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
ABLIM1	3983	broad.mit.edu	37	10	116444085	116444085	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:116444085G>A	ENST00000533213.2	-	1	329	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F	ABLIM1_ENST00000369252.4_Missense_Mutation_p.L10F			O14639	ABLM1_HUMAN	actin binding LIM protein 1	0					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GGGTCCGTGAGCTCAGTCATT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													206	165	179			NA	NA	10		NA											NA				116444085		2203	4300	6503	SO:0001583	missense			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204	3983	3983			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM	NA	9245787	Standard		NM_002313	NA	Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000533213.2:c.28C>T	10.37:g.116444085G>A	ENSP00000433629:p.Leu10Phe	NA	A6NI16|A6NJ06|A8MXA9|Q15039|Q5JVV1|Q5JVV2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	37		.	.	.	.	.	.	.	.	.	.	G	11.34	1.609503	0.28623	.	.	ENSG00000099204	ENST00000369252;ENST00000369267;ENST00000533213	T;T	0.28069	1.63;1.63	5.87	3.94	0.45596	.	.	.	.	.	T	0.14570	0.0352	N	0.08118	0	0.25237	N	0.989784	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.28902	-1.0029	9	0.18710	T	0.47	.	7.6005	0.28073	0.0929:0.1705:0.7367:0.0	.	10;10;10	F8W8M4;A6NKJ2;B3KVH2	.;.;.	F	10	ENSP00000358256:L10F;ENSP00000433629:L10F	ENSP00000358256:L10F	L	-	1	0	ABLIM1	116434075	0.832000	0.29368	0.055000	0.19348	0.676000	0.39594	1.540000	0.36115	0.854000	0.35336	0.655000	0.94253	CTC	ABLIM1-203	KNOWN	basic	protein_coding	NA	protein_coding			-	ENST00000533213.2	Missense_Mutation	SNP	10 : 116444085 - 116444085 A PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	403	117
ADAMTS12	81792	broad.mit.edu	37	5	33577113	33577113	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:33577113G>C	ENST00000504830.1	-	19	3353	c.3018C>G	c.(3016-3018)aaC>aaG	p.N1006K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N921K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1006	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGTGCCTTTGTTTGGTTTCA	0.527		NA								HNSCC(64;0.19)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	155	156			NA	NA	5		NA											NA				33577113		2203	4300	6503	SO:0001583	missense			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388	81792	81792		ADAM metallopeptidases with thrombospondin type 1 motif	14605	protein-coding gene	gene with protein product		606184	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12		NA	11279086	Standard	NM_030955	NM_030955	NA	Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3018C>G	5.37:g.33577113G>C	ENSP00000422554:p.Asn1006Lys	NA	A2RRN9|A5D6V6|Q6UWL3	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	0.106	-1.144819	0.01714	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.57595	0.39;0.39	5.14	-1.12	0.09808	.	0.672497	0.16125	N	0.228476	T	0.27832	0.0685	N	0.20986	0.625	0.58432	D	0.99999	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.001	T	0.08330	-1.0727	10	0.28530	T	0.3	.	0.6749	0.00865	0.3625:0.1167:0.2841:0.2367	.	921;1006	P58397-3;P58397	.;ATS12_HUMAN	K	1006;921	ENSP00000422554:N1006K;ENSP00000344847:N921K	ENSP00000344847:N921K	N	-	3	2	ADAMTS12	33612870	0.392000	0.25229	0.567000	0.28434	0.205000	0.24178	0.075000	0.14686	0.061000	0.16311	0.655000	0.94253	AAC	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367164.2		-	ENST00000504830.1	Missense_Mutation	SNP	5 : 33577113 - 33577113 C PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	1111	136
ALDH1L1	10840	broad.mit.edu	37	3	125876347	125876347	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:125876347G>C	ENST00000273450.3	-	4	614	c.397C>G	c.(397-399)Ctc>Gtc	p.L133V	ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L123V|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.L123V|ALDH1L1_ENST00000393434.2_Missense_Mutation_p.L123V	NM_001270364.1	NP_001257293.1	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	123	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCGTGAATGAGGGTCCTAGGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	88	87			NA	NA	3		NA											NA				125876347		2203	4300	6503	SO:0001583	missense			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	10840	10840	1.5.1.6	Aldehyde dehydrogenases	3978	protein-coding gene	gene with protein product	cytosolic 10-formyltetrahydrofolate dehydrogenase	600249	formyltetrahydrofolate dehydrogenase	FTHFD	NA		Standard	NM_012190	NM_012190	NA	Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000273450.3:c.397C>G	3.37:g.125876347G>C	ENSP00000273450:p.Leu133Val	NA	Q68CS1	37	CCDS58851.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953044	0.73902	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000393434;ENST00000393431;ENST00000490367;ENST00000460368;ENST00000488356	T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	4.39	4.39	0.52855	Formyl transferase, N-terminal (3);	0.000000	0.64402	D	0.000002	D	0.86289	0.5897	L	0.55481	1.735	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.68353	0.957;0.951;0.957	D	0.87817	0.2635	10	0.87932	D	0	.	14.4889	0.67637	0.0:0.0:1.0:0.0	.	175;30;123	Q59G10;Q9UFA9;O75891	.;.;AL1L1_HUMAN	V	133;123;123;123;123;123;123	ENSP00000273450:L133V;ENSP00000420293:L123V;ENSP00000377083:L123V;ENSP00000377081:L123V;ENSP00000418711:L123V;ENSP00000419826:L123V;ENSP00000419955:L123V	ENSP00000273450:L133V	L	-	1	0	ALDH1L1	127359037	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	5.858000	0.69532	2.277000	0.76020	0.467000	0.42956	CTC	ALDH1L1-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246897.1		-	ENST00000273450.3	Missense_Mutation	SNP	3 : 125876347 - 125876347 C PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	591	130
ATP5G3	518	broad.mit.edu	37	2	176044902	176044902	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:176044902C>A	ENST00000284727.4	-	3	3068	c.44G>T	c.(43-45)cGa>cTa	p.R15L	ATP5G3_ENST00000409194.1_Missense_Mutation_p.R15L|ATP5G3_ENST00000392541.3_Missense_Mutation_p.R15L	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	15					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			GGATCCAGCTCGGATCTATTA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(30;387 605 18606 28805 47989)							NA				0													85	84	85			NA	NA	2		NA											NA				176044902		2203	4300	6503	SO:0001583	missense			BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518	518	518		Mitochondrial respiratory chain complex / Complex V, ATPases / F-type	843	protein-coding gene	gene with protein product		602736	ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3, ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)		NA	7698763	Standard	NM_001689	NM_001002258	NA	Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.44G>T	2.37:g.176044902C>A	ENSP00000284727:p.Arg15Leu	NA	B2R4Z0|D3DPF0|Q4ZFX7	37	CCDS2263.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865255	0.91511	.	.	ENSG00000154518	ENST00000284727;ENST00000409194;ENST00000392541	T;T;T	0.24151	1.87;1.87;1.87	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	L	0.58925	1.835	0.80722	D	1	D	0.64830	0.994	P	0.57679	0.825	T	0.15292	-1.0442	10	0.41790	T	0.15	0.9783	19.332	0.94295	0.0:1.0:0.0:0.0	.	15	P48201	AT5G3_HUMAN	L	15	ENSP00000284727:R15L;ENSP00000387317:R15L;ENSP00000376324:R15L	ENSP00000284727:R15L	R	-	2	0	ATP5G3	175753148	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.252000	0.78309	2.652000	0.90054	0.563000	0.77884	CGA	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255563.1		-	ENST00000284727.4	Missense_Mutation	SNP	2 : 176044902 - 176044902 A PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	502	106
CDH8	1006	broad.mit.edu	37	16	61851519	61851519	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:61851519C>T	ENST00000299345.6	-	7	2095	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	CDH8_ENST00000577390.1_Missense_Mutation_p.V381M|CDH8_ENST00000577730.1_Missense_Mutation_p.V381M|CDH8_ENST00000584337.1_Missense_Mutation_p.V381M			P55286	CADH8_HUMAN	cadherin 8, type 2	381	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCTTCAACCACGATTTTGACT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	107	87	94		1141	6.2	0.9	16		94	0,8600		0,0,4300	no	missense	CDH8	NM_001796.4	21	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	possibly-damaging	381/800	61851519	1,13005	2203	4300	6503	SO:0001583	missense			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394	1006	1006		Cadherins / Major cadherins	1767	protein-coding gene	gene with protein product		603008			NA	9615235, 2059658	Standard	NM_001796	NM_001796	NA	Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000299345.6:c.1141G>A	16.37:g.61851519C>T	ENSP00000299345:p.Val381Met	NA	B3KWC1|Q14DC6|Q9ULB2	37		.	.	.	.	.	.	.	.	.	.	C	12.44	1.939496	0.34189	2.27E-4	0.0	ENSG00000150394	ENST00000299345	T	0.01838	4.61	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.275056	0.41605	D	0.000854	T	0.04497	0.0123	N	0.16567	0.415	0.37077	D	0.89879	D;B	0.69078	0.997;0.232	P;B	0.58454	0.839;0.095	T	0.55630	-0.8111	10	0.49607	T	0.09	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	197;381	Q3LID3;P55286	.;CADH8_HUMAN	M	381	ENSP00000299345:V381M	ENSP00000299345:V381M	V	-	1	0	CDH8	60409020	0.074000	0.21230	0.851000	0.33527	0.731000	0.41821	1.447000	0.35101	2.941000	0.99782	0.655000	0.94253	GTG	CDH8-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000431170.1		-	ENST00000299345.6	Missense_Mutation	SNP	16 : 61851519 - 61851519 T PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	348	92
COX4I2	84701	broad.mit.edu	37	20	30232606	30232606	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:30232606C>T	ENST00000376075.3	+	5	490	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	139					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GACGGACGAGCGGAAAGCCCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	TRP/ARG	0,4406		0,0,2203	88	72	77		415	0.8	0.3	20		77	1,8599	819.2+/-406.8	0,1,4299	yes	missense	COX4I2	NM_032609.2	101	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	139/172	30232606	1,13005	2203	4300	6503	SO:0001583	missense			AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055	84701	84701		Mitochondrial respiratory chain complex / Complex IV	16232	protein-coding gene	gene with protein product	cytochrome c oxidase subunit IV-like 2	607976	cytochrome c oxidase subunit IV isoform 2	COX4L2	NA	11311561, 17937768	Standard	NM_032609	NM_032609	NA	Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.415C>T	20.37:g.30232606C>T	ENSP00000365243:p.Arg139Trp	NA	Q6GTF4|Q9H0Z4	37	CCDS13187.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.908787	0.00508	0.0	1.16E-4	ENSG00000131055	ENST00000376075	T	0.44482	0.92	4.38	0.825	0.18824	.	0.358373	0.28182	N	0.016300	T	0.10895	0.0266	N	0.01048	-1.04	0.20307	N	0.999915	B	0.02656	0.0	B	0.01281	0.0	T	0.36335	-0.9752	10	0.02654	T	1	-2.7008	7.3252	0.26551	0.0:0.4506:0.0:0.5494	.	139	Q96KJ9	COX42_HUMAN	W	139	ENSP00000365243:R139W	ENSP00000365243:R139W	R	+	1	2	COX4I2	29696267	0.975000	0.34042	0.349000	0.25694	0.011000	0.07611	1.047000	0.30367	-0.290000	0.09025	-0.817000	0.03123	CGG	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078548.1		+	ENST00000376075.3	Missense_Mutation	SNP	20 : 30232606 - 30232606 T PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	353	61
CPB1	1360	broad.mit.edu	37	3	148563350	148563350	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:148563350C>A	ENST00000491148.1	+	10	1252	c.918C>A	c.(916-918)taC>taA	p.Y306*	CPB1_ENST00000282957.4_Nonsense_Mutation_p.Y306*			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	306					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCCACTCGTACTCCCAAATGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	136	138			NA	NA	3		NA											NA				148563350		2203	4300	6503	SO:0001587	stop_gained			AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	1360	1360	3.4.17.2		2299	protein-coding gene	gene with protein product	pancreatic carboxypeptidase B, tissue carboxypeptidase B, protaminase	114852			NA		Standard	NM_001871	XM_005247124	NA	Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.918C>A	3.37:g.148563350C>A	ENSP00000417222:p.Tyr306*	NA	O60834|Q53XJ0|Q96BQ8	37	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903423	0.52333	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	.	.	.	5.69	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7299	0.08489	0.0:0.662:0.0:0.338	.	.	.	.	X	306	.	ENSP00000282957:Y306X	Y	+	3	2	CPB1	150046040	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	2.436000	0.44819	2.677000	0.91161	0.655000	0.94253	TAC	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355928.1		+	ENST00000491148.1	Nonsense_Mutation	SNP	3 : 148563350 - 148563350 A PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	633	230
CPO	130749	broad.mit.edu	37	2	207827279	207827279	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:207827279C>A	ENST00000272852.3	+	7	764	c.718C>A	c.(718-720)Cag>Aag	p.Q240K		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	240					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CTCTTATGGGCAGTTAATTCT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	187	192			NA	NA	2		NA											NA				207827279		2203	4300	6503	SO:0001583	missense				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410	130749	130749			21011	protein-coding gene	gene with protein product	metallocarboxypeptidase O, metallocarboxypeptidase C	609563			NA	11836249	Standard	NM_173077	NM_173077	NA	Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.718C>A	2.37:g.207827279C>A	ENSP00000272852:p.Gln240Lys	NA	Q2M277|Q7RTW7	37	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667939	0.88348	.	.	ENSG00000144410	ENST00000272852	T	0.33654	1.4	5.5	5.5	0.81552	Peptidase M14, carboxypeptidase A (3);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	M	0.89095	3.005	0.49582	D	0.999805	D	0.76494	0.999	D	0.87578	0.998	T	0.72574	-0.4252	10	0.87932	D	0	.	16.9428	0.86222	0.0:1.0:0.0:0.0	.	240	Q8IVL8	CBPO_HUMAN	K	240	ENSP00000272852:Q240K	ENSP00000272852:Q240K	Q	+	1	0	CPO	207535524	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	7.009000	0.76347	2.868000	0.98415	0.555000	0.69702	CAG	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000202040.2		+	ENST00000272852.3	Missense_Mutation	SNP	2 : 207827279 - 207827279 A PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	911	171
CYP11A1	1583	broad.mit.edu	37	15	74636261	74636261	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:74636261A>G	ENST00000358632.4	-	4	919	c.224T>C	c.(223-225)tTc>tCc	p.F75S	CYP11A1_ENST00000268053.6_Missense_Mutation_p.F233S|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Missense_Mutation_p.F75S	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	233					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GGCATCAATGAATCGCTGGGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(87;818 1337 4093 9268 37314)							NA				0													147	138	141			NA	NA	15		NA											NA				74636261		2197	4296	6493	SO:0001583	missense			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1583	1583	1.14.15.6	Cytochrome P450s	2590	protein-coding gene	gene with protein product	cholesterol monooxygenase (side-chain-cleaving)	118485	cytochrome P450, subfamily XIA (cholesterol side chain cleavage)	CYP11A	NA		Standard		NM_000781	NA	Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000358632.4:c.224T>C	15.37:g.74636261A>G	ENSP00000351455:p.Phe75Ser	NA	A8K8D5|Q15081|Q16805|Q8N1A7	37	CCDS45303.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.304450	0.60305	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000450547	T;T;T	0.71461	-0.57;-0.57;-0.57	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.85965	0.5820	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88863	0.3327	10	0.87932	D	0	-18.212	13.221	0.59887	1.0:0.0:0.0:0.0	.	203;233	B4DTE5;P05108	.;CP11A_HUMAN	S	233;75;75;145	ENSP00000268053:F233S;ENSP00000351455:F75S;ENSP00000405488:F75S	ENSP00000268053:F233S	F	-	2	0	CYP11A1	72423314	1.000000	0.71417	0.972000	0.41901	0.164000	0.22412	8.511000	0.90535	1.617000	0.50277	0.439000	0.28862	TTC	CYP11A1-002	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319738.1		-	ENST00000358632.4	Missense_Mutation	SNP	15 : 74636261 - 74636261 G PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	453	188
ENOX1	55068	broad.mit.edu	37	13	43934128	43934128	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr13:43934128G>A	ENST00000261488.6	-	7	1025	c.448C>T	c.(448-450)Cca>Tca	p.P150S	ENOX1_ENST00000482207.1_5'UTR|ENOX1_ENST00000412891.1_Missense_Mutation_p.P150S|ENOX1_ENST00000540032.1_5'UTR	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	150	RRM.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCATTTTCTGGTAATCCTCCG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	82	84			NA	NA	13		NA											NA				43934128		2203	4300	6503	SO:0001583	missense			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658	55068	55068		RNA binding motif (RRM) containing	25474	protein-coding gene	gene with protein product		610914			NA	11360993	Standard	NM_017993	NM_001127615	NA	Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.448C>T	13.37:g.43934128G>A	ENSP00000261488:p.Pro150Ser	NA	A4GU15|A6NMH9|Q2TU81|Q5VT11|Q9NWE0	37	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612841	0.87258	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.78003	-1.14;-1.14	5.89	5.89	0.94794	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.85044	0.5607	L	0.39514	1.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85213	0.1022	10	0.66056	D	0.02	2.8841	20.248	0.98401	0.0:0.0:1.0:0.0	.	150	Q8TC92	ENOX1_HUMAN	S	150	ENSP00000261488:P150S;ENSP00000415054:P150S	ENSP00000261488:P150S	P	-	1	0	ENOX1	42832128	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.414000	0.97362	2.790000	0.95986	0.655000	0.94253	CCA	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044717.2		-	ENST00000261488.6	Missense_Mutation	SNP	13 : 43934128 - 43934128 A PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	370	110
EPB41L3	23136	broad.mit.edu	37	18	5398076	5398076	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr18:5398076G>A	ENST00000341928.2	-	17	2756	c.2416C>T	c.(2416-2418)Cga>Tga	p.R806*	EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.R806*|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.R637*|EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.R103*|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.R111*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	806	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTTGGTTTTCGCGCAGACTCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													225	231	229			NA	NA	18		NA											NA				5398076		2203	4300	6503	SO:0001587	stop_gained			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397	23136	23136			3380	protein-coding gene	gene with protein product		605331			NA	9828140, 9892180	Standard	NM_012307	NM_012307	NA	Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2416C>T	18.37:g.5398076G>A	ENSP00000343158:p.Arg806*	NA	O95713|Q9BRP5	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	40	8.140571	0.98672	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000427684;ENST00000542146;ENST00000342933	.	.	.	6.17	2.8	0.32819	.	0.352659	0.33477	N	0.004861	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8014	0.78456	0.0:0.0:0.1619:0.8381	.	.	.	.	X	806;637;103;111;806	.	ENSP00000343158:R806X	R	-	1	2	EPB41L3	5388076	0.996000	0.38824	0.129000	0.21949	0.981000	0.71138	3.424000	0.52764	0.287000	0.22375	0.655000	0.94253	CGA	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254424.1		-	ENST00000341928.2	Nonsense_Mutation	SNP	18 : 5398076 - 5398076 A PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	1465	434
FAM180A	389558	broad.mit.edu	37	7	135418752	135418752	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:135418752G>A	ENST00000338588.3	-	3	758	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	FAM180A_ENST00000415751.1_Missense_Mutation_p.R165C|FAM180A_ENST00000435869.1_Intron	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	165						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TGTGAGGAGCGCATCAAGTCG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	59	62			NA	NA	7		NA											NA				135418752		2203	4300	6503	SO:0001583	missense			AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320	389558	389558			33773	protein-coding gene	gene with protein product					NA	12975309, 12690205	Standard	NM_205855	NM_205855	NA	Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.493C>T	7.37:g.135418752G>A	ENSP00000342336:p.Arg165Cys	NA	B2RP85	37	CCDS5841.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803009	0.70682	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.32753	1.44;1.44	5.65	3.64	0.41730	.	0.844010	0.10623	N	0.653115	T	0.40398	0.1115	L	0.44542	1.39	0.41549	D	0.988564	D	0.65815	0.995	P	0.53861	0.736	T	0.26326	-1.0106	10	0.72032	D	0.01	-22.9136	12.1672	0.54138	0.0:0.0:0.6799:0.3201	.	165	Q6UWF9	F180A_HUMAN	C	165	ENSP00000342336:R165C;ENSP00000395467:R165C	ENSP00000342336:R165C	R	-	1	0	FAM180A	135069292	0.904000	0.30761	0.945000	0.38365	0.922000	0.55478	1.270000	0.33086	1.375000	0.46248	0.561000	0.74099	CGC	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340554.2		-	ENST00000338588.3	Missense_Mutation	SNP	7 : 135418752 - 135418752 A PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	225	52
FAT2	2196	broad.mit.edu	37	5	150945261	150945261	+	Missense_Mutation	SNP	C	C	T	rs142737825	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:150945261C>T	ENST00000261800.5	-	1	3244	c.3232G>A	c.(3232-3234)Gca>Aca	p.A1078T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1078	Cadherin 9.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAAGGCTGCGAGTCCAGTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	36	37	37		3232	3.2	0.2	5	dbSNP_134	37	1,8597	1.2+/-3.3	0,1,4298	yes	missense	FAT2	NM_001447.2	58	0,4,6498	TT,TC,CC	NA	0.0116,0.0681,0.0308	benign	1078/4350	150945261	4,13000	2203	4299	6502	SO:0001583	missense			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570	2196	2196		Cadherins / Cadherin-related	3596	protein-coding gene	gene with protein product	cadherin-related family member 9	604269	FAT tumor suppressor (Drosophila) homolog 2, FAT tumor suppressor homolog 2 (Drosophila)		NA	9693030	Standard	NM_001447	NM_001447	NA	Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3232G>A	5.37:g.150945261C>T	ENSP00000261800:p.Ala1078Thr	NA	O75091|Q9NSR7	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537775	0.27475	6.81E-4	1.16E-4	ENSG00000086570	ENST00000261800	T	0.03181	4.02	4.95	3.17	0.36434	Cadherin (4);Cadherin-like (1);	0.434861	0.21480	N	0.073843	T	0.02230	0.0069	N	0.11341	0.13	0.20307	N	0.999912	B	0.18968	0.032	B	0.14023	0.01	T	0.45101	-0.9284	10	0.39692	T	0.17	.	7.2879	0.26350	0.1444:0.7035:0.0:0.1521	.	1078	Q9NYQ8	FAT2_HUMAN	T	1078	ENSP00000261800:A1078T	ENSP00000261800:A1078T	A	-	1	0	FAT2	150925454	0.556000	0.26538	0.248000	0.24265	0.638000	0.38207	1.972000	0.40540	0.608000	0.30000	0.655000	0.94253	GCA	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252434.1		-	ENST00000261800.5	Missense_Mutation	SNP	5 : 150945261 - 150945261 T PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	215	70
FLRT2	23768	broad.mit.edu	37	14	86087923	86087923	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:86087923T>A	ENST00000330753.4	+	2	832	c.65T>A	c.(64-66)aTt>aAt	p.I22N	FLRT2_ENST00000554746.1_Missense_Mutation_p.I22N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	22					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGGCTTATCATTTCCCTGGGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	80	80			NA	NA	14		NA											NA				86087923		2203	4300	6503	SO:0001583	missense			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070	23768	23768		Fibronectin type III domain containing	3761	protein-coding gene	gene with protein product		604807			NA	10644439, 16872596	Standard		XM_005267490	NA	Approved		uc001xvr.3	O43155		ENST00000330753.4:c.65T>A	14.37:g.86087923T>A	ENSP00000332879:p.Ile22Asn	NA	A0AV84|B7ZLP3	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	T	19.59	3.856684	0.71834	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.57752	0.38;0.38	5.73	5.73	0.89815	.	0.451624	0.24838	N	0.035191	T	0.39226	0.1070	N	0.14661	0.345	0.39960	D	0.974659	B	0.31790	0.34	B	0.30855	0.121	T	0.45585	-0.9251	10	0.87932	D	0	-1.5983	16.0233	0.80516	0.0:0.0:0.0:1.0	.	22	O43155	FLRT2_HUMAN	N	22	ENSP00000332879:I22N;ENSP00000451050:I22N	ENSP00000332879:I22N	I	+	2	0	FLRT2	85157676	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	7.988000	0.88194	2.186000	0.69663	0.533000	0.62120	ATT	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413193.1		+	ENST00000330753.4	Missense_Mutation	SNP	14 : 86087923 - 86087923 A PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	566	147
GABRB3	2562	broad.mit.edu	37	15	26825521	26825521	+	Silent	SNP	C	C	T	rs146431931		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:26825521C>T	ENST00000541819.2	-	7	897	c.795G>A	c.(793-795)ccG>ccA	p.P265P	GABRB3_ENST00000311550.5_Silent_p.P209P|GABRB3_ENST00000400188.3_Silent_p.P138P|GABRB3_ENST00000299267.4_Silent_p.P209P|GABRB3_ENST00000545868.1_Silent_p.P124P			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	209					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGGAGAACTGCGGGAGCTCAA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,	0,4406		0,0,2203	131	116	121		627,372,414,627	-10.2	0.7	15	dbSNP_134	121	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GABRB3	NM_000814.5,NM_001191320.1,NM_001191321.1,NM_021912.4	,,,	0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154	,,,	209/474,124/389,138/403,209/474	26825521	2,13004	2203	4300	6503	SO:0001819	synonymous_variant				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206	2562	2562		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4083	protein-coding gene	gene with protein product	GABA(A) receptor, beta 3	137192			NA		Standard		NM_000814	NA	Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000541819.2:c.795G>A	15.37:g.26825521C>T		NA	Q14352|Q96FM5	37																																																																																				GABRB3-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000414986.2		-	ENST00000541819.2	Silent	SNP	15 : 26825521 - 26825521 T PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	354	20
HERC2	8924	broad.mit.edu	37	15	28459392	28459392	+	Missense_Mutation	SNP	G	G	A	rs138059246	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:28459392G>A	ENST00000261609.7	-	41	6493	c.6385C>T	c.(6385-6387)Cgc>Tgc	p.R2129C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2129					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCTGCGGGCGCACCCTGCGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	26	25			NA	NA	15		NA											NA				28459392		2195	4292	6487	SO:0001583	missense			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	8924	8924			4868	protein-coding gene	gene with protein product		605837	hect domain and RLD 2		NA	9949213	Standard	NM_004667	NM_004667	NA	Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6385C>T	15.37:g.28459392G>A	ENSP00000261609:p.Arg2129Cys	NA	Q86SV7|Q86SV8|Q86SV9|Q86YY3|Q86YY4|Q86YY5|Q86YY6|Q86YY7|Q86YY8|Q86YY9|Q86YZ0|Q86YZ1	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.944883	0.53079	.	.	ENSG00000128731	ENST00000261609	T	0.41400	1.0	4.75	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.53594	0.1806	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.55866	-0.8073	10	0.72032	D	0.01	.	12.4051	0.55434	0.0:0.0:0.7652:0.2348	.	2129	O95714	HERC2_HUMAN	C	2129	ENSP00000261609:R2129C	ENSP00000261609:R2129C	R	-	1	0	HERC2	26132987	1.000000	0.71417	0.956000	0.39512	0.126000	0.20510	3.130000	0.50508	2.461000	0.83175	0.484000	0.47621	CGC	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251358.2		-	ENST00000261609.7	Missense_Mutation	SNP	15 : 28459392 - 28459392 A PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	230	10
IFNL2	282616	broad.mit.edu	37	19	39760163	39760163	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:39760163G>A	ENST00000331982.5	+	4	361	c.306G>A	c.(304-306)ctG>ctA	p.L102L		NM_172138.1	NP_742150.1			interferon, lambda 2	NA											NA						AGGCTGAGCTGGCCCTGACGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	46	44			NA	NA	19		NA											NA				39760163		2203	4300	6503	SO:0001819	synonymous_variant			AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709	282616	282616		Interferons	18364	protein-coding gene	gene with protein product		607401	interleukin 28A, interleukin 28A (interferon, lambda 2)	IL28A	NA		Standard	NM_172138	NM_172138	NA	Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.306G>A	19.37:g.39760163G>A		NA		37	CCDS42567.1																																																																																			IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463833.1		+	ENST00000331982.5	Silent	SNP	19 : 39760163 - 39760163 A PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	495	226
IGF2BP2	10644	broad.mit.edu	37	3	185364845	185364845	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:185364845C>T	ENST00000382199.2	-	15	1770	c.1675G>A	c.(1675-1677)Gtc>Atc	p.V559I	IGF2BP2_ENST00000421047.2_Missense_Mutation_p.V502I|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.V565I|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.V516I	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	559	KH 4.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATAATTCTGACGATCACTTCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													215	177	190			NA	NA	3		NA											NA				185364845		2203	4300	6503	SO:0001583	missense			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792	10644	10644		RNA binding motif (RRM) containing	28867	protein-coding gene	gene with protein product	IGF II mRNA binding protein 2	608289			NA	10190901, 9891060	Standard	NM_006548	NM_001007225	NA	Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.1675G>A	3.37:g.185364845C>T	ENSP00000371634:p.Val559Ile	NA	A0A4Z0|B3FTN2|B3FTN3|B3FTN4	37	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	C	33	5.267801	0.95399	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.02	5.02	0.67125	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.059424	0.64402	D	0.000002	T	0.50446	0.1616	L	0.52206	1.635	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.997;1.0	D;D;D;D;D;D	0.87578	0.977;0.997;0.997;0.997;0.915;0.998	T	0.40739	-0.9547	10	0.39692	T	0.17	-20.9324	17.4755	0.87658	0.0:1.0:0.0:0.0	.	453;496;502;565;516;559	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	I	559;502;565;516	ENSP00000371634:V559I;ENSP00000413787:V502I;ENSP00000410242:V565I;ENSP00000320204:V516I	ENSP00000320204:V516I	V	-	1	0	IGF2BP2	186847539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.499000	0.84300	0.555000	0.69702	GTC	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157087.2		-	ENST00000382199.2	Missense_Mutation	SNP	3 : 185364845 - 185364845 T PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	617	135
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	122	63
MACF1	23499	broad.mit.edu	37	1	39878506	39878506	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:39878506G>T	ENST00000372915.3	+	58	15918				MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|KIAA0754_ENST00000530275.1_Missense_Mutation_p.G721C|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	NA					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCAGAGGAGGGTACCTCAAT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	42	42			NA	NA	1		NA											NA				39878506		2000	4167	6167	SO:0001627	intron_variant			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603	23499	23499		EF-hand domain containing	13664	protein-coding gene	gene with protein product	actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7	608271			NA	7635207, 10529403	Standard	NM_033044	NM_012090	NA	Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15832-9540G>T	1.37:g.39878506G>T		NA	E9PJT0|O75053|Q5VW20|Q8WXY2|Q9H540|Q9UKP0|Q9ULG9	37		.	.	.	.	.	.	.	.	.	.	G	9.814	1.183976	0.21870	.	.	ENSG00000255103	ENST00000530275	T	0.25912	1.77	2.94	2.01	0.26516	.	.	.	.	.	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	B	0.40285	0.325	T	0.10636	-1.0621	9	0.62326	D	0.03	.	4.2424	0.10654	0.1402:0.2402:0.6196:0.0	.	721	O94854	K0754_HUMAN	C	721	ENSP00000431179:G721C	ENSP00000431179:G721C	G	+	1	0	RP4-562N20.1	39651093	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	-0.271000	0.08572	0.553000	0.29044	0.561000	0.74099	GGT	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392096.1		+	ENST00000372915.3	Intron	SNP	1 : 39878506 - 39878506 T PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	62	20
MAST4	375449	broad.mit.edu	37	5	66462696	66462696	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:66462696G>T	ENST00000403625.2	+	29	7984	c.7689G>T	c.(7687-7689)aaG>aaT	p.K2563N	MAST4_ENST00000261569.7_Missense_Mutation_p.K2369N|MAST4_ENST00000404260.3_Missense_Mutation_p.K2566N|MAST4_ENST00000403666.1_Missense_Mutation_p.K2374N|MAST4_ENST00000405643.1_Missense_Mutation_p.K2384N	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2566						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCAAAGGGAAGGACCCTGCCC	0.652		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	5		NA											NA				66462696		1991	4154	6145	SO:0001583	missense			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020	375449	375449			19037	protein-coding gene	gene with protein product					NA	9205841	Standard		NM_198828	NA	Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.7689G>T	5.37:g.66462696G>T	ENSP00000385727:p.Lys2563Asn	NA	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	37	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.29|12.29	1.892169|1.892169	0.33442|0.33442	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.69435	.|-0.38;-0.38;-0.4;-0.4;-0.38	4.96|4.96	-0.072|-0.072	0.13741|0.13741	.|.	.|0.524558	.|0.17486	.|N	.|0.172521	.|T	.|0.48537	.|0.1505	L|L	0.32530|0.32530	0.975|0.975	0.24930|0.24930	N|N	0.991929|0.991929	.|P;P	.|0.42692	.|0.682;0.787	.|B;B	.|0.39258	.|0.154;0.295	.|T	.|0.44726	.|-0.9309	.|10	.|0.87932	.|D	.|0	-7.2859|-7.2859	4.9971|4.9971	0.14245|0.14245	0.5799:0.149:0.271:0.0|0.5799:0.149:0.271:0.0	.|.	.|2566;2374	.|O15021;O15021-3	.|MAST4_HUMAN;.	X|N	1620|2566;2563;2374;2384;2384;2369	.|ENSP00000385048:K2566N;ENSP00000385727:K2563N;ENSP00000384313:K2374N;ENSP00000384099:K2384N;ENSP00000261569:K2369N	.|ENSP00000261569:K2369N	G|K	+|+	1|3	0|2	MAST4|MAST4	66498452|66498452	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.396000|0.396000	0.30629|0.30629	0.740000|0.740000	0.26188|0.26188	0.102000|0.102000	0.17638|0.17638	0.561000|0.561000	0.74099|0.74099	GGA|AAG	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326324.2		+	ENST00000403625.2	Missense_Mutation	SNP	5 : 66462696 - 66462696 T PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	75	24
MAST4	375449	broad.mit.edu	37	5	66462697	66462697	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:66462697G>T	ENST00000403625.2	+	29	7985	c.7690G>T	c.(7690-7692)Gac>Tac	p.D2564Y	MAST4_ENST00000261569.7_Missense_Mutation_p.D2370Y|MAST4_ENST00000404260.3_Missense_Mutation_p.D2567Y|MAST4_ENST00000403666.1_Missense_Mutation_p.D2375Y|MAST4_ENST00000405643.1_Missense_Mutation_p.D2385Y	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2567						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAAAGGGAAGGACCCTGCCCC	0.647		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	5		NA											NA				66462697		1993	4153	6146	SO:0001583	missense			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020	375449	375449			19037	protein-coding gene	gene with protein product					NA	9205841	Standard		NM_198828	NA	Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.7690G>T	5.37:g.66462697G>T	ENSP00000385727:p.Asp2564Tyr	NA	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	37	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.43|14.43	2.533575|2.533575	0.45073|0.45073	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|.	0.67698|.	-0.26;-0.26;-0.28;-0.27;-0.25|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.511218|.	0.18007|.	N|.	0.154702|.	T|T	0.39627|0.39627	0.1085|0.1085	N|N	0.14661|0.14661	0.345|0.345	0.32109|0.32109	N|N	0.58962|0.58962	P;P|.	0.52692|.	0.924;0.955|.	P;P|.	0.54312|.	0.564;0.748|.	T|T	0.41627|0.41627	-0.9498|-0.9498	10|5	0.87932|.	D|.	0|.	-10.3885|-10.3885	16.9304|16.9304	0.86189|0.86189	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2567;2375|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	Y|V	2567;2564;2375;2385;2385;2370|1620	ENSP00000385048:D2567Y;ENSP00000385727:D2564Y;ENSP00000384313:D2375Y;ENSP00000384099:D2385Y;ENSP00000261569:D2370Y|.	ENSP00000261569:D2370Y|.	D|G	+|+	1|2	0|0	MAST4|MAST4	66498453|66498453	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.398000|0.398000	0.30690|0.30690	2.887000|2.887000	0.48586|0.48586	2.734000|2.734000	0.93682|0.93682	0.561000|0.561000	0.74099|0.74099	GAC|GGA	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326324.2		+	ENST00000403625.2	Missense_Mutation	SNP	5 : 66462697 - 66462697 T PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	77	24
MUC2	4583	broad.mit.edu	37	11	1077612	1077612	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr11:1077612A>T	ENST00000441003.2	+	3	389	c.362A>T	c.(361-363)cAc>cTc	p.H121L	MUC2_ENST00000359061.5_Missense_Mutation_p.H121L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	121	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGCACCCCGCACTACAGCCCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	33	31			NA	NA	11		NA											NA				1077612		1953	4123	6076	SO:0001583	missense			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788	4583	4583		Mucins	7512	protein-coding gene	gene with protein product		158370	mucin 2, intestinal/tracheal		NA	15081123	Standard	NM_002457	NM_002457	NA	Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.362A>T	11.37:g.1077612A>T	ENSP00000415183:p.His121Leu	NA	Q14878	37		.	.	.	.	.	.	.	.	.	.	A	8.945	0.966802	0.18659	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.56776	0.44;0.44	3.52	2.34	0.29019	.	0.298471	0.27185	U	0.020528	T	0.55513	0.1925	L	0.51422	1.61	0.26066	N	0.981282	B	0.26195	0.144	B	0.43360	0.417	T	0.57579	-0.7787	10	0.62326	D	0.03	.	9.8992	0.41338	0.8285:0.1715:0.0:0.0	.	121	E7EUV1	.	L	121	ENSP00000415183:H121L;ENSP00000351956:H121L	ENSP00000351956:H121L	H	+	2	0	MUC2	1067612	1.000000	0.71417	0.876000	0.34364	0.336000	0.28762	5.272000	0.65559	0.388000	0.25054	0.334000	0.21626	CAC	MUC2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000345894.2		+	ENST00000441003.2	Missense_Mutation	SNP	11 : 1077612 - 1077612 T PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	143	38
NEK9	91754	broad.mit.edu	37	14	75590766	75590766	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:75590766T>G	ENST00000238616.5	-	2	538	c.380A>C	c.(379-381)gAg>gCg	p.E127A		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	127	Protein kinase.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		ATATTCCAGCTCAATCAGCAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	150	155			NA	NA	14		NA											NA				75590766		2203	4300	6503	SO:0001583	missense			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638	91754	91754			18591	protein-coding gene	gene with protein product		609798	NIMA (never in mitosis gene a)- related kinase 9		NA	11864968	Standard	NM_033116	NM_033116	NA	Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.380A>C	14.37:g.75590766T>G	ENSP00000238616:p.Glu127Ala	NA	Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	37	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550313	0.86127	.	.	ENSG00000119638	ENST00000238616;ENST00000540227;ENST00000557673;ENST00000553823	T;T;T	0.63913	1.94;-0.07;0.86	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	N	0.04373	-0.215	0.80722	D	1	P	0.38729	0.644	P	0.46510	0.519	T	0.52003	-0.8633	10	0.18276	T	0.48	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	127	Q8TD19	NEK9_HUMAN	A	127;109;9;9	ENSP00000238616:E127A;ENSP00000450943:E9A;ENSP00000452537:E9A	ENSP00000238616:E127A	E	-	2	0	NEK9	74660519	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GAG	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415021.1		-	ENST00000238616.5	Missense_Mutation	SNP	14 : 75590766 - 75590766 G PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	474	131
NLRP12	91662	broad.mit.edu	37	19	54327405	54327405	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:54327405G>A	ENST00000324134.6	-	1	192	c.24C>T	c.(22-24)gaC>gaT	p.D8D	NLRP12_ENST00000391775.3_Silent_p.D8D|NLRP12_ENST00000391772.1_Silent_p.D8D|NLRP12_ENST00000354278.3_Silent_p.D8D|NLRP12_ENST00000351894.4_Silent_p.D8D|NLRP12_ENST00000535162.1_Silent_p.D8D|NLRP12_ENST00000391773.1_Silent_p.D8D|NLRP12_ENST00000345770.5_Silent_p.D8D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	8	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.D8E(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GACAGAGGCCGTCCCTGCCTG	0.612		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)											43	42	42			NA	NA	19		NA											NA				54327405		2203	4300	6503	SO:0001819	synonymous_variant			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405	91662	91662		Nucleotide-binding domain and leucine rich repeat containing	22938	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12	609648	NACHT, leucine rich repeat and PYD containing 12	NALP12	NA	12563287, 12019269	Standard	NM_144687	NM_001277129	NA	Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.24C>T	19.37:g.54327405G>A		NA	Q8NEU4|Q9BY26	37	CCDS12864.1																																																																																			NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134340.1		-	ENST00000324134.6	Silent	SNP	19 : 54327405 - 54327405 A PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	492	97
OR2A5	393046	broad.mit.edu	37	7	143747854	143747854	+	Silent	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:143747854C>T	ENST00000408906.2	+	1	394	c.360C>T	c.(358-360)taC>taT	p.Y120Y		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGATGTCCTACGATCGGTACA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	176	176			NA	NA	7		NA											NA				143747854		2106	4248	6354	SO:0001819	synonymous_variant			U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836	393046	393046		GPCR / Class A : Olfactory receptors	8232	protein-coding gene	gene with protein product			olfactory receptor, family 2, subfamily A, member 5	OR2A8, OR2A26	NA	9500546	Standard		NM_012365	NA	Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.360C>T	7.37:g.143747854C>T		NA	B9EGX2|O43885|O43888	37	CCDS43668.1																																																																																			OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349986.1		+	ENST00000408906.2	Silent	SNP	7 : 143747854 - 143747854 T PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	1001	321
OR2M3	127062	broad.mit.edu	37	1	248366501	248366501	+	Silent	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:248366501C>T	ENST00000456743.1	+	1	170	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GAAACTCTGTCATGGTTCTCC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													253	245	248			NA	NA	1		NA											NA				248366501		2203	4298	6501	SO:0001819	synonymous_variant				CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198	127062	127062		GPCR / Class A : Olfactory receptors	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P	NA		Standard	NM_001004689	NM_001004689	NA	Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.132C>T	1.37:g.248366501C>T		NA	B9EH06|Q6IEY0	37	CCDS31107.1																																																																																			OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097355.1		+	ENST00000456743.1	Silent	SNP	1 : 248366501 - 248366501 T PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	2510	428
PCDH15	65217	broad.mit.edu	37	10	55826528	55826528	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:55826528C>A	ENST00000373965.2	-	19	2624	c.2230G>T	c.(2230-2232)Ggt>Tgt	p.G744C	PCDH15_ENST00000414778.1_Missense_Mutation_p.G742C|PCDH15_ENST00000395445.1_Missense_Mutation_p.G744C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.G737C|PCDH15_ENST00000395438.1_Missense_Mutation_p.G737C|PCDH15_ENST00000373957.3_Missense_Mutation_p.G715C|PCDH15_ENST00000395430.1_Missense_Mutation_p.G737C|PCDH15_ENST00000395433.1_Missense_Mutation_p.G715C|PCDH15_ENST00000320301.6_Missense_Mutation_p.G737C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.G348C|PCDH15_ENST00000437009.1_Missense_Mutation_p.G666C|PCDH15_ENST00000373955.1_Missense_Mutation_p.G737C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.G700C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	737	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.G742S(2)|p.G737S(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTACTTGACCCACAAAGGCA	0.328		NA								HNSCC(58;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				4	Substitution - Missense(4)	lung(4)											88	83	85			NA	NA	10		NA											NA				55826528		2203	4300	6503	SO:0001583	missense			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275	65217	65217		Cadherins / Cadherin-related	14674	protein-coding gene	gene with protein product	cadherin-related family member 15	605514	deafness, autosomal recessive 23, protocadherin 15	USH1F, DFNB23	NA	11398101, 14570705	Standard	NM_033056	NM_033056	NA	Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.2230G>T	10.37:g.55826528C>A	ENSP00000363076:p.Gly744Cys	NA	A6NL19|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	37		.	.	.	.	.	.	.	.	.	.	C	21.6	4.170170	0.78452	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.63255	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;-0.03;0.58;0.58;0.58;0.58	5.85	5.85	0.93711	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.67249	0.2873	L	0.60067	1.865	0.80722	D	1	B;B;B;B;B;B;B;B;P;B;P;P;B;P;P	0.40553	0.289;0.045;0.186;0.097;0.285;0.045;0.289;0.254;0.529;0.289;0.529;0.529;0.037;0.721;0.529	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.44163	0.33;0.071;0.208;0.16;0.232;0.104;0.33;0.35;0.443;0.232;0.33;0.33;0.067;0.32;0.33	T	0.69957	-0.5004	9	0.87932	D	0	.	18.9349	0.92582	0.0:1.0:0.0:0.0	.	715;737;737;742;666;700;737;737;744;744;737;742;737;715;737	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	C	744;742;737;737;348;744;700;737;715;715;737;737;742;666;737	ENSP00000363076:G744C;ENSP00000410304:G742C;ENSP00000378826:G737C;ENSP00000386693:G348C;ENSP00000378832:G744C;ENSP00000378820:G700C;ENSP00000354950:G737C;ENSP00000378821:G715C;ENSP00000363068:G715C;ENSP00000322604:G737C;ENSP00000378818:G737C;ENSP00000412628:G666C;ENSP00000363066:G737C	ENSP00000322604:G737C	G	-	1	0	PCDH15	55496534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.661000	0.61518	2.773000	0.95371	0.655000	0.94253	GGT	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000291336.1		-	ENST00000373965.2	Missense_Mutation	SNP	10 : 55826528 - 55826528 A PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	401	101
PCDHB14	56122	broad.mit.edu	37	5	140604697	140604697	+	Silent	SNP	G	G	A	rs147849897	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:140604697G>A	ENST00000239449.4	+	1	1620	c.1620G>A	c.(1618-1620)gcG>gcA	p.A540A	PCDHB14_ENST00000515856.2_Silent_p.A387A	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	540	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.A540A(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCCCCGGCGTTGAGCAGCG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(141;50 1831 27899 33809 37648)							NA				1	Substitution - coding silent(1)	endometrium(1)											48	54	52			NA	NA	5		NA											NA				140604697		2203	4299	6502	SO:0001819	synonymous_variant			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327	56122	56122		Cadherins / Protocadherins : Clustered	8685	other	protocadherin		606340			NA	10380929	Standard	NM_018934	NM_018934	NA	Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1620G>A	5.37:g.140604697G>A		NA	Q4FZA4|Q4KN11	37	CCDS4256.1																																																																																			PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251814.2		+	ENST00000239449.4	Silent	SNP	5 : 140604697 - 140604697 A PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	726	227
PDAP1	11333	broad.mit.edu	37	7	98995523	98995523	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:98995523C>T	ENST00000350498.3	-	5	729	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	PDAP1_ENST00000496335.1_5'UTR	NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	150					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	AGCCTCCTCCCGCTGTTTCCG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	83	85			NA	NA	7		NA											NA				98995523		2203	4300	6503	SO:0001583	missense			U41745	CCDS5662.1	7q	2008-07-18			ENSG00000106244	ENSG00000106244	11333	11333			14634	protein-coding gene	gene with protein product	PDGF associated protein	607075			NA	8780057	Standard	NM_014891	NM_014891	NA	Approved	PAP1, PAP, HASPP28	uc003uqe.3	Q13442	OTTHUMG00000154629	ENST00000350498.3:c.449G>A	7.37:g.98995523C>T	ENSP00000222968:p.Arg150Gln	NA	D6W5S5|Q92906	37	CCDS5662.1	.	.	.	.	.	.	.	.	.	.	C	37	6.008410	0.97195	.	.	ENSG00000106244	ENST00000350498	.	.	.	5.13	5.13	0.70059	Casein kinase substrate, phosphoprotein PP28 (1);	0.000000	0.85682	D	0.000000	D	0.87245	0.6129	H	0.94808	3.585	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.90785	0.4682	9	0.87932	D	0	-12.552	18.9358	0.92584	0.0:1.0:0.0:0.0	.	150	Q13442	HAP28_HUMAN	Q	150	.	ENSP00000222968:R150Q	R	-	2	0	PDAP1	98833459	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.582000	0.82546	2.553000	0.86117	0.650000	0.86243	CGG	PDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336388.2		-	ENST00000350498.3	Missense_Mutation	SNP	7 : 98995523 - 98995523 T PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	562	166
PSME4	23198	broad.mit.edu	37	2	54133986	54133986	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:54133986T>C	ENST00000404125.1	-	25	2859	c.2804A>G	c.(2803-2805)cAt>cGt	p.H935R	PSME4_ENST00000421748.2_Missense_Mutation_p.H79R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	935					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGCTCTGATATGTTGTTTTTT	0.323		NA											T	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	0.0014	SNP								NA				0													68	67	67			NA	NA	2		NA											NA				54133986		2203	4300	6503	SO:0001583	missense			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878	23198	23198		Proteasome (prosome, macropain) subunits	20635	protein-coding gene	gene with protein product		607705			NA	7584044, 12093752	Standard	XM_040158	NM_014614	NA	Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2804A>G	2.37:g.54133986T>C	ENSP00000384211:p.His935Arg	NA	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	37	CCDS33197.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	15.37	2.813146	0.50527	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.10960	2.82;2.82	5.45	5.45	0.79879	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.25306	0.0615	L	0.46947	1.48	0.80722	D	1	P;D;B	0.89917	0.669;1.0;0.287	B;D;B	0.74674	0.122;0.984;0.057	T	0.01266	-1.1401	10	0.25106	T	0.35	.	15.8205	0.78638	0.0:0.0:0.0:1.0	.	310;79;935	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	R	79;935	ENSP00000410830:H79R;ENSP00000384211:H935R	ENSP00000384211:H935R	H	-	2	0	PSME4	53987490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.201000	0.70794	0.533000	0.62120	CAT	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324163.1		-	ENST00000404125.1	Missense_Mutation	SNP	2 : 54133986 - 54133986 C PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	254	71
PTPRH	5794	broad.mit.edu	37	19	55711614	55711614	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:55711614G>A	ENST00000376350.3	-	7	1432	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.S292S	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	470	Fibronectin type-III 5.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S470S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTGTGGAGATGCTGACATTCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											121	103	109			NA	NA	19		NA											NA				55711614		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031	5794	5794		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9672	protein-coding gene	gene with protein product		602510			NA	8294459	Standard		XM_006723312	NA	Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1410C>T	19.37:g.55711614G>A		NA	Q15426|Q2NKN9|Q2NKP0	37	CCDS33110.1																																																																																			PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452649.1		-	ENST00000376350.3	Silent	SNP	19 : 55711614 - 55711614 A PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	383	77
SHANK1	50944	broad.mit.edu	37	19	51189519	51189519	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:51189519C>T	ENST00000293441.1	-	20	2570	c.2552G>A	c.(2551-2553)cGa>cAa	p.R851Q	SHANK1_ENST00000391813.1_Missense_Mutation_p.R238Q|SHANK1_ENST00000359082.3_Missense_Mutation_p.R842Q|SHANK1_ENST00000391814.1_Missense_Mutation_p.R859Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	851					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACCTTTGGGTCGGTGTTTGCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	68	71			NA	NA	19		NA											NA				51189519		2203	4300	6503	SO:0001583	missense			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681	50944	50944		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	15474	protein-coding gene	gene with protein product	somatostatin receptor-interacting protein	604999			NA	10551867	Standard	NM_016148	NM_016148	NA	Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2552G>A	19.37:g.51189519C>T	ENSP00000293441:p.Arg851Gln	NA	A8MXP5|B7WNY6|Q9NYW9	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081563	0.76528	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	3.91	3.91	0.45181	.	0.121407	0.31381	U	0.007749	T	0.62816	0.2459	M	0.75615	2.305	0.45914	D	0.998753	D;D	0.89917	0.99;1.0	B;D	0.81914	0.34;0.995	T	0.64449	-0.6405	10	0.39692	T	0.17	-10.4541	15.2111	0.73225	0.0:1.0:0.0:0.0	.	851;238	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	Q	851;238;842;859	ENSP00000293441:R851Q;ENSP00000375689:R238Q;ENSP00000351984:R842Q;ENSP00000375690:R859Q	ENSP00000293441:R851Q	R	-	2	0	SHANK1	55881331	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	5.717000	0.68446	2.211000	0.71520	0.478000	0.44815	CGA	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268071.1		-	ENST00000293441.1	Missense_Mutation	SNP	19 : 51189519 - 51189519 T PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	424	199
SMAD4	4089	broad.mit.edu	37	18	48603028	48603028	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr18:48603028T>A	ENST00000588745.1	+	7	1041	c.1041T>A	c.(1039-1041)tgT>tgA	p.C347*	SMAD4_ENST00000342988.3_Nonsense_Mutation_p.C443*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.C443*			Q13485	SMAD4_HUMAN	SMAD family member 4	443	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGCGTCAGTGTCATCGACAGA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				39	Whole gene deletion(36)|Unknown(2)|Deletion - Frameshift(1)	pancreas(27)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)											43	44	44			NA	NA	18		NA											NA				48603028		2203	4300	6503	SO:0001587	stop_gained			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646	4089	4089		SMADs	6770	protein-coding gene	gene with protein product		600993	MAD, mothers against decapentaplegic homolog 4 (Drosophila), SMAD, mothers against DPP homolog 4 (Drosophila)	MADH4	NA	8553070, 8774881	Standard	NM_005359	NM_005359	NA	Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000588745.1:c.1041T>A	18.37:g.48603028T>A	ENSP00000464901:p.Cys347*	NA	A8K405	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	41	9.134028	0.99077	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.03	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7929	0.52080	0.0:0.0806:0.0:0.9194	.	.	.	.	X	443	.	ENSP00000341551:C443X	C	+	3	2	SMAD4	46857026	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.233000	0.32648	2.308000	0.77769	0.533000	0.62120	TGT	SMAD4-004	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449729.1		+	ENST00000588745.1	Nonsense_Mutation	SNP	18 : 48603028 - 48603028 A PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	198	77
SPECC1L	23384	broad.mit.edu	37	22	24717438	24717438	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr22:24717438G>A	ENST00000314328.9	+	5	775	c.490G>A	c.(490-492)Gtt>Att	p.V164I	SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000437398.1_Missense_Mutation_p.V164I|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.V164I|SPECC1L_ENST00000541492.1_Missense_Mutation_p.V164I	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	164					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AGAATGTGACGTTCGTATGAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	96	100			NA	NA	22		NA											NA				24717438		2203	4300	6503	SO:0001583	missense			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014	23384	23384			29022	protein-coding gene	gene with protein product	cytokinesis and spindle organization A, cytospin A	614140	SPECC1-like		NA	9205841	Standard	NM_015330	NM_001254733	NA	Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.490G>A	22.37:g.24717438G>A	ENSP00000325785:p.Val164Ile	NA	O15081	37	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	G	5.588	0.293367	0.10567	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492;ENST00000440893	T;T;T;T;T	0.59224	0.28;2.77;0.28;3.29;0.97	5.72	2.48	0.30137	.	0.355674	0.31051	N	0.008356	T	0.34048	0.0884	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14924	-1.0455	10	0.22109	T	0.4	-8.1952	7.4816	0.27408	0.3615:0.0:0.6385:0.0	.	164;164	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	I	192;164;164;164;164;103	ENSP00000393363:V164I;ENSP00000405671:V164I;ENSP00000325785:V164I;ENSP00000439633:V164I;ENSP00000414354:V103I	ENSP00000325785:V164I	V	+	1	0	SPECC1L	23047438	0.128000	0.22383	0.202000	0.23494	0.790000	0.44656	0.605000	0.24179	0.346000	0.23899	-0.145000	0.13849	GTT	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319986.2		+	ENST00000314328.9	Missense_Mutation	SNP	22 : 24717438 - 24717438 A PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	483	151
ST8SIA6	338596	broad.mit.edu	37	10	17363216	17363216	+	Silent	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:17363216C>T	ENST00000377602.4	-	8	932	c.858G>A	c.(856-858)acG>acA	p.T286T		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	286					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ACTCTTCGAGCGTGTAGTATA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	146	144			NA	NA	10		NA											NA				17363216		2203	4300	6503	SO:0001819	synonymous_variant				CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488	338596	338596		Sialyltransferases	23317	protein-coding gene	gene with protein product	ST8Sia VI	610139	sialyltransferase 8F (alpha-2, 8-sialyltransferase)	SIAT8F	NA	11980897	Standard	NM_001004470	XR_242697	NA	Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.858G>A	10.37:g.17363216C>T		NA	B0YJ97|B9EH72|Q5VZH4	37	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.420576	0.01136	.	.	ENSG00000148488	ENST00000440449	.	.	.	5.18	-7.5	0.01351	.	.	.	.	.	T	0.30978	0.0782	.	.	.	0.32113	N	0.589013	.	.	.	.	.	.	T	0.36359	-0.9751	4	.	.	.	0.8831	5.9037	0.18980	0.2924:0.3042:0.0:0.4034	.	.	.	.	T	107	.	.	A	-	1	0	ST8SIA6	17403222	0.002000	0.14202	0.002000	0.10522	0.018000	0.09664	-1.684000	0.01932	-1.523000	0.01767	-1.154000	0.01816	GCT	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047036.1		-	ENST00000377602.4	Silent	SNP	10 : 17363216 - 17363216 T PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	1567	202
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151	112	125			NA	NA	17		NA											NA				7577539		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.742C>T	17.37:g.7577539G>A	ENSP00000391127:p.Arg248Trp	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577539 - 7577539 A PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	251	86
UBR4	23352	broad.mit.edu	37	1	19477078	19477078	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:19477078G>A	ENST00000375254.3	-	49	7450	c.7423C>T	c.(7423-7425)Ctg>Ttg	p.L2475L	UBR4_ENST00000375226.2_Silent_p.L2475L|UBR4_ENST00000375267.2_Silent_p.L2475L|UBR4_ENST00000375217.2_Silent_p.L2475L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2475					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TACCTCTCCAGGACAGTTCCA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	76	77			NA	NA	1		NA											NA				19477078		2203	4300	6503	SO:0001819	synonymous_variant			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481	23352	23352		Ubiquitin protein ligase E3 component n-recognins	30313	protein-coding gene	gene with protein product		609890	zinc finger, UBR1 type 1	ZUBR1	NA	14702039, 10718198, 16055722	Standard	NM_020765	XM_005245802	NA	Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7423C>T	1.37:g.19477078G>A		NA	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	37	CCDS189.1																																																																																			UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007085.1		-	ENST00000375254.3	Silent	SNP	1 : 19477078 - 19477078 A PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	1219	201
WNT7B	7477	broad.mit.edu	37	22	46327243	46327243	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr22:46327243C>T	ENST00000409496.3	-	3	794	c.317G>A	c.(316-318)cGt>cAt	p.R106H	WNT7B_ENST00000339464.4_Missense_Mutation_p.R102H|WNT7B_ENST00000410089.1_Missense_Mutation_p.R86H|WNT7B_ENST00000410058.1_Missense_Mutation_p.R102H			P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	102					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGCCTCACGGCTCCCTGC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	18	18			NA	NA	22		NA											NA				46327243		2201	4298	6499	SO:0001583	missense			AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064	7477	7477		Wingless-type MMTV integration sites, Endogenous ligands	12787	protein-coding gene	gene with protein product		601967			NA	8168088, 9284940, 11562755	Standard	NM_058238	NM_058238	NA	Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000409496.3:c.317G>A	22.37:g.46327243C>T	ENSP00000386546:p.Arg106His	NA	B8A596|Q96Q12	37		.	.	.	.	.	.	.	.	.	.	c	20.9	4.061673	0.76187	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058;ENST00000428540	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	3.34	3.34	0.38264	.	0.000000	0.64402	U	0.000001	D	0.91536	0.7327	H	0.95982	3.75	0.51767	D	0.99993	D;D	0.63880	0.977;0.993	P;P	0.62491	0.839;0.903	D	0.94130	0.7387	10	0.87932	D	0	.	13.8568	0.63531	0.0:1.0:0.0:0.0	.	106;102	A8K0G1;P56706	.;WNT7B_HUMAN	H	102;86;106;102;35	ENSP00000341032:R102H;ENSP00000386781:R86H;ENSP00000386546:R106H;ENSP00000387217:R102H;ENSP00000392750:R35H	ENSP00000341032:R102H	R	-	2	0	WNT7B	44705907	1.000000	0.71417	0.860000	0.33809	0.904000	0.53231	4.484000	0.60271	1.709000	0.51313	0.461000	0.40582	CGT	WNT7B-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000336420.1		-	ENST00000409496.3	Missense_Mutation	SNP	22 : 46327243 - 46327243 T PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	179	52
ZNF629	23361	broad.mit.edu	37	16	30793072	30793072	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:30793072G>A	ENST00000262525.4	-	3	2784	c.2577C>T	c.(2575-2577)ctC>ctT	p.L859L		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	859					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGCTCCTATGGAGCAGGAGGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	36	35			NA	NA	16		NA											NA				30793072		1841	4100	5941	SO:0001819	synonymous_variant			AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870	23361	23361		Zinc fingers, C2H2-type	29008	protein-coding gene	gene with protein product			zinc finger protein 65	ZNF65	NA	9205841	Standard	NM_015309	NM_001080417	NA	Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.2577C>T	16.37:g.30793072G>A		NA	Q15938	37	CCDS45463.1																																																																																			ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434291.1		-	ENST00000262525.4	Silent	SNP	16 : 30793072 - 30793072 A PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	310	99
ZNF676	163223	broad.mit.edu	37	19	22362994	22362994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:22362994C>A	ENST00000397121.2	-	3	1842	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	509					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)				TTGCCACATTCTTCACATTTG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	68	67			NA	NA	19		NA											NA				22362994		2156	4276	6432	SO:0001587	stop_gained			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.1525G>T	19.37:g.22362994C>A	ENSP00000380310:p.Glu509*	NA	A8MVX5	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	23.9	4.466068	0.84425	.	.	ENSG00000196109	ENST00000397121	.	.	.	0.81	-1.62	0.08372	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.3206	0.26526	0.0:0.7253:0.2747:0.0	.	.	.	.	X	509	.	ENSP00000380310:E509X	E	-	1	0	ZNF676	22154834	0.000000	0.05858	0.086000	0.20670	0.086000	0.17979	-0.518000	0.06267	0.181000	0.19994	0.184000	0.17185	GAA	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464392.1		-	ENST00000397121.2	Nonsense_Mutation	SNP	19 : 22362994 - 22362994 A PAAD-TCGA-HV-A5A3-Tumor-SM-47KL7	372	89
