00000409869.1	Silent	SNP	2 : 143913143 - 143913143 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	327	10
ARIH1	25820	broad.mit.edu	37	15	72858942	72858942	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:72858942G>A	ENST00000379887.4	+	8	1264	c.950G>A	c.(949-951)tGt>tAt	p.C317Y		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	317					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						CCTGTTAAATGTAAGGTGAGT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													210	206	208			NA	NA	15		NA											NA				72858942		2198	4297	6495	SO:0001583	missense			AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233	25820	25820			689	protein-coding gene	gene with protein product	ariadne, Drosophila, homolog of	605624	ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1, ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)		NA	10521492, 24058416	Standard	NM_005744	NM_005744	NA	Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.950G>A	15.37:g.72858942G>A	ENSP00000369217:p.Cys317Tyr	NA	B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	37	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572572	0.86542	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	D	0.94280	-3.39	5.27	5.27	0.74061	Zinc finger, C6HC-type (2);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	H	0.99026	4.405	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.99809	1.1040	10	0.87932	D	0	.	18.9619	0.92680	0.0:0.0:1.0:0.0	.	317	Q9Y4X5	ARI1_HUMAN	Y	317;287	ENSP00000369217:C317Y	ENSP00000299305:C287Y	C	+	2	0	ARIH1	70645996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.204000	0.95041	2.460000	0.83146	0.644000	0.83932	TGT	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257350.1		+	ENST00000379887.4	Missense_Mutation	SNP	15 : 72858942 - 72858942 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	598	11
ATP13A5	344905	broad.mit.edu	37	3	193081933	193081933	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr3:193081933G>T	ENST00000342358.4	-	2	317	c.200C>A	c.(199-201)cCc>cAc	p.P67H		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	67					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTCTTGCAAGGGGCATGGGAT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	158	161			NA	NA	3		NA											NA				193081933		2203	4300	6503	SO:0001583	missense			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527	344905	344905		ATPases / P-type	31789	protein-coding gene	gene with protein product					NA		Standard	NM_198505	NM_198505	NA	Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.200C>A	3.37:g.193081933G>T	ENSP00000341942:p.Pro67His	NA	Q6UWS4|Q6ZWL0	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.558540	0.45590	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.26810	1.71;1.71	5.5	5.5	0.81552	.	1.028430	0.07696	N	0.939569	T	0.45776	0.1359	M	0.61703	1.905	0.23872	N	0.996606	P	0.42556	0.783	P	0.53450	0.726	T	0.36744	-0.9735	10	0.62326	D	0.03	-0.3321	12.9373	0.58322	0.0:0.1628:0.8372:0.0	.	67	Q4VNC0	AT135_HUMAN	H	67;89	ENSP00000341942:P67H;ENSP00000389416:P89H	ENSP00000341942:P67H	P	-	2	0	ATP13A5	194564627	0.703000	0.27826	0.735000	0.30896	0.211000	0.24417	2.071000	0.41500	2.765000	0.95021	0.650000	0.86243	CCC	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343012.1		-	ENST00000342358.4	Missense_Mutation	SNP	3 : 193081933 - 193081933 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	1189	12
BNC1	646	broad.mit.edu	37	15	83926674	83926674	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:83926674C>T	ENST00000569704.1	-	5	2590	c.2484G>A	c.(2482-2484)acG>acA	p.T828T	BNC1_ENST00000345382.2_Silent_p.T835T|RP11-382A20.4_ENST00000565495.1_RNA			Q01954	BNC1_HUMAN	basonuclin 1	835					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGTGGACTTGCGTTATTGGGT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	104	109			NA	NA	15		NA											NA				83926674		2203	4300	6503	SO:0001819	synonymous_variant			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594	646	646		Zinc fingers, C2H2-type	1081	protein-coding gene	gene with protein product		601930	basonuclin	BNC	NA	1332044	Standard	NM_001717	NM_001717	NA	Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000569704.1:c.2484G>A	15.37:g.83926674C>T		NA	Q15840	37																																																																																				BNC1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420010.1		-	ENST00000569704.1	Silent	SNP	15 : 83926674 - 83926674 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	530	88
BRWD3	254065	broad.mit.edu	37	X	79985487	79985487	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chrX:79985487G>A	ENST00000373275.4	-	13	1376	c.1160C>T	c.(1159-1161)aCg>aTg	p.T387M		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	387										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AATTCTTGCCGTTCCATCTCG	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	132	140			NA	NA	X		NA											NA				79985487		2203	4299	6502	SO:0001583	missense				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288	254065	254065		WD repeat domain containing	17342	protein-coding gene	gene with protein product		300553			NA	15543602, 16094372	Standard	NM_153252	NM_153252	NA	Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1160C>T	X.37:g.79985487G>A	ENSP00000362372:p.Thr387Met	NA	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237206	0.79800	.	.	ENSG00000165288	ENST00000373275	T	0.69561	-0.41	4.37	4.37	0.52481	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82655	0.5084	M	0.83953	2.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.85220	0.1026	9	.	.	.	-2.364	16.3826	0.83473	0.0:0.0:1.0:0.0	.	387	Q6RI45	BRWD3_HUMAN	M	387	ENSP00000362372:T387M	.	T	-	2	0	BRWD3	79872143	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.207000	0.77899	2.035000	0.60131	0.513000	0.50165	ACG	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057344.1		-	ENST00000373275.4	Missense_Mutation	SNP	X : 79985487 - 79985487 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	347	87
BTG2	7832	broad.mit.edu	37	1	203276480	203276480	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:203276480T>G	ENST00000290551.4	+	2	462	c.391T>G	c.(391-393)Tcc>Gcc	p.S131A		NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	131					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			ACTGGCCGCCTCCTGTGGGCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	47	46			NA	NA	1		NA											NA				203276480		2203	4300	6503	SO:0001583	missense				CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388	7832	7832			1131	protein-coding gene	gene with protein product	B-cell translocation gene 2, pheochromacytoma cell-3, NGF-inducible anti-proliferative protein PC3, nerve growth factor-inducible anti-proliferative	601597			NA	8944033	Standard	NM_006763	NM_006763	NA	Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.391T>G	1.37:g.203276480T>G	ENSP00000290551:p.Ser131Ala	NA	Q3KR25|Q5VUT0	37	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	T	8.763	0.924122	0.18056	.	.	ENSG00000159388	ENST00000290551	T	0.24151	1.87	5.06	3.91	0.45181	.	0.094228	0.45361	D	0.000365	T	0.19248	0.0462	L	0.44542	1.39	0.32156	N	0.58352	B	0.14805	0.011	B	0.16289	0.015	T	0.09164	-1.0687	10	0.38643	T	0.18	-12.5884	6.3092	0.21154	0.0:0.0854:0.1574:0.7572	.	131	P78543	BTG2_HUMAN	A	131	ENSP00000290551:S131A	ENSP00000290551:S131A	S	+	1	0	BTG2	201543103	1.000000	0.71417	0.995000	0.50966	0.423000	0.31445	1.427000	0.34881	1.911000	0.55334	0.260000	0.18958	TCC	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087168.1		+	ENST00000290551.4	Missense_Mutation	SNP	1 : 203276480 - 203276480 G PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	736	169
C6orf195	154386	broad.mit.edu	37	6	2624100	2624100	+	Translation_Start_Site	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr6:2624100G>C	ENST00000296847.3	-	0	480					NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	NA										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TTCTTATGTTGATTCTTCTAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	25	25			NA	NA	6		NA											NA				2624100		1824	4027	5851					AK056496	CCDS43416.1	6p25.2	2008-10-21			ENSG00000164385	ENSG00000164385	154386	154386			21600	protein-coding gene	gene with protein product					NA		Standard	NM_152554	NM_152554	NA	Approved	FLJ31934, bA145H9.2	uc003mtw.2	Q96MT4	OTTHUMG00000014122	ENST00000296847.3:c.-44C>G	6.37:g.2624100G>C		NA	Q3SY08|Q3SY09|Q3SY10|Q5TAW4	37	CCDS43416.1																																																																																			C6orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039633.1		-	ENST00000296847.3	De_novo_Start_OutOfFrame	SNP	6 : 2624100 - 2624100 C PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	164	41
CCDC27	148870	broad.mit.edu	37	1	3673402	3673402	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:3673402A>T	ENST00000294600.2	+	4	743	c.659A>T	c.(658-660)cAg>cTg	p.Q220L		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	220										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GTCGCATCTCAGAGCTGCCTG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	49	49			NA	NA	1		NA											NA				3673402		2203	4300	6503	SO:0001583	missense				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592	148870	148870			26546	protein-coding gene	gene with protein product					NA		Standard	NM_152492	NM_152492	NA	Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.659A>T	1.37:g.3673402A>T	ENSP00000294600:p.Gln220Leu	NA	Q5TBV3|Q96M50	37	CCDS50.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.809654	0.31961	.	.	ENSG00000162592	ENST00000294600	T	0.21031	2.03	3.84	1.11	0.20524	.	0.944655	0.08686	N	0.908701	T	0.14570	0.0352	L	0.29908	0.895	0.09310	N	1	P	0.42584	0.784	B	0.40101	0.319	T	0.21484	-1.0244	10	0.66056	D	0.02	-10.1696	3.8496	0.08949	0.5575:0.2248:0.0:0.2177	.	220	Q2M243	CCD27_HUMAN	L	220	ENSP00000294600:Q220L	ENSP00000294600:Q220L	Q	+	2	0	CCDC27	3663262	0.065000	0.20965	0.006000	0.13384	0.246000	0.25737	1.393000	0.34497	0.584000	0.29591	0.260000	0.18958	CAG	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009740.1		+	ENST00000294600.2	Missense_Mutation	SNP	1 : 3673402 - 3673402 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	223	5
CD163L1	283316	broad.mit.edu	37	12	7531847	7531847	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr12:7531847C>A	ENST00000416109.2	-	9	2146	c.2128G>T	c.(2128-2130)Gct>Tct	p.A710S	CD163L1_ENST00000396630.1_Missense_Mutation_p.A700S|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000313599.3_Missense_Mutation_p.A700S	NM_174941.4	NP_777601.2	Q9NR16	C163B_HUMAN	CD163 molecule-like 1	700	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACTTTTCCAGCACACCTGCTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	79	87			NA	NA	12		NA											NA				7531847		2203	4300	6503	SO:0001583	missense			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675	283316	283316			30375	protein-coding gene	gene with protein product		606079	CD163 antigen-like 1		NA	11124526, 11086079	Standard	NM_174941	XM_005253348	NA	Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000416109.2:c.2128G>T	12.37:g.7531847C>A	ENSP00000393474:p.Ala710Ser	NA	C9JHR7|Q6UWC2	37		.	.	.	.	.	.	.	.	.	.	C	16.36	3.100219	0.56183	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.34667	1.35;1.35;1.35	2.79	1.87	0.25490	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.483859	0.14903	U	0.291704	T	0.29976	0.0750	N	0.17922	0.545	0.23331	N	0.997896	P;D	0.55605	0.926;0.972	P;P	0.57152	0.73;0.814	T	0.11891	-1.0569	10	0.10636	T	0.68	.	6.9468	0.24522	0.0:0.8482:0.0:0.1518	.	710;700	E7EVK4;Q9NR16	.;C163B_HUMAN	S	700;710;700	ENSP00000315945:A700S;ENSP00000393474:A710S;ENSP00000379871:A700S	ENSP00000315945:A700S	A	-	1	0	CD163L1	7423114	0.103000	0.21917	0.599000	0.28851	0.548000	0.35241	-0.006000	0.12833	1.492000	0.48499	0.455000	0.32223	GCT	CD163L1-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399330.1		-	ENST00000416109.2	Missense_Mutation	SNP	12 : 7531847 - 7531847 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	286	8
CDH11	1009	broad.mit.edu	37	16	64981819	64981819	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:64981819C>T	ENST00000268603.4	-	13	2693	c.2078G>A	c.(2077-2079)cGc>cAc	p.R693H	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.R567H	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	693					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GATGTCTTTGCGGGGGATAAA	0.488		NA	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16q22.1	1009	cadherin 11, type 2, OB-cadherin (osteoblast)		M	0													140	135	137			NA	NA	16		NA											NA				64981819		2203	4300	6503	SO:0001583	missense			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937	1009	1009		Cadherins / Major cadherins	1750	protein-coding gene	gene with protein product	OB-Cadherin	600023			NA	9615235	Standard	NM_033664	NM_001797	NA	Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2078G>A	16.37:g.64981819C>T	ENSP00000268603:p.Arg693His	NA	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	37	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591103	0.86851	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	T	0.78924	-1.22	6.17	6.17	0.99709	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.90549	0.7038	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91017	0.4854	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	693	P55287	CAD11_HUMAN	H	693;676	ENSP00000268603:R693H	ENSP00000268603:R693H	R	-	2	0	CDH11	63539320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGC	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268755.1		-	ENST00000268603.4	Missense_Mutation	SNP	16 : 64981819 - 64981819 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	914	332
COL6A2	1292	broad.mit.edu	37	21	47545202	47545202	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr21:47545202T>A	ENST00000300527.4	+	24	1897	c.1793T>A	c.(1792-1794)gTg>gAg	p.V598E	COL6A2_ENST00000310645.5_Missense_Mutation_p.V598E|COL6A2_ENST00000397763.1_Missense_Mutation_p.V598E|COL6A2_ENST00000409416.1_Missense_Mutation_p.V598E|COL6A2_ENST00000357838.4_Missense_Mutation_p.V598E	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	598	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ATGACCTACGTGAGGGAGACC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	97	97			NA	NA	21		NA											NA				47545202		2203	4300	6503	SO:0001583	missense			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173	NA	1292		Collagens	2212	protein-coding gene	gene with protein product		120240			NA		Standard		NM_001849	NA	Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1793T>A	21.37:g.47545202T>A	ENSP00000300527:p.Val598Glu	NA	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.773717	0.90108	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763;ENST00000413758	D;D;D;D;D;T	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-1.12	4.51	4.51	0.55191	.	0.286383	0.35739	N	0.003001	D	0.95551	0.8554	M	0.65498	2.005	0.54753	D	0.999989	D;D;D	0.69078	0.995;0.997;0.994	P;D;P	0.66497	0.841;0.944;0.9	D	0.95952	0.8955	10	0.87932	D	0	-19.3525	13.8316	0.63384	0.0:0.0:0.0:1.0	.	598;598;598	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	E	598;598;598;598;598;139	ENSP00000300527:V598E;ENSP00000350497:V598E;ENSP00000312529:V598E;ENSP00000387115:V598E;ENSP00000380870:V598E;ENSP00000395751:V139E	ENSP00000300527:V598E	V	+	2	0	COL6A2	46369630	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.636000	0.83301	1.683000	0.51011	0.472000	0.43445	GTG	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206971.1		+	ENST00000300527.4	Missense_Mutation	SNP	21 : 47545202 - 47545202 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	949	30
DEK	7913	broad.mit.edu	37	6	18258216	18258216	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr6:18258216G>C	ENST00000397239.3	-	4	772	c.325C>G	c.(325-327)Cta>Gta	p.L109V	DEK_ENST00000244776.7_Missense_Mutation_p.L75V	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	109					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			AGTTTGTGTAGATTTCTAAGT	0.333		NA	T	NUP214	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	0													124	118	120			NA	NA	6		NA											NA				18258216		2202	4299	6501	SO:0001583	missense			X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795	7913	7913			2768	protein-coding gene	gene with protein product		125264	DEK oncogene (DNA binding), DEK oncogene		NA	1549122	Standard		NM_003472	NA	Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.325C>G	6.37:g.18258216G>C	ENSP00000380414:p.Leu109Val	NA	B2R6K6|Q5TGV4|Q5TGV5	37	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732566	0.69189	.	.	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000503715;ENST00000515742	T;T;T;T	0.75938	-0.98;-0.85;-0.19;-0.5	6.17	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	L	0.59436	1.845	0.44000	D	0.996703	D;D	0.54772	0.968;0.968	D;D	0.70716	0.97;0.97	T	0.79976	-0.1576	10	0.52906	T	0.07	-12.7977	11.3849	0.49778	0.1365:0.0:0.8635:0.0	.	75;109	B4DN37;P35659	.;DEK_HUMAN	V	109;75;42;114	ENSP00000380414:L109V;ENSP00000244776:L75V;ENSP00000425399:L42V;ENSP00000423553:L114V	ENSP00000244776:L75V	L	-	1	2	DEK	18366195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.999000	0.57031	1.631000	0.50456	0.655000	0.94253	CTA	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039962.4		-	ENST00000397239.3	Missense_Mutation	SNP	6 : 18258216 - 18258216 C PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	222	47
DMP1	1758	broad.mit.edu	37	4	88583249	88583249	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr4:88583249G>T	ENST00000339673.6	+	6	418	c.319G>T	c.(319-321)Gat>Tat	p.D107Y	RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D91Y	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	107					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TGACGATGAAGATGACAGTGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	86	88			NA	NA	4		NA											NA				88583249		2203	4300	6503	SO:0001583	missense			U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592	1758	1758			2932	protein-coding gene	gene with protein product		600980	dentin matrix acidic phosphoprotein		NA	8586437, 9177774	Standard		NM_001079911	NA	Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.319G>T	4.37:g.88583249G>T	ENSP00000340935:p.Asp107Tyr	NA	A1L4L3|O43265	37	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677163	0.47886	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.60171	0.21;0.21	5.24	5.24	0.73138	.	0.000000	0.56097	D	0.000023	T	0.72479	0.3465	L	0.54323	1.7	0.47862	D	0.99953	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75071	-0.3447	10	0.87932	D	0	-12.8053	16.6154	0.84909	0.0:0.0:1.0:0.0	.	91;107	Q13316-2;Q13316	.;DMP1_HUMAN	Y	107;91	ENSP00000340935:D107Y;ENSP00000282479:D91Y	ENSP00000282479:D91Y	D	+	1	0	DMP1	88802273	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	6.210000	0.72176	2.457000	0.83068	0.455000	0.32223	GAT	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253047.1		+	ENST00000339673.6	Missense_Mutation	SNP	4 : 88583249 - 88583249 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	392	10
DUOXA2	405753	broad.mit.edu	37	15	45406819	45406819	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:45406819G>A	ENST00000323030.5	+	1	301	c.16G>A	c.(16-18)Ggc>Agc	p.G6S		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	6					protein transport	endoplasmic reticulum membrane|integral to membrane					NA		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CCTGTGGAACGGCGTACTGCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	64	68			NA	NA	15		NA											NA				45406819		2198	4298	6496	SO:0001583	missense			BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274	405753	405753			32698	protein-coding gene	gene with protein product		612772			NA	16651268	Standard	NM_207581	NM_207581	NA	Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.16G>A	15.37:g.45406819G>A	ENSP00000319705:p.Gly6Ser	NA	B2RPI9	37	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836709	0.71373	.	.	ENSG00000140274	ENST00000323030;ENST00000350243	T	0.57752	0.38	4.98	4.06	0.47325	.	0.262703	0.39475	N	0.001347	T	0.54159	0.1841	L	0.32530	0.975	0.46185	D	0.998911	D	0.76494	0.999	P	0.56088	0.791	T	0.56001	-0.8051	10	0.52906	T	0.07	-18.908	12.4824	0.55852	0.0813:0.0:0.9186:0.0	.	6	Q1HG44	DOXA2_HUMAN	S	6	ENSP00000319705:G6S	ENSP00000319705:G6S	G	+	1	0	DUOXA2	43194111	1.000000	0.71417	0.040000	0.18447	0.274000	0.26718	5.890000	0.69774	1.231000	0.43661	0.591000	0.81541	GGC	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254142.1		+	ENST00000323030.5	Missense_Mutation	SNP	15 : 45406819 - 45406819 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	245	49
ENTHD1	150350	broad.mit.edu	37	22	40257992	40257992	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr22:40257992A>C	ENST00000325157.6	-	3	620	c.370T>G	c.(370-372)Tct>Gct	p.S124A		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	124	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					ACTTGCTTAGATTTTTCCCGG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	44	46			NA	NA	22		NA											NA				40257992		2203	4300	6503	SO:0001583	missense			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177	150350	150350			26352	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152512	NM_152512	NA	Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.370T>G	22.37:g.40257992A>C	ENSP00000317431:p.Ser124Ala	NA	B0QYD5|Q5H9F7|Q96LK3	37	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.990702	0.35131	.	.	ENSG00000176177	ENST00000325157	T	0.37058	1.22	6.17	5.12	0.69794	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.175744	0.40385	N	0.001101	T	0.17152	0.0412	N	0.01410	-0.885	0.28314	N	0.92253	B	0.30870	0.298	B	0.43728	0.429	T	0.43261	-0.9402	10	0.06099	T	0.92	-9.4664	9.6484	0.39881	0.845:0.0:0.0:0.155	.	124	Q8IYW4	ENTD1_HUMAN	A	124	ENSP00000317431:S124A	ENSP00000317431:S124A	S	-	1	0	ENTHD1	38587938	1.000000	0.71417	1.000000	0.80357	0.249000	0.25844	3.170000	0.50816	1.105000	0.41606	0.533000	0.62120	TCT	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321302.1		-	ENST00000325157.6	Missense_Mutation	SNP	22 : 40257992 - 40257992 C PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	193	9
EPG5	57724	broad.mit.edu	37	18	43460178	43460178	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr18:43460178C>T	ENST00000282041.5	-	32	5563	c.5529G>A	c.(5527-5529)gaG>gaA	p.E1843E	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1843					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCAGAAGCTGCTCCGCGGAGC	0.592		NA									OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	12	11			NA	NA	18		NA											NA				43460178		1859	4061	5920	SO:0001819	synonymous_variant			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223	57724	57724			29331	protein-coding gene	gene with protein product		615068	KIAA1632	KIAA1632	NA	10997877, 20550938	Standard	NM_020964	XM_005258323	NA	Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5529G>A	18.37:g.43460178C>T		916	A2BDF3|Q9H8C8	37	CCDS11926.2																																																																																			EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445081.1		-	ENST00000282041.5	Silent	SNP	18 : 43460178 - 43460178 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	166	6
EPHB4	2050	broad.mit.edu	37	7	100414848	100414848	+	Silent	SNP	G	G	A	rs148818692		TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr7:100414848G>A	ENST00000358173.3	-	8	2022	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	EPHB4_ENST00000477446.1_Intron|EPHB4_ENST00000360620.3_Silent_p.F518F	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	518	Fibronectin type-III 2.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTTCCTGGCCGAAGGGCCCGT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(200;2113 3072 25865 52728)							NA				0								G		0,4404		0,0,2202	18	19	18		1554	-6.7	0.5	7	dbSNP_134	18	1,8597		0,1,4298	no	coding-synonymous	EPHB4	NM_004444.4		0,1,6500	AA,AG,GG	NA	0.0116,0.0,0.0077		518/988	100414848	1,13001	2202	4299	6501	SO:0001819	synonymous_variant			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411	2050	2050		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3395	protein-coding gene	gene with protein product		600011	EphB4	HTK	NA	8188704	Standard	NM_004444	NM_004444	NA	Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1554C>T	7.37:g.100414848G>A		NA	Q9BTA5|Q9BXP0	37	CCDS5706.1																																																																																			EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347222.1		-	ENST00000358173.3	Silent	SNP	7 : 100414848 - 100414848 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	179	45
ESAM	90952	broad.mit.edu	37	11	124626110	124626110	+	Silent	SNP	T	T	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:124626110T>C	ENST00000278927.5	-	4	729	c.600A>G	c.(598-600)ccA>ccG	p.P200P	ESAM_ENST00000442070.2_Intron	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	200	Ig-like C2-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CACCTAATGCTGGTGCAAAGA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	51	54			NA	NA	11		NA											NA				124626110		2201	4299	6500	SO:0001819	synonymous_variant			AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564	90952	90952		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	17474	protein-coding gene	gene with protein product		614281			NA	11279107, 11906820	Standard	NM_138961	NM_138961	NA	Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.600A>G	11.37:g.124626110T>C		NA	Q96T50	37	CCDS8453.1																																																																																			ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324686.1		-	ENST00000278927.5	Silent	SNP	11 : 124626110 - 124626110 C PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	267	64
FAM135B	51059	broad.mit.edu	37	8	139180258	139180258	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr8:139180258G>A	ENST00000395297.1	-	12	1308	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	380										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCGAGTTCCGGATATCCAGG	0.597		NA								HNSCC(54;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	110	107			NA	NA	8		NA											NA				139180258		2112	4226	6338	SO:0001583	missense			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724	51059	51059			28029	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_015912	NM_015912	NA	Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1138C>T	8.37:g.139180258G>A	ENSP00000378710:p.Arg380Trp	NA	B5MDB3|O95879|Q2WGJ7|Q3KP46	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644994	0.67358	.	.	ENSG00000147724	ENST00000395297	D	0.90676	-2.71	5.66	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.95169	0.8434	M	0.80982	2.52	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.95690	0.8739	10	0.87932	D	0	-19.8469	14.775	0.69724	0.0:0.0:0.8544:0.1456	.	380	Q49AJ0	F135B_HUMAN	W	380	ENSP00000378710:R380W	ENSP00000276737:R380W	R	-	1	2	FAM135B	139249440	1.000000	0.71417	0.858000	0.33744	0.238000	0.25445	3.644000	0.54381	1.460000	0.47911	0.655000	0.94253	CGG	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313590.3		-	ENST00000395297.1	Missense_Mutation	SNP	8 : 139180258 - 139180258 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	720	21
FAM183B	340286	broad.mit.edu	37	7	38725545	38725545	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr7:38725545G>A	ENST00000409072.3	-	2	995	c.61C>T	c.(61-63)Cgg>Tgg	p.R21W						family with sequence similarity 183, member B	NA								p.R21W(2)		endometrium(1)|lung(7)	8						TACAGCTCCCGCAAGATCTGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											96	99	98			NA	NA	7		NA											NA				38725545		1974	4150	6124	SO:0001583	missense			AK124132, BC045803		7p14.1	2008-08-11			ENSG00000164556	ENSG00000164556	340286	340286			34511	protein-coding gene	gene with protein product					NA		Standard	NM_001105282	NR_028347	NA	Approved	LOC340286	uc011kbd.2	Q6ZVS7	OTTHUMG00000153653	ENST00000409072.3:c.61C>T	7.37:g.38725545G>A	ENSP00000386657:p.Arg21Trp	NA		37		.	.	.	.	.	.	.	.	.	.	G	12.69	2.012918	0.35511	.	.	ENSG00000164556	ENST00000409072	.	.	.	0.9	-0.227	0.13102	.	0.452618	0.20718	N	0.086971	T	0.24661	0.0598	.	.	.	0.24891	N	0.992167	.	.	.	.	.	.	T	0.09840	-1.0656	6	0.37606	T	0.19	.	2.705	0.05159	0.4381:0.0:0.5618:0.0	.	.	.	.	W	21	.	ENSP00000386657:R21W	R	-	1	2	FAM183B	38692070	0.771000	0.28555	0.915000	0.36163	0.918000	0.54935	-0.070000	0.11523	0.308000	0.22923	0.313000	0.20887	CGG	FAM183B-001	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000331972.1		-	ENST00000409072.3	Missense_Mutation	SNP	7 : 38725545 - 38725545 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	527	129
FANCA	2175	broad.mit.edu	37	16	89838200	89838200	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:89838200C>T	ENST00000389301.3	-	23	2067	c.2037G>A	c.(2035-2037)gtG>gtA	p.V679V	FANCA_ENST00000568369.1_Silent_p.V679V|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	679					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TTTCAGAAATCACTGCCACCT	0.527		NA	D, Mis, N, F, S			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	Fanconi anemia, complementation group A		L	0													118	99	105			NA	NA	16		NA											NA				89838200		2198	4300	6498	SO:0001819	synonymous_variant	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741	2175	2175		Fanconi anemia, complementation groups	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH	NA	7581462, 9382107	Standard		NM_001286167	NA	Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2037G>A	16.37:g.89838200C>T		NA	A5D923|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	37	CCDS32515.1																																																																																			FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421927.1		-	ENST00000389301.3	Silent	SNP	16 : 89838200 - 89838200 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	396	167
FBXO40	51725	broad.mit.edu	37	3	121345596	121345596	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr3:121345596G>A	ENST00000338040.4	+	4	2383	c.1969G>A	c.(1969-1971)Gtc>Atc	p.V657I		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	657					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GTTTAATGAAGTCACCTCCAT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	151	151			NA	NA	3		NA											NA				121345596		2203	4300	6503	SO:0001583	missense			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833	51725	51725		F-boxes /  other	29816	protein-coding gene	gene with protein product		609107			NA	10574462	Standard	NM_016298	NM_016298	NA	Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1969G>A	3.37:g.121345596G>A	ENSP00000337510:p.Val657Ile	NA	B2RAX7|Q32M70|Q9ULM5	37	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451162	0.43531	.	.	ENSG00000163833	ENST00000338040	T	0.30714	1.52	6.17	5.3	0.74995	F-box domain, Skp2-like (1);	0.244440	0.40144	N	0.001170	T	0.20333	0.0489	L	0.28608	0.87	0.37080	D	0.898954	B	0.31318	0.319	B	0.30105	0.111	T	0.07046	-1.0793	10	0.06494	T	0.89	-14.5867	13.5664	0.61822	0.0747:0.0:0.9253:0.0	.	657	Q9UH90	FBX40_HUMAN	I	657	ENSP00000337510:V657I	ENSP00000337510:V657I	V	+	1	0	FBXO40	122828286	0.692000	0.27719	0.985000	0.45067	0.990000	0.78478	1.954000	0.40362	1.626000	0.50381	0.655000	0.94253	GTC	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355158.1		+	ENST00000338040.4	Missense_Mutation	SNP	3 : 121345596 - 121345596 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	1117	25
FBXO45	200933	broad.mit.edu	37	3	196311085	196311085	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr3:196311085G>A	ENST00000311630.6	+	3	1054	c.757G>A	c.(757-759)Gct>Act	p.A253T	FBXO45_ENST00000440469.1_Missense_Mutation_p.A74T	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	253	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CCTGGGGGTTGCTTTTAGAGG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	121	121			NA	NA	3		NA											NA				196311085		1860	4087	5947	SO:0001583	missense			AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013	200933	200933		F-boxes /  other	29148	protein-coding gene	gene with protein product		609112			NA		Standard		NM_001105573	NA	Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.757G>A	3.37:g.196311085G>A	ENSP00000310332:p.Ala253Thr	NA	A6NF90|D3DXB5	37	CCDS46985.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629998	0.87660	.	.	ENSG00000174013	ENST00000440469;ENST00000311630	T;T	0.60548	0.18;0.18	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.79592	0.4472	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82756	-0.0300	10	0.87932	D	0	-10.3492	18.7709	0.91892	0.0:0.0:1.0:0.0	.	253	P0C2W1	FBSP1_HUMAN	T	74;253	ENSP00000389868:A74T;ENSP00000310332:A253T	ENSP00000310332:A253T	A	+	1	0	FBXO45	197795482	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.985000	0.93487	2.740000	0.93945	0.563000	0.77884	GCT	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340687.2		+	ENST00000311630.6	Missense_Mutation	SNP	3 : 196311085 - 196311085 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	406	88
FHOD3	80206	broad.mit.edu	37	18	34289290	34289290	+	Silent	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr18:34289290G>A	ENST00000590592.1	+	18	2469	c.2469G>A	c.(2467-2469)tcG>tcA	p.S823S	FHOD3_ENST00000445677.1_Silent_p.S610S|FHOD3_ENST00000257209.4_Silent_p.S648S|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000359247.4_Silent_p.S631S	NM_001281740.1	NP_001268669.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	631					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCAGCGTCTCGTCCTCCAGCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	48	52			NA	NA	18		NA											NA				34289290		2203	4300	6503	SO:0001819	synonymous_variant			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775	80206	80206			26178	protein-coding gene	gene with protein product		609691			NA	11214970	Standard	XM_371114	NM_025135	NA	Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000590592.1:c.2469G>A	18.37:g.34289290G>A		NA	A8MQT4|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	37	CCDS32816.1																																																																																			FHOD3-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460883.1		+	ENST00000590592.1	Silent	SNP	18 : 34289290 - 34289290 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	251	9
FLNA	2316	broad.mit.edu	37	X	153583275	153583275	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chrX:153583275T>C	ENST00000344736.4	-	29	5153	c.5111A>G	c.(5110-5112)tAc>tGc	p.Y1704C	FLNA_ENST00000369850.3_Missense_Mutation_p.Y1712C|FLNA_ENST00000422373.1_Missense_Mutation_p.Y1704C|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000360319.4_Missense_Mutation_p.Y1704C			P21333	FLNA_HUMAN	filamin A, alpha	1712					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGGGCCGTGTAGAAGATGTC	0.617		NA									OREG0003595	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	53	52			NA	NA	X		NA											NA				153583275		2176	4244	6420	SO:0001583	missense			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924	NA	2316			3754	protein-coding gene	gene with protein product	actin binding protein 280	300017	filamin A, alpha (actin binding protein 280)	FLN1, FLN, OPD2, OPD1	NA	8406501, 12612583	Standard		NM_001456	NA	Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000344736.4:c.5111A>G	X.37:g.153583275T>C	ENSP00000358863:p.Tyr1704Cys	1756	Q5HY53|Q5HY55|Q8NF52	37		.	.	.	.	.	.	.	.	.	.	T	16.21	3.057671	0.55325	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7	5.12	5.12	0.69794	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.98485	0.9495	H	0.96748	3.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99605	1.0979	10	0.87932	D	0	.	14.2282	0.65873	0.0:0.0:0.0:1.0	.	1704;1712	P21333-2;P21333	.;FLNA_HUMAN	C	1704;1685;1704;1712;1704	ENSP00000353467:Y1704C;ENSP00000416926:Y1704C;ENSP00000358866:Y1712C;ENSP00000358863:Y1704C	ENSP00000358863:Y1704C	Y	-	2	0	FLNA	153236469	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	6.061000	0.71148	1.806000	0.52798	0.486000	0.48141	TAC	FLNA-010	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000130295.1		-	ENST00000344736.4	Missense_Mutation	SNP	X : 153583275 - 153583275 C PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	352	110
GLCE	26035	broad.mit.edu	37	15	69553486	69553486	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:69553486A>C	ENST00000559420.2	+	2	660	c.455A>C	c.(454-456)cAg>cCg	p.Q152P	GLCE_ENST00000261858.2_Missense_Mutation_p.Q216P|GLCE_ENST00000559500.1_3'UTR			O94923	GLCE_HUMAN	glucuronic acid epimerase	216					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CAGATTGCACAGTATGGATTA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	105	108			NA	NA	15		NA											NA				69553486		2200	4298	6498	SO:0001583	missense			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	26035	26035	5.1.3.12		17855	protein-coding gene	gene with protein product	heparan sulfate epimerase	612134	D-glucuronyl C5-epimerase, UDP-glucuronic acid epimerase		NA	15853773	Standard	NM_015554	NM_015554	NA	Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000559420.2:c.455A>C	15.37:g.69553486A>C	ENSP00000454092:p.Gln152Pro	NA	Q6GUQ2	37		.	.	.	.	.	.	.	.	.	.	A	22.4	4.278449	0.80692	.	.	ENSG00000138604	ENST00000261858	T	0.59502	0.26	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.81942	2.565	0.80722	D	1	D	0.61697	0.99	D	0.70487	0.969	T	0.80238	-0.1465	10	0.87932	D	0	-8.1086	15.2185	0.73288	1.0:0.0:0.0:0.0	.	216	O94923	GLCE_HUMAN	P	216	ENSP00000261858:Q216P	ENSP00000261858:Q216P	Q	+	2	0	GLCE	67340540	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.198000	0.94994	2.265000	0.75225	0.482000	0.46254	CAG	GLCE-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000416668.3		+	ENST00000559420.2	Missense_Mutation	SNP	15 : 69553486 - 69553486 C PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	544	136
GPR12	2835	broad.mit.edu	37	13	27333003	27333003	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr13:27333003G>A	ENST00000381436.2	-	1	1424	c.962C>T	c.(961-963)cCg>cTg	p.P321L	GPR12_ENST00000405846.3_Missense_Mutation_p.P321L			P47775	GPR12_HUMAN	G protein-coupled receptor 12	321						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GAGACTGGACGGGATGCAGCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	79	79			NA	NA	13		NA											NA				27333003		2203	4300	6503	SO:0001583	missense			U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975	NA	2835		GPCR / Class A : Orphans	4466	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 84	600752			NA	8262253, 8530049	Standard		NM_005288	NA	Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.962C>T	13.37:g.27333003G>A	ENSP00000370844:p.Pro321Leu	NA	Q5T8P3	37	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896130	0.72639	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.36157	1.27;1.27	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	L	0.58101	1.795	0.80722	D	1	D	0.53885	0.963	B	0.43082	0.407	T	0.44787	-0.9305	10	0.62326	D	0.03	.	19.3487	0.94376	0.0:0.0:1.0:0.0	.	321	P47775	GPR12_HUMAN	L	321	ENSP00000384932:P321L;ENSP00000370844:P321L	ENSP00000370844:P321L	P	-	2	0	GPR12	26231003	1.000000	0.71417	0.819000	0.32651	0.982000	0.71751	9.739000	0.98837	2.594000	0.87642	0.511000	0.50034	CCG	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044257.2		-	ENST00000381436.2	Missense_Mutation	SNP	13 : 27333003 - 27333003 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	328	8
GREB1	9687	broad.mit.edu	37	2	11742547	11742547	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr2:11742547C>T	ENST00000381486.2	+	17	2845	c.2545C>T	c.(2545-2547)Cat>Tat	p.H849Y	GREB1_ENST00000234142.5_Missense_Mutation_p.H849Y	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	849						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGACTTATATCATGAAAATAA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(39;850 945 2785 23371 33093)							NA				0													152	152	152			NA	NA	2		NA											NA				11742547		1901	4137	6038	SO:0001583	missense				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208	9687	9687			24885	protein-coding gene	gene with protein product	gene regulated by estrogen in breast cancer	611736			NA	11103799	Standard	NM_014668	NM_014668	NA	Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2545C>T	2.37:g.11742547C>T	ENSP00000370896:p.His849Tyr	NA	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984251	0.53827	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.47869	0.83;0.83;0.83	5.64	5.64	0.86602	.	0.252735	0.39020	N	0.001498	T	0.45155	0.1328	L	0.50333	1.59	0.80722	D	1	B;P	0.40875	0.429;0.731	B;B	0.37091	0.241;0.241	T	0.33777	-0.9855	10	0.29301	T	0.29	-41.315	19.6906	0.95999	0.0:1.0:0.0:0.0	.	483;849	C9JIG0;Q4ZG55	.;GREB1_HUMAN	Y	849;849;483	ENSP00000370896:H849Y;ENSP00000234142:H849Y;ENSP00000403886:H483Y	ENSP00000234142:H849Y	H	+	1	0	GREB1	11659998	1.000000	0.71417	0.113000	0.21522	0.687000	0.40016	5.669000	0.68081	2.649000	0.89929	0.655000	0.94253	CAT	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280490.1		+	ENST00000381486.2	Missense_Mutation	SNP	2 : 11742547 - 11742547 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	1051	389
INPP5F	22876	broad.mit.edu	37	10	121510593	121510593	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr10:121510593G>A	ENST00000361976.2	+	2	269	c.103G>A	c.(103-105)Gat>Aat	p.D35N	INPP5F_ENST00000369083.3_Missense_Mutation_p.D35N	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	35							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TTTAGCTACTGATCTACTTCT	0.328		NA									OREG0020583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	173	178			NA	NA	10		NA											NA				121510593		2203	4300	6503	SO:0001583	missense			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825	22876	22876			17054	protein-coding gene	gene with protein product		609389			NA	10231032, 11274189	Standard	NM_014937	NM_014937	NA	Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.103G>A	10.37:g.121510593G>A	ENSP00000354519:p.Asp35Asn	1512	D3DRD1|Q2T9J4|Q5W136|Q6NVY2|Q86U97|Q9H3D9|Q9NT51	37	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981610	0.93044	.	.	ENSG00000198825	ENST00000361976;ENST00000369083	T;T	0.58797	0.81;0.31	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.74520	0.3727	L	0.59436	1.845	0.80722	D	1	D;D	0.67145	0.988;0.996	P;D	0.79784	0.815;0.993	T	0.73395	-0.3996	10	0.59425	D	0.04	-30.4133	19.4436	0.94836	0.0:0.0:1.0:0.0	.	35;35	Q9Y2H2;Q9Y2H2-3	SAC2_HUMAN;.	N	35	ENSP00000354519:D35N;ENSP00000358079:D35N	ENSP00000354519:D35N	D	+	1	0	INPP5F	121500583	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	7.483000	0.81158	2.894000	0.99253	0.591000	0.81541	GAT	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050679.1		+	ENST00000361976.2	Missense_Mutation	SNP	10 : 121510593 - 121510593 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	404	98
ITGAL	3683	broad.mit.edu	37	16	30505643	30505643	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:30505643G>A	ENST00000356798.6	+	12	1504	c.1324G>A	c.(1324-1326)Gga>Aga	p.G442R	ITGAL_ENST00000358164.5_Missense_Mutation_p.G359R|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	442					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCCACAGGGCGGAGGACACTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(110;1462 1641 3311 33990 49495)							NA				0													44	44	44			NA	NA	16		NA											NA				30505643		2197	4300	6497	SO:0001583	missense				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844	NA	3683		CD molecules, Integrins	6148	protein-coding gene	gene with protein product		153370		CD11A	NA	3284962	Standard		NM_002209	NA	Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1324G>A	16.37:g.30505643G>A	ENSP00000349252:p.Gly442Arg	NA	O43746|Q45H73|Q9UBC8	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671567	0.29693	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.10860	2.83;2.83	5.67	-11.3	0.00108	.	2.121790	0.01509	N	0.017858	T	0.07007	0.0178	L	0.31157	0.91	0.09310	N	1	B;B	0.16802	0.015;0.019	B;B	0.11329	0.004;0.006	T	0.09079	-1.0691	10	0.25751	T	0.34	.	9.7973	0.40742	0.0953:0.1684:0.6527:0.0836	.	359;442	Q96HB1;P20701	.;ITAL_HUMAN	R	442;359	ENSP00000349252:G442R;ENSP00000350886:G359R	ENSP00000349252:G442R	G	+	1	0	ITGAL	30413144	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.357000	0.07651	-2.335000	0.00629	-1.012000	0.02466	GGA	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434508.2		+	ENST00000356798.6	Missense_Mutation	SNP	16 : 30505643 - 30505643 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	365	161
KCNA5	3741	broad.mit.edu	37	12	5155075	5155075	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr12:5155075G>A	ENST00000252321.3	+	1	1991	c.1762G>A	c.(1762-1764)Gtc>Atc	p.V588I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	588						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GAAGTGTAACGTCAAGGCCAA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	39	39			NA	NA	12		NA											NA				5155075		2203	4300	6503	SO:0001583	missense			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037	3741	3741		Potassium channels, Voltage-gated ion channels / Potassium channels	6224	protein-coding gene	gene with protein product		176267			NA	16382104	Standard	NM_002234	NM_002234	NA	Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1762G>A	12.37:g.5155075G>A	ENSP00000252321:p.Val588Ile	NA	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	37	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	7.036	0.561517	0.13498	.	.	ENSG00000130037	ENST00000252321	D	0.97279	-4.32	5.5	3.64	0.41730	.	0.104471	0.38492	U	0.001664	D	0.87665	0.6234	N	0.01352	-0.895	0.21445	N	0.999687	B	0.06786	0.001	B	0.04013	0.001	T	0.78513	-0.2175	10	0.24483	T	0.36	.	9.733	0.40372	0.2849:0.5814:0.1337:0.0	.	588	P22460	KCNA5_HUMAN	I	588	ENSP00000252321:V588I	ENSP00000252321:V588I	V	+	1	0	KCNA5	5025336	0.990000	0.36364	1.000000	0.80357	0.936000	0.57629	0.640000	0.24705	0.668000	0.31126	-0.311000	0.09066	GTC	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398925.2		+	ENST00000252321.3	Missense_Mutation	SNP	12 : 5155075 - 5155075 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	235	52
KIF1B	23095	broad.mit.edu	37	1	10425167	10425167	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:10425167G>C	ENST00000377081.1	+	41	4455	c.4376G>C	c.(4375-4377)aGa>aCa	p.R1459T	KIF1B_ENST00000263934.6_Missense_Mutation_p.R1413T|KIF1B_ENST00000377086.1_Missense_Mutation_p.R1459T			O60333	KIF1B_HUMAN	kinesin family member 1B	1459					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GGTATGCAGAGAAGGAGAAGA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	48	47			NA	NA	1		NA											NA				10425167		2203	4300	6503	SO:0001583	missense			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523	23095	23095		Kinesins, Pleckstrin homology (PH) domain containing	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2	NA	11389829, 10762626	Standard		NM_015074	NA	Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377081.1:c.4376G>C	1.37:g.10425167G>C	ENSP00000366284:p.Arg1459Thr	NA	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	37		.	.	.	.	.	.	.	.	.	.	G	28.4	4.919984	0.92249	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.77620	-1.01;-1.11;-1.11	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.87196	0.6117	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.991;1.0;0.981	D;D;D;D;D;D	0.85130	0.997;0.996;0.996;0.992;0.997;0.943	D	0.88273	0.2931	10	0.87932	D	0	.	18.9755	0.92735	0.0:0.0:1.0:0.0	.	1445;1419;1459;1433;1459;1413	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	T	1459;1413;1459;1459	ENSP00000263934:R1413T;ENSP00000366290:R1459T;ENSP00000366284:R1459T	ENSP00000263934:R1413T	R	+	2	0	KIF1B	10347754	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.458000	0.83093	0.650000	0.86243	AGA	KIF1B-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000005106.1		+	ENST00000377081.1	Missense_Mutation	SNP	1 : 10425167 - 10425167 C PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	384	50
KIF1B	23095	broad.mit.edu	37	1	10425187	10425187	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:10425187G>C	ENST00000377081.1	+	41	4475	c.4396G>C	c.(4396-4398)Gat>Cat	p.D1466H	KIF1B_ENST00000263934.6_Missense_Mutation_p.D1420H|KIF1B_ENST00000377086.1_Missense_Mutation_p.D1466H			O60333	KIF1B_HUMAN	kinesin family member 1B	1466					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAAAATCTTAGATACGTCAGT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	55	54			NA	NA	1		NA											NA				10425187		2203	4300	6503	SO:0001583	missense			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523	23095	23095		Kinesins, Pleckstrin homology (PH) domain containing	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2	NA	11389829, 10762626	Standard		NM_015074	NA	Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377081.1:c.4396G>C	1.37:g.10425187G>C	ENSP00000366284:p.Asp1466His	NA	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	37		.	.	.	.	.	.	.	.	.	.	G	27.4	4.828534	0.90955	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.80393	-1.27;-1.36;-1.37	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.89846	0.6833	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.996	D	0.90856	0.4735	10	0.87932	D	0	.	18.9755	0.92735	0.0:0.0:1.0:0.0	.	1452;1426;1466;1440;1466;1420	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	H	1466;1420;1466;1466	ENSP00000263934:D1420H;ENSP00000366290:D1466H;ENSP00000366284:D1466H	ENSP00000263934:D1420H	D	+	1	0	KIF1B	10347774	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	9.869000	0.99810	2.458000	0.83093	0.650000	0.86243	GAT	KIF1B-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000005106.1		+	ENST00000377081.1	Missense_Mutation	SNP	1 : 10425187 - 10425187 C PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	444	66
KIF1B	23095	broad.mit.edu	37	1	10425500	10425500	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:10425500G>A	ENST00000377081.1	+	42	4625	c.4546G>A	c.(4546-4548)Gag>Aag	p.E1516K	KIF1B_ENST00000263934.6_Missense_Mutation_p.E1470K|KIF1B_ENST00000377086.1_Missense_Mutation_p.E1516K			O60333	KIF1B_HUMAN	kinesin family member 1B	1516					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCTGCTGCGTGAGAGACTTGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	73	74			NA	NA	1		NA											NA				10425500		2203	4300	6503	SO:0001583	missense			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523	23095	23095		Kinesins, Pleckstrin homology (PH) domain containing	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2	NA	11389829, 10762626	Standard		NM_015074	NA	Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377081.1:c.4546G>A	1.37:g.10425500G>A	ENSP00000366284:p.Glu1516Lys	NA	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	37		.	.	.	.	.	.	.	.	.	.	G	25.9	4.685715	0.88639	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.74106	-0.74;-0.81;-0.81	5.48	5.48	0.80851	.	0.109676	0.64402	D	0.000010	D	0.84880	0.5570	M	0.67397	2.05	0.80722	D	1	P;P;P;D;P;B	0.65815	0.627;0.954;0.485;0.995;0.856;0.241	B;P;B;D;B;B	0.67548	0.242;0.541;0.146;0.952;0.193;0.051	D	0.83946	0.0314	10	0.42905	T	0.14	.	19.3772	0.94517	0.0:0.0:1.0:0.0	.	1502;1476;1516;1490;1516;1470	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	K	1516;1470;1516;1516	ENSP00000263934:E1470K;ENSP00000366290:E1516K;ENSP00000366284:E1516K	ENSP00000263934:E1470K	E	+	1	0	KIF1B	10348087	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.861000	0.99562	2.560000	0.86352	0.650000	0.86243	GAG	KIF1B-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000005106.1		+	ENST00000377081.1	Missense_Mutation	SNP	1 : 10425500 - 10425500 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	396	72
KMT2E	55904	broad.mit.edu	37	7	104730715	104730715	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr7:104730715A>G	ENST00000311117.3	+	14	2163	c.1618A>G	c.(1618-1620)Aat>Gat	p.N540D	KMT2E_ENST00000476671.1_Missense_Mutation_p.N540D|KMT2E_ENST00000334877.4_Missense_Mutation_p.N540D|KMT2E_ENST00000257745.4_Missense_Mutation_p.N540D|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1			lysine (K)-specific methyltransferase 2E	NA											NA						AGTATCAAATAATCAGGTACT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	51	50			NA	NA	7		NA											NA				104730715		2203	4298	6501	SO:0001583	missense			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483	55904	55904		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	18541	protein-coding gene	gene with protein product		608444	myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)	MLL5	NA	9218106, 7672722	Standard		XM_005250493	NA	Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1618A>G	7.37:g.104730715A>G	ENSP00000312379:p.Asn540Asp	NA		37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172817	0.78452	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000257745;ENST00000476671	D;D;D;D	0.93906	-2.88;-2.49;-2.88;-3.31	5.83	5.83	0.93111	.	0.093701	0.64402	D	0.000001	D	0.94311	0.8172	L	0.42245	1.32	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.78314	0.985;0.991	D	0.91668	0.5348	10	0.09084	T	0.74	.	16.2127	0.82178	1.0:0.0:0.0:0.0	.	540;540	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	D	540	ENSP00000312379:N540D;ENSP00000335599:N540D;ENSP00000257745:N540D;ENSP00000417888:N540D	ENSP00000257745:N540D	N	+	1	0	MLL5	104517951	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.791000	0.91849	2.236000	0.73375	0.533000	0.62120	AAT	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348697.1		+	ENST00000311117.3	Missense_Mutation	SNP	7 : 104730715 - 104730715 G PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	182	18
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	GRCh37	CM076251	KRAS	M	rs121913530						93	83	86			NA	NA	12		NA											NA				25398285		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.34G>C	12.37:g.25398285C>G	ENSP00000308495:p.Gly12Arg	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	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 : 25398285 - 25398285 G PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	139	39
KRT4	3851	broad.mit.edu	37	12	53202606	53202606	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr12:53202606C>G	ENST00000551956.1	-	5	1355	c.863G>C	c.(862-864)aGc>aCc	p.S288T	KRT4_ENST00000293774.4_Missense_Mutation_p.S362T|KRT4_ENST00000458244.2_Missense_Mutation_p.S268T			B4DRS2	B4DRS2_HUMAN	keratin 4	288						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GGACGTGTCGCTGACATGGGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(190;284 2995 41444 45903)							NA				0													87	80	83			NA	NA	12		NA											NA				53202606		2203	4300	6503	SO:0001583	missense				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477	3851	3851		-, Intermediate filaments type II, keratins (basic)	6441	protein-coding gene	gene with protein product	cytokeratin 4, keratin, type II cytoskeletal 4	123940		CYK4	NA	16831889	Standard	NM_002272	NM_002272	NA	Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.863G>C	12.37:g.53202606C>G	ENSP00000448220:p.Ser288Thr	NA		37	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	C	10.42	1.346494	0.24426	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;T;D	0.88975	-2.45;-1.16;-2.45	5.75	1.28	0.21552	Filament (1);	0.601484	0.14726	N	0.302055	D	0.93109	0.7806	M	0.83012	2.62	0.09310	N	1	P	0.46277	0.875	P	0.49953	0.627	D	0.88388	0.3006	10	0.87932	D	0	.	22.2785	0.99969	0.0:0.2887:0.7113:0.0	.	302	P19013	K2C4_HUMAN	T	288;362;268	ENSP00000448220:S288T;ENSP00000293774:S362T;ENSP00000387904:S268T	ENSP00000293774:S362T	S	-	2	0	KRT4	51488873	0.954000	0.32549	0.007000	0.13788	0.290000	0.27261	1.644000	0.37228	0.329000	0.23460	0.655000	0.94253	AGC	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405931.1		-	ENST00000551956.1	Missense_Mutation	SNP	12 : 53202606 - 53202606 G PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	533	104
LCE1E	353135	broad.mit.edu	37	1	152759809	152759809	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:152759809C>T	ENST00000368770.3	+	2	87	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	LCE1E_ENST00000368771.1_Missense_Mutation_p.P12S	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	12	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGTGCCAGCCCCctcccaa	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	SER/PRO	0,4406		0,0,2203	108	116	113		34	0.8	1	1		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	LCE1E	NM_178353.1	74	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	12/119	152759809	1,13005	2203	4300	6503	SO:0001583	missense			BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226	353135	353135		Late cornified envelopes	29466	protein-coding gene	gene with protein product		612607			NA	11698679	Standard	NM_178353	NM_178353	NA	Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.34C>T	1.37:g.152759809C>T	ENSP00000357759:p.Pro12Ser	NA	D3DV30	37	CCDS1024.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308187	0.23821	0.0	1.16E-4	ENSG00000186226	ENST00000368771;ENST00000368770	T;T	0.04654	3.58;3.58	4.06	0.748	0.18376	.	0.257811	0.20594	N	0.089291	T	0.02418	0.0074	M	0.77820	2.39	0.22842	N	0.998663	B	0.33612	0.419	B	0.30646	0.118	T	0.30446	-0.9978	10	0.87932	D	0	.	7.0434	0.25033	0.185:0.4545:0.3605:0.0	.	12	Q5T753	LCE1E_HUMAN	S	12	ENSP00000357760:P12S;ENSP00000357759:P12S	ENSP00000357759:P12S	P	+	1	0	LCE1E	151026433	0.240000	0.23847	0.989000	0.46669	0.997000	0.91878	-0.252000	0.08806	0.432000	0.26286	0.514000	0.50259	CCC	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034525.1		+	ENST00000368770.3	Missense_Mutation	SNP	1 : 152759809 - 152759809 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	1141	25
LCE1E	353135	broad.mit.edu	37	1	152759802	152759802	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:152759802G>T	ENST00000368770.3	+	2	80	c.27G>T	c.(25-27)caG>caT	p.Q9H	LCE1E_ENST00000368771.1_Missense_Mutation_p.Q9H	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	9	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGCAGCAGTGCCAGCCCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	123	120			NA	NA	1		NA											NA				152759802		2203	4300	6503	SO:0001583	missense			BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226	353135	353135		Late cornified envelopes	29466	protein-coding gene	gene with protein product		612607			NA	11698679	Standard	NM_178353	NM_178353	NA	Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.27G>T	1.37:g.152759802G>T	ENSP00000357759:p.Gln9His	NA	D3DV30	37	CCDS1024.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366615	0.24771	.	.	ENSG00000186226	ENST00000368771;ENST00000368770	T;T	0.05786	3.39;3.39	4.06	3.14	0.36123	.	0.000000	0.31859	N	0.006957	T	0.08313	0.0207	M	0.87682	2.9	0.24548	N	0.994037	P	0.40794	0.729	P	0.47705	0.555	T	0.02950	-1.1090	10	0.87932	D	0	.	6.9793	0.24694	0.1244:0.0:0.8756:0.0	.	9	Q5T753	LCE1E_HUMAN	H	9	ENSP00000357760:Q9H;ENSP00000357759:Q9H	ENSP00000357759:Q9H	Q	+	3	2	LCE1E	151026426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.234000	0.32660	2.237000	0.73441	0.514000	0.50259	CAG	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034525.1		+	ENST00000368770.3	Missense_Mutation	SNP	1 : 152759802 - 152759802 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	1221	27
LMTK3	114783	broad.mit.edu	37	19	49000674	49000674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr19:49000674G>A	ENST00000600059.1	-	11	3879	c.3652C>T	c.(3652-3654)Cag>Tag	p.Q1218*	LMTK3_ENST00000270238.3_Nonsense_Mutation_p.Q1247*					lemur tyrosine kinase 3	NA										breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTGTTCCCCTGAGGGGGTCCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	54	51			NA	NA	19		NA											NA				49000674		2088	4200	6288	SO:0001587	stop_gained			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235	114783	114783			19295	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 101				NA		Standard	NM_052895	NM_001080434	NA	Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.3652C>T	19.37:g.49000674G>A	ENSP00000472020:p.Gln1218*	NA		37		.	.	.	.	.	.	.	.	.	.	G	42	9.180309	0.99091	.	.	ENSG00000142235	ENST00000270238	.	.	.	3.8	3.8	0.43715	.	0.399027	0.19919	N	0.103125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	11.3704	0.49696	0.0:0.0:1.0:0.0	.	.	.	.	X	1247	.	ENSP00000270238:Q1247X	Q	-	1	0	LMTK3	53692486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.540000	0.45727	2.134000	0.65973	0.563000	0.77884	CAG	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000466137.1		-	ENST00000600059.1	Nonsense_Mutation	SNP	19 : 49000674 - 49000674 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	572	105
MARK1	4139	broad.mit.edu	37	1	220752846	220752846	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:220752846A>C	ENST00000366918.4	+	2	799	c.202A>C	c.(202-204)Aag>Cag	p.K68Q	MARK1_ENST00000485104.1_3'UTR|MARK1_ENST00000366917.4_Missense_Mutation_p.K68Q|MARK1_ENST00000402574.1_5'UTR			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	68	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AACAATAGGGAAGGGAAATTT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	89	90			NA	NA	1		NA											NA				220752846		2203	4300	6503	SO:0001583	missense			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141	4139	4139			6896	protein-coding gene	gene with protein product		606511			NA	9108484	Standard		NM_018650	NA	Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366918.4:c.202A>C	1.37:g.220752846A>C	ENSP00000355885:p.Lys68Gln	NA	D3DTB0|D3DTB1|Q2HIY1|Q5VTF9|Q5VTG0|Q96SW9|Q9P251	37		.	.	.	.	.	.	.	.	.	.	A	29.7	5.032418	0.93575	.	.	ENSG00000116141	ENST00000366918;ENST00000366917	T;T	0.65364	1.78;-0.15	5.76	5.76	0.90799	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64516	0.2605	N	0.16567	0.415	0.80722	D	1	P;D;D	0.69078	0.895;0.985;0.997	B;P;P	0.61592	0.313;0.681;0.891	T	0.70622	-0.4821	10	0.87932	D	0	.	16.0789	0.80985	1.0:0.0:0.0:0.0	.	68;68;68	B4DIB3;Q9P0L2;Q9P0L2-3	.;MARK1_HUMAN;.	Q	68	ENSP00000355885:K68Q;ENSP00000355884:K68Q	ENSP00000355884:K68Q	K	+	1	0	MARK1	218819469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.192000	0.70111	0.460000	0.39030	AAG	MARK1-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000090898.2		+	ENST00000366918.4	Missense_Mutation	SNP	1 : 220752846 - 220752846 C PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	578	153
MAST4	375449	broad.mit.edu	37	5	66461307	66461307	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr5:66461307G>C	ENST00000403625.2	+	29	6595	c.6300G>C	c.(6298-6300)gaG>gaC	p.E2100D	MAST4_ENST00000261569.7_Missense_Mutation_p.E1906D|MAST4_ENST00000404260.3_Missense_Mutation_p.E2103D|MAST4_ENST00000403666.1_Missense_Mutation_p.E1911D|MAST4_ENST00000405643.1_Missense_Mutation_p.E1921D	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2103						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTGAGAGTGAGAAGAGTGAAA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	53	50			NA	NA	5		NA											NA				66461307		1994	4164	6158	SO:0001583	missense			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020	375449	375449			19037	protein-coding gene	gene with protein product					NA	9205841	Standard		NM_198828	NA	Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6300G>C	5.37:g.66461307G>C	ENSP00000385727:p.Glu2100Asp	NA	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	37	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.68|10.68	1.417754|1.417754	0.25552|0.25552	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|T	0.65732|0.04360	-0.15;-0.15;-0.17;-0.17;-0.15|3.64	4.58|4.58	0.327|0.327	0.15913|0.15913	.|.	1.030320|1.030320	0.07702|0.07702	N|N	0.940481|0.940481	T|T	0.03477|0.03477	0.0100|0.0100	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.47911|0.47911	-0.9080|-0.9080	10|8	0.06099|0.30078	T|T	0.92|0.28	-0.9085|-0.9085	3.6607|3.6607	0.08237|0.08237	0.0968:0.4337:0.2813:0.1881|0.0968:0.4337:0.2813:0.1881	.|.	2103;1911|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	D|Q	2103;2100;1911;1921;1921;1906|1157	ENSP00000385048:E2103D;ENSP00000385727:E2100D;ENSP00000384313:E1911D;ENSP00000384099:E1921D;ENSP00000261569:E1906D|ENSP00000400551:E1157Q	ENSP00000261569:E1906D|ENSP00000400551:E1157Q	E|E	+|+	3|1	2|0	MAST4|MAST4	66497063|66497063	0.000000|0.000000	0.05858|0.05858	0.017000|0.017000	0.16124|0.16124	0.605000|0.605000	0.37080|0.37080	-0.771000|-0.771000	0.04699|0.04699	0.151000|0.151000	0.19162|0.19162	-0.145000|-0.145000	0.13849|0.13849	GAG|GAA	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326324.2		+	ENST00000403625.2	Missense_Mutation	SNP	5 : 66461307 - 66461307 C PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	473	93
MBTPS1	8720	broad.mit.edu	37	16	84120998	84120998	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:84120998T>C	ENST00000343411.3	-	9	1594	c.1099A>G	c.(1099-1101)Atc>Gtc	p.I367V	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	367	Serine protease.				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAGCGGGCGATGTTATCTTCA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	103	105			NA	NA	16		NA											NA				84120998		2200	4300	6500	SO:0001583	missense			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943	8720	8720			15456	protein-coding gene	gene with protein product		603355	membrane-bound transcription factor protease, site 1		NA	9809072, 10944850	Standard	NM_003791	NM_003791	NA	Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1099A>G	16.37:g.84120998T>C	ENSP00000344223:p.Ile367Val	NA	Q24JQ2|Q9UF67	37	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.997441	0.54147	.	.	ENSG00000140943	ENST00000343411	T	0.38887	1.11	5.26	5.26	0.73747	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.36441	0.0967	N	0.12569	0.235	0.80722	D	1	B	0.34103	0.437	P	0.44422	0.449	T	0.36456	-0.9747	10	0.44086	T	0.13	-27.4813	15.4764	0.75485	0.0:0.0:0.0:1.0	.	367	Q14703	MBTP1_HUMAN	V	367	ENSP00000344223:I367V	ENSP00000344223:I367V	I	-	1	0	MBTPS1	82678499	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.972000	0.88022	2.113000	0.64589	0.460000	0.39030	ATC	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269080.2		-	ENST00000343411.3	Missense_Mutation	SNP	16 : 84120998 - 84120998 C PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	626	125
MDGA2	161357	broad.mit.edu	37	14	47504469	47504469	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr14:47504469A>T	ENST00000426342.1	-	8	1416	c.670T>A	c.(670-672)Ttg>Atg	p.L224M	MDGA2_ENST00000357362.3_Missense_Mutation_p.L224M|MDGA2_ENST00000399232.2_Missense_Mutation_p.L453M|MDGA2_ENST00000439988.3_Missense_Mutation_p.L522M	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	453	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTGGTGACCAATGGTGATTTT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	142	150			NA	NA	14		NA											NA				47504469		1872	4104	5976	SO:0001583	missense			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915	161357	161357		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	19835	protein-coding gene	gene with protein product		611128	MAM domain containing 1	MAMDC1	NA	15019943	Standard	NM_182830	NM_001113498	NA	Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000426342.1:c.670T>A	14.37:g.47504469A>T	ENSP00000405456:p.Leu224Met	NA		37	CCDS41948.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.99|10.99	1.506599|1.506599	0.26949|0.26949	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000554762|ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	.|T;T;T;T	.|0.68624	.|-0.34;-0.34;-0.34;-0.34	5.52|5.52	1.83|1.83	0.25207|0.25207	.|Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.154328	.|0.28470	.|U	.|0.015227	T|T	0.50171|0.50171	0.1600|0.1600	L|L	0.33710|0.33710	1.025|1.025	0.80722|0.80722	D|D	1|1	.|B;B	.|0.33528	.|0.234;0.416	.|B;B	.|0.35114	.|0.087;0.196	T|T	0.37079|0.37079	-0.9721|-0.9721	5|10	.|0.52906	.|T	.|0.07	.|.	4.4546|4.4546	0.11637|0.11637	0.5216:0.0:0.3346:0.1439|0.5216:0.0:0.3346:0.1439	.|.	.|224;453	.|F6W3S7;Q7Z553	.|.;MDGA2_HUMAN	N|M	227|453;224;522;224	.|ENSP00000400011:L453M;ENSP00000405456:L224M;ENSP00000382178:L522M;ENSP00000349925:L224M	.|ENSP00000349925:L224M	I|L	-|-	2|1	0|2	MDGA2|MDGA2	46574219|46574219	0.995000|0.995000	0.38212|0.38212	0.999000|0.999000	0.59377|0.59377	0.971000|0.971000	0.66376|0.66376	1.154000|1.154000	0.31688|0.31688	0.068000|0.068000	0.16574|0.16574	-0.512000|-0.512000	0.04463|0.04463	ATT|TTG	MDGA2-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277084.2		-	ENST00000426342.1	Missense_Mutation	SNP	14 : 47504469 - 47504469 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	478	10
METTL17	64745	broad.mit.edu	37	14	21458225	21458225	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr14:21458225C>T	ENST00000339374.6	+	1	297	c.64C>T	c.(64-66)Ccc>Tcc	p.P22S	METTL17_ENST00000555177.1_3'UTR|METTL17_ENST00000556670.2_Missense_Mutation_p.P22S|METTL17_ENST00000382985.4_Missense_Mutation_p.P22S	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	22					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TGGAGTGGCTCCCCAGGCCCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	65	62			NA	NA	14		NA											NA				21458225		2203	4300	6503	SO:0001583	missense			AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792	64745	64745			19280	protein-coding gene	gene with protein product			methyltransferase 11 domain containing 1	METT11D1	NA	11278769	Standard	NM_022734	XM_006720235	NA	Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.64C>T	14.37:g.21458225C>T	ENSP00000343041:p.Pro22Ser	NA	Q9BSH1|Q9BZH2|Q9BZH3	37	CCDS9562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.38|16.38	3.107017|3.107017	0.56291|0.56291	.|.	.|.	ENSG00000165792|ENSG00000165792	ENST00000339374;ENST00000382985|ENST00000536700;ENST00000554283	T;T|.	0.29655|.	1.62;1.56|.	6.07|6.07	2.21|2.21	0.28008|0.28008	.|.	0.791149|.	0.11842|.	N|.	0.524220|.	T|T	0.24586|0.24586	0.0596|0.0596	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.23806|.	0.091;0.006;0.003;0.006|.	B;B;B;B|.	0.17433|.	0.018;0.012;0.003;0.007|.	T|T	0.26430|0.26430	-1.0103|-1.0103	10|6	0.18710|0.87932	T|D	0.47|0	.|.	3.0434|3.0434	0.06146|0.06146	0.1452:0.5622:0.1401:0.1526|0.1452:0.5622:0.1401:0.1526	.|.	22;22;22;22|.	B4E298;Q9H7H0-3;Q9H7H0;Q9H7H0-2|.	.;.;MET17_HUMAN;.|.	S|F	22|9	ENSP00000343041:P22S;ENSP00000372445:P22S|.	ENSP00000343041:P22S|ENSP00000440779:S9F	P|S	+|+	1|2	0|0	METTL17|METTL17	20528065|20528065	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.024000|0.024000	0.10985|0.10985	-0.224000|-0.224000	0.09164|0.09164	0.141000|0.141000	0.18875|0.18875	0.655000|0.655000	0.94253|0.94253	CCC|TCC	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073804.4		+	ENST00000339374.6	Missense_Mutation	SNP	14 : 21458225 - 21458225 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	663	121
MRPS2	51116	broad.mit.edu	37	9	138393703	138393703	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr9:138393703G>C	ENST00000371785.1	+	4	392	c.183G>C	c.(181-183)aaG>aaC	p.K61N	MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Missense_Mutation_p.K61N			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	61					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		TCAACGACAAGATTTTGAATG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	100	103			NA	NA	9		NA											NA				138393703		2203	4300	6503	SO:0001583	missense			AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140	51116	51116		Mitochondrial ribosomal proteins / small subunits	14495	protein-coding gene	gene with protein product		611971			NA		Standard		NM_016034	NA	Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.183G>C	9.37:g.138393703G>C	ENSP00000360850:p.Lys61Asn	NA	Q5T899|Q9BSQ4	37	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266862	0.40095	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	T;T;T	0.35236	1.81;1.81;1.32	4.7	0.553	0.17235	.	0.218719	0.45361	D	0.000376	T	0.26011	0.0634	L	0.57536	1.79	0.09310	N	1	P	0.44429	0.835	B	0.38378	0.272	T	0.18429	-1.0337	10	0.49607	T	0.09	-5.9199	2.9054	0.05719	0.2189:0.1206:0.5366:0.1239	.	61	Q9Y399	RT02_HUMAN	N	61;61;75	ENSP00000360850:K61N;ENSP00000241600:K61N;ENSP00000400082:K75N	ENSP00000241600:K61N	K	+	3	2	MRPS2	137533524	0.901000	0.30685	0.000000	0.03702	0.160000	0.22226	1.674000	0.37544	-0.203000	0.10251	0.655000	0.94253	AAG	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054998.1		+	ENST00000371785.1	Missense_Mutation	SNP	9 : 138393703 - 138393703 C PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	736	134
MXRA7	439921	broad.mit.edu	37	17	74681156	74681156	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr17:74681156C>G	ENST00000355797.3	-	3	506	c.498G>C	c.(496-498)caG>caC	p.Q166H	MXRA7_ENST00000589082.1_Missense_Mutation_p.Q11H|MXRA7_ENST00000449428.2_Missense_Mutation_p.Q166H|MXRA7_ENST00000588114.1_Missense_Mutation_p.Q11H|MXRA7_ENST00000592148.1_Missense_Mutation_p.Q209H|MXRA7_ENST00000585519.1_Missense_Mutation_p.Q11H|MXRA7_ENST00000375036.2_Missense_Mutation_p.Q166H	NM_001008528.1	NP_001008528.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7	166						integral to membrane				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						CAGCCTACCTCTGCTCCTCCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	133	136			NA	NA	17		NA											NA				74681156		2203	4300	6503	SO:0001583	missense			BC053983	CCDS32745.1, CCDS32746.1, CCDS45786.1	17q25.1	2007-08-01				ENSG00000182534	439921	439921			7541	protein-coding gene	gene with protein product					NA		Standard	NM_001008529	XM_005257382	NA	Approved	FLJ46603, TMAP1, PS1TP1	uc002jsk.1	P84157		ENST00000355797.3:c.498G>C	17.37:g.74681156C>G	ENSP00000348050:p.Gln166His	NA	Q0P5W3	37	CCDS32745.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573895	0.28092	.	.	ENSG00000182534	ENST00000355797;ENST00000449428;ENST00000375036;ENST00000392488	T;T;T	0.35236	1.32;1.32;1.32	5.27	1.74	0.24563	.	0.144210	0.46758	N	0.000267	T	0.21427	0.0516	N	0.25647	0.755	0.22629	N	0.998912	B;B;B	0.25390	0.125;0.063;0.063	B;B;B	0.26202	0.067;0.037;0.037	T	0.13150	-1.0520	10	0.49607	T	0.09	-18.8343	4.6255	0.12476	0.0:0.5361:0.1835:0.2804	.	166;166;166	P84157-2;P84157-3;P84157	.;.;MXRA7_HUMAN	H	166	ENSP00000348050:Q166H;ENSP00000391466:Q166H;ENSP00000364176:Q166H	ENSP00000348050:Q166H	Q	-	3	2	MXRA7	72192751	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	0.740000	0.26188	0.590000	0.29694	0.462000	0.41574	CAG	MXRA7-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450983.1		-	ENST00000355797.3	Missense_Mutation	SNP	17 : 74681156 - 74681156 G PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	1161	276
NT5C3B	115024	broad.mit.edu	37	17	39983731	39983731	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr17:39983731C>T	ENST00000521789.1	-	6	535				NT5C3B_ENST00000435506.2_Missense_Mutation_p.D239N|NT5C3B_ENST00000269534.8_Missense_Mutation_p.D231N					5'-nucleotidase, cytosolic IIIB	NA											NA						GGAACCCCATCGGCCATGGTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	156	157			NA	NA	17		NA											NA				39983731		2203	4300	6503	SO:0001627	intron_variant				CCDS11410.1, CCDS11410.2	17q21.2	2013-01-31	2013-01-31	2013-01-31	ENSG00000141698	ENSG00000141698	115024	115024	3.1.3.5		28300	protein-coding gene	gene with protein product			5'-nucleotidase, cytosolic III-like	NT5C3L	NA	23223233	Standard	NM_052935	NM_052935	NA	Approved	MGC20781	uc021txo.1	Q969T7	OTTHUMG00000133499	ENST00000521789.1:c.468+1310G>A	17.37:g.39983731C>T		NA		37		.	.	.	.	.	.	.	.	.	.	C	31	5.097530	0.94197	.	.	ENSG00000141698	ENST00000269534;ENST00000393911;ENST00000435506;ENST00000415460	D;D;D	0.83250	-1.7;-1.7;-1.7	5.28	4.32	0.51571	HAD-like domain (2);	0.048773	0.85682	D	0.000000	D	0.90256	0.6953	M	0.88310	2.945	0.58432	D	0.999999	D;D	0.63046	0.992;0.992	P;P	0.60173	0.87;0.87	D	0.89965	0.4089	10	0.31617	T	0.26	-17.3919	13.5393	0.61664	0.0:0.9246:0.0:0.0754	.	239;231	C9JKC4;Q969T7	.;5NT3L_HUMAN	N	231;273;239;209	ENSP00000269534:D231N;ENSP00000389948:D239N;ENSP00000397742:D209N	ENSP00000269534:D231N	D	-	1	0	NT5C3L	37237257	1.000000	0.71417	0.098000	0.21074	0.979000	0.70002	5.867000	0.69597	1.461000	0.47929	0.462000	0.41574	GAT	NT5C3B-017	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000380435.1		-	ENST00000521789.1	Intron	SNP	17 : 39983731 - 39983731 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	1047	188
NXPE4	54827	broad.mit.edu	37	11	114453438	114453438	+	Silent	SNP	G	G	A	rs73557425	by1000genomes	TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:114453438G>A	ENST00000375478.3	-	3	582	c.402C>T	c.(400-402)ggC>ggT	p.G134G	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4	NA											NA						GGAAATCCCCGCCATATTGCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	23,4363		0,23,2170	82	86	85		402,	-10	0.1	11	dbSNP_130	85	1,8587		0,1,4293	no	coding-synonymous,intron	FAM55D	NM_001077639.1,NM_017678.2	,	0,24,6463	AA,AG,GG	NA	0.0116,0.5244,0.185	,	134/545,	114453438	24,12950	2193	4294	6487	SO:0001819	synonymous_variant			AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634	54827	54827			23117	protein-coding gene	gene with protein product			chromosome 11 open reading frame 33, family with sequence similarity 55, member D	C11orf33, FAM55D	NA	20056006	Standard	NM_017678	NM_017678	NA	Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.402C>T	11.37:g.114453438G>A		NA		37	CCDS41718.1																																																																																			NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399179.1		-	ENST00000375478.3	Silent	SNP	11 : 114453438 - 114453438 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	414	107
OR5T3	390154	broad.mit.edu	37	11	56019769	56019769	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:56019769C>T	ENST00000303059.3	+	1	94	c.94C>T	c.(94-96)Cca>Tca	p.P32S		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATACAGGAATCCACTGAAGAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	96	96			NA	NA	11		NA											NA				56019769		2201	4296	6497	SO:0001583	missense			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489	390154	390154		GPCR / Class A : Olfactory receptors	15297	protein-coding gene	gene with protein product					NA		Standard	NM_001004747	NM_001004747	NA	Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.94C>T	11.37:g.56019769C>T	ENSP00000305403:p.Pro32Ser	NA	Q6IFC7	37	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	C	0.416	-0.910669	0.02434	.	.	ENSG00000172489	ENST00000303059	T	0.02197	4.4	4.23	-0.0294	0.13918	.	4.020620	0.00871	U	0.002031	T	0.01222	0.0040	N	0.04705	-0.18	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.41893	-0.9483	10	0.07990	T	0.79	.	2.0557	0.03581	0.156:0.4868:0.1525:0.2047	.	32	Q8NGG3	OR5T3_HUMAN	S	32	ENSP00000305403:P32S	ENSP00000305403:P32S	P	+	1	0	OR5T3	55776345	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.396000	0.07278	0.131000	0.18576	-0.366000	0.07423	CCA	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391599.1		+	ENST00000303059.3	Missense_Mutation	SNP	11 : 56019769 - 56019769 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	450	99
PALMD	54873	broad.mit.edu	37	1	100111897	100111897	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:100111897G>C	ENST00000263174.4	+	1	399	c.24G>C	c.(22-24)aaG>aaC	p.K8N	PALMD_ENST00000605497.1_Missense_Mutation_p.K8N	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	8					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AGCTGGTGAAGGGAAGACTCC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	109	111			NA	NA	1		NA											NA				100111897		2203	4300	6503	SO:0001583	missense			AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260	54873	54873			15846	protein-coding gene	gene with protein product		610182		C1orf11	NA	11478809	Standard	NM_017734	NM_017734	NA	Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.24G>C	1.37:g.100111897G>C	ENSP00000263174:p.Lys8Asn	NA	Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	37	CCDS758.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631881	0.46944	.	.	ENSG00000099260	ENST00000263174	T	0.22945	1.93	5.52	3.66	0.41972	.	0.171232	0.49916	D	0.000127	T	0.23133	0.0559	L	0.59436	1.845	0.53005	D	0.999967	D	0.54047	0.964	P	0.52672	0.706	T	0.02603	-1.1135	10	0.87932	D	0	-11.1216	9.9661	0.41725	0.2732:0.0:0.7268:0.0	.	8	Q9NP74	PALMD_HUMAN	N	8	ENSP00000263174:K8N	ENSP00000263174:K8N	K	+	3	2	PALMD	99884485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.717000	0.47227	0.702000	0.31825	0.561000	0.74099	AAG	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029672.1		+	ENST00000263174.4	Missense_Mutation	SNP	1 : 100111897 - 100111897 C PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	785	114
PCDHGA6	56109	broad.mit.edu	37	5	140754472	140754472	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr5:140754472C>T	ENST00000517434.1	+	1	822	c.822C>T	c.(820-822)caC>caT	p.H274H	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			protocadherin gamma subfamily A, 6	NA										breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGAGTCCACGGGGAAGTAA	0.433		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	5		NA											NA				140754472		1890	4116	6006	SO:0001819	synonymous_variant			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731	56109	56109		Cadherins / Protocadherins : Clustered	8704	other	protocadherin		606293			NA	10380929	Standard	NM_018919	NM_018919	NA	Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.822C>T	5.37:g.140754472C>T		NA		37	CCDS54926.1																																																																																			PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374743.1		+	ENST00000517434.1	Silent	SNP	5 : 140754472 - 140754472 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	250	46
PKD1L1	168507	broad.mit.edu	37	7	47869028	47869028	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr7:47869028C>G	ENST00000289672.2	-	44	6780	c.6730G>C	c.(6730-6732)Gaa>Caa	p.E2244Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2244					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTTACTTTTTCAACCTCGCCT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	76	73			NA	NA	7		NA											NA				47869028		2203	4300	6503	SO:0001583	missense			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683	168507	168507			18053	protein-coding gene	gene with protein product	polycystin-1L1	609721			NA	11863367	Standard	NM_138295	NM_138295	NA	Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6730G>C	7.37:g.47869028C>G	ENSP00000289672:p.Glu2244Gln	NA	Q6UWK1	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247339	0.39697	.	.	ENSG00000158683	ENST00000289672	T	0.20200	2.09	4.11	3.2	0.36748	.	1.614660	0.03691	N	0.247120	T	0.27933	0.0688	L	0.59436	1.845	0.09310	N	1	P	0.51933	0.949	B	0.43331	0.416	T	0.24584	-1.0156	10	0.44086	T	0.13	-3.216	9.4856	0.38928	0.0:0.7832:0.2168:0.0	.	2244	Q8TDX9	PK1L1_HUMAN	Q	2244	ENSP00000289672:E2244Q	ENSP00000289672:E2244Q	E	-	1	0	PKD1L1	47835553	0.006000	0.16342	0.026000	0.17262	0.179000	0.23085	1.491000	0.35583	0.905000	0.36596	0.563000	0.77884	GAA	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340974.1		-	ENST00000289672.2	Missense_Mutation	SNP	7 : 47869028 - 47869028 G PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	528	115
PLEKHH2	130271	broad.mit.edu	37	2	43965587	43965587	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr2:43965587G>C	ENST00000282406.4	+	20	3161	c.3051G>C	c.(3049-3051)caG>caC	p.Q1017H		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1017	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTGAGCTGCAGAATGAAATTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	94	94			NA	NA	2		NA											NA				43965587		2203	4300	6503	SO:0001583	missense			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527	130271	130271		Pleckstrin homology (PH) domain containing	30506	protein-coding gene	gene with protein product		612723			NA		Standard	NM_172069	NM_172069	NA	Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3051G>C	2.37:g.43965587G>C	ENSP00000282406:p.Gln1017His	NA	Q5JPJ6|Q6P4Q1|Q8N3Q3	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516918	0.64634	.	.	ENSG00000152527	ENST00000282406	D	0.91792	-2.91	5.53	3.74	0.42951	MyTH4 domain (3);	0.000000	0.85682	D	0.000000	D	0.95503	0.8539	M	0.82517	2.595	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.94785	0.7957	10	0.87932	D	0	-15.4565	9.9364	0.41554	0.2346:0.0:0.7654:0.0	.	1017;454	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	H	1017	ENSP00000282406:Q1017H	ENSP00000282406:Q1017H	Q	+	3	2	PLEKHH2	43819091	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.416000	0.52707	0.707000	0.31934	0.561000	0.74099	CAG	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250537.1		+	ENST00000282406.4	Missense_Mutation	SNP	2 : 43965587 - 43965587 C PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	808	302
PRIM1	5557	broad.mit.edu	37	12	57144844	57144844	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr12:57144844A>G	ENST00000338193.6	-	2	275	c.239T>C	c.(238-240)aTa>aCa	p.I80T	PRIM1_ENST00000552408.1_5'UTR	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	80					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						TACTGCGCCTATATCAATCTT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	89	94			NA	NA	12		NA											NA				57144844		1815	4068	5883	SO:0001583	missense			BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056	5557	5557			9369	protein-coding gene	gene with protein product		176635			NA	8530050	Standard	NM_000946	NM_000946	NA	Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.239T>C	12.37:g.57144844A>G	ENSP00000350491:p.Ile80Thr	NA		37	CCDS44926.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.350526	0.82132	.	.	ENSG00000198056	ENST00000537418;ENST00000338193;ENST00000550770	T;T	0.55052	0.54;0.6	5.16	5.16	0.70880	.	0.049442	0.85682	D	0.000000	T	0.77532	0.4144	M	0.92880	3.355	0.80722	D	1	D;D	0.65815	0.995;0.971	D;P	0.69142	0.962;0.821	T	0.82989	-0.0183	10	0.59425	D	0.04	-11.0372	14.3283	0.66534	1.0:0.0:0.0:0.0	.	80;80	F8VSB2;P49642	.;PRI1_HUMAN	T	80;80;83	ENSP00000350491:I80T;ENSP00000450185:I83T	ENSP00000350491:I80T	I	-	2	0	PRIM1	55431111	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	8.801000	0.91905	2.100000	0.63781	0.454000	0.30748	ATA	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406956.1		-	ENST00000338193.6	Missense_Mutation	SNP	12 : 57144844 - 57144844 G PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	88	13
RBBP8	5932	broad.mit.edu	37	18	20516852	20516852	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr18:20516852C>G	ENST00000399722.2	+	2	389	c.38C>G	c.(37-39)tCt>tGt	p.S13C	RBBP8_ENST00000327155.5_Missense_Mutation_p.S13C|RBBP8_ENST00000399725.2_Missense_Mutation_p.S13C|RBBP8_ENST00000360790.5_Missense_Mutation_p.S13C	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	13					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AGCCCTAACTCTGCAGATACA	0.358		NA						Homologous recombination						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	154	154			NA	NA	18		NA											NA				20516852		2203	4300	6503	SO:0001583	missense			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773	5932	5932			9891	protein-coding gene	gene with protein product	CTBP-interacting protein	604124	retinoblastoma-binding protein 8, Seckel syndrome 2	SCKL2	NA	9721205, 17965729, 21998596	Standard	NM_203291	NM_002894	NA	Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.38C>G	18.37:g.20516852C>G	ENSP00000382628:p.Ser13Cys	NA	O75371	37	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322656	0.81580	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.45276	1.16;0.9;1.16;0.93;1.16	5.42	5.42	0.78866	.	0.144596	0.48286	D	0.000188	T	0.64450	0.2599	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.67150	-0.5743	10	0.87932	D	0	-13.2429	17.4189	0.87508	0.0:1.0:0.0:0.0	.	13;13;13	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	C	13	ENSP00000323050:S13C;ENSP00000382630:S13C;ENSP00000382628:S13C;ENSP00000382627:S13C;ENSP00000354024:S13C	ENSP00000323050:S13C	S	+	2	0	RBBP8	18770850	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.710000	0.54860	2.525000	0.85131	0.655000	0.94253	TCT	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446387.1		+	ENST00000399722.2	Missense_Mutation	SNP	18 : 20516852 - 20516852 G PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	1074	361
RIN2	54453	broad.mit.edu	37	20	19981313	19981313	+	Silent	SNP	C	C	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr20:19981313C>G	ENST00000255006.6	+	12	2717	c.2568C>G	c.(2566-2568)ctC>ctG	p.L856L	RIN2_ENST00000440354.2_Silent_p.L374L|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	807	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GAAAGACCCTCCTTGTGAGAC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	150	151			NA	NA	20		NA											NA				19981313		2037	4204	6241	SO:0001819	synonymous_variant			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669	54453	54453			18750	protein-coding gene	gene with protein product		610222			NA	11733506, 1849280, 16423831	Standard		NM_018993	NA	Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.2568C>G	20.37:g.19981313C>G		NA	Q00425|Q5TFT8|Q9BQL3|Q9H071	37	CCDS56182.1																																																																																			RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078212.1		+	ENST00000255006.6	Silent	SNP	20 : 19981313 - 19981313 G PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	995	166
RNPEP	6051	broad.mit.edu	37	1	201966564	201966564	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:201966564C>T	ENST00000295640.4	+	5	1015	c.972C>T	c.(970-972)atC>atT	p.I324I	RNPEP_ENST00000367286.3_Silent_p.I285I|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	324					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		ATGTCATCATCCATGAGATCT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(19;39 479 7473 13131 19462)							NA				0													124	110	115			NA	NA	1		NA											NA				201966564		2203	4300	6503	SO:0001819	synonymous_variant			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	6051	6051	3.4.11.6		10078	protein-coding gene	gene with protein product		602675			NA	9533033, 10467730	Standard	NM_020216	NM_020216	NA	Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.972C>T	1.37:g.201966564C>T		NA	Q9BVM9|Q9H1D4|Q9NPT7	37	CCDS1418.1																																																																																			RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087345.1		+	ENST00000295640.4	Silent	SNP	1 : 201966564 - 201966564 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	682	118
RNPEP	6051	broad.mit.edu	37	1	201966573	201966573	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:201966573C>T	ENST00000295640.4	+	5	1024	c.981C>T	c.(979-981)atC>atT	p.I327I	RNPEP_ENST00000367286.3_Silent_p.I288I|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	327					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TCCATGAGATCTCCCACAGTT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(19;39 479 7473 13131 19462)							NA				0													122	108	113			NA	NA	1		NA											NA				201966573		2203	4300	6503	SO:0001819	synonymous_variant			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	6051	6051	3.4.11.6		10078	protein-coding gene	gene with protein product		602675			NA	9533033, 10467730	Standard	NM_020216	NM_020216	NA	Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.981C>T	1.37:g.201966573C>T		NA	Q9BVM9|Q9H1D4|Q9NPT7	37	CCDS1418.1																																																																																			RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087345.1		+	ENST00000295640.4	Silent	SNP	1 : 201966573 - 201966573 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	675	108
RSBN1	54665	broad.mit.edu	37	1	114340098	114340098	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:114340098G>C	ENST00000261441.5	-	2	1327	c.1264C>G	c.(1264-1266)Ctc>Gtc	p.L422V		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	422						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGTCTGGGAGATAAGCAGCC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	53	52			NA	NA	1		NA											NA				114340098		2203	4300	6503	SO:0001583	missense			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019	54665	54665			25642	protein-coding gene	gene with protein product		615858			NA	12477932	Standard	NM_018364	NM_018364	NA	Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1264C>G	1.37:g.114340098G>C	ENSP00000261441:p.Leu422Val	NA	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	37	CCDS862.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586901	0.46110	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.73636	0.3612	M	0.81802	2.56	0.58432	D	0.999999	D	0.67145	0.996	D	0.75484	0.986	T	0.77490	-0.2568	9	0.87932	D	0	-8.013	10.3789	0.44099	0.1484:0.0:0.8516:0.0	.	422	Q5VWQ0	RSBN1_HUMAN	V	422	.	ENSP00000261441:L422V	L	-	1	0	RSBN1	114141621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.716000	0.61916	2.824000	0.97209	0.655000	0.94253	CTC	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033022.2		-	ENST00000261441.5	Missense_Mutation	SNP	1 : 114340098 - 114340098 C PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	356	56
SH3GL1	6455	broad.mit.edu	37	19	4364084	4364084	+	Splice_Site	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr19:4364084C>T	ENST00000269886.3	-	5	644		c.e5+1		SH3GL1_ENST00000598564.1_Splice_Site|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Splice_Site	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	NA					central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		AGGAGCAGCACCTGGATCTCC	0.647		NA	T	MLL	AL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(94;1152 2133 30346 33362)		Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0													35	31	32			NA	NA	19		NA											NA				4364084		2203	4300	6503	SO:0001630	splice_region_variant				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22					6455	6455			10830	protein-coding gene	gene with protein product	extra 11-19 leukemia fusion, fusion partner of MLL, SH3-containing Grb-2-like 1 protein, SH3-containing protein EEN, SH3 domain GRB2-like 1	601768			NA	9169142	Standard	NM_003025	NM_003025	NA	Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.465+1G>A	19.37:g.4364084C>T		NA	Q99668	37	CCDS32874.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.212855	0.79352	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2215	0.86958	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SH3GL1	4315084	1.000000	0.71417	0.994000	0.49952	0.761000	0.43186	7.773000	0.85462	2.315000	0.78130	0.561000	0.74099	.	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458302.1	Intron	-	ENST00000269886.3	Splice_Site	SNP	19 : 4364084 - 4364084 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	276	56
SIDT2	51092	broad.mit.edu	37	11	117058103	117058103	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:117058103G>C	ENST00000324225.4	+	11	1556	c.1025G>C	c.(1024-1026)cGa>cCa	p.R342P	SIDT2_ENST00000431081.2_Missense_Mutation_p.R346P	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	342						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GGTCACCCTCGAGTCCTGGCT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	136	151			NA	NA	11		NA											NA				117058103		2201	4296	6497	SO:0001583	missense			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577	51092	51092			24272	protein-coding gene	gene with protein product					NA	10810093, 12975309	Standard	NM_015996	NM_001040455	NA	Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1025G>C	11.37:g.117058103G>C	ENSP00000314023:p.Arg342Pro	NA	Q8NBY7|Q9Y357	37	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250742	0.39797	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081	T;T;T	0.18810	2.19;2.22;2.21	4.93	4.93	0.64822	.	0.308789	0.32473	N	0.006059	T	0.14830	0.0358	N	0.03154	-0.405	0.34842	D	0.740825	B;P;B;P	0.40032	0.416;0.699;0.324;0.471	B;B;P;P	0.48488	0.443;0.224;0.482;0.579	T	0.28364	-1.0046	10	0.33940	T	0.23	-23.5708	12.0315	0.53399	0.0826:0.0:0.9174:0.0	.	342;346;342;342	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	P	342;342;346	ENSP00000314023:R342P;ENSP00000278951:R342P;ENSP00000399635:R346P	ENSP00000278951:R342P	R	+	2	0	SIDT2	116563313	0.924000	0.31332	1.000000	0.80357	0.972000	0.66771	4.485000	0.60279	2.576000	0.86940	0.561000	0.74099	CGA	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392836.1		+	ENST00000324225.4	Missense_Mutation	SNP	11 : 117058103 - 117058103 C PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	779	134
SLC25A6	293	broad.mit.edu	37	X	1508186	1508186	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chrX:1508186C>T	ENST00000381401.5	-	2	1260	c.546G>A	c.(544-546)caG>caA	p.Q182Q	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	182					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TGATGATGCCCTGCACGGAGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	112	112			NA	NA	X		NA											NA				1508186		2203	4296	6499	SO:0001819	synonymous_variant			AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100	293	293		Pseudoautosomal regions / PAR1, Solute carriers	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3	NA		Standard	NM_001636	NM_001636	NA	Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.546G>A	X.37:g.1508186C>T		NA	Q96C49	37	CCDS14114.1																																																																																			SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055596.1		-	ENST00000381401.5	Silent	SNP	X : 1508186 - 1508186 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	715	150
SLC2A9	56606	broad.mit.edu	37	4	9998478	9998478	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr4:9998478T>C	ENST00000506583.1	-	5	467	c.250A>G	c.(250-252)Act>Gct	p.T84A	SLC2A9_ENST00000264784.3_Missense_Mutation_p.T113A|SLC2A9_ENST00000309065.3_Missense_Mutation_p.T84A			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	113					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						ATGGACACAGTCACAGACCAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	124	131			NA	NA	4		NA											NA				9998478		2203	4300	6503	SO:0001583	missense			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667	56606	56606		Solute carriers	13446	protein-coding gene	gene with protein product	urate voltage-driven efflux transporter 1	606142			NA	10860667, 17710649	Standard		NM_020041	NA	Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000506583.1:c.250A>G	4.37:g.9998478T>C	ENSP00000422209:p.Thr84Ala	NA	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	37	CCDS3406.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.790410	0.70337	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	T;T;T;T	0.79845	0.4;-0.84;0.4;-1.31	5.21	5.21	0.72293	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.107675	0.64402	D	0.000007	T	0.81517	0.4839	L	0.33485	1.01	0.40360	D	0.979237	P;P	0.47191	0.891;0.846	P;P	0.59546	0.72;0.859	T	0.80339	-0.1424	9	.	.	.	.	11.9036	0.52697	0.0:0.0:0.0:1.0	.	84;113	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	A	84;113;84;84	ENSP00000422209:T84A;ENSP00000264784:T113A;ENSP00000311383:T84A;ENSP00000426800:T84A	.	T	-	1	0	SLC2A9	9607576	1.000000	0.71417	0.990000	0.47175	0.946000	0.59487	4.346000	0.59367	2.136000	0.66102	0.524000	0.50904	ACT	SLC2A9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207054.2		-	ENST00000506583.1	Missense_Mutation	SNP	4 : 9998478 - 9998478 C PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	548	116
SLC5A1	6523	broad.mit.edu	37	22	32464533	32464533	+	Silent	SNP	C	C	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr22:32464533C>A	ENST00000266088.4	+	5	673	c.423C>A	c.(421-423)atC>atA	p.I141I	SLC5A1_ENST00000543737.1_Silent_p.I14I	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	141					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GCCAGCGGATCCAGGTCTACC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	126	138			NA	NA	22		NA											NA				32464533		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170	6523	6523		Solute carriers	11036	protein-coding gene	gene with protein product	sodium/glucose cotransporter 1	182380		SGLT1	NA	8195156	Standard	NM_000343	NM_000343	NA	Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.423C>A	22.37:g.32464533C>A		NA	B2R7E2	37	CCDS13902.1																																																																																			SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075656.3		+	ENST00000266088.4	Silent	SNP	22 : 32464533 - 32464533 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	571	106
SMAD4	4089	broad.mit.edu	37	18	48604787	48604787	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr18:48604787G>C	ENST00000588745.1	+	8	1321	c.1321G>C	c.(1321-1323)Gac>Cac	p.D441H	SMAD4_ENST00000342988.3_Missense_Mutation_p.D537H|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.D537H			Q13485	SMAD4_HUMAN	SMAD family member 4	537	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.D537Y(3)|p.?(2)|p.L536fs*11(1)|p.L536fs*14(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CCAGCTCCTAGACGAAGTACT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				43	Whole gene deletion(36)|Substitution - Missense(3)|Deletion - Frameshift(2)|Unknown(2)	pancreas(26)|large_intestine(7)|lung(3)|breast(3)|stomach(2)|upper_aerodigestive_tract(1)|oesophagus(1)											79	82	81			NA	NA	18		NA											NA				48604787		2203	4300	6503	SO:0001583	missense			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646	4089	4089		SMADs	6770	protein-coding gene	gene with protein product		600993	MAD, mothers against decapentaplegic homolog 4 (Drosophila), SMAD, mothers against DPP homolog 4 (Drosophila)	MADH4	NA	8553070, 8774881	Standard	NM_005359	NM_005359	NA	Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000588745.1:c.1321G>C	18.37:g.48604787G>C	ENSP00000464901:p.Asp441His	NA	A8K405	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921809	0.73213	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.98075	-4.7;-4.7	6.07	6.07	0.98685	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (1);	0.000000	0.85682	D	0.000000	D	0.99133	0.9701	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99323	1.0907	10	0.87932	D	0	.	19.4308	0.94765	0.0:0.0:1.0:0.0	.	537	Q13485	SMAD4_HUMAN	H	537	ENSP00000341551:D537H;ENSP00000381452:D537H	ENSP00000341551:D537H	D	+	1	0	SMAD4	46858785	1.000000	0.71417	0.972000	0.41901	0.957000	0.61999	9.633000	0.98432	2.885000	0.99019	0.655000	0.94253	GAC	SMAD4-004	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449729.1		+	ENST00000588745.1	Missense_Mutation	SNP	18 : 48604787 - 48604787 C PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	487	117
SMU1	55234	broad.mit.edu	37	9	33068870	33068870	+	Silent	SNP	G	G	A	rs113018466	byFrequency	TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr9:33068870G>A	ENST00000397149.3	-	4	503	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	151						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CACTGACTTCGCCAGCTAAGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		10,4396	17.9+/-39.9	0,10,2193	191	152	166		453	-0.1	1	9	dbSNP_132	166	0,8600		0,0,4300	no	coding-synonymous	SMU1	NM_018225.2		0,10,6493	AA,AG,GG	NA	0.0,0.227,0.0769		151/514	33068870	10,12996	2203	4300	6503	SO:0001819	synonymous_variant			AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692	55234	55234		WD repeat domain containing	18247	protein-coding gene	gene with protein product	functional spliceosome-associated protein 57				NA	11438655, 11410362	Standard	NM_018225	NM_018225	NA	Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.453C>T	9.37:g.33068870G>A		NA	Q9BU59|Q9HA96|Q9NVD1	37	CCDS6534.1																																																																																			SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052022.1		-	ENST00000397149.3	Silent	SNP	9 : 33068870 - 33068870 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	302	5
SORCS3	22986	broad.mit.edu	37	10	106924113	106924113	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr10:106924113C>T	ENST00000369701.3	+	12	2012	c.1785C>T	c.(1783-1785)tcC>tcT	p.S595S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	595						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCATCTCCTCCGATGGGGGCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(116;1497 1690 7108 13108 14106)							NA				0													105	95	98			NA	NA	10		NA											NA				106924113		2203	4300	6503	SO:0001819	synonymous_variant			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395	22986	22986			16699	protein-coding gene	gene with protein product		606285			NA	11499680	Standard	NM_014978	NM_014978	NA	Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1785C>T	10.37:g.106924113C>T		NA	Q5VXF9|Q9NQJ2	37	CCDS7558.1																																																																																			SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050221.1		+	ENST00000369701.3	Silent	SNP	10 : 106924113 - 106924113 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	298	6
SPHK2	56848	broad.mit.edu	37	19	49129495	49129495	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr19:49129495C>T	ENST00000599029.1	+	1	1270	c.279C>T	c.(277-279)cgC>cgT	p.R93R	SPHK2_ENST00000245222.4_Silent_p.R129R|SPHK2_ENST00000599748.1_Silent_p.R93R|SPHK2_ENST00000340932.3_Silent_p.R93R|SPHK2_ENST00000443164.1_Silent_p.R191R|SPHK2_ENST00000601712.1_Silent_p.R93R|SPHK2_ENST00000599033.1_3'UTR|SPHK2_ENST00000600537.1_Silent_p.R70R|SPHK2_ENST00000598088.1_Silent_p.R129R			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	129	Required for binding to sulfatide and phosphoinositides and for membrane localization.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		gggcccggcgcAGAGCCACTC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	9	9			NA	NA	19		NA											NA				49129495		2089	4122	6211	SO:0001819	synonymous_variant			AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176	56848	56848			18859	protein-coding gene	gene with protein product		607092			NA	10751414, 17895250	Standard		NM_020126	NA	Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000599029.1:c.279C>T	19.37:g.49129495C>T		NA	Q9BRN1|Q9H0Q2|Q9NWU7	37																																																																																				SPHK2-010	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000466165.1		+	ENST00000599029.1	Silent	SNP	19 : 49129495 - 49129495 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	148	40
SPTAN1	6709	broad.mit.edu	37	9	131386635	131386635	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr9:131386635C>G	ENST00000372739.3	+	46	5971	c.5861C>G	c.(5860-5862)tCa>tGa	p.S1954*	SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.S1949*|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.S1954*	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1949					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AACATCTCTTCAAAGATGAAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(120;833 1744 2558 35612 37579)							NA				0													70	62	65			NA	NA	9		NA											NA				131386635		2203	4300	6503	SO:0001587	stop_gained			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694	6709	6709		EF-hand domain containing	11273	protein-coding gene	gene with protein product	alpha-fodrin	182810			NA	3336352	Standard	NM_003127	NM_003127	NA	Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372739.3:c.5861C>G	9.37:g.131386635C>G	ENSP00000361824:p.Ser1954*	NA	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	37	CCDS48036.1	.	.	.	.	.	.	.	.	.	.	C	46	12.783765	0.99696	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	.	.	.	5.23	4.32	0.51571	.	0.166830	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	14.3956	0.67007	0.0:0.9275:0.0:0.0725	.	.	.	.	X	1954;1949;1954;1929;198	.	ENSP00000350882:S1954X	S	+	2	0	SPTAN1	130426456	1.000000	0.71417	0.563000	0.28383	0.993000	0.82548	5.710000	0.68392	1.317000	0.45149	0.655000	0.94253	TCA	SPTAN1-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054473.1		+	ENST00000372739.3	Nonsense_Mutation	SNP	9 : 131386635 - 131386635 G PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	302	65
ST3GAL2	6483	broad.mit.edu	37	16	70415640	70415640	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:70415640G>C	ENST00000393640.4	-	6	3112	c.1005C>G	c.(1003-1005)atC>atG	p.I335M	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.I335M			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	335					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				CCAGCATGTCGATGATGTGGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	55	58			NA	NA	16		NA											NA				70415640		2198	4300	6498	SO:0001583	missense			U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	6483	6483	2.4.99.4	Sialyltransferases	10863	protein-coding gene	gene with protein product		607188	sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)	SIAT4B	NA	9266697, 8920913	Standard	NM_006927	NM_006927	NA	Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.1005C>G	16.37:g.70415640G>C	ENSP00000377257:p.Ile335Met	NA	O00654	37	CCDS10890.1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.248254	0.80024	.	.	ENSG00000157350	ENST00000342907;ENST00000393640	T;T	0.32515	1.45;1.45	6.07	-2.78	0.05859	.	0.042535	0.85682	D	0.000000	T	0.42131	0.1189	M	0.76727	2.345	0.49798	D	0.999827	D	0.63880	0.993	P	0.59487	0.858	T	0.41716	-0.9493	10	0.66056	D	0.02	-32.3009	7.3993	0.26954	0.4899:0.0:0.4023:0.1078	.	335	Q16842	SIA4B_HUMAN	M	335	ENSP00000345477:I335M;ENSP00000377257:I335M	ENSP00000345477:I335M	I	-	3	3	ST3GAL2	68973141	0.170000	0.23016	0.988000	0.46212	0.670000	0.39368	-0.349000	0.07731	-0.283000	0.09115	-0.224000	0.12420	ATC	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268968.1		-	ENST00000393640.4	Missense_Mutation	SNP	16 : 70415640 - 70415640 C PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	433	152
TCP11L1	55346	broad.mit.edu	37	11	33094069	33094069	+	Silent	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:33094069G>A	ENST00000334274.4	+	10	1777	c.1377G>A	c.(1375-1377)caG>caA	p.Q459Q	TCP11L1_ENST00000324357.9_Silent_p.Q238Q|TCP11L1_ENST00000432887.1_Silent_p.Q459Q|TCP11L1_ENST00000531632.2_Silent_p.Q459Q	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	459										kidney(1)|liver(2)|lung(2)|skin(1)	6						CGGGTCATCAGAAGCCATTGC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	146	148			NA	NA	11		NA											NA				33094069		2202	4298	6500	SO:0001819	synonymous_variant			BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148	55346	55346			25655	protein-coding gene	gene with protein product			t-complex 11 (mouse) like 1		NA		Standard	NM_018393	NM_001145541	NA	Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.1377G>A	11.37:g.33094069G>A		NA	D3DR01|Q8IVX4	37	CCDS7882.1	.	.	.	.	.	.	.	.	.	.	G	8.692	0.907562	0.17833	.	.	ENSG00000176148	ENST00000528962	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	T	0.70919	0.3279	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69383	-0.5160	4	.	.	.	-34.9109	14.752	0.69533	0.0:0.1444:0.8556:0.0	.	.	.	.	K	75	.	.	E	+	1	0	TCP11L1	33050645	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.822000	0.48073	2.530000	0.85305	0.313000	0.20887	GAA	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383377.4		+	ENST00000334274.4	Silent	SNP	11 : 33094069 - 33094069 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	1254	229
THSD4	79875	broad.mit.edu	37	15	71704038	71704038	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:71704038G>A	ENST00000355327.3	+	7	1162	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	THSD4_ENST00000261862.6_Missense_Mutation_p.R343H			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	343						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAAGGCAATCGCAAATGTGAG	0.423		NA											G	1	5e-04	NA	NA	2184	0.0017	0.9995	,	,	NA	3e-04	NA	NA	NA	7e-04	0.7787	LOWCOV	NA	NA	3e-04	SNP								NA				0													50	48	49			NA	NA	15		NA											NA				71704038		1950	4153	6103	SO:0001583	missense			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720	79875	79875			25835	protein-coding gene	gene with protein product		614476			NA	19734141	Standard	NM_024817	NM_001286429	NA	Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1028G>A	15.37:g.71704038G>A	ENSP00000347484:p.Arg343His	NA	B2RTY3|Q6MZI3|Q6UXZ8|Q9H8E4	37	CCDS10238.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.95	2.390891	0.42410	.	.	ENSG00000187720	ENST00000355327;ENST00000261862	T;T	0.71817	-0.6;-0.6	5.47	3.37	0.38596	.	0.225081	0.38605	N	0.001633	T	0.54532	0.1864	N	0.13168	0.305	0.27987	N	0.935816	D;B	0.59357	0.985;0.013	P;B	0.49683	0.619;0.003	T	0.51608	-0.8684	10	0.54805	T	0.06	.	2.8813	0.05648	0.2513:0.0:0.5304:0.2183	.	343;343	Q6ZMP0-2;Q6ZMP0	.;THSD4_HUMAN	H	343	ENSP00000347484:R343H;ENSP00000261862:R343H	ENSP00000261862:R343H	R	+	2	0	THSD4	69491092	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	1.507000	0.35758	1.324000	0.45282	-0.142000	0.14014	CGC	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257253.2		+	ENST00000355327.3	Missense_Mutation	SNP	15 : 71704038 - 71704038 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	190	48
TOX2	84969	broad.mit.edu	37	20	42694633	42694633	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr20:42694633C>T	ENST00000358131.5	+	6	1396	c.1188C>T	c.(1186-1188)ggC>ggT	p.G396G	TOX2_ENST00000341197.4_Silent_p.G414G|TOX2_ENST00000423191.2_Silent_p.G372G|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Silent_p.G372G	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	396	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ACGCCCAGGGCGCCCTCCTCA	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	29	28			NA	NA	20		NA											NA				42694633		2202	4297	6499	SO:0001819	synonymous_variant			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20			84969	84969			16095	protein-coding gene	gene with protein product	granulosa cell HMG box 1	611163	chromosome 20 open reading frame 100	C20orf100	NA	14764631	Standard		NM_001098796	NA	Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1188C>T	20.37:g.42694633C>T		NA	Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	37	CCDS42875.1																																																																																			TOX2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079329.2		+	ENST00000358131.5	Silent	SNP	20 : 42694633 - 42694633 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	331	58
TRIML1	339976	broad.mit.edu	37	4	189060986	189060986	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr4:189060986C>A	ENST00000332517.3	+	1	414	c.274C>A	c.(274-276)Cag>Aag	p.Q92K		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	92					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CGAGGATGAGCAGGGCAGCTA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(31;213 1036 16579 23968 32372)							NA				0													44	43	43			NA	NA	4		NA											NA				189060986		2203	4300	6503	SO:0001583	missense			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108	339976	339976		RING-type (C3HC4) zinc fingers	26698	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178556	NM_178556	NA	Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.274C>A	4.37:g.189060986C>A	ENSP00000327738:p.Gln92Lys	NA	Q96BE5	37	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	C	3.439	-0.114406	0.06881	.	.	ENSG00000184108	ENST00000332517	T	0.61274	0.12	5.19	3.32	0.38043	.	0.645692	0.13834	N	0.359532	T	0.41465	0.1160	L	0.47716	1.5	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.35822	-0.9773	10	0.05959	T	0.93	-6.5751	5.7084	0.17921	0.1928:0.7101:0.0:0.0971	.	92	Q8N9V2	TRIML_HUMAN	K	92	ENSP00000327738:Q92K	ENSP00000327738:Q92K	Q	+	1	0	TRIML1	189297980	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-0.461000	0.06712	1.512000	0.48834	0.655000	0.94253	CAG	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359813.1		+	ENST00000332517.3	Missense_Mutation	SNP	4 : 189060986 - 189060986 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	386	12
TSPEAR	54084	broad.mit.edu	37	21	45971155	45971155	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr21:45971155C>T	ENST00000397916.1	-	2	258				KRTAP10-2_ENST00000498210.1_Intron|KRTAP10-2_ENST00000391621.1_Missense_Mutation_p.E63K|TSPEAR_ENST00000323084.4_Intron			Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	NA					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCGCTGGGCTCACAGGCCGCC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	38	36			NA	NA	21		NA											NA				45971155		2197	4287	6484	SO:0001627	intron_variant			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894	54084	54084			1268	protein-coding gene	gene with protein product		612920	chromosome 21 open reading frame 29, deafness, autosomal recessive 98	C21orf29, DFNB98	NA	12095917, 22678063	Standard	NM_144991	NM_144991	NA	Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000397916.1:c.99+16513G>A	21.37:g.45971155C>T		NA		37		.	.	.	.	.	.	.	.	.	.	c	6.060	0.379382	0.11466	.	.	ENSG00000205445	ENST00000391621	T	0.00691	5.84	2.06	2.06	0.26882	.	.	.	.	.	T	0.00695	0.0023	L	0.47716	1.5	0.21950	N	0.999454	P	0.41232	0.743	B	0.23716	0.048	T	0.53049	-0.8493	9	0.37606	T	0.19	.	7.4261	0.27100	0.0:1.0:0.0:0.0	.	63	P60368	KR102_HUMAN	K	63	ENSP00000375479:E63K	ENSP00000375479:E63K	E	-	1	0	KRTAP10-2	44795583	0.726000	0.28059	0.264000	0.24511	0.040000	0.13550	2.369000	0.44231	0.652000	0.30806	0.306000	0.20318	GAG	TSPEAR-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000195865.1		-	ENST00000397916.1	Intron	SNP	21 : 45971155 - 45971155 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	607	22
TTLL5	23093	broad.mit.edu	37	14	76330128	76330128	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr14:76330128C>T	ENST00000557636.1	+	30	3705	c.3490C>T	c.(3490-3492)Caa>Taa	p.Q1164*	TTLL5_ENST00000298832.9_Nonsense_Mutation_p.Q1149*|TTLL5_ENST00000554510.1_Nonsense_Mutation_p.Q658*|TTLL5_ENST00000556893.1_Nonsense_Mutation_p.Q700*			Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1149					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTATCAGCTTCAATTTGCCCT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	98	98			NA	NA	14		NA											NA				76330128		2203	4300	6503	SO:0001587	stop_gained			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685	23093	23093		Tubulin tyrosine ligase-like family	19963	protein-coding gene	gene with protein product		612268	KIAA0998	KIAA0998	NA	15890843	Standard	NM_015072	NM_015072	NA	Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000557636.1:c.3490C>T	14.37:g.76330128C>T	ENSP00000450713:p.Gln1164*	NA	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	37		.	.	.	.	.	.	.	.	.	.	C	43	10.490315	0.99415	.	.	ENSG00000119685	ENST00000286653;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	.	.	.	5.78	5.78	0.91487	.	0.432376	0.27424	N	0.019434	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	14.9992	0.71459	0.1417:0.8583:0.0:0.0	.	.	.	.	X	223;1164;1149;700;700;658	.	ENSP00000286653:Q223X	Q	+	1	0	TTLL5	75399881	0.991000	0.36638	0.999000	0.59377	0.945000	0.59286	2.927000	0.48900	2.894000	0.99253	0.655000	0.94253	CAA	TTLL5-016	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000414451.1		+	ENST00000557636.1	Nonsense_Mutation	SNP	14 : 76330128 - 76330128 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	962	198
UBR2	23304	broad.mit.edu	37	6	42541728	42541728	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr6:42541728G>C	ENST00000372899.1	+	2	593	c.335G>C	c.(334-336)tGc>tCc	p.C112S	UBR2_ENST00000372901.1_Missense_Mutation_p.C112S|UBR2_ENST00000372903.2_Missense_Mutation_p.C112S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	112					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ACATATTCTTGCAGGTAAAAT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	68	67			NA	NA	6		NA											NA				42541728		2203	4300	6503	SO:0001583	missense			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048	23304	23304		Ubiquitin protein ligase E3 component n-recognins	21289	protein-coding gene	gene with protein product		609134	chromosome 6 open reading frame 133	C6orf133	NA		Standard	NM_015255	NM_015255	NA	Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.335G>C	6.37:g.42541728G>C	ENSP00000361990:p.Cys112Ser	NA	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843827	0.91197	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	D;D;D	0.97553	-4.43;-4.43;-4.43	5.68	5.68	0.88126	Zinc finger, N-recognin, metazoa (1);Zinc finger, N-recognin (2);	0.045834	0.85682	D	0.000000	D	0.99233	0.9733	H	0.97962	4.115	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.996;0.995	D	0.98951	1.0794	10	0.87932	D	0	-3.8635	19.7873	0.96444	0.0:0.0:1.0:0.0	.	112;112	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	S	112	ENSP00000361994:C112S;ENSP00000361990:C112S;ENSP00000361992:C112S	ENSP00000361990:C112S	C	+	2	0	UBR2	42649706	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.673000	0.90976	0.655000	0.94253	TGC	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040558.2		+	ENST00000372899.1	Missense_Mutation	SNP	6 : 42541728 - 42541728 C PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	353	16
ZER1	10444	broad.mit.edu	37	9	131513437	131513437	+	Silent	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr9:131513437G>A	ENST00000291900.2	-	7	1555	c.1149C>T	c.(1147-1149)cgC>cgT	p.R383R		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	383					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						AACGCTCGATGCGGGCGATGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	51	54			NA	NA	9		NA											NA				131513437		2203	4300	6503	SO:0001819	synonymous_variant			X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445	10444	10444		ZYG11 cell cycle regulator family	30960	protein-coding gene	gene with protein product			chromosome 9 open reading frame 60, zyg-11 homolog B (C. elegans)-like, zer-1 homolog (C. elegans)	C9orf60, ZYG11BL	NA	11719588	Standard	NM_006336	NM_006336	NA	Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1149C>T	9.37:g.131513437G>A		NA	O00156|Q5T272|Q5T273	37	CCDS6910.1																																																																																			ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054491.1		-	ENST00000291900.2	Silent	SNP	9 : 131513437 - 131513437 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	145	32
ZNF174	7727	broad.mit.edu	37	16	3452365	3452365	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:3452365G>A	ENST00000268655.4	+	1	946	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	ZNF174_ENST00000572544.1_Missense_Mutation_p.V121M|ZNF174_ENST00000571936.1_Missense_Mutation_p.V121M|ZNF174_ENST00000344823.5_Missense_Mutation_p.V121M|ZNF174_ENST00000575752.1_Missense_Mutation_p.V121M	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	121	SCAN box.				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						TGTGACCCTCGTGGAAGATTT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	67	66			NA	NA	16		NA											NA				3452365		2197	4300	6497	SO:0001583	missense			U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343	7727	7727		-, Zinc fingers, C2H2-type	12963	protein-coding gene	gene with protein product		603900			NA		Standard	NM_003450	NM_003450	NA	Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.361G>A	16.37:g.3452365G>A	ENSP00000268655:p.Val121Met	NA	Q53Y68|Q9BQ34	37	CCDS10504.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380339	0.42207	.	.	ENSG00000103343	ENST00000344823;ENST00000268655	T;T	0.07021	3.23;3.23	4.5	4.5	0.54988	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.43747	D	0.000531	T	0.25232	0.0613	M	0.71206	2.165	0.36337	D	0.859256	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.986;0.992;0.973	T	0.03761	-1.1006	10	0.87932	D	0	.	10.9404	0.47270	0.0:0.1892:0.8108:0.0	.	121;121;121	Q15697;Q15697-2;Q8IZN5	ZN174_HUMAN;.;.	M	121	ENSP00000339781:V121M;ENSP00000268655:V121M	ENSP00000268655:V121M	V	+	1	0	ZNF174	3392366	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	3.912000	0.56386	2.790000	0.95986	0.655000	0.94253	GTG	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251510.1		+	ENST00000268655.4	Missense_Mutation	SNP	16 : 3452365 - 3452365 A PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	765	37
ZNF259	0	broad.mit.edu	37	11	116652933	116652933	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:116652933C>T	ENST00000227322.3	-	12	1179	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		374					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TTGGAACTGTCGCCCAGTGTG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	99	105			NA	NA	11		NA											NA				116652933		2201	4296	6497	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000227322.3:c.1120G>A	11.37:g.116652933C>T	ENSP00000227322:p.Asp374Asn	NA	Q2TAA0	37	CCDS8375.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.735372|5.735372	0.96865|0.96865	.|.	.|.	ENSG00000109917|ENSG00000109917	ENST00000227322|ENST00000429220	T|.	0.44881|.	0.91|.	6.02|6.02	6.02|6.02	0.97574|0.97574	Zinc finger, ZPR1-type (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88343|0.88343	0.6411|0.6411	H|H	0.95780|0.95780	3.72|3.72	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90566|0.90566	0.4519|0.4519	10|5	0.72032|.	D|.	0.01|.	-35.8364|-35.8364	20.5407|20.5407	0.99260|0.99260	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	374|.	O75312|.	ZPR1_HUMAN|.	N|Q	374|300	ENSP00000227322:D374N|.	ENSP00000227322:D374N|.	D|R	-|-	1|2	0|0	ZNF259|ZNF259	116158143|116158143	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.861000|0.861000	0.49209|0.49209	6.708000|6.708000	0.74660|0.74660	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GAC|CGA	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000106283.2		-	ENST00000227322.3	Missense_Mutation	SNP	11 : 116652933 - 116652933 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	338	8
ZNF789	285989	broad.mit.edu	37	7	99084963	99084963	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr7:99084963C>T	ENST00000493485.1	+	4	452				ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000331410.5_Missense_Mutation_p.T377M			Q5FWF6	ZN789_HUMAN	zinc finger protein 789	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGTGGGAAAACGTTTAGTTTT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	137	138			NA	NA	7		NA											NA				99084963		2203	4300	6503	SO:0001627	intron_variant			AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556	285989	285989		Zinc fingers, C2H2-type, -	27801	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_213603	XM_005250281	NA	Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000493485.1:c.130+7553C>T	7.37:g.99084963C>T		NA	A4D282|Q6ZMZ9	37		.	.	.	.	.	.	.	.	.	.	C	2.833	-0.242182	0.05906	.	.	ENSG00000198556	ENST00000331410	T	0.21031	2.03	2.89	1.98	0.26296	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29684	0.0741	L	0.60455	1.87	0.19300	N	0.99998	D	0.76494	0.999	P	0.54815	0.761	T	0.09250	-1.0683	9	0.66056	D	0.02	.	5.4818	0.16727	0.2327:0.5406:0.2266:0.0	.	377	Q5FWF6	ZN789_HUMAN	M	377	ENSP00000331927:T377M	ENSP00000331927:T377M	T	+	2	0	ZNF789	98922899	0.000000	0.05858	0.232000	0.24009	0.029000	0.11900	0.055000	0.14229	0.774000	0.33427	-0.188000	0.12872	ACG	ZNF789-012	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000354144.1		+	ENST00000493485.1	Intron	SNP	7 : 99084963 - 99084963 T PAAD-TCGA-HZ-7919-Tumor-SM-2NW81	934	17
