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
ANKMY1	51281	broad.mit.edu	37	2	241465801	241465801	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:241465801A>G	ENST00000403283.1	-	5	877				ANKMY1_ENST00000401804.1_Missense_Mutation_p.F339L|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.F250L|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000391987.1_Missense_Mutation_p.F250L|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000406958.1_Intron			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	NA							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CAGGGTGCAAAGCCACTGCGC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	109	116			NA	NA	2		NA											NA				241465801		2203	4300	6503	SO:0001627	intron_variant			AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504	51281	51281		Zinc fingers, MYND-type, Ankyrin repeat domain containing	20987	protein-coding gene	gene with protein product					NA		Standard	NM_017844	XM_005247020	NA	Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000403283.1:c.718-535T>C	2.37:g.241465801A>G		NA	B2RB78|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	37		.	.	.	.	.	.	.	.	.	.	A	15.80	2.939115	0.52972	.	.	ENSG00000144504	ENST00000272972;ENST00000391987;ENST00000401804	T;T;T	0.60171	0.27;0.27;0.21	3.85	3.85	0.44370	.	0.000000	0.64402	D	0.000001	T	0.64103	0.2568	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.64837	-0.6313	10	0.51188	T	0.08	-10.8181	10.8938	0.47010	1.0:0.0:0.0:0.0	.	250;250	Q4ZFV3;Q9P2S6	.;ANKY1_HUMAN	L	250;250;339	ENSP00000272972:F250L;ENSP00000375847:F250L;ENSP00000385887:F339L	ENSP00000272972:F250L	F	-	1	0	ANKMY1	241114474	1.000000	0.71417	0.391000	0.26233	0.018000	0.09664	6.354000	0.73036	1.750000	0.51863	0.477000	0.44152	TTT	ANKMY1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000325900.2		-	ENST00000403283.1	Intron	SNP	2 : 241465801 - 241465801 G PAAD-TCGA-FB-A7DR-Tumor-SM-54378	293	33
ARHGEF17	9828	broad.mit.edu	37	11	73022572	73022572	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:73022572C>T	ENST00000263674.3	+	1	3239	c.2889C>T	c.(2887-2889)ccC>ccT	p.P963P		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	963	Pro-rich.				actin cytoskeleton organization|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	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCAGTGTGCCCGCCACATTTA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	68	67			NA	NA	11		NA											NA				73022572		2200	4293	6493	SO:0001819	synonymous_variant			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237	9828	9828		Rho guanine nucleotide exchange factors	21726	protein-coding gene	gene with protein product	Rho-specific guanine-nucleotide exchange factor 164 kDa, tumor endothelial marker 4				NA	11559528, 12071859	Standard	NM_014786	NM_014786	NA	Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.2889C>T	11.37:g.73022572C>T		NA	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	37	CCDS8221.1																																																																																			ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397365.1		+	ENST00000263674.3	Silent	SNP	11 : 73022572 - 73022572 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	615	63
BAI1	575	broad.mit.edu	37	8	143614731	143614731	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr8:143614731C>T	ENST00000517894.1	+	25	4368	c.3474C>T	c.(3472-3474)acC>acT	p.T1158T	BAI1_ENST00000323289.5_Silent_p.T1158T			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1158					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCGCCGTCACCGACCGCCGCT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	29	26			NA	NA	8		NA											NA				143614731		2200	4295	6495	SO:0001819	synonymous_variant			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790	575	575		-, GPCR / Class B : Orphans	943	protein-coding gene	gene with protein product		602682			NA	9533023	Standard	NM_001702	NM_001702	NA	Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3474C>T	8.37:g.143614731C>T		NA		37																																																																																				BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000379963.3		+	ENST00000517894.1	Silent	SNP	8 : 143614731 - 143614731 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	64	9
CAMK2B	816	broad.mit.edu	37	7	44282246	44282246	+	Silent	SNP	G	G	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:44282246G>T	ENST00000395749.2	-	9	685	c.609C>A	c.(607-609)atC>atA	p.I203I	CAMK2B_ENST00000346990.4_Silent_p.I203I|CAMK2B_ENST00000502837.2_Silent_p.I74I|CAMK2B_ENST00000258682.6_Silent_p.I203I|CAMK2B_ENST00000395747.2_Silent_p.I203I|CAMK2B_ENST00000350811.3_Silent_p.I203I|CAMK2B_ENST00000440254.2_Silent_p.I203I|CAMK2B_ENST00000358707.3_Silent_p.I203I|CAMK2B_ENST00000353625.4_Silent_p.I203I|CAMK2B_ENST00000347193.4_Silent_p.I203I|CAMK2B_ENST00000457475.1_Silent_p.I203I	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	203	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GGATGTACAGGATCACCCCTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	48	51			NA	NA	7		NA											NA				44282246		2203	4298	6501	SO:0001819	synonymous_variant			U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404	816	816			1461	protein-coding gene	gene with protein product	CaM-kinase II beta chain, calcium/calmodulin-dependent protein kinase type II beta chain, CaM kinase II beta subunit, proline rich calmodulin-dependent protein kinase	607707	calcium/calmodulin-dependent protein kinase (CaM kinase) II beta	CAMKB	NA		Standard	NM_172084	NM_172079	NA	Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.609C>A	7.37:g.44282246G>T		NA	A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	37	CCDS5483.1																																																																																			CAMK2B-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251138.2		-	ENST00000395749.2	Silent	SNP	7 : 44282246 - 44282246 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	82	6
CATSPER4	378807	broad.mit.edu	37	1	26520380	26520380	+	Splice_Site	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:26520380G>A	ENST00000456354.2	+	3	526		c.e3+1			NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	NA					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTGGAAGGTGAGATCCTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	120	127			NA	NA	1		NA											NA				26520380		2203	4300	6503	SO:0001630	splice_region_variant			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782	378807	378807		Voltage-gated ion channels / Cation channels, sperm associated	23220	protein-coding gene	gene with protein product		609121			NA	12932298, 17227845, 16382101	Standard	NM_198137	NM_198137	NA	Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.459+1G>A	1.37:g.26520380G>A		NA	A1A4W6|Q5VY71	37	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219896	0.58560	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7971	0.63177	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CATSPER4	26392967	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	5.807000	0.69157	2.327000	0.79052	0.491000	0.48974	.	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019849.2	Intron	+	ENST00000456354.2	Splice_Site	SNP	1 : 26520380 - 26520380 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	468	50
CCDC88B	283234	broad.mit.edu	37	11	64120286	64120286	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:64120286C>T	ENST00000356786.5	+	20	3471	c.3427C>T	c.(3427-3429)Cgc>Tgc	p.R1143C	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.R295C	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1143					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGAGCGTGAACGCCTGATGCA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	28	26			NA	NA	11		NA											NA				64120286		2199	4295	6494	SO:0001583	missense			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071	283234	283234			26757	protein-coding gene	gene with protein product	brain leucine zipper protein, GRP78-interacting protein induced by ER stress	611205	coiled-coil domain containing 88	CCDC88	NA	15882442, 21289099	Standard	NM_032251	NM_032251	NA	Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3427C>T	11.37:g.64120286C>T	ENSP00000349238:p.Arg1143Cys	NA	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	c	18.03	3.532071	0.64972	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.47869	1.82;0.83	3.95	2.94	0.34122	.	.	.	.	.	T	0.58278	0.2111	L	0.54323	1.7	0.46701	D	0.999169	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.72625	0.869;0.978;0.869	T	0.58781	-0.7576	9	0.59425	D	0.04	.	8.2175	0.31521	0.2379:0.7621:0.0:0.0	.	1143;279;1143	B2RTU8;A6NC98-5;A6NC98	.;.;CC88B_HUMAN	C	1025;1143;295	ENSP00000349238:R1143C;ENSP00000352974:R295C	ENSP00000349238:R1143C	R	+	1	0	CCDC88B	63876862	1.000000	0.71417	0.940000	0.37924	0.920000	0.55202	0.994000	0.29693	2.196000	0.70406	0.462000	0.41574	CGC	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000104845.1		+	ENST00000356786.5	Missense_Mutation	SNP	11 : 64120286 - 64120286 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	227	17
CD59	966	broad.mit.edu	37	11	33731808	33731808	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:33731808A>C	ENST00000534312.1	-	3	261	c.251T>G	c.(250-252)cTa>cGa	p.L84R	CD59_ENST00000395850.3_Missense_Mutation_p.L84R|CD59_ENST00000426650.2_Missense_Mutation_p.L84R|CD59_ENST00000527577.1_Missense_Mutation_p.L84R|CD59_ENST00000533403.1_3'UTR|CD59_ENST00000351554.3_Missense_Mutation_p.L84R|CD59_ENST00000445143.2_Missense_Mutation_p.L84R|CD59_ENST00000528700.1_Missense_Mutation_p.L84R|CD59_ENST00000437761.2_Missense_Mutation_p.L84R|CD59_ENST00000415002.2_Missense_Mutation_p.L84R			P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	84	UPAR/Ly6.				blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction				endometrium(1)|lung(2)	3						GTAGTACGTTAGCTCATTTTC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	152	164			NA	NA	11		NA											NA				33731808		2202	4298	6500	SO:0001583	missense				CCDS7886.1	11p13	2014-09-17	2006-03-28			ENSG00000085063	966	966		CD molecules, Complement system	1689	protein-coding gene	gene with protein product		107271	CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344), CD59 antigen, complement regulatory protein	MIC11, MIN1, MSK21, MIN2, MIN3	NA	7691713	Standard	NM_203329	NM_001127223	NA	Approved	16.3A5, EJ16, EJ30, EL32, G344, p18-20	uc001mus.4	P13987		ENST00000534312.1:c.251T>G	11.37:g.33731808A>C	ENSP00000432362:p.Leu84Arg	NA		37		.	.	.	.	.	.	.	.	.	.	A	14.79	2.640911	0.47153	.	.	ENSG00000085063	ENST00000534312;ENST00000527926;ENST00000395850;ENST00000351554;ENST00000415002;ENST00000445143;ENST00000426650;ENST00000437761;ENST00000527577;ENST00000528700	T;T;T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;3.15;3.15;3.15;3.15;3.15;3.15;3.15;3.15	4.26	3.14	0.36123	Ly-6 antigen / uPA receptor -like (1);CD59 antigen (1);	0.486350	0.22400	N	0.060549	T	0.79458	0.4449	M	0.72894	2.215	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.67711	-0.5600	10	0.87932	D	0	-9.4635	6.3772	0.21513	0.8917:0.0:0.1083:0.0	.	84	P13987	CD59_HUMAN	R	84	ENSP00000432362:L84R;ENSP00000437122:L84R;ENSP00000379191:L84R;ENSP00000340210:L84R;ENSP00000404822:L84R;ENSP00000403511:L84R;ENSP00000402425:L84R;ENSP00000410182:L84R;ENSP00000432942:L84R;ENSP00000434617:L84R	ENSP00000340210:L84R	L	-	2	0	CD59	33688384	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	2.113000	0.41902	0.990000	0.38787	0.533000	0.62120	CTA	CD59-012	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000389137.1		-	ENST00000534312.1	Missense_Mutation	SNP	11 : 33731808 - 33731808 C PAAD-TCGA-FB-A7DR-Tumor-SM-54378	405	44
CLK3	1198	broad.mit.edu	37	15	74922153	74922153	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr15:74922153C>A	ENST00000395066.3	+	13	2307	c.1846C>A	c.(1846-1848)Ctg>Atg	p.L616M	CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000345005.4_Missense_Mutation_p.L468M|CLK3_ENST00000352989.5_Missense_Mutation_p.L445M	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	616	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CGAGGCCCTGCTGCACCCCTT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(133;694 1754 28950 29027 31859)							NA				0													48	38	42			NA	NA	15		NA											NA				74922153		2197	4294	6491	SO:0001583	missense			L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335	1198	1198		CDC-like kinases	2071	protein-coding gene	gene with protein product		602990			NA	7990150, 9856501	Standard		NM_003992	NA	Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.1846C>A	15.37:g.74922153C>A	ENSP00000378505:p.Leu616Met	NA	D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	37	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179453	0.57800	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989	T;T	0.65549	-0.16;-0.16	5.23	4.31	0.51392	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.268702	0.26612	N	0.023407	T	0.59676	0.2211	N	0.21545	0.675	0.80722	D	1	P;P;P;P	0.47484	0.896;0.687;0.863;0.626	P;P;P;P	0.60068	0.868;0.597;0.577;0.72	T	0.61232	-0.7104	10	0.59425	D	0.04	.	5.2318	0.15426	0.1473:0.6312:0.1428:0.0787	.	616;321;395;445	P49761;B3KVF3;B3KUU7;G5E959	CLK3_HUMAN;.;.;.	M	468;468;616;445	ENSP00000344112:L468M;ENSP00000323106:L445M	ENSP00000344112:L468M	L	+	1	2	CLK3	72709206	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.205000	0.32308	1.223000	0.43536	0.561000	0.74099	CTG	CLK3-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390442.3		+	ENST00000395066.3	Missense_Mutation	SNP	15 : 74922153 - 74922153 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	139	20
COL18A1	80781	broad.mit.edu	37	21	46925285	46925285	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr21:46925285C>T	ENST00000359759.4	+	35	4293	c.4272C>T	c.(4270-4272)ccC>ccT	p.P1424P	COL18A1_ENST00000355480.5_Silent_p.P1189P|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Silent_p.P1009P			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1424	Nonhelical region 10 (NC10).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCAGCGTTCCCGGCCCTCCGG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	27	25			NA	NA	21		NA											NA				46925285		1827	4079	5906	SO:0001819	synonymous_variant				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871	80781	80781		Collagens	2195	protein-coding gene	gene with protein product	endostatin	120328	Knobloch syndrome, type 1	KNO	NA	8188291, 8776601, 10942434, 17546652	Standard		NM_130445	NA	Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4272C>T	21.37:g.46925285C>T		NA	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	37		.	.	.	.	.	.	.	.	.	.	C	4.574	0.106540	0.08780	.	.	ENSG00000182871	ENST00000423214	T	0.50813	0.73	3.89	-7.79	0.01218	.	0.065468	0.64402	D	0.000007	T	0.47746	0.1462	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60821	-0.7187	7	0.87932	D	0	.	8.1654	0.31224	0.1196:0.5185:0.0:0.3618	.	.	.	.	L	5	ENSP00000415692:P5L	ENSP00000415692:P5L	P	+	2	0	COL18A1	45749713	0.001000	0.12720	0.027000	0.17364	0.339000	0.28857	-2.556000	0.00924	-1.961000	0.01016	0.305000	0.20034	CCG	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000206827.1		+	ENST00000359759.4	Silent	SNP	21 : 46925285 - 46925285 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	149	12
DCAF4	26094	broad.mit.edu	37	14	73407031	73407031	+	Silent	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr14:73407031G>A	ENST00000353777.3	+	4	472	c.297G>A	c.(295-297)aaG>aaA	p.K99K	DCAF4_ENST00000553457.1_5'UTR|DCAF4_ENST00000358377.2_Silent_p.K99K|DCAF4_ENST00000394234.2_5'UTR|DCAF4_ENST00000509153.1_Silent_p.K99K|DCAF4_ENST00000555042.1_Silent_p.K99K			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	109						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TCCGGCAGAAGGAGATGGAGA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	92	92			NA	NA	14		NA											NA				73407031		2203	4300	6503	SO:0001819	synonymous_variant			BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599	26094	26094		WD repeat domain containing, DDB1 and CUL4 associated factors	20229	protein-coding gene	gene with protein product			WD repeat domain 21, WD repeat domain 21A	WDR21, WDR21A	NA		Standard	NM_015604	NM_015604	NA	Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000353777.3:c.297G>A	14.37:g.73407031G>A		NA	Q86U31|Q96K22|Q9Y4P5	37																																																																																				DCAF4-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000361692.1		+	ENST00000353777.3	Silent	SNP	14 : 73407031 - 73407031 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	507	54
DGAT2	84649	broad.mit.edu	37	11	75508352	75508352	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:75508352T>G	ENST00000228027.7	+	6	1044	c.784T>G	c.(784-786)Ttt>Gtt	p.F262V	DGAT2_ENST00000376262.3_Missense_Mutation_p.F219V	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	262					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					CCGCAAGGGCTTTGTGAAACT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(35;811 1096 8354 24009 39363)							NA				0													104	92	96			NA	NA	11		NA											NA				75508352		2200	4293	6493	SO:0001583	missense				CCDS31642.1, CCDS58162.1	11q13.3	2010-06-24	2010-06-24		ENSG00000062282	ENSG00000062282	84649	84649			16940	protein-coding gene	gene with protein product		606983	diacylglycerol O-acyltransferase homolog 2 (mouse)		NA	11481335, 14970677	Standard	NM_032564	NM_032564	NA	Approved		uc001oxa.3	Q96PD7	OTTHUMG00000165338	ENST00000228027.7:c.784T>G	11.37:g.75508352T>G	ENSP00000228027:p.Phe262Val	NA	A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5	37	CCDS31642.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.973141	0.92919	.	.	ENSG00000062282	ENST00000228027;ENST00000376262;ENST00000525612	T;T	0.27104	1.69;1.69	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.63402	0.2508	H	0.95187	3.635	0.80722	D	1	D;D	0.69078	0.997;0.995	D;P	0.75020	0.985;0.852	T	0.75434	-0.3319	10	0.87932	D	0	-9.0259	14.9647	0.71182	0.0:0.0:0.0:1.0	.	219;262	Q96PD7-2;Q96PD7	.;DGAT2_HUMAN	V	262;219;216	ENSP00000228027:F262V;ENSP00000365438:F219V	ENSP00000228027:F262V	F	+	1	0	DGAT2	75186000	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.613000	0.82986	2.217000	0.71921	0.533000	0.62120	TTT	DGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383506.1		+	ENST00000228027.7	Missense_Mutation	SNP	11 : 75508352 - 75508352 G PAAD-TCGA-FB-A7DR-Tumor-SM-54378	568	44
DLX5	1749	broad.mit.edu	37	7	96650202	96650202	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:96650202G>A	ENST00000222598.4	-	3	1189	c.716C>T	c.(715-717)gCc>gTc	p.A239V	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	239					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CGGAGGGTGGGCATGAGGGTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	59	62			NA	NA	7		NA											NA				96650202		2203	4300	6503	SO:0001583	missense				CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880	1749	1749		Homeoboxes / ANTP class : NKL subclass	2918	protein-coding gene	gene with protein product		600028	distal-less homeo box 5		NA	7907794	Standard		XM_005250185	NA	Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.716C>T	7.37:g.96650202G>A	ENSP00000222598:p.Ala239Val	NA	Q9UPL1	37	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722151	0.30503	.	.	ENSG00000105880	ENST00000222598	D	0.89485	-2.52	4.78	3.83	0.44106	.	0.237757	0.41500	D	0.000866	T	0.79131	0.4394	N	0.14661	0.345	0.33696	D	0.613921	B	0.02656	0.0	B	0.06405	0.002	T	0.75714	-0.3221	10	0.16896	T	0.51	-10.0935	16.1307	0.81436	0.0:0.2143:0.7857:0.0	.	239	P56178	DLX5_HUMAN	V	239	ENSP00000222598:A239V	ENSP00000222598:A239V	A	-	2	0	DLX5	96488138	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.803000	0.38863	2.640000	0.89533	0.655000	0.94253	GCC	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334371.2		-	ENST00000222598.4	Missense_Mutation	SNP	7 : 96650202 - 96650202 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	355	5
DNAH11	8701	broad.mit.edu	37	7	21751430	21751430	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:21751430C>A	ENST00000409508.3	+	42	6966	c.6935C>A	c.(6934-6936)tCc>tAc	p.S2312Y	DNAH11_ENST00000328843.6_Missense_Mutation_p.S2319Y	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2319	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCCACTGTTTCCAGAGCTGGT	0.448		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	90	90			NA	NA	7		NA											NA				21751430		1927	4138	6065	SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04				8701	8701		Axonemal dyneins	2942	protein-coding gene	gene with protein product	dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like	603339	dynein, axonemal, heavy polypeptide 11		NA	9256245	Standard	NM_003777	NM_001277115	NA	Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6935C>A	7.37:g.21751430C>A	ENSP00000475939:p.Ser2312Tyr	NA	Q9UJ82	37		.	.	.	.	.	.	.	.	.	.	C	27.6	4.849960	0.91277	.	.	ENSG00000105877	ENST00000328843	D	0.94897	-3.55	5.81	5.81	0.92471	ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.97483	0.9176	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97804	1.0246	9	0.87932	D	0	.	18.8497	0.92222	0.0:1.0:0.0:0.0	.	2319	Q96DT5	DYH11_HUMAN	Y	2319	ENSP00000330671:S2319Y	ENSP00000330671:S2319Y	S	+	2	0	DNAH11	21717955	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.763000	0.85283	2.746000	0.94184	0.655000	0.94253	TCC	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000326582.6		+	ENST00000409508.3	Missense_Mutation	SNP	7 : 21751430 - 21751430 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	225	30
DNAH5	1767	broad.mit.edu	37	5	13900350	13900350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr5:13900350G>A	ENST00000265104.4	-	15	2328	c.2224C>T	c.(2224-2226)Cga>Tga	p.R742*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	742	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATCTATCTCGTTTCTGGAAG	0.383		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	90	88			NA	NA	5		NA											NA				13900350		2203	4300	6503	SO:0001587	stop_gained	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139	1767	1767		Axonemal dyneins	2950	protein-coding gene	gene with protein product	dynein heavy chain 5	603335	dynein, axonemal, heavy polypeptide 5		NA	9256245, 11788826	Standard	NM_001369	NM_001369	NA	Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2224C>T	5.37:g.13900350G>A	ENSP00000265104:p.Arg742*	NA	Q92860|Q96L74|Q9H5S7|Q9HCG9	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	41	8.988110	0.99027	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.51	4.62	0.57501	.	0.201566	0.44483	D	0.000443	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	13.6347	0.62215	0.0:0.0:0.6611:0.3389	.	.	.	.	X	742	.	ENSP00000265104:R742X	R	-	1	2	DNAH5	13953350	1.000000	0.71417	0.997000	0.53966	0.937000	0.57800	2.310000	0.43708	1.298000	0.44778	0.655000	0.94253	CGA	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207057.2		-	ENST00000265104.4	Nonsense_Mutation	SNP	5 : 13900350 - 13900350 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	353	6
DNAJB11	51726	broad.mit.edu	37	3	186299863	186299863	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:186299863G>A	ENST00000439351.1	+	7	1608	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	DNAJB11_ENST00000265028.3_Missense_Mutation_p.E227K			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	227					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CTTTATTGGAGAAGGTGAAAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	105	103			NA	NA	3		NA											NA				186299863		2203	4300	6503	SO:0001583	missense			AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520	51726	51726		Heat shock proteins / DNAJ (HSP40)	14889	protein-coding gene	gene with protein product		611341			NA	10827079, 11147971	Standard		NM_016306	NA	Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.679G>A	3.37:g.186299863G>A	ENSP00000414398:p.Glu227Lys	NA	Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	37	CCDS3277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.699136|5.699136	0.96802|0.96802	.|.	.|.	ENSG00000090520|ENSG00000090520	ENST00000439351;ENST00000265028|ENST00000418776	T;T|.	0.44083|.	0.93;0.93|.	5.86|5.86	5.86|5.86	0.93980|0.93980	HSP40/DnaJ peptide-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77611|0.77611	0.4156|0.4156	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.76071|.	0.987|.	T|T	0.77117|0.77117	-0.2706|-0.2706	10|5	0.72032|.	D|.	0.01|.	-28.7873|-28.7873	17.6803|17.6803	0.88241|0.88241	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	227|.	Q9UBS4|.	DJB11_HUMAN|.	K|K	227|27	ENSP00000414398:E227K;ENSP00000265028:E227K|.	ENSP00000265028:E227K|.	E|R	+|+	1|2	0|0	DNAJB11|DNAJB11	187782557|187782557	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.797000|9.797000	0.99108|0.99108	2.775000|2.775000	0.95449|0.95449	0.655000|0.655000	0.94253|0.94253	GAA|AGA	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344779.1		+	ENST00000439351.1	Missense_Mutation	SNP	3 : 186299863 - 186299863 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	218	19
GPR124	25960	broad.mit.edu	37	8	37690642	37690642	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr8:37690642C>A	ENST00000315215.7	+	9	1575	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	GPR124_ENST00000412232.2_Missense_Mutation_p.D404E			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	404					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCCGGTGTGACCGTGCCGGCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	46	45			NA	NA	8		NA											NA				37690642		2203	4300	6503	SO:0001583	missense			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181	25960	25960		-, GPCR / Class B : Orphans, Immunoglobulin superfamily / Immunoglobulin-like domain containing	17849	protein-coding gene	gene with protein product	tumor endothelial marker 5	606823			NA	11559528, 12565841	Standard		NM_032777	NA	Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000315215.7:c.1212C>A	8.37:g.37690642C>A	ENSP00000323508:p.Asp404Glu	NA	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	37		.	.	.	.	.	.	.	.	.	.	C	27.3	4.822543	0.90873	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.46451	0.87;0.87	5.11	5.11	0.69529	GPCR, family 2, extracellular hormone receptor domain (2);	0.000000	0.85682	D	0.000000	T	0.51601	0.1684	L	0.47716	1.5	0.54753	D	0.999981	P;P	0.52463	0.537;0.953	B;P	0.52881	0.413;0.712	T	0.52859	-0.8519	10	0.54805	T	0.06	-37.8681	18.5505	0.91062	0.0:1.0:0.0:0.0	.	404;404	Q96PE1-2;Q96PE1	.;GP124_HUMAN	E	397;404;404	ENSP00000323508:D404E;ENSP00000406367:D404E	ENSP00000323508:D404E	D	+	3	2	GPR124	37809800	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.615000	0.46368	2.374000	0.81015	0.655000	0.94253	GAC	GPR124-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000343332.3		+	ENST00000315215.7	Missense_Mutation	SNP	8 : 37690642 - 37690642 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	456	69
GRIA1	2890	broad.mit.edu	37	5	153035414	153035414	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr5:153035414C>G	ENST00000518783.1	+	5	738	c.711C>G	c.(709-711)caC>caG	p.H237Q	GRIA1_ENST00000521843.2_Missense_Mutation_p.H158Q|GRIA1_ENST00000448073.4_Missense_Mutation_p.H237Q|GRIA1_ENST00000285900.5_Missense_Mutation_p.H227Q|GRIA1_ENST00000340592.5_Missense_Mutation_p.H227Q|GRIA1_ENST00000518142.1_Missense_Mutation_p.H147Q	NM_001258021.1	NP_001244950.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	227					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCGGCTACCACTACATTCTTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	113	117			NA	NA	5		NA											NA				153035414		2203	4300	6503	SO:0001583	missense				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511	NA	2890		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4571	protein-coding gene	gene with protein product		138248		GLUR1	NA	1652753, 1319477	Standard		NM_000827	NA	Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000518783.1:c.711C>G	5.37:g.153035414C>G	ENSP00000428994:p.His237Gln	NA	D3DQI4|Q2NKM6	37	CCDS58987.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743142	0.69418	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	4.84	3.96	0.45880	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89090	0.6616	M	0.76170	2.325	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.85130	0.997;0.997;0.994;0.997;0.995;0.933	D	0.88908	0.3357	10	0.87932	D	0	.	8.8863	0.35404	0.0:0.8283:0.0:0.1717	.	237;237;147;237;227;227	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	Q	227;227;147;181;227;158;158;237;237	ENSP00000285900:H227Q;ENSP00000427920:H147Q;ENSP00000339343:H227Q;ENSP00000427864:H158Q;ENSP00000442108:H158Q;ENSP00000428994:H237Q;ENSP00000415569:H237Q	ENSP00000285900:H227Q	H	+	3	2	GRIA1	153015607	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.283000	0.43470	1.151000	0.42436	0.551000	0.68910	CAC	GRIA1-007	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373902.3		+	ENST00000518783.1	Missense_Mutation	SNP	5 : 153035414 - 153035414 G PAAD-TCGA-FB-A7DR-Tumor-SM-54378	504	69
KCNB2	9312	broad.mit.edu	37	8	73848509	73848509	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr8:73848509C>T	ENST00000523207.1	+	3	1507	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	307					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCGAATCATGCGCATCCTCAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	78	79			NA	NA	8		NA											NA				73848509		2203	4300	6503	SO:0001583	missense			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674	9312	9312		Potassium channels, Voltage-gated ion channels / Potassium channels	6232	protein-coding gene	gene with protein product		607738			NA	9612272, 16382104	Standard	NM_004770	NM_004770	NA	Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.919C>T	8.37:g.73848509C>T	ENSP00000430846:p.Arg307Cys	NA	Q7Z7D0|Q9BXD3	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143914	0.77888	.	.	ENSG00000182674	ENST00000523207	D	0.99652	-6.3	5.74	3.75	0.43078	Ion transport (1);	0.000000	0.41938	D	0.000795	D	0.99785	0.9910	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96937	0.9685	10	0.87932	D	0	.	13.6379	0.62233	0.4279:0.5721:0.0:0.0	.	307	Q92953	KCNB2_HUMAN	C	307	ENSP00000430846:R307C	ENSP00000430846:R307C	R	+	1	0	KCNB2	74011063	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	1.549000	0.36212	1.409000	0.46915	0.655000	0.94253	CGC	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378998.1		+	ENST00000523207.1	Missense_Mutation	SNP	8 : 73848509 - 73848509 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	362	5
KCNH6	81033	broad.mit.edu	37	17	61607501	61607501	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:61607501C>T	ENST00000583023.1	+	3	368	c.357C>T	c.(355-357)gaC>gaT	p.D119D	KCNH6_ENST00000314672.5_Silent_p.D119D|KCNH6_ENST00000581784.1_Silent_p.D119D|KCNH6_ENST00000580652.1_Silent_p.D119D|KCNH6_ENST00000456941.2_Silent_p.D119D	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	119	PAC.				regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGAACGAGGACGGGGCTGTCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	86	91			NA	NA	17		NA											NA				61607501		2203	4300	6503	SO:0001819	synonymous_variant			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826	81033	81033		Potassium channels, Voltage-gated ion channels / Potassium channels	18862	protein-coding gene	gene with protein product		608168			NA	16382104	Standard	NM_030779	NM_030779	NA	Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.357C>T	17.37:g.61607501C>T		NA	Q9BRD7	37	CCDS11638.1																																																																																			KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443853.1		+	ENST00000583023.1	Silent	SNP	17 : 61607501 - 61607501 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	366	29
KCNJ3	3760	broad.mit.edu	37	2	155566225	155566225	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:155566225C>T	ENST00000295101.2	+	2	1290	c.813C>T	c.(811-813)tgC>tgT	p.C271C	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_Intron	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	271				C -> R (in Ref. 3; AAH22495).	synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCACAATTTGCCACGTGATCG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	105	109			NA	NA	2		NA											NA				155566225		2203	4300	6503	SO:0001819	synonymous_variant			U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989	3760	3760		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6264	protein-coding gene	gene with protein product		601534			NA	8088798, 16382105	Standard	NM_002239	NM_002239	NA	Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.813C>T	2.37:g.155566225C>T		NA	Q8TBI0	37	CCDS2200.1																																																																																			KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254890.2		+	ENST00000295101.2	Silent	SNP	2 : 155566225 - 155566225 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	393	5
KIAA0232	9778	broad.mit.edu	37	4	6865606	6865606	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr4:6865606G>T	ENST00000307659.5	+	7	3952	c.3497G>T	c.(3496-3498)gGa>gTa	p.G1166V	KIAA0232_ENST00000425103.1_Missense_Mutation_p.G1166V	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1166							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CATTACTATGGAAAATCAGAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	59	60			NA	NA	4		NA											NA				6865606		1814	4072	5886	SO:0001583	missense			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871	9778	9778			28992	protein-coding gene	gene with protein product					NA	9039502	Standard	NM_014743	NM_014743	NA	Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.3497G>T	4.37:g.6865606G>T	ENSP00000303928:p.Gly1166Val	NA	A7E2D2	37	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192861	0.78902	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.68302	0.2986	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.71790	-0.4486	9	0.87932	D	0	-13.2945	18.5601	0.91097	0.0:0.0:1.0:0.0	.	1166	Q92628	K0232_HUMAN	V	1166	.	ENSP00000303928:G1166V	G	+	2	0	KIAA0232	6916507	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	7.330000	0.79181	2.550000	0.86006	0.655000	0.94253	GGA	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359102.2		+	ENST00000307659.5	Missense_Mutation	SNP	4 : 6865606 - 6865606 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	435	52
KIAA0907	22889	broad.mit.edu	37	1	155891246	155891246	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:155891246G>A	ENST00000368320.3	-	10	1211	c.1186C>T	c.(1186-1188)Ccg>Tcg	p.P396S	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.P396S|KIAA0907_ENST00000368319.3_Missense_Mutation_p.A362V			Q7Z7F0	K0907_HUMAN	KIAA0907	396	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GGTAATGCCGGCAAGACTCCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	107	111			NA	NA	1		NA											NA				155891246		2203	4300	6503	SO:0001583	missense			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680	22889	22889			29145	protein-coding gene	gene with protein product					NA	10048485	Standard	NM_014949	NM_014949	NA	Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368320.3:c.1186C>T	1.37:g.155891246G>A	ENSP00000357303:p.Pro396Ser	NA	O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.34|11.34	1.608758|1.608758	0.28623|0.28623	.|.	.|.	ENSG00000132680|ENSG00000132680	ENST00000368319|ENST00000368321;ENST00000368320	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.190917	.|0.45606	.|D	.|0.000341	T|T	0.15046|0.15046	0.0363|0.0363	N|N	0.19112|0.19112	0.55|0.55	0.27175|0.27175	N|N	0.960829|0.960829	B|B;B	0.24426|0.33612	0.103|0.419;0.197	B|B;B	0.25405|0.35353	0.06|0.201;0.201	T|T	0.08722|0.08722	-1.0708|-1.0708	8|9	0.25751|0.23302	T|T	0.34|0.38	-6.9965|-6.9965	14.0208|14.0208	0.64553|0.64553	0.0:0.0:0.8483:0.1517|0.0:0.0:0.8483:0.1517	.|.	362|396;396	Q7Z7F0-3|Q7Z7F0-2;Q7Z7F0	.|.;K0907_HUMAN	V|S	362|396	.|.	ENSP00000357302:A362V|ENSP00000357303:P396S	A|P	-|-	2|1	0|0	KIAA0907|KIAA0907	154157870|154157870	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.838000|0.838000	0.47535|0.47535	2.029000|2.029000	0.41098|0.41098	2.644000|2.644000	0.89710|0.89710	0.491000|0.491000	0.48974|0.48974	GCC|CCG	KIAA0907-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000039585.1		-	ENST00000368320.3	Missense_Mutation	SNP	1 : 155891246 - 155891246 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	318	6
KLHL26	55295	broad.mit.edu	37	19	18779702	18779702	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:18779702G>A	ENST00000300976.4	+	3	1585	c.1495G>A	c.(1495-1497)Gtg>Atg	p.V499M	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	499								p.V499M(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CGAACCCCGCGTGCTACACGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											39	41	40			NA	NA	19		NA											NA				18779702		2203	4300	6503	SO:0001583	missense				CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487	55295	55295		Kelch-like, BTB/POZ domain containing	25623	protein-coding gene	gene with protein product			kelch-like 26 (Drosophila)		NA		Standard	NM_018316	XM_006722785	NA	Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1495G>A	19.37:g.18779702G>A	ENSP00000300976:p.Val499Met	NA	Q8TAP0|Q9NUX3	37	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040159	0.75732	.	.	ENSG00000167487	ENST00000300976	T	0.67345	-0.26	4.49	4.49	0.54785	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000001	T	0.64811	0.2632	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	P	0.55345	0.774	T	0.64326	-0.6434	9	.	.	.	.	16.1797	0.81890	0.0:0.0:1.0:0.0	.	499	Q53HC5	KLH26_HUMAN	M	499	ENSP00000300976:V499M	.	V	+	1	0	KLHL26	18640702	1.000000	0.71417	0.978000	0.43139	0.927000	0.56198	9.558000	0.98132	2.060000	0.61445	0.462000	0.41574	GTG	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465145.1		+	ENST00000300976.4	Missense_Mutation	SNP	19 : 18779702 - 18779702 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	447	51
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>T	12.37:g.25398284C>A	ENSP00000308495:p.Gly12Val	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	172	17
LRP1B	53353	broad.mit.edu	37	2	141533745	141533745	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:141533745C>T	ENST00000389484.3	-	33	6393	c.5422G>A	c.(5422-5424)Gga>Aga	p.G1808R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1808					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGGTTTCTTCCGTCTCTTTTG	0.388		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0								C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	131	126	128		5422	5.7	1	2		128	0,8600		0,0,4300	no	missense	LRP1B	NM_018557.2	125	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	1808/4600	141533745	1,13005	2203	4300	6503	SO:0001583	missense			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5422G>A	2.37:g.141533745C>T	ENSP00000374135:p.Gly1808Arg	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	32	5.133399	0.94517	2.27E-4	0.0	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94828	-3.53	5.69	5.69	0.88448	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.97791	0.9275	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97891	1.0297	10	0.59425	D	0.04	.	19.8051	0.96529	0.0:1.0:0.0:0.0	.	1808	Q9NZR2	LRP1B_HUMAN	R	1808;1746	ENSP00000374135:G1808R	ENSP00000374135:G1808R	G	-	1	0	LRP1B	141250215	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.692000	0.84203	2.702000	0.92279	0.591000	0.81541	GGA	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Missense_Mutation	SNP	2 : 141533745 - 141533745 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	363	43
MAGEL2	54551	broad.mit.edu	37	15	23890244	23890244	+	Silent	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr15:23890244G>A	ENST00000532292.1	-	1	931	c.837C>T	c.(835-837)tcC>tcT	p.S279S		NM_019066.4	NP_061939.3			MAGE-like 2	NA										breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGGCCTTGCCGGAGCGGCGTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	48	45			NA	NA	15		NA											NA				23890244		2191	4293	6484	SO:0001819	synonymous_variant			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585	54551	54551			6814	protein-coding gene	gene with protein product		605283		NDNL1	NA	10556298	Standard	NM_019066	NM_019066	NA	Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.837C>T	15.37:g.23890244G>A		NA		37		.	.	.	.	.	.	.	.	.	.	g	0.301	-0.974081	0.02215	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.94	-7.88	0.01178	.	.	.	.	.	T	0.16938	0.0407	.	.	.	0.25990	N	0.982262	.	.	.	.	.	.	T	0.05146	-1.0903	4	.	.	.	.	2.4156	0.04435	0.2378:0.3044:0.3511:0.1067	.	.	.	.	L	311	.	.	P	-	2	0	MAGEL2	21441337	0.000000	0.05858	0.001000	0.08648	0.353000	0.29299	-3.032000	0.00637	-4.035000	0.00079	-2.717000	0.00132	CCG	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000395182.2		-	ENST00000532292.1	Silent	SNP	15 : 23890244 - 23890244 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	350	5
MDN1	23195	broad.mit.edu	37	6	90482330	90482330	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr6:90482330C>T	ENST00000369393.3	-	14	2160	c.2045G>A	c.(2044-2046)gGc>gAc	p.G682D	MDN1_ENST00000428876.1_Missense_Mutation_p.G682D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	682					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGAGGTTTTGCCAGTCCCGGT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	134	133			NA	NA	6		NA											NA				90482330		2203	4300	6503	SO:0001583	missense			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159	23195	23195			18302	protein-coding gene	gene with protein product					NA	9205841, 12102729	Standard		XM_005248699	NA	Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2045G>A	6.37:g.90482330C>T	ENSP00000358400:p.Gly682Asp	NA	O15019|Q5T794	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798281	0.50208	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	D;D;D	0.92099	-2.97;-2.97;-2.97	5.65	5.65	0.86999	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.97564	0.9202	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98091	1.0409	10	0.66056	D	0.02	.	19.7199	0.96137	0.0:1.0:0.0:0.0	.	609;682	Q5T795;Q9NU22	.;MDN1_HUMAN	D	682;682;609	ENSP00000358400:G682D;ENSP00000413970:G682D;ENSP00000409664:G609D	ENSP00000358400:G682D	G	-	2	0	MDN1	90539051	1.000000	0.71417	0.999000	0.59377	0.147000	0.21601	7.534000	0.82004	2.665000	0.90641	0.650000	0.86243	GGC	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041514.2		-	ENST00000369393.3	Missense_Mutation	SNP	6 : 90482330 - 90482330 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	633	8
MKX	283078	broad.mit.edu	37	10	28024186	28024186	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:28024186G>A	ENST00000375790.5	-	4	898	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	MKX_ENST00000419761.1_Missense_Mutation_p.R156W			Q8IYA7	MKX_HUMAN	mohawk homeobox	156					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R156W(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						ACGCTAAGCCGTTCAGCATTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											132	135	134			NA	NA	10		NA											NA				28024186		2203	4300	6503	SO:0001583	missense			BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051	283078	283078		Homeoboxes / TALE class	23729	protein-coding gene	gene with protein product		601332	chromosome 10 open reading frame 48, iroquois homeobox protein-like 1	C10orf48, IRXL1	NA	16408284	Standard	NM_173576	NM_173576	NA	Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.466C>T	10.37:g.28024186G>A	ENSP00000364946:p.Arg156Trp	NA	B3KWM5	37	CCDS7156.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539154	0.65085	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	T;T	0.68181	-0.31;-0.31	5.94	2.73	0.32206	.	0.000000	0.85682	D	0.000000	T	0.79393	0.4438	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.82506	-0.0423	10	0.72032	D	0.01	-25.6336	17.3016	0.87183	0.0:0.0:0.7396:0.2604	.	156	Q8IYA7	MKX_HUMAN	W	156	ENSP00000364946:R156W;ENSP00000400896:R156W	ENSP00000364946:R156W	R	-	1	2	MKX	28064192	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.636000	0.37144	0.765000	0.33221	0.563000	0.77884	CGG	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047332.3		-	ENST00000375790.5	Missense_Mutation	SNP	10 : 28024186 - 28024186 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	499	49
NAB2	4665	broad.mit.edu	37	12	57485472	57485472	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:57485472C>T	ENST00000300131.3	+	2	1026	c.648C>T	c.(646-648)gtC>gtT	p.V216V	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Silent_p.V216V|NAB2_ENST00000357680.4_Silent_p.V216V	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	216					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGGGAGGAGTCCCTGAGGGGA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	23	21			NA	NA	12		NA											NA				57485472		2194	4285	6479	SO:0001819	synonymous_variant			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886	4665	4665			7627	protein-coding gene	gene with protein product		602381			NA	8668170, 8649813	Standard	NM_005967	XM_005268894	NA	Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.648C>T	12.37:g.57485472C>T		NA	B2RAK3|O76006|Q14797	37	CCDS8930.1																																																																																			NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412222.1		+	ENST00000300131.3	Silent	SNP	12 : 57485472 - 57485472 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	336	36
NAB2	4665	broad.mit.edu	37	12	57485473	57485473	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:57485473C>T	ENST00000300131.3	+	2	1027	c.649C>T	c.(649-651)Cct>Tct	p.P217S	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Missense_Mutation_p.P217S|NAB2_ENST00000357680.4_Missense_Mutation_p.P217S	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	217					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGGAGGAGTCCCTGAGGGGAC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	23	21			NA	NA	12		NA											NA				57485473		2195	4286	6481	SO:0001583	missense			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886	4665	4665			7627	protein-coding gene	gene with protein product		602381			NA	8668170, 8649813	Standard	NM_005967	XM_005268894	NA	Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.649C>T	12.37:g.57485473C>T	ENSP00000300131:p.Pro217Ser	NA	B2RAK3|O76006|Q14797	37	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277523	0.23307	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.26	1.1	0.20463	NAB co-repressor, domain (1);	0.515541	0.16382	N	0.216849	T	0.17874	0.0429	N	0.04959	-0.14	0.32360	N	0.557363	B	0.02656	0.0	B	0.06405	0.002	T	0.14952	-1.0454	9	0.26408	T	0.33	-0.4543	5.6631	0.17680	0.0:0.6232:0.0:0.3768	.	217	Q15742	NAB2_HUMAN	S	217	.	ENSP00000300131:P217S	P	+	1	0	NAB2	55771740	0.998000	0.40836	0.998000	0.56505	0.945000	0.59286	0.561000	0.23515	0.414000	0.25790	-0.379000	0.06801	CCT	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412222.1		+	ENST00000300131.3	Missense_Mutation	SNP	12 : 57485473 - 57485473 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	343	37
NAB2	4665	broad.mit.edu	37	12	57485474	57485474	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:57485474C>T	ENST00000300131.3	+	2	1028	c.650C>T	c.(649-651)cCt>cTt	p.P217L	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Missense_Mutation_p.P217L|NAB2_ENST00000357680.4_Missense_Mutation_p.P217L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	217					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGAGGAGTCCCTGAGGGGACT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	23	22			NA	NA	12		NA											NA				57485474		2194	4287	6481	SO:0001583	missense			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886	4665	4665			7627	protein-coding gene	gene with protein product		602381			NA	8668170, 8649813	Standard	NM_005967	XM_005268894	NA	Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.650C>T	12.37:g.57485474C>T	ENSP00000300131:p.Pro217Leu	NA	B2RAK3|O76006|Q14797	37	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.406747	0.42715	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.26	4.26	0.50523	NAB co-repressor, domain (1);	0.515541	0.16382	N	0.216849	T	0.44095	0.1277	N	0.19112	0.55	0.46131	D	0.998884	B	0.15473	0.013	B	0.22152	0.038	T	0.43081	-0.9413	9	0.62326	D	0.03	-0.4543	12.0506	0.53505	0.0:1.0:0.0:0.0	.	217	Q15742	NAB2_HUMAN	L	217	.	ENSP00000300131:P217L	P	+	2	0	NAB2	55771741	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.558000	0.60789	2.186000	0.69663	0.462000	0.41574	CCT	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412222.1		+	ENST00000300131.3	Missense_Mutation	SNP	12 : 57485474 - 57485474 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	346	38
NMT2	9397	broad.mit.edu	37	10	15183511	15183511	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:15183511C>T	ENST00000378150.1	-	2	171	c.74G>A	c.(73-75)aGa>aAa	p.R25K	NMT2_ENST00000535341.1_Missense_Mutation_p.R25K|NMT2_ENST00000378165.4_Silent_p.Q52Q|NMT2_ENST00000540259.1_5'UTR			O60551	NMT2_HUMAN	N-myristoyltransferase 2	50					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						tttttctcttctgtttcttct	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(117;1345 1645 4130 12688 30625)							NA				0													106	113	111			NA	NA	10		NA											NA				15183511		2203	4300	6503	SO:0001583	missense			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465	9397	9397			7858	protein-coding gene	gene with protein product		603801			NA	9506952	Standard	NM_004808	NM_004808	NA	Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378150.1:c.74G>A	10.37:g.15183511C>T	ENSP00000367392:p.Arg25Lys	NA	B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	37		.	.	.	.	.	.	.	.	.	.	C	6.517	0.463646	0.12402	.	.	ENSG00000152465	ENST00000378150;ENST00000535341	.	.	.	5.91	3.98	0.46160	.	.	.	.	.	T	0.39886	0.1095	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11842	-1.0571	7	0.18276	T	0.48	-17.0393	8.748	0.34598	0.0:0.7525:0.0:0.2475	.	25	Q5VUC6	.	K	25	.	ENSP00000367392:R25K	R	-	2	0	NMT2	15223517	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.083000	0.30815	0.739000	0.32628	0.655000	0.94253	AGA	NMT2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000046959.1		-	ENST00000378150.1	Missense_Mutation	SNP	10 : 15183511 - 15183511 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	276	28
NTN5	126147	broad.mit.edu	37	19	49174003	49174003	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:49174003G>A	ENST00000270235.4	-	2	336	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	81						extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						GTACAGAAGCGCAAGCTGACA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	26	25			NA	NA	19		NA											NA				49174003		2203	4299	6502	SO:0001583	missense				CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233	126147	126147		Netrins	25208	protein-coding gene	gene with protein product	Netrin-5				NA	12477932	Standard	NM_145807	NM_145807	NA	Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.241C>T	19.37:g.49174003G>A	ENSP00000270235:p.Arg81Cys	NA	Q8N4X9|Q8WU63	37	CCDS33068.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045563	0.75846	.	.	ENSG00000142233	ENST00000270235	T	0.30182	1.54	4.94	4.94	0.65067	.	0.070656	0.64402	D	0.000009	T	0.39627	0.1085	M	0.71581	2.175	0.50171	D	0.999855	P;D	0.60575	0.559;0.988	B;P	0.46339	0.118;0.513	T	0.44802	-0.9304	10	0.87932	D	0	.	14.0319	0.64619	0.0:0.0:1.0:0.0	.	81;81	Q8WTR8-2;Q8WTR8	.;NET5_HUMAN	C	81	ENSP00000270235:R81C	ENSP00000270235:R81C	R	-	1	0	NTN5	53865815	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.236000	0.58675	2.466000	0.83321	0.455000	0.32223	CGC	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466176.1		-	ENST00000270235.4	Missense_Mutation	SNP	19 : 49174003 - 49174003 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	191	28
NTRK1	4914	broad.mit.edu	37	1	156845430	156845430	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:156845430C>T	ENST00000368196.3	+	11	1575	c.1455C>T	c.(1453-1455)atC>atT	p.I485I	NTRK1_ENST00000392302.2_Silent_p.I455I|NTRK1_ENST00000524377.1_Silent_p.I491I|NTRK1_ENST00000358660.3_Silent_p.I485I	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	491	Interaction with SQSTM1 (By similarity).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GCCACATCATCGAGAACCCAC	0.577		NA	T	TPM3, TPR, TFG	papillary thyroid					TSP Lung(10;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q21-q22	4914	neurotrophic tyrosine kinase, receptor, type 1		E	0								C	,,	0,4406		0,0,2203	99	80	86		1365,1455,1473	-6.2	0.9	1		86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	NTRK1	NM_001007792.1,NM_001012331.1,NM_002529.3	,,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,,	455/761,485/791,491/797	156845430	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	4914	4914	2.7.10.1	Immunoglobulin superfamily / Immunoglobulin-like domain containing	8031	protein-coding gene	gene with protein product	high affinity nerve growth factor receptor	191315			NA	2869410	Standard	NM_002529	NM_001007792	NA	Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000368196.3:c.1455C>T	1.37:g.156845430C>T		NA	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	37	CCDS30891.1																																																																																			NTRK1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098979.1		+	ENST00000368196.3	Silent	SNP	1 : 156845430 - 156845430 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	459	46
OR14A16	284532	broad.mit.edu	37	1	247978219	247978219	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:247978219A>C	ENST00000357627.1	-	1	812	c.813T>G	c.(811-813)atT>atG	p.I271M		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AGAACACAGAAATTACAGCAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(112;180 1586 15073 21914 33526)							NA				0													70	69	70			NA	NA	1		NA											NA				247978219		2203	4300	6503	SO:0001583	missense			BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772	284532	284532		GPCR / Class A : Olfactory receptors	15022	protein-coding gene	gene with protein product			olfactory receptor, family 5, subfamily AT, member 1	OR5AT1	NA		Standard	NM_001001966	NM_001001966	NA	Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.813T>G	1.37:g.247978219A>C	ENSP00000350248:p.Ile271Met	NA	Q6IF96	37	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	A	4.676	0.125780	0.08931	.	.	ENSG00000196772	ENST00000357627	T	0.40756	1.02	3.69	-7.39	0.01402	GPCR, rhodopsin-like superfamily (1);	1.153840	0.06660	N	0.764355	T	0.21962	0.0529	N	0.25245	0.725	0.09310	N	1	B	0.15141	0.012	B	0.20577	0.03	T	0.22173	-1.0224	10	0.45353	T	0.12	.	2.4227	0.04452	0.3075:0.1836:0.0686:0.4404	.	271	Q8NHC5	O14AG_HUMAN	M	271	ENSP00000350248:I271M	ENSP00000350248:I271M	I	-	3	3	OR14A16	246044842	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-3.567000	0.00428	-1.824000	0.01209	-0.448000	0.05591	ATT	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096856.1		-	ENST00000357627.1	Missense_Mutation	SNP	1 : 247978219 - 247978219 C PAAD-TCGA-FB-A7DR-Tumor-SM-54378	337	45
OR1C1	26188	broad.mit.edu	37	1	247921083	247921083	+	Missense_Mutation	SNP	G	G	A	rs12068080	by1000genomes	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:247921083G>A	ENST00000408896.2	-	1	899	c.626C>T	c.(625-627)aCg>aTg	p.T209M		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	209			T -> M (in dbSNP:rs12068080).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GACAAGGGGCGTGAGAGCCAA	0.473		NA											g	12	0.01	0.02	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0055	0.9966	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								G	MET/THR	62,4032		0,62,1985	58	57	57		626	-3.3	0	1	dbSNP_120	57	1,8405		0,1,4202	yes	missense	OR1C1	NM_012353.2	81	0,63,6187	AA,AG,GG	NA	0.0119,1.5144,0.504	probably-damaging	209/315	247921083	63,12437	2047	4203	6250	SO:0001583	missense			X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888	26188	26188		GPCR / Class A : Olfactory receptors	8182	protein-coding gene	gene with protein product					NA	9119360	Standard		NM_012353	NA	Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.626C>T	1.37:g.247921083G>A	ENSP00000386138:p.Thr209Met	NA	B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	37	CCDS41481.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	g	4.820	0.152470	0.09185	0.015144	1.19E-4	ENSG00000221888	ENST00000408896	T	0.37411	1.2	3.22	-3.26	0.05064	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.24812	0.0602	L	0.42686	1.345	0.09310	N	1	D	0.71674	0.998	D	0.65773	0.938	T	0.25502	-1.0130	9	0.32370	T	0.25	.	5.7833	0.18318	0.3419:0.2093:0.4488:0.0	rs12068080;rs12068080	209	Q15619	OR1C1_HUMAN	M	209	ENSP00000386138:T209M	ENSP00000386138:T209M	T	-	2	0	OR1C1	245987706	0.000000	0.05858	0.005000	0.12908	0.061000	0.15899	-4.513000	0.00222	-0.408000	0.07565	-0.186000	0.12905	ACG	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096855.1		-	ENST00000408896.2	Missense_Mutation	SNP	1 : 247921083 - 247921083 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	280	32
OR2T3	343173	broad.mit.edu	37	1	248636948	248636948	+	Silent	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:248636948G>A	ENST00000359594.2	+	1	322	c.297G>A	c.(295-297)ccG>ccA	p.P99P		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCATTTCCCCGTCAGGCTGTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A		1,4377	821.9+/-416.4	0,1,2188	90	80	83		297	-5.3	0	1		83	1,8595	818.9+/-406.8	0,1,4297	no	coding-synonymous	OR2T3	NM_001005495.1		0,2,6485	AA,AG,GG	NA	0.0116,0.0228,0.0154		99/319	248636948	2,12972	2189	4298	6487	SO:0001819	synonymous_variant				CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539	343173	343173		GPCR / Class A : Olfactory receptors	14727	protein-coding gene	gene with protein product					NA		Standard	NM_001005495	NM_001005495	NA	Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.297G>A	1.37:g.248636948G>A		NA	B2RNJ1	37	CCDS31117.1																																																																																			OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097348.1		+	ENST00000359594.2	Silent	SNP	1 : 248636948 - 248636948 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	482	48
PAM16	51025	broad.mit.edu	37	16	4391484	4391484	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr16:4391484G>T	ENST00000571941.1	-	4	337	c.170C>A	c.(169-171)gCc>gAc	p.A57D	CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.A960D|CORO7-PAM16_ENST00000572274.1_5'UTR|PAM16_ENST00000318059.3_Missense_Mutation_p.A37D|PAM16_ENST00000575848.1_Missense_Mutation_p.A49D|PAM16_ENST00000576217.1_Missense_Mutation_p.A37D|PAM16_ENST00000577031.1_Missense_Mutation_p.A37D|PAM16_ENST00000573553.1_Missense_Mutation_p.A57D					presequence translocase-associated motor 16 homolog (S. cerevisiae)	NA										lung(3)	3						GCGTCCTCGGGCATCAGCTGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	27	28			NA	NA	16		NA											NA				4391484		2188	4294	6482	SO:0001583	missense			AK026514	CCDS10512.1	16p13.3	2010-10-12	2010-10-12		ENSG00000217930	ENSG00000217930	51025	51025			29679	protein-coding gene	gene with protein product	mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction	614336			NA	10810093, 11750097	Standard	NM_016069	NM_016069	NA	Approved	Magmas, Tim16, TIMM16		Q9Y3D7	OTTHUMG00000129466	ENST00000571941.1:c.170C>A	16.37:g.4391484G>T	ENSP00000460708:p.Ala57Asp	NA		37		.	.	.	.	.	.	.	.	.	.	G	29.6	5.016415	0.93404	.	.	ENSG00000217930	ENST00000318059	T	0.54279	0.58	6.11	5.15	0.70609	.	.	.	.	.	T	0.68265	0.2982	M	0.83692	2.655	0.35624	D	0.809663	D	0.59357	0.985	P	0.52598	0.703	T	0.79899	-0.1608	9	0.51188	T	0.08	-2.0591	17.1075	0.86667	0.0:0.1268:0.8732:0.0	.	37	Q9Y3D7	TIM16_HUMAN	D	37	ENSP00000315693:A37D	ENSP00000315693:A37D	A	-	2	0	PAM16	4331485	1.000000	0.71417	0.378000	0.26068	0.980000	0.70556	7.482000	0.81143	1.574000	0.49760	0.655000	0.94253	GCC	PAM16-012	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438319.1		-	ENST00000571941.1	Missense_Mutation	SNP	16 : 4391484 - 4391484 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	121	10
PDC	5132	broad.mit.edu	37	1	186413293	186413293	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:186413293G>A	ENST00000391997.2	-	4	646	c.559C>T	c.(559-561)Cct>Tct	p.P187S	PDC_ENST00000340129.5_Missense_Mutation_p.P187S|PDC_ENST00000497198.1_Missense_Mutation_p.P135S|PDC_ENST00000456239.2_Missense_Mutation_p.P135S	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	187					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		AGCAGTGTAGGAAGTACATCT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	83	83			NA	NA	1		NA											NA				186413293		2203	4300	6503	SO:0001583	missense			AF076464	CCDS1370.1, CCDS41447.1	1q25.2	2013-01-08			ENSG00000116703	ENSG00000116703	5132	5132			8759	protein-coding gene	gene with protein product		171490			NA	8288249	Standard	NM_022577	NM_022576	NA	Approved	MEKA	uc001gsa.4	P20941	OTTHUMG00000035575	ENST00000391997.2:c.559C>T	1.37:g.186413293G>A	ENSP00000375855:p.Pro187Ser	NA	Q14816	37	CCDS1370.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182182	0.78677	.	.	ENSG00000116703	ENST00000391997;ENST00000497198;ENST00000456239;ENST00000340129	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.58	5.58	0.84498	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.91078	0.7192	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92576	0.6070	10	0.87932	D	0	-13.1742	19.5743	0.95436	0.0:0.0:1.0:0.0	.	187	P20941	PHOS_HUMAN	S	187;135;135;187	ENSP00000375855:P187S;ENSP00000422775:P135S;ENSP00000411564:P135S;ENSP00000342033:P187S	ENSP00000342033:P187S	P	-	1	0	PDC	184679916	1.000000	0.71417	0.991000	0.47740	0.657000	0.38888	9.338000	0.96553	2.611000	0.88343	0.655000	0.94253	CCT	PDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086347.2		-	ENST00000391997.2	Missense_Mutation	SNP	1 : 186413293 - 186413293 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	592	50
PDE4DIP	9659	broad.mit.edu	37	1	144859863	144859863	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:144859863T>G	ENST00000530740.1	-	40	6514	c.6476A>C	c.(6475-6477)cAg>cCg	p.Q2159P	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q2074P|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q2210P|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q2074P|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1968P			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2074					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCCAGCTGCTGTTGCAGCTG	0.597		NA	T	PDGFRB	MPD									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													68	65	66			NA	NA	1		NA											NA				144859863		2203	4298	6501	SO:0001583	missense			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104	9659	9659			15580	protein-coding gene	gene with protein product	myomegalin	608117	cardiomyopathy associated 2	CMYA2	NA	9455484, 11134006	Standard	NM_022359	NM_022359	NA	Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.6476A>C	1.37:g.144859863T>G	ENSP00000435654:p.Gln2159Pro	NA	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	37		.	.	.	.	.	.	.	.	.	.	T	11.31	1.600461	0.28534	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01871	4.59;4.68;4.67;4.69;4.68	5.1	2.66	0.31614	.	.	.	.	.	T	0.04724	0.0128	M	0.79475	2.455	0.80722	D	1	B;D	0.67145	0.001;0.996	B;D	0.72982	0.002;0.979	T	0.15867	-1.0422	9	0.62326	D	0.03	.	6.8888	0.24218	0.1496:0.0:0.1565:0.6939	.	1968;2074	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	P	1968;2074;2074;2159;2210	ENSP00000327209:Q1968P;ENSP00000358360:Q2074P;ENSP00000358363:Q2074P;ENSP00000435654:Q2159P;ENSP00000358366:Q2210P	ENSP00000327209:Q1968P	Q	-	2	0	PDE4DIP	143571220	1.000000	0.71417	0.148000	0.22405	0.005000	0.04900	2.927000	0.48900	0.322000	0.23283	-0.321000	0.08615	CAG	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000384663.2		-	ENST00000530740.1	Missense_Mutation	SNP	1 : 144859863 - 144859863 G PAAD-TCGA-FB-A7DR-Tumor-SM-54378	651	32
PIWIL3	440822	broad.mit.edu	37	22	25150021	25150021	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr22:25150021delC	ENST00000332271.5	-	8	1353	c.937delG	c.(937-939)gaafs	p.E313fs	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Frame_Shift_Del_p.E204fs|PIWIL3_ENST00000527701.1_Frame_Shift_Del_p.E204fs	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	313	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTAGTTACTTCCTCTCGGATG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	118	117			NA	NA	22		NA											NA				25150021		2203	4300	6503	SO:0001589	frameshift_variant			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571	440822	440822		Argonaute/PIWI family	18443	protein-coding gene	gene with protein product		610314	piwi-like 3 (Drosophila)		NA	12906857	Standard	NM_001008496	NM_001008496	NA	Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.937delG	22.37:g.25150021delC	ENSP00000330031:p.Glu313fs	NA		37	CCDS33623.1																																																																																			PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320084.2		-	ENST00000332271.5	Frame_Shift_Del	DEL	22 : 25150021 - 25150021 - PAAD-TCGA-FB-A7DR-Tumor-SM-54378	449	66
PLXNA2	5362	broad.mit.edu	37	1	208225740	208225740	+	Silent	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:208225740G>A	ENST00000367033.3	-	15	3682	c.2925C>T	c.(2923-2925)acC>acT	p.T975T		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	975	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTAATGGCCGGTAATGGTCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	95	97			NA	NA	1		NA											NA				208225740		2203	4300	6503	SO:0001819	synonymous_variant			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356	5362	5362		Plexins	9100	protein-coding gene	gene with protein product	plexin 2, plexin-A2, semaphorin receptor OCT, transmembrane protein OCT	601054		PLXN2	NA	8570614	Standard	NM_025179	NM_025179	NA	Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2925C>T	1.37:g.208225740G>A		NA	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	37	CCDS31013.1																																																																																			PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088932.6		-	ENST00000367033.3	Silent	SNP	1 : 208225740 - 208225740 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	470	6
RTKN2	219790	broad.mit.edu	37	10	63957932	63957932	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:63957932G>T	ENST00000373789.3	-	12	1661	c.1565C>A	c.(1564-1566)aCa>aAa	p.T522K	RTKN2_ENST00000395265.1_Intron|RTKN2_ENST00000315289.2_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	522					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CAATTGATCTGTGTTACTCTG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													240	235	237			NA	NA	10		NA											NA				63957932		2203	4300	6503	SO:0001583	missense			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010	219790	219790		Pleckstrin homology (PH) domain containing	19364	protein-coding gene	gene with protein product			pleckstrin homology domain containing, family K member 1	PLEKHK1	NA	15504364	Standard	NM_145307	NM_001282941	NA	Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1565C>A	10.37:g.63957932G>T	ENSP00000362894:p.Thr522Lys	NA	Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	37	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	G	4.170	0.030012	0.08101	.	.	ENSG00000182010	ENST00000373789	T	0.29655	1.56	5.61	-2.95	0.05564	.	1.290860	0.05176	N	0.500444	T	0.12008	0.0292	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19582	-1.0301	10	0.06236	T	0.91	0.1478	0.7642	0.01012	0.204:0.1894:0.3173:0.2893	.	522	Q8IZC4	RTKN2_HUMAN	K	522	ENSP00000362894:T522K	ENSP00000362894:T522K	T	-	2	0	RTKN2	63627938	0.000000	0.05858	0.005000	0.12908	0.943000	0.58893	0.206000	0.17375	-0.304000	0.08843	0.655000	0.94253	ACA	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091618.1		-	ENST00000373789.3	Missense_Mutation	SNP	10 : 63957932 - 63957932 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	1084	110
SLC16A3	9123	broad.mit.edu	37	17	80194631	80194631	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:80194631C>T	ENST00000581287.1	+	2	2572	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	SLC16A3_ENST00000582743.1_Missense_Mutation_p.R84C|SLC16A3_ENST00000392339.1_Missense_Mutation_p.R84C|SLC16A3_ENST00000392341.1_Missense_Mutation_p.R84C|SLC16A3_ENST00000584781.1_3'UTR	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	84					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	GTGCGTGAACCGCTTTGGCTG	0.662		NA									OREG0024821	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		Pancreas(52;652 1135 19190 37282 52456)							NA				0								C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	89	87	88		250,250,250,250,250,250	4.7	1	17		88	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	SLC16A3	NM_001042422.2,NM_001042423.2,NM_001206950.1,NM_001206951.1,NM_001206952.1,NM_004207.3	180,180,180,180,180,180	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	84/466,84/466,84/466,84/466,84/466,84/466	80194631	1,13005	2203	4300	6503	SO:0001583	missense			U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526	9123	9123		Solute carriers	10924	protein-coding gene	gene with protein product		603877	solute carrier family 16 (monocarboxylic acid transporters), member 3, solute carrier family 16, member 3 (monocarboxylic acid transporter 4)		NA	9425115	Standard	NM_004207	NM_004207	NA	Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.250C>T	17.37:g.80194631C>T	ENSP00000463978:p.Arg84Cys	1196	B3KXG8|Q2M1P8	37	CCDS11804.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.020008	0.54576	0.0	1.16E-4	ENSG00000141526	ENST00000392341;ENST00000392339	T;T	0.65916	-0.18;-0.18	5.62	4.65	0.58169	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81403	0.4815	M	0.89030	3	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70016	0.967;0.967	D	0.84987	0.0892	10	0.59425	D	0.04	.	15.032	0.71713	0.1433:0.8567:0.0:0.0	.	84;84	Q53G91;O15427	.;MOT4_HUMAN	C	84	ENSP00000376152:R84C;ENSP00000376150:R84C	ENSP00000376150:R84C	R	+	1	0	SLC16A3	77787920	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.273000	0.43381	1.360000	0.45960	0.655000	0.94253	CGC	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443498.1		+	ENST00000581287.1	Missense_Mutation	SNP	17 : 80194631 - 80194631 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	738	97
SLC17A6	57084	broad.mit.edu	37	11	22382454	22382454	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:22382454C>A	ENST00000263160.3	+	5	1022	c.585C>A	c.(583-585)taC>taA	p.Y195*		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	195					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GTGTGACCTACCCAGCATGTC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	102	114			NA	NA	11		NA											NA				22382454		2203	4300	6503	SO:0001587	stop_gained			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664	57084	57084		Solute carriers	16703	protein-coding gene	gene with protein product	vesicular glutamate transporter 2, differentiation-associated Na-dependent inorganic phosphate cotransporter	607563	solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6		NA	11306821	Standard	NM_020346	NM_020346	NA	Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.585C>A	11.37:g.22382454C>A	ENSP00000263160:p.Tyr195*	NA	A6NKS2	37	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	C	39	7.809073	0.98501	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	.	.	.	5.29	3.38	0.38709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0376	0.36298	0.0:0.7105:0.0:0.2895	.	.	.	.	X	195;83	.	ENSP00000263160:Y195X	Y	+	3	2	SLC17A6	22339030	0.866000	0.29940	1.000000	0.80357	0.989000	0.77384	0.006000	0.13152	1.359000	0.45940	0.655000	0.94253	TAC	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387671.1		+	ENST00000263160.3	Nonsense_Mutation	SNP	11 : 22382454 - 22382454 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	202	18
SLC6A20	54716	broad.mit.edu	37	3	45823668	45823668	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:45823668G>A	ENST00000358525.4	-	2	284	c.169C>T	c.(169-171)Ccg>Tcg	p.P57S	SLC6A20_ENST00000456124.2_Missense_Mutation_p.P57S|SLC6A20_ENST00000353278.4_Missense_Mutation_p.P57S	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	57					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TACAAGAGCGGCATTCCCTCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	73	81			NA	NA	3		NA											NA				45823668		2203	4300	6503	SO:0001583	missense			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817	54716	54716		Solute carriers	30927	protein-coding gene	gene with protein product		605616			NA	9932288, 11352561	Standard	NM_020208	NM_022405	NA	Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.169C>T	3.37:g.45823668G>A	ENSP00000346298:p.Pro57Ser	NA	A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	37	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	g	32	5.153289	0.94645	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124	D;D;D	0.91686	-2.89;-2.89;-2.89	5.15	5.15	0.70609	.	0.060531	0.64402	D	0.000002	D	0.97439	0.9162	H	0.95402	3.665	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98648	1.0678	10	0.87932	D	0	.	18.6555	0.91452	0.0:0.0:1.0:0.0	.	57;57	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	S	57	ENSP00000296133:P57S;ENSP00000346298:P57S;ENSP00000404310:P57S	ENSP00000296133:P57S	P	-	1	0	SLC6A20	45798672	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	9.746000	0.98859	2.429000	0.82318	0.550000	0.68814	CCG	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257318.3		-	ENST00000358525.4	Missense_Mutation	SNP	3 : 45823668 - 45823668 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	184	4
SNAP25	6616	broad.mit.edu	37	20	10273546	10273546	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr20:10273546C>T	ENST00000304886.2	+	5	388	c.180C>T	c.(178-180)gtC>gtT	p.V60V	SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000254976.2_Intron	NM_003081.3	NP_003072.2	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	60	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	TCGATCGTGTCGAAGAAGGCA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	104	106			NA	NA	20		NA											NA				10273546		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639	6616	6616			11132	protein-coding gene	gene with protein product	resistance to inhibitors of cholinesterase 4 homolog	600322	synaptosomal-associated protein, 25kD	SNAP	NA	8661740, 10692432	Standard	NM_130811	NM_003081	NA	Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000304886.2:c.180C>T	20.37:g.10273546C>T		NA	B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	37	CCDS13109.1																																																																																			SNAP25-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077977.1		+	ENST00000304886.2	Silent	SNP	20 : 10273546 - 10273546 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	453	76
STRAP	11171	broad.mit.edu	37	12	16036495	16036495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:16036495C>T	ENST00000419869.2	+	2	446	c.133C>T	c.(133-135)Cag>Tag	p.Q45*	STRAP_ENST00000025399.6_Nonsense_Mutation_p.Q58*|STRAP_ENST00000538352.1_Intron	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	45					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TATGCTACGCCAGGGAGATAC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	66	69			NA	NA	12		NA											NA				16036495		2203	4300	6503	SO:0001587	stop_gained			AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734	11171	11171		WD repeat domain containing	30796	protein-coding gene	gene with protein product	Unr-interacting protein	605986			NA		Standard	NM_007178	NM_007178	NA	Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.133C>T	12.37:g.16036495C>T	ENSP00000392270:p.Gln45*	NA	B2R5S5|Q5TZT4|Q9NTK0|Q9UQC8	37	CCDS8676.1	.	.	.	.	.	.	.	.	.	.	C	40	8.254482	0.98727	.	.	ENSG00000023734	ENST00000025399;ENST00000419869	.	.	.	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-8.6948	17.5463	0.87863	0.0:1.0:0.0:0.0	.	.	.	.	X	58;45	.	ENSP00000025399:Q58X	Q	+	1	0	STRAP	15927762	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.604000	0.82830	2.436000	0.82500	0.655000	0.94253	CAG	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401114.1		+	ENST00000419869.2	Nonsense_Mutation	SNP	12 : 16036495 - 16036495 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	270	29
TMED1	11018	broad.mit.edu	37	19	10945733	10945733	+	Silent	SNP	G	G	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:10945733G>T	ENST00000591695.1	-	2	408				TMED1_ENST00000588289.1_5'UTR|TMED1_ENST00000214869.2_Silent_p.I114I			Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	NA					cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						GCTTCTCGGAGATGGTGCTGA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	107	108			NA	NA	19		NA											NA				10945733		2203	4300	6503	SO:0001627	intron_variant			U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203	11018	11018			17291	protein-coding gene	gene with protein product		605395	transmembrane emp24 domain containing 1		NA	11466339, 8621446	Standard	NM_006858	NM_006858	NA	Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000591695.1:c.281+198C>A	19.37:g.10945733G>T		NA		37																																																																																				TMED1-006	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000452616.1		-	ENST00000591695.1	Intron	SNP	19 : 10945733 - 10945733 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	528	59
TMEM252	169693	broad.mit.edu	37	9	71155605	71155605	+	Silent	SNP	C	C	T	rs147451213		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr9:71155605C>T	ENST00000377311.3	-	1	178	c.126G>A	c.(124-126)gcG>gcA	p.A42A		NM_153237.1	NP_694969.1			transmembrane protein 252	NA											NA						GCAAATAGGCCGCAATCAGGC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	66	61	62		126	1.9	0.2	9	dbSNP_134	62	0,8600		0,0,4300	no	coding-synonymous	C9orf71	NM_153237.1		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		42/171	71155605	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778	169693	169693			28537	protein-coding gene	gene with protein product			chromosome 9 open reading frame 71	C9orf71	NA	12477932	Standard	NM_153237	NM_153237	NA	Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.126G>A	9.37:g.71155605C>T		NA		37	CCDS35040.1																																																																																			TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052551.1		-	ENST00000377311.3	Silent	SNP	9 : 71155605 - 71155605 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	219	28
TYSND1	219743	broad.mit.edu	37	10	71903618	71903618	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:71903618G>A	ENST00000287078.6	-	2	1276	c.1277C>T	c.(1276-1278)cCc>cTc	p.P426L	TYSND1_ENST00000335494.5_Intron|TYSND1_ENST00000494143.1_5'UTR	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	426	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						GTGCTCAGCGGGCACAGGGAT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	66	70			NA	NA	10		NA											NA				71903618		2203	4300	6503	SO:0001583	missense			BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521	219743	219743			28531	protein-coding gene	gene with protein product		611017			NA	17255948	Standard	NM_173555	NM_173555	NA	Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.1277C>T	10.37:g.71903618G>A	ENSP00000287078:p.Pro426Leu	NA	Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	37	CCDS31213.1	.	.	.	.	.	.	.	.	.	.	G	2.040	-0.420236	0.04734	.	.	ENSG00000156521	ENST00000287078	D	0.88046	-2.33	5.35	3.37	0.38596	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.198668	0.43416	D	0.000575	T	0.51193	0.1660	N	0.00040	-2.5	0.09310	N	0.999998	B	0.18610	0.029	B	0.23018	0.043	T	0.57130	-0.7864	10	0.25106	T	0.35	-11.9179	8.2463	0.31691	0.2586:0.0:0.7414:0.0	.	426	Q2T9J0	TYSD1_HUMAN	L	426	ENSP00000287078:P426L	ENSP00000287078:P426L	P	-	2	0	TYSND1	71573624	0.001000	0.12720	0.798000	0.32154	0.927000	0.56198	0.666000	0.25097	1.499000	0.48617	0.555000	0.69702	CCC	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048483.1		-	ENST00000287078.6	Missense_Mutation	SNP	10 : 71903618 - 71903618 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	192	14
ZIC1	7545	broad.mit.edu	37	3	147128727	147128727	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:147128727T>G	ENST00000282928.4	+	1	1557	c.828T>G	c.(826-828)tgT>tgG	p.C276W		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	276					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGGAGGAGTGTCCGCGCGAGG	0.577		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	3		NA											NA				147128727		2203	4300	6503	SO:0001583	missense			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977	7545	7545		Zinc fingers, C2H2-type	12872	protein-coding gene	gene with protein product		600470	Zic family member 1 (odd-paired Drosophila homolog), Zic family member 1 (odd-paired homolog, Drosophila)		NA	8542595	Standard	NM_003412	NM_003412	NA	Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.828T>G	3.37:g.147128727T>G	ENSP00000282928:p.Cys276Trp	NA	Q2M3N1	37	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.616106	0.46631	.	.	ENSG00000152977	ENST00000282928	D	0.93906	-3.31	3.89	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97167	0.9074	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96487	0.9361	10	0.87932	D	0	.	8.178	0.31294	0.0:0.1721:0.0:0.8279	.	276	Q15915	ZIC1_HUMAN	W	276	ENSP00000282928:C276W	ENSP00000282928:C276W	C	+	3	2	ZIC1	148611417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.748000	0.38308	1.517000	0.48917	0.459000	0.35465	TGT	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355497.1		+	ENST00000282928.4	Missense_Mutation	SNP	3 : 147128727 - 147128727 G PAAD-TCGA-FB-A7DR-Tumor-SM-54378	536	53
ZNF207	7756	broad.mit.edu	37	17	30696647	30696647	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:30696647C>T	ENST00000394670.4	+	12	1523	c.1354C>T	c.(1354-1356)Cca>Tca	p.P452S	ZNF207_ENST00000394673.2_Missense_Mutation_p.P421S|ZNF207_ENST00000321233.6_Missense_Mutation_p.P436S|ZNF207_ENST00000341711.6_Missense_Mutation_p.P353S|ZNF207_ENST00000342555.6_Missense_Mutation_p.P455S|ZNF207_ENST00000577908.1_Missense_Mutation_p.P452S	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	436						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCAAGGCATGCCAGGATACCT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	73	76			NA	NA	17		NA											NA				30696647		2203	4300	6503	SO:0001583	missense			AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244	7756	7756		Zinc fingers, C2H2-type	12998	protein-coding gene	gene with protein product		603428			NA	9799612	Standard		NM_001098507	NA	Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000394670.4:c.1354C>T	17.37:g.30696647C>T	ENSP00000378165:p.Pro452Ser	NA	A8K6Y6|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	37	CCDS42294.1	.	.	.	.	.	.	.	.	.	.	C	9.281	1.048067	0.19827	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T;T;T	0.52295	0.67;0.93;0.71;0.7	5.97	5.97	0.96955	.	0.049449	0.85682	D	0.000000	T	0.31670	0.0804	N	0.12182	0.205	0.48288	D	0.999621	B;B;B;B;B	0.09022	0.002;0.001;0.001;0.002;0.001	B;B;B;B;B	0.06405	0.002;0.002;0.002;0.002;0.002	T	0.08086	-1.0739	10	0.26408	T	0.33	.	15.8636	0.79043	0.0:0.8652:0.1348:0.0	.	405;455;452;421;436	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	S	452;405;455;421;353;436	ENSP00000378165:P452S;ENSP00000378168:P405S;ENSP00000322777:P421S;ENSP00000344913:P353S	ENSP00000322777:P421S	P	+	1	0	ZNF207	27720760	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	4.866000	0.63005	2.833000	0.97629	0.585000	0.79938	CCA	ZNF207-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256249.2		+	ENST00000394670.4	Missense_Mutation	SNP	17 : 30696647 - 30696647 T PAAD-TCGA-FB-A7DR-Tumor-SM-54378	194	4
ZNF341	84905	broad.mit.edu	37	20	32336800	32336800	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr20:32336800C>A	ENST00000342427.2	+	4	776	c.411C>A	c.(409-411)agC>agA	p.S137R	ZNF341_ENST00000375200.1_Missense_Mutation_p.S137R	NM_032819.3	NP_116208.3	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TCTTGGTGAGCGATGATGTGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	119	135			NA	NA	20		NA											NA				32336800		2203	4300	6503	SO:0001583	missense			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061	84905	84905		Zinc fingers, C2H2-type	15992	protein-coding gene	gene with protein product					NA		Standard		NM_001282933	NA	Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000342427.2:c.411C>A	20.37:g.32336800C>A	ENSP00000344308:p.Ser137Arg	NA	A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	37	CCDS13227.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025262	0.54683	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.11712	3.03;2.75	5.83	-2.61	0.06171	.	0.127102	0.64402	D	0.000001	T	0.13286	0.0322	L	0.55481	1.735	0.44611	D	0.997586	P;P;P	0.46512	0.808;0.808;0.879	P;P;P	0.50934	0.452;0.452;0.654	T	0.23976	-1.0173	10	0.10377	T	0.69	-15.6572	12.3474	0.55128	0.0:0.3216:0.0:0.6784	.	78;137;137	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	R	137	ENSP00000344308:S137R;ENSP00000364346:S137R	ENSP00000344308:S137R	S	+	3	2	ZNF341	31800461	0.744000	0.28250	0.984000	0.44739	0.805000	0.45488	-0.139000	0.10358	-0.301000	0.08882	-0.127000	0.14921	AGC	ZNF341-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078741.2		+	ENST00000342427.2	Missense_Mutation	SNP	20 : 32336800 - 32336800 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	405	40
ZNF676	163223	broad.mit.edu	37	19	22363559	22363559	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:22363559C>A	ENST00000397121.2	-	3	1277	c.960G>T	c.(958-960)tgG>tgT	p.W320C		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGCTTGAGGACCAGCTGAAGG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	62	61			NA	NA	19		NA											NA				22363559		2095	4231	6326	SO:0001583	missense			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109	163223	163223		Zinc fingers, C2H2-type	20429	protein-coding gene	gene with protein product					NA		Standard	NM_001001411	NM_001001411	NA	Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.960G>T	19.37:g.22363559C>A	ENSP00000380310:p.Trp320Cys	NA	A8MVX5	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.109	-1.141274	0.01728	.	.	ENSG00000196109	ENST00000397121	T	0.36340	1.26	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23410	0.0566	N	0.10707	0.03	0.09310	N	1	D	0.58620	0.983	P	0.56474	0.799	T	0.11251	-1.0595	9	0.44086	T	0.13	.	0.1517	0.00094	0.2482:0.2591:0.2473:0.2454	.	320	Q8N7Q3	ZN676_HUMAN	C	320	ENSP00000380310:W320C	ENSP00000380310:W320C	W	-	3	0	ZNF676	22155399	0.000000	0.05858	0.017000	0.16124	0.017000	0.09413	-5.234000	0.00139	0.192000	0.20272	0.195000	0.17529	TGG	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464392.1		-	ENST00000397121.2	Missense_Mutation	SNP	19 : 22363559 - 22363559 A PAAD-TCGA-FB-A7DR-Tumor-SM-54378	913	42
