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
ABCA13	154664	broad.mit.edu	37	7	48313734	48313734	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:48313734G>A	ENST00000435803.1	+	17	4495	c.4471G>A	c.(4471-4473)Gct>Act	p.A1491T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1491					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATTTTATTAGCTCTTTTAAA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	25	25			NA	NA	7		NA											NA				48313734		1799	4053	5852	SO:0001583	missense			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869	154664	154664		ATP binding cassette transporters / subfamily A	14638	protein-coding gene	gene with protein product		607807			NA	12697998	Standard	NM_152701	NM_152701	NA	Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4471G>A	7.37:g.48313734G>A	ENSP00000411096:p.Ala1491Thr	NA	Q6ZTT7|Q86WI2|Q8N248	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	2.525	-0.309902	0.05458	.	.	ENSG00000179869	ENST00000435803	D	0.84589	-1.87	5.44	2.11	0.27256	.	0.308537	0.22285	N	0.062075	T	0.57373	0.2049	N	0.01800	-0.715	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.31138	-0.9954	9	.	.	.	.	3.223	0.06723	0.6327:0.0:0.1574:0.2098	.	1491	Q86UQ4	ABCAD_HUMAN	T	1491	ENSP00000411096:A1491T	.	A	+	1	0	ABCA13	48284280	0.195000	0.23338	1.000000	0.80357	0.964000	0.63967	1.733000	0.38156	0.211000	0.20683	0.563000	0.77884	GCT	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341964.2		+	ENST00000435803.1	Missense_Mutation	SNP	7 : 48313734 - 48313734 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	130	52
ABCB1	5243	broad.mit.edu	37	7	87229495	87229495	+	Missense_Mutation	SNP	A	A	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:87229495A>C	ENST00000265724.3	-	3	423	c.6T>G	c.(4-6)gaT>gaG	p.D2E	ABCB1_ENST00000543898.1_Missense_Mutation_p.D2E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	2					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCCCTTCAAGATCCATTCCGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	76	78			NA	NA	7		NA											NA				87229495		2203	4300	6503	SO:0001583	missense			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563	5243	5243		CD molecules, ATP binding cassette transporters / subfamily B	40	protein-coding gene	gene with protein product	multidrug resistance protein 1	171050	colchicin sensitivity	PGY1, MDR1, CLCS	NA	3027054	Standard	NM_000927	NM_000927	NA	Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.6T>G	7.37:g.87229495A>C	ENSP00000265724:p.Asp2Glu	NA	A8K294|Q12755|Q14812	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	A	7.979	0.750747	0.15778	.	.	ENSG00000085563	ENST00000265724;ENST00000543898;ENST00000416177;ENST00000394661	D;D;T	0.87966	-2.21;-2.32;1.9	3.89	-4.18	0.03846	.	1.413240	0.05199	N	0.504565	T	0.68284	0.2984	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.12156	0.0;0.007	T	0.54309	-0.8313	10	0.21540	T	0.41	-8.3796	1.998	0.03461	0.2186:0.4511:0.178:0.1522	.	2;2	B5AK60;P08183	.;MDR1_HUMAN	E	2	ENSP00000265724:D2E;ENSP00000444095:D2E;ENSP00000399419:D2E	ENSP00000265724:D2E	D	-	3	2	ABCB1	87067431	0.221000	0.23642	0.014000	0.15608	0.035000	0.12851	0.083000	0.14871	-0.773000	0.04596	0.533000	0.62120	GAT	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335444.2		-	ENST00000265724.3	Missense_Mutation	SNP	7 : 87229495 - 87229495 C PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	188	14
ADAMTS9	56999	broad.mit.edu	37	3	64667008	64667008	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:64667008T>C	ENST00000498707.1	-	3	890	c.548A>G	c.(547-549)tAt>tGt	p.Y183C	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.Y183C|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Y183C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	183					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTCAATAAAATAATCCCCATC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	138	141			NA	NA	3		NA											NA				64667008		2203	4300	6503	SO:0001583	missense			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638	56999	56999		ADAM metallopeptidases with thrombospondin type 1 motif	13202	protein-coding gene	gene with protein product		605421	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9		NA	10936055	Standard		NM_182920	NA	Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.548A>G	3.37:g.64667008T>C	ENSP00000418735:p.Tyr183Cys	NA	A1L4L0|B9ZVN0|Q9NR29	37	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.670389	0.67814	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	T;T;T	0.16457	2.34;2.34;2.34	6.04	6.04	0.98038	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	H	0.94462	3.54	0.54753	D	0.999985	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.99;0.976;0.997	T	0.68659	-0.5350	10	0.87932	D	0	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	183;183;183;183	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	C	183	ENSP00000295903:Y183C;ENSP00000418735:Y183C;ENSP00000419217:Y183C	ENSP00000295903:Y183C	Y	-	2	0	ADAMTS9	64642048	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.282000	0.58971	2.317000	0.78254	0.459000	0.35465	TAT	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351891.1		-	ENST00000498707.1	Missense_Mutation	SNP	3 : 64667008 - 64667008 C PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	340	24
ADAMTSL3	57188	broad.mit.edu	37	15	84659900	84659900	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:84659900G>T	ENST00000286744.5	+	23	4131	c.3907G>T	c.(3907-3909)Gtt>Ttt	p.V1303F	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V1303F	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1303	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCATCTGTCTGTTGTGGTTGG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													255	233	241			NA	NA	15		NA											NA				84659900		2203	4300	6503	SO:0001583	missense			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218	57188	57188		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	14633	protein-coding gene	gene with protein product		609199			NA	9628581, 10574462	Standard	NM_207517	NM_207517	NA	Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3907G>T	15.37:g.84659900G>T	ENSP00000286744:p.Val1303Phe	NA	A1A566|A1A567|Q9ULI7	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	8.407	0.843177	0.16963	.	.	ENSG00000156218	ENST00000286744	T	0.68025	-0.3	5.34	2.3	0.28687	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.521289	0.14289	N	0.329059	T	0.71962	0.3402	M	0.72118	2.19	0.09310	N	1	P;P	0.41313	0.745;0.664	P;B	0.51266	0.664;0.168	T	0.62562	-0.6828	10	0.72032	D	0.01	.	7.3249	0.26549	0.2092:0.1221:0.6686:0.0	.	1303;1303	P82987-2;P82987	.;ATL3_HUMAN	F	1303	ENSP00000286744:V1303F	ENSP00000286744:V1303F	V	+	1	0	ADAMTSL3	82450904	0.000000	0.05858	0.001000	0.08648	0.086000	0.17979	0.126000	0.15769	0.638000	0.30545	-0.140000	0.14226	GTT	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000304007.2		+	ENST00000286744.5	Missense_Mutation	SNP	15 : 84659900 - 84659900 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	708	7
AFF1	4299	broad.mit.edu	37	4	87968372	87968372	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:87968372delC	ENST00000307808.6	+	3	1084	c.664delC	c.(664-666)cccfs	p.P222fs	AFF1_ENST00000395146.4_Frame_Shift_Del_p.P229fs|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	222						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCAAACTCTTCCCCGGACGCA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	133	133			NA	NA	4		NA											NA				87968372		2203	4300	6503	SO:0001589	frameshift_variant			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493	4299	4299			7135	protein-coding gene	gene with protein product		159557	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2, pre-B-cell monocytic leukemia partner 1	PBM1, MLLT2	NA	7689231, 1423625, 8353274	Standard	NM_005935	NM_005935	NA	Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.664delC	4.37:g.87968372delC	ENSP00000305689:p.Pro222fs	NA		37	CCDS3616.1																																																																																			AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253053.3		+	ENST00000307808.6	Frame_Shift_Del	DEL	4 : 87968372 - 87968372 - PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	867	454
AGAP2-AS1	100130776	broad.mit.edu	37	12	58121196	58121196	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:58121196G>A	ENST00000542466.2	+	2	557	c.421G>A	c.(421-423)Gcg>Acg	p.A141T	AGAP2_ENST00000547588.1_Silent_p.R1009R|AGAP2_ENST00000257897.3_Silent_p.R653R					AGAP2 antisense RNA 1	NA											NA						TTTCCCACACGCGGTTGGCCG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	47	50			NA	NA	12		NA											NA				58121196		2203	4299	6502	SO:0001583	missense			BC039697, BC069024		12q14.1	2013-05-30			ENSG00000255737	ENSG00000255737	100130776	100130776		Long non-coding RNAs	48633	non-coding RNA	RNA, long non-coding					NA		Standard		NR_027032	NA	Approved				OTTHUMG00000170286	ENST00000542466.2:c.421G>A	12.37:g.58121196G>A	ENSP00000437523:p.Ala141Thr	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.84|16.84	3.233844|3.233844	0.58886|0.58886	.|.	.|.	ENSG00000255737|ENSG00000135439	ENST00000542466|ENST00000328568	.|T	.|0.46451	.|0.87	5.0|5.0	2.18|2.18	0.27775|0.27775	.|.	.|0.269566	.|0.41823	.|D	.|0.000819	T|T	0.51143|0.51143	0.1657|0.1657	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P|.	0.39624|.	0.681|.	B|.	0.26614|.	0.071|.	T|T	0.50346|0.50346	-0.8839|-0.8839	7|7	0.87932|0.72032	D|D	0|0.01	.|.	9.7483|9.7483	0.40459|0.40459	0.2232:0.0:0.7768:0.0|0.2232:0.0:0.7768:0.0	.|.	141|.	B7Z718|.	.|.	T|C	141|853	.|ENSP00000328160:R853C	ENSP00000437523:A141T|ENSP00000328160:R853C	A|R	+|-	1|1	0|0	RP11-571M6.6|AGAP2	56407463|56407463	0.913000|0.913000	0.31002|0.31002	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.232000|1.232000	0.32636|0.32636	0.245000|0.245000	0.21373|0.21373	0.655000|0.655000	0.94253|0.94253	GCG|CGT	AGAP2-AS1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000408368.1		+	ENST00000542466.2	Missense_Mutation	SNP	12 : 58121196 - 58121196 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	76	66
AKAP11	11215	broad.mit.edu	37	13	42876661	42876661	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:42876661C>T	ENST00000025301.2	+	8	3954	c.3779C>T	c.(3778-3780)gCg>gTg	p.A1260V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1260					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGCAATTTTGCGGGTGATCTG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	71	70			NA	NA	13		NA											NA				42876661		2203	4300	6503	SO:0001583	missense			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516	11215	11215		A-kinase anchor proteins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	369	protein-coding gene	gene with protein product	AKAP 220, A-kinase anchoring protein, 220kDa, protein kinase A anchoring protein 11, protein phosphatase 1, regulatory subunit 44	604696			NA	9734811, 8621616	Standard	NM_016248	NM_016248	NA	Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3779C>T	13.37:g.42876661C>T	ENSP00000025301:p.Ala1260Val	NA	O75124|Q9NUK7	37	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523180	0.85600	.	.	ENSG00000023516	ENST00000025301	T	0.60040	0.22	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	T	0.76828	0.4042	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77469	-0.2576	10	0.59425	D	0.04	.	19.6299	0.95698	0.0:1.0:0.0:0.0	.	1260	Q9UKA4	AKA11_HUMAN	V	1260	ENSP00000025301:A1260V	ENSP00000025301:A1260V	A	+	2	0	AKAP11	41774661	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.456000	0.80751	2.639000	0.89480	0.655000	0.94253	GCG	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044700.2		+	ENST00000025301.2	Missense_Mutation	SNP	13 : 42876661 - 42876661 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	864	6
AKAP9	10142	broad.mit.edu	37	7	91674456	91674456	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:91674456C>A	ENST00000356239.3	+	21	5530	c.5297C>A	c.(5296-5298)tCt>tAt	p.S1766Y	AKAP9_ENST00000358100.2_Missense_Mutation_p.S1778Y|AKAP9_ENST00000359028.2_Missense_Mutation_p.S1778Y	NM_005751.4|NM_147185.2	NP_005742.4|NP_671714.1	Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1778					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGCCAGTCATCTGCCAGCCTA	0.418		NA	T	BRAF	papillary thyroid									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													116	115	116			NA	NA	7		NA											NA				91674456		2203	4300	6503	SO:0001583	missense			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914	10142	10142		A-kinase anchor proteins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	379	protein-coding gene	gene with protein product	A-kinase anchoring protein 450, AKAP9-BRAF fusion protein, AKAP120-like protein, centrosome- and golgi-localized protein kinase N-associated protein, protein kinase A anchoring protein 9, A-kinase anchor protein, 350kDa, protein phosphatase 1, regulatory subunit 45, yotiao	604001			NA	9482789, 10390370, 24475373	Standard	NM_005751	NM_147185	NA	Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000356239.3:c.5297C>A	7.37:g.91674456C>A	ENSP00000348573:p.Ser1766Tyr	NA	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	37	CCDS5622.1	.	.	.	.	.	.	.	.	.	.	C	9.196	1.027183	0.19512	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	T;T;T	0.03580	3.88;3.88;3.88	4.64	2.78	0.32641	.	0.383860	0.19323	N	0.117094	T	0.08891	0.0220	M	0.61703	1.905	0.09310	N	1	P;P;P	0.51351	0.906;0.944;0.944	P;P;P	0.51135	0.459;0.66;0.66	T	0.06534	-1.0821	10	0.87932	D	0	.	10.2829	0.43550	0.0:0.79:0.1354:0.0746	.	1778;1766;1766	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	Y	1766;1778;1778;1778	ENSP00000348573:S1766Y;ENSP00000351922:S1778Y;ENSP00000350813:S1778Y	ENSP00000348573:S1766Y	S	+	2	0	AKAP9	91512392	0.042000	0.20092	0.035000	0.18076	0.487000	0.33371	1.006000	0.29847	0.657000	0.30906	0.650000	0.86243	TCT	AKAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253808.2		+	ENST00000356239.3	Missense_Mutation	SNP	7 : 91674456 - 91674456 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	627	277
AKNA	80709	broad.mit.edu	37	9	117099537	117099537	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:117099537G>A	ENST00000307564.4	-	22	4278	c.4117C>T	c.(4117-4119)Ccg>Tcg	p.P1373S	AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Missense_Mutation_p.P833S|AKNA_ENST00000374088.3_Missense_Mutation_p.P1373S|AKNA_ENST00000374075.5_Missense_Mutation_p.P1292S|AKNA_ENST00000374079.4_Missense_Mutation_p.P318S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GCTGTGGGCGGCCACTTGGCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	46	45			NA	NA	9		NA											NA				117099537		2203	4299	6502	SO:0001583	missense			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948	80709	80709			24108	protein-coding gene	gene with protein product		605729			NA	11268217, 11853319	Standard	NM_030767	NM_030767	NA	Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.4117C>T	9.37:g.117099537G>A	ENSP00000303769:p.Pro1373Ser	NA	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	37	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701037	0.30142	.	.	ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T;T	0.48522	2.14;0.81;2.14;1.88;2.12	3.92	1.73	0.24493	.	.	.	.	.	T	0.32346	0.0826	L	0.27053	0.805	0.09310	N	1	B;B	0.16396	0.01;0.017	B;B	0.15052	0.005;0.012	T	0.21724	-1.0237	9	0.42905	T	0.14	3.4487	7.9837	0.30198	0.0:0.0:0.4496:0.5504	.	1373;1292	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	S	1373;318;1373;833;1292	ENSP00000303769:P1373S;ENSP00000363192:P318S;ENSP00000363201:P1373S;ENSP00000223791:P833S;ENSP00000363188:P1292S	ENSP00000223791:P833S	P	-	1	0	AKNA	116139358	0.292000	0.24362	0.038000	0.18304	0.023000	0.10783	0.861000	0.27885	0.616000	0.30141	0.462000	0.41574	CCG	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053767.2		-	ENST00000307564.4	Missense_Mutation	SNP	9 : 117099537 - 117099537 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	382	5
ALG10B	144245	broad.mit.edu	37	12	38714204	38714204	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:38714204A>T	ENST00000308742.4	+	3	927	c.611A>T	c.(610-612)aAg>aTg	p.K204M	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	204					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				ATTGCACAAAAGTTAACTGAG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	160	159			NA	NA	12		NA											NA				38714204		2203	4299	6502	SO:0001583	missense			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	144245	144245	2.4.1.256		31088	protein-coding gene	gene with protein product	potassium channel regulator 1, dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase		asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)		NA		Standard	NM_001013620	NM_001013620	NA	Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.611A>T	12.37:g.38714204A>T	ENSP00000310120:p.Lys204Met	NA	B2RPF4	37	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	N	8.765	0.924554	0.18056	.	.	ENSG00000175548	ENST00000308742	T	0.57436	0.4	3.24	2.04	0.26737	.	0.095913	0.64402	D	0.000001	T	0.40767	0.1130	L	0.45285	1.41	0.41659	D	0.989174	P	0.35527	0.507	B	0.37550	0.253	T	0.13764	-1.0497	10	0.31617	T	0.26	.	7.0859	0.25257	0.8831:0.0:0.1169:0.0	.	204	Q5I7T1	AG10B_HUMAN	M	204	ENSP00000310120:K204M	ENSP00000310120:K204M	K	+	2	0	ALG10B	37000471	1.000000	0.71417	0.004000	0.12327	0.540000	0.34992	4.001000	0.57046	0.595000	0.29777	0.448000	0.29417	AAG	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403349.1		+	ENST00000308742.4	Missense_Mutation	SNP	12 : 38714204 - 38714204 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	697	189
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				5	Substitution - Missense(5)	lung(3)|kidney(1)|endometrium(1)											109	106	107			NA	NA	2		NA											NA				112608394		2203	4300	6503	SO:0001583	missense			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107	64682	64682		Anaphase promoting complex subunits	19988	protein-coding gene	gene with protein product		608473			NA	11179667	Standard	NM_022662	NM_022662	NA	Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala	NA	Q2M3H8|Q9BSE6|Q9H8D0	37	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254045.2		-	ENST00000341068.3	Missense_Mutation	SNP	2 : 112608394 - 112608394 C PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	520	5
ANK3	288	broad.mit.edu	37	10	61834899	61834899	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:61834899G>A	ENST00000280772.2	-	37	5931	c.5740C>T	c.(5740-5742)Cgg>Tgg	p.R1914W	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	NA					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCGGTCATCCGCATTAGGTCC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	117	122			NA	NA	10		NA											NA				61834899		2203	4300	6503	SO:0001583	missense			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150	288	288		Ankyrin repeat domain containing	494	protein-coding gene	gene with protein product	ankyrin-3, node of Ranvier, ankyrin-G	600465			NA	7665168	Standard	NM_020987	NM_020987	NA	Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5740C>T	10.37:g.61834899G>A	ENSP00000280772:p.Arg1914Trp	NA	Q5VXD5	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012675	0.75161	.	.	ENSG00000151150	ENST00000280772	T	0.69806	-0.43	5.59	2.34	0.29019	.	0.000000	0.38381	N	0.001719	T	0.77685	0.4167	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80790	-0.1225	10	0.87932	D	0	.	13.3221	0.60438	0.0:0.0:0.4595:0.5405	.	1914	Q12955	ANK3_HUMAN	W	1914	ENSP00000280772:R1914W	ENSP00000280772:R1914W	R	-	1	2	ANK3	61504905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.526000	0.45607	1.309000	0.44985	0.655000	0.94253	CGG	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048201.4		-	ENST00000280772.2	Missense_Mutation	SNP	10 : 61834899 - 61834899 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	431	29
ANO1	55107	broad.mit.edu	37	11	69972275	69972275	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:69972275C>T	ENST00000355303.5	+	10	1376	c.1071C>T	c.(1069-1071)tgC>tgT	p.C357C	ANO1_ENST00000538023.1_Silent_p.C357C|ANO1_ENST00000316296.5_Silent_p.C329C|ANO1_ENST00000531349.1_Silent_p.C92C|ANO1_ENST00000398543.2_Silent_p.C241C|ANO1_ENST00000530676.1_Silent_p.C241C	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	357					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TGTACGGATGCGCCACCATGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	79	78			NA	NA	11		NA											NA				69972275		2070	4203	6273	SO:0001819	synonymous_variant			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620	55107	55107		Ion channels / Chloride channels : Calcium activated : Anoctamins	21625	protein-coding gene	gene with protein product		610108	oral cancer overexpressed 2, transmembrane protein 16A	ORAOV2, TMEM16A	NA	15067359, 18724360, 24692353	Standard	NM_018043	NM_018043	NA	Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1071C>T	11.37:g.69972275C>T		NA	A8KAM3|Q8IYY8|Q8N7V3	37	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	C	0.922	-0.715390	0.03206	.	.	ENSG00000131620	ENST00000530480	.	.	.	5.15	-7.75	0.01236	.	.	.	.	.	T	0.50446	0.1616	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57177	-0.7856	4	.	.	.	.	10.2927	0.43605	0.0:0.1776:0.187:0.6354	.	.	.	.	V	222	.	.	A	+	2	0	ANO1	69649923	0.322000	0.24634	0.410000	0.26471	0.220000	0.24768	-0.486000	0.06513	-1.962000	0.01014	-2.893000	0.00094	GCG	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393685.1		+	ENST00000355303.5	Silent	SNP	11 : 69972275 - 69972275 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	227	4
APC	324	broad.mit.edu	37	5	112162891	112162891	+	Nonsense_Mutation	SNP	C	C	T	rs137854580		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:112162891C>T	ENST00000457016.1	+	12	1875	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	APC_ENST00000508376.2_Nonsense_Mutation_p.R499*|APC_ENST00000257430.4_Nonsense_Mutation_p.R499*			P25054	APC_HUMAN	adenomatous polyposis coli	499	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.R499*(5)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TACACTAAGACGATATGCTGG	0.373		12	D, Mis, N, F, S		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		E, M, O	6	Substitution - Nonsense(5)|Unknown(1)	large_intestine(5)|skin(1)	GRCh37	CM930023	APC	M	rs137854580						135	123	127			NA	NA	5		NA											NA				112162891		2202	4300	6502	SO:0001587	stop_gained	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982	324	324		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Armadillo repeat containing	583	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 46	611731	adenomatosis polyposis coli		NA	1651563	Standard	NM_000038	NM_001127511	NA	Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1495C>T	5.37:g.112162891C>T	ENSP00000413133:p.Arg499*	NA	D3DT03|Q15162|Q15163|Q93042	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	40	8.025077	0.98616	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.85	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3767	14.9298	0.70906	0.2732:0.7267:0.0:0.0	.	.	.	.	X	499;481;499;499;499	.	ENSP00000257430:R499X	R	+	1	2	APC	112190790	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.513000	0.35823	1.461000	0.47929	0.655000	0.94253	CGA	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250738.2		+	ENST00000457016.1	Nonsense_Mutation	SNP	5 : 112162891 - 112162891 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	219	178
APH1A	51107	broad.mit.edu	37	1	150240457	150240457	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:150240457G>A	ENST00000360244.4	-	2	676	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	APH1A_ENST00000369109.3_Missense_Mutation_p.R62W|APH1A_ENST00000414276.2_Intron|APH1A_ENST00000461320.1_Intron	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	62					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCATCTGACCGGTCGGTCACA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	68	66			NA	NA	1		NA											NA				150240457		1972	4143	6115	SO:0001583	missense			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362	51107	51107			29509	protein-coding gene	gene with protein product		607629	anterior pharynx defective 1 homolog A (C. elegans)		NA	10810093, 12110170	Standard	NM_016022	NM_001077628	NA	Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000360244.4:c.184C>T	1.37:g.150240457G>A	ENSP00000353380:p.Arg62Trp	NA	Q5TB23|Q969R6|Q9BVG0|Q9Y386	37	CCDS41391.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895172	0.72639	.	.	ENSG00000117362	ENST00000369109;ENST00000360244	T;T	0.44881	0.91;0.91	5.0	4.08	0.47627	.	0.552403	0.18267	N	0.146425	T	0.21921	0.0528	N	0.08118	0	0.80722	D	1	P;P;P	0.48911	0.899;0.917;0.917	P;P;P	0.53185	0.526;0.657;0.72	T	0.15206	-1.0445	10	0.72032	D	0.01	-3.6332	10.4948	0.44770	0.0:0.0:0.6471:0.3528	.	62;62;62	Q96BI3-2;Q5TB22;Q96BI3	.;.;APH1A_HUMAN	W	62	ENSP00000358105:R62W;ENSP00000353380:R62W	ENSP00000353380:R62W	R	-	1	2	APH1A	148507081	0.990000	0.36364	1.000000	0.80357	0.998000	0.95712	2.104000	0.41815	1.307000	0.44944	0.591000	0.81541	CGG	APH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000035047.1		-	ENST00000360244.4	Missense_Mutation	SNP	1 : 150240457 - 150240457 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	733	6
ARID5B	84159	broad.mit.edu	37	10	63851964	63851964	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:63851964G>A	ENST00000279873.7	+	10	3152	c.2742G>A	c.(2740-2742)ccG>ccA	p.P914P	ARID5B_ENST00000309334.5_Silent_p.P671P	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	914					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CCAAGAACCCGCACAAACCTA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	80	79			NA	NA	10		NA											NA				63851964		2203	4300	6503	SO:0001819	synonymous_variant			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347	84159	84159		-	17362	protein-coding gene	gene with protein product		608538			NA	11483573, 11478881	Standard	XM_084482	NM_032199	NA	Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.2742G>A	10.37:g.63851964G>A		NA	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	37	CCDS31208.1																																																																																			ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048233.1		+	ENST00000279873.7	Silent	SNP	10 : 63851964 - 63851964 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1064	8
ARSB	411	broad.mit.edu	37	5	78264932	78264932	+	Silent	SNP	G	G	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:78264932G>C	ENST00000264914.4	-	2	932	c.396C>G	c.(394-396)ctC>ctG	p.L132L	ARSB_ENST00000396151.3_Silent_p.L132L|ARSB_ENST00000565165.1_Silent_p.L132L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	132					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CTTCTTTTAGGAGCTGGGGCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(169;563 1968 25780 26156 52266)							NA				0													152	161	158			NA	NA	5		NA											NA				78264932		2203	4300	6503	SO:0001819	synonymous_variant			M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	411	411	3.1.6.1	Arylsulfatase family	714	protein-coding gene	gene with protein product		611542			NA	2303452	Standard	NM_000046	NM_000046	NA	Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.396C>G	5.37:g.78264932G>C		NA	B2RC20|Q9UDI9	37	CCDS4043.1																																																																																			ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226932.2		-	ENST00000264914.4	Silent	SNP	5 : 78264932 - 78264932 C PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	578	16
ASIC3	9311	broad.mit.edu	37	7	150746330	150746330	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:150746330G>A	ENST00000357922.4	+	1	952	c.358G>A	c.(358-360)Gca>Aca	p.A120T	ASIC3_ENST00000349064.5_Missense_Mutation_p.A120T|ASIC3_ENST00000297512.8_Missense_Mutation_p.A120T	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	120					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity				NA						CCTGGATCCCGCAGAGCACGC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA,THR/ALA,THR/ALA	0,4404		0,0,2202	46	45	45		358,358,358	0.1	0	7		45	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	ACCN3	NM_004769.2,NM_020321.2,NM_020322.2	58,58,58	0,1,6499	AA,AG,GG	NA	0.0116,0.0,0.0077	benign,benign,benign	120/532,120/550,120/544	150746330	1,12999	2202	4298	6500	SO:0001583	missense			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199	9311	9311		Ion channels / Acid-sensing (proton-gated) ion channels	101	protein-coding gene	gene with protein product	testis sodium channel 1	611741	amiloride-sensitive cation channel 3, testis, amiloride-sensitive cation channel 3	ACCN3	NA	9571199, 9744806	Standard	NM_004769	NM_004769	NA	Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000357922.4:c.358G>A	7.37:g.150746330G>A	ENSP00000350600:p.Ala120Thr	NA	B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	37	CCDS5914.1	.	.	.	.	.	.	.	.	.	.	G	3.935	-0.015398	0.07681	0.0	1.16E-4	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.64085	-0.08;-0.08;-0.08	5.2	0.107	0.14544	.	0.246910	0.20236	U	0.096388	T	0.39118	0.1066	L	0.34521	1.04	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.10450	0.005;0.001;0.003	T	0.10064	-1.0646	10	0.13853	T	0.58	-5.1697	1.9702	0.03404	0.3099:0.1254:0.4362:0.1285	.	120;120;120	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	T	120	ENSP00000350600:A120T;ENSP00000344838:A120T;ENSP00000297512:A120T	ENSP00000297512:A120T	A	+	1	0	ACCN3	150377263	0.000000	0.05858	0.002000	0.10522	0.057000	0.15508	-0.269000	0.08596	0.032000	0.15435	-0.424000	0.05967	GCA	ASIC3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351723.2		+	ENST00000357922.4	Missense_Mutation	SNP	7 : 150746330 - 150746330 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	301	5
ASPM	259266	broad.mit.edu	37	1	197097650	197097650	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:197097650G>A	ENST00000367409.4	-	10	3162	c.2906C>T	c.(2905-2907)gCc>gTc	p.A969V	ASPM_ENST00000294732.7_Missense_Mutation_p.A969V|ASPM_ENST00000367408.1_Missense_Mutation_p.A219V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	969	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CAAGTCTACGGCAAGATTTGT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	116	118			NA	NA	1		NA											NA				197097650		2203	4300	6503	SO:0001583	missense			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279	259266	259266			19048	protein-coding gene	gene with protein product		605481	microcephaly, primary autosomal recessive 5, asp (abnormal spindle)-like, microcephaly associated (Drosophila)	MCPH5	NA	11078481	Standard	NM_018136	NM_018136	NA	Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2906C>T	1.37:g.197097650G>A	ENSP00000356379:p.Ala969Val	NA	Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	35	5.594647	0.96602	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.59638	0.25;0.25;0.25	5.77	5.77	0.91146	Calponin homology domain (4);	0.074702	0.56097	D	0.000036	T	0.74906	0.3778	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.73436	-0.3983	10	0.54805	T	0.06	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	969;969	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	V	969;969;219	ENSP00000356379:A969V;ENSP00000294732:A969V;ENSP00000356378:A219V	ENSP00000294732:A969V	A	-	2	0	ASPM	195364273	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.311000	0.96282	2.885000	0.99019	0.655000	0.94253	GCC	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088256.1		-	ENST00000367409.4	Missense_Mutation	SNP	1 : 197097650 - 197097650 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	934	6
ASXL3	80816	broad.mit.edu	37	18	31241680	31241680	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:31241680C>T	ENST00000269197.5	+	5	456	c.456C>T	c.(454-456)caC>caT	p.H152H		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCCAGCAGCACACCAAAAAGG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	69	70			NA	NA	18		NA											NA				31241680		1924	4147	6071	SO:0001819	synonymous_variant			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431	80816	80816			29357	protein-coding gene	gene with protein product		615115	KIAA1713, additional sex combs like 3 (Drosophila)	KIAA1713	NA	11214970	Standard		NM_030632	NA	Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.456C>T	18.37:g.31241680C>T		NA	Q6ZMX6|Q96MU3|Q9UFC5	37	CCDS45847.1																																																																																			ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441865.2		+	ENST00000269197.5	Silent	SNP	18 : 31241680 - 31241680 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	224	13
ATP8A2	51761	broad.mit.edu	37	13	26273464	26273464	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:26273464A>G	ENST00000381655.2	+	25	2507	c.2365A>G	c.(2365-2367)Aaa>Gaa	p.K789E	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.K749E	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	749					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACTCTCGTGCAAAGCGGTCAT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	66	66			NA	NA	13		NA											NA				26273464		1956	4143	6099	SO:0001583	missense			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	51761	51761	3.6.3.1	ATPases / P-type	13533	protein-coding gene	gene with protein product		605870	ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2, ATPase, aminophospholipid transporter-like, class I, type 8A, member 2		NA	11015572, 19778899	Standard	NM_016529	NM_016529	NA	Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2365A>G	13.37:g.26273464A>G	ENSP00000371070:p.Lys789Glu	NA	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.608460	0.66558	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.84516	-1.86;-1.86	5.88	5.88	0.94601	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90878	0.7134	M	0.64997	1.995	0.54753	D	0.999989	D;D;D	0.62365	0.976;0.97;0.991	D;P;D	0.68039	0.93;0.885;0.955	D	0.91720	0.5388	10	0.87932	D	0	.	16.2824	0.82697	1.0:0.0:0.0:0.0	.	749;569;749	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	E	789;749;569	ENSP00000371070:K789E;ENSP00000255283:K749E	ENSP00000255283:K749E	K	+	1	0	ATP8A2	25171464	1.000000	0.71417	0.241000	0.24154	0.172000	0.22775	9.334000	0.96470	2.250000	0.74265	0.533000	0.62120	AAA	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044236.2		+	ENST00000381655.2	Missense_Mutation	SNP	13 : 26273464 - 26273464 G PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	340	15
AUP1	550	broad.mit.edu	37	2	74754875	74754875	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:74754875G>A	ENST00000377526.3	-	8	1138	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	343						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						GACTGGGGGCGCAATCTGGGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	170	166			NA	NA	2		NA											NA				74754875		1998	4164	6162	SO:0001583	missense				CCDS42702.1	2p13	2008-05-21			ENSG00000115307	ENSG00000115307	550	550			891	protein-coding gene	gene with protein product		602434			NA	8812468, 12042322	Standard	NM_181575	XM_005264392	NA	Approved		uc002smf.3	Q9Y679	OTTHUMG00000129964	ENST00000377526.3:c.829C>T	2.37:g.74754875G>A	ENSP00000366748:p.Arg277Cys	NA	C0H5W8|Q9H866|Q9UNQ6|Q9Y685	37	CCDS42702.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903540	0.33628	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	.	.	.	5.42	3.61	0.41365	.	0.363552	0.27284	N	0.020078	T	0.22589	0.0545	N	0.08118	0	0.36431	D	0.864931	D;D;P	0.58620	0.983;0.958;0.61	B;B;B	0.41299	0.353;0.197;0.169	T	0.31392	-0.9945	9	0.66056	D	0.02	-5.1007	10.3604	0.43989	0.1647:0.0:0.8353:0.0	.	334;343;277	E7EU18;Q9Y679;Q9Y679-2	.;AUP1_HUMAN;.	C	277;341;279	.	ENSP00000258081:R341C	R	-	1	0	AUP1	74608383	0.118000	0.22208	0.865000	0.33974	0.980000	0.70556	3.183000	0.50918	1.304000	0.44892	0.561000	0.74099	CGC	AUP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252228.2		-	ENST00000377526.3	Missense_Mutation	SNP	2 : 74754875 - 74754875 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1041	7
B3GALTL	145173	broad.mit.edu	37	13	31858882	31858882	+	Silent	SNP	T	T	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:31858882T>A	ENST00000343307.4	+	11	1097	c.948T>A	c.(946-948)atT>atA	p.I316I	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	316					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		ATTTGGGAATTCCTAATACAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	95	96			NA	NA	13		NA											NA				31858882		2203	4300	6503	SO:0001819	synonymous_variant			AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676	145173	145173		Beta 3-glycosyltransferases	20207	protein-coding gene	gene with protein product		610308			NA	12943678, 16899492, 17032646	Standard	NM_194318	NM_194318	NA	Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.948T>A	13.37:g.31858882T>A		NA	A8K5F8|Q5W0H2|Q6NUI3	37	CCDS9341.1																																																																																			B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044396.3		+	ENST00000343307.4	Silent	SNP	13 : 31858882 - 31858882 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	358	31
BRINP3	339479	broad.mit.edu	37	1	190067701	190067701	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:190067701C>T	ENST00000367462.3	-	8	1979	c.1748G>A	c.(1747-1749)aGc>aAc	p.S583N	BRINP3_ENST00000534846.1_Missense_Mutation_p.S481N	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	583											NA						CATAAACCAGCTCTCAGAGTG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	113	112			NA	NA	1		NA											NA				190067701		2203	4300	6503	SO:0001583	missense			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670	339479	339479			22393	protein-coding gene	gene with protein product			family with sequence similarity 5, member C	FAM5C	NA	16018821, 15193423	Standard	NM_199051	NM_199051	NA	Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1748G>A	1.37:g.190067701C>T	ENSP00000356432:p.Ser583Asn	NA		37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858923	0.71834	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.25912	2.02;1.77	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.51719	0.1691	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.61080	0.989;0.981	D;D	0.70487	0.969;0.932	T	0.50448	-0.8827	10	0.72032	D	0.01	-2.16	17.5848	0.87978	0.0:1.0:0.0:0.0	.	481;583	B7Z260;Q76B58	.;FAM5C_HUMAN	N	583;481	ENSP00000356432:S583N;ENSP00000438022:S481N	ENSP00000356432:S583N	S	-	2	0	FAM5C	188334324	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.734000	0.84928	2.755000	0.94549	0.591000	0.81541	AGC	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086278.1		-	ENST00000367462.3	Missense_Mutation	SNP	1 : 190067701 - 190067701 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1440	353
C10orf90	118611	broad.mit.edu	37	10	128193005	128193005	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:128193005C>G	ENST00000356858.3	-	3	1474	c.623G>C	c.(622-624)aGg>aCg	p.R208T	C10orf90_ENST00000392694.1_Missense_Mutation_p.R208T|C10orf90_ENST00000284694.7_Missense_Mutation_p.R255T|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000544758.1_Missense_Mutation_p.R352T|C10orf90_ENST00000454341.1_Missense_Mutation_p.R255T			Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	255										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTGAGACACCCTGAGGTGGAC	0.522		NA									OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	98	95			NA	NA	10		NA											NA				128193005		2203	4300	6503	SO:0001583	missense			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493	118611	118611			26563	protein-coding gene	gene with protein product	fragile-site associated tumor suppressor				NA	20843368, 20154723	Standard	NM_001004298	NM_001004298	NA	Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000356858.3:c.623G>C	10.37:g.128193005C>G	ENSP00000349318:p.Arg208Thr	1563	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	37		.	.	.	.	.	.	.	.	.	.	C	17.83	3.485956	0.63962	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.28666	1.89;1.89;1.92;1.89;1.6	5.38	1.46	0.22682	.	0.499548	0.18438	N	0.141218	T	0.42854	0.1221	M	0.63843	1.955	0.09310	N	1	D;D;D;D;D	0.63880	0.98;0.993;0.977;0.98;0.98	P;P;P;P;P	0.59424	0.663;0.857;0.787;0.663;0.663	T	0.18461	-1.0336	10	0.87932	D	0	-9.3055	7.6307	0.28238	0.0:0.5722:0.0:0.4278	.	352;352;208;255;255	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	T	208;255;255;352;255;208;208	ENSP00000284694:R255T;ENSP00000398786:R255T;ENSP00000444369:R352T;ENSP00000405995:R255T;ENSP00000376459:R208T	ENSP00000284694:R255T	R	-	2	0	C10orf90	128182995	0.001000	0.12720	0.177000	0.23020	0.972000	0.66771	0.336000	0.19823	0.419000	0.25927	0.655000	0.94253	AGG	C10orf90-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000050969.2		-	ENST00000356858.3	Missense_Mutation	SNP	10 : 128193005 - 128193005 G PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	729	220
C14orf105	55195	broad.mit.edu	37	14	57938236	57938237	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:57938236_57938237insT	ENST00000422976.2	-	7	888_889	c.847_848insA	c.(847-849)atgfs	p.M283fs	C14orf105_ENST00000534126.1_Frame_Shift_Ins_p.M242fs|C14orf105_ENST00000216445.3_Frame_Shift_Ins_p.M243fs			Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	243										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CCATGTTTCCATTTTGCCAATT	0.396		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557	55195	55195			20189	protein-coding gene	gene with protein product					NA		Standard	NM_018168	XM_005267806	NA	Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000422976.2:c.848dupA	14.37:g.57938240_57938240dupT	ENSP00000392368:p.Met283fs	NA	Q53G04	37																																																																																				C14orf105-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400572.1		-	ENST00000422976.2	Frame_Shift_Ins	INS	14 : 57938236 - 57938237 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	101	76
C1R	715	broad.mit.edu	37	12	7241475	7241475	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:7241475C>T	ENST00000542285.1	-	6	1022	c.873G>A	c.(871-873)tcG>tcA	p.S291S				P00736	C1R_HUMAN	complement component 1, r subcomponent	292	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGCTGTCCCCCGACTCATCTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	21	20			NA	NA	12		NA											NA				7241475		1914	4113	6027	SO:0001819	synonymous_variant			M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	715	715	3.4.21.41	Complement system	1246	protein-coding gene	gene with protein product		613785			NA		Standard	NM_001733	NM_001733	NA	Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.873G>A	12.37:g.7241475C>T		NA	A6NJQ8|Q68D77|Q8J012	37																																																																																				C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			-	ENST00000542285.1	Silent	SNP	12 : 7241475 - 7241475 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	68	11
C6orf118	168090	broad.mit.edu	37	6	165715668	165715668	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:165715668A>G	ENST00000230301.8	-	2	163	c.143T>C	c.(142-144)cTt>cCt	p.L48P	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	48										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GTCTTTCTGAAGCCGATTCAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	93	90			NA	NA	6		NA											NA				165715668		2203	4300	6503	SO:0001583	missense				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539	168090	168090			21233	protein-coding gene	gene with protein product					NA		Standard	NM_144980	NM_144980	NA	Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.143T>C	6.37:g.165715668A>G	ENSP00000230301:p.Leu48Pro	NA	Q8TC11	37	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.050425	0.55218	.	.	ENSG00000112539	ENST00000230301	T	0.17691	2.26	5.31	5.31	0.75309	.	0.707524	0.13218	N	0.404618	T	0.28200	0.0696	L	0.59436	1.845	0.58432	D	0.999999	D	0.89917	1.0	D	0.72338	0.977	T	0.01657	-1.1302	10	0.87932	D	0	.	12.826	0.57721	1.0:0.0:0.0:0.0	.	48	Q5T5N4	CF118_HUMAN	P	48	ENSP00000230301:L48P	ENSP00000230301:L48P	L	-	2	0	C6orf118	165635658	0.188000	0.23250	0.000000	0.03702	0.002000	0.02628	4.774000	0.62339	2.012000	0.59069	0.533000	0.62120	CTT	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043026.1		-	ENST00000230301.8	Missense_Mutation	SNP	6 : 165715668 - 165715668 G PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	636	281
CARD6	84674	broad.mit.edu	37	5	40852928	40852928	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:40852928G>A	ENST00000381677.3	+	3	916				CARD6_ENST00000254691.5_Silent_p.R498R			Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	NA					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGCTTCCCCGGCAAATCTCTG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	70	70			NA	NA	5		NA											NA				40852928		2203	4300	6503	SO:0001627	intron_variant			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357	84674	84674			16394	protein-coding gene	gene with protein product		609986			NA	12775719	Standard		NM_032587	NA	Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000381677.3:c.842-7172G>A	5.37:g.40852928G>A		NA	Q52LR2	37																																																																																				CARD6-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367557.1		+	ENST00000381677.3	Intron	SNP	5 : 40852928 - 40852928 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	877	6
CARD9	64170	broad.mit.edu	37	9	139266428	139266428	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:139266428G>A	ENST00000371732.5	-	2	268	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	CARD9_ENST00000315908.7_Missense_Mutation_p.R35W|CARD9_ENST00000371734.3_Missense_Mutation_p.R35W	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	35	CARD.				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TTGCACTGCCGCAGGTAAGGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	126	136			NA	NA	9		NA											NA				139266428		2203	4300	6503	SO:0001583	missense			AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796	64170	64170			16391	protein-coding gene	gene with protein product		607212			NA	11053425	Standard	NM_052813	NM_052813	NA	Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.103C>T	9.37:g.139266428G>A	ENSP00000360797:p.Arg35Trp	NA	Q5SXM6|Q9H854	37	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766339	0.69878	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.24723	1.84;1.84;1.84	4.88	0.668	0.17912	DEATH-like (2);Caspase Recruitment (2);	0.000000	0.64402	D	0.000001	T	0.51278	0.1665	M	0.83384	2.64	0.47819	D	0.999526	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.57376	-0.7822	10	0.87932	D	0	-37.0311	13.7351	0.62813	0.0:0.0:0.4779:0.5221	.	35;35;35	Q9H257-2;Q5SXM5;Q9H257	.;.;CARD9_HUMAN	W	35	ENSP00000360799:R35W;ENSP00000360797:R35W;ENSP00000323719:R35W	ENSP00000323719:R35W	R	-	1	2	CARD9	138386249	0.553000	0.26513	0.960000	0.40013	0.840000	0.47671	0.760000	0.26475	-0.043000	0.13513	0.549000	0.68633	CGG	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055053.1		-	ENST00000371732.5	Missense_Mutation	SNP	9 : 139266428 - 139266428 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	726	10
CDC42BPG	55561	broad.mit.edu	37	11	64595249	64595249	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:64595249G>A	ENST00000342711.5	-	31	3973	c.3974C>T	c.(3973-3975)gCg>gTg	p.A1325V		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1325	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GTAGGGGGCCGCATACCCTGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	67	71			NA	NA	11		NA											NA				64595249		2201	4297	6498	SO:0001583	missense			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219	55561	55561		Pleckstrin homology (PH) domain containing	29829	protein-coding gene	gene with protein product		613991			NA	9341881, 15194684	Standard	XM_290516	NM_017525	NA	Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3974C>T	11.37:g.64595249G>A	ENSP00000345133:p.Ala1325Val	NA	O00565	37	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.620063	0.28801	.	.	ENSG00000171219	ENST00000342711	T	0.04758	3.56	4.8	4.8	0.61643	Citron-like (2);	0.355464	0.20396	N	0.093156	T	0.05777	0.0151	L	0.44542	1.39	0.24273	N	0.995235	P	0.41475	0.751	B	0.38106	0.265	T	0.41538	-0.9503	10	0.15952	T	0.53	.	15.7563	0.78030	0.0:0.0:1.0:0.0	.	1325	Q6DT37	MRCKG_HUMAN	V	1325	ENSP00000345133:A1325V	ENSP00000345133:A1325V	A	-	2	0	CDC42BPG	64351825	0.460000	0.25776	0.964000	0.40570	0.774000	0.43823	1.409000	0.34680	2.398000	0.81561	0.462000	0.41574	GCG	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000105352.4		-	ENST00000342711.5	Missense_Mutation	SNP	11 : 64595249 - 64595249 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	177	4
CDH23	64072	broad.mit.edu	37	10	73472564	73472564	+	Silent	SNP	C	C	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:73472564C>A	ENST00000224721.6	+	27	3383	c.3378C>A	c.(3376-3378)atC>atA	p.I1126I	C10orf105_ENST00000441508.2_3'UTR|C10orf105_ENST00000398786.2_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1121	Cadherin 11.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCACAGCATCTTGCAGGCAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	31	31			NA	NA	10		NA											NA				73472564		2042	4183	6225	SO:0001819	synonymous_variant			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736	64072	64072		Cadherins / Cadherin-related	13733	protein-coding gene	gene with protein product	cadherin-related family member 23	605516	cadherin related 23, cadherin-like 23	DFNB12, USH1D	NA	11090341	Standard	NM_052836	NM_022124	NA	Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.3378C>A	10.37:g.73472564C>A		NA	C4IXS9|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	37																																																																																				CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000051227.4		+	ENST00000224721.6	Silent	SNP	10 : 73472564 - 73472564 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	177	107
CELF4	56853	broad.mit.edu	37	18	34855150	34855150	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:34855150G>A	ENST00000591287.1	-	4	608	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	CELF4_ENST00000412753.1_Missense_Mutation_p.R169C|CELF4_ENST00000603232.1_Missense_Mutation_p.R169C|CELF4_ENST00000420428.2_Missense_Mutation_p.R169C|CELF4_ENST00000588597.1_Missense_Mutation_p.R158C|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000334919.5_Missense_Mutation_p.R159C|CELF4_ENST00000361795.5_Missense_Mutation_p.R168C|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000591282.1_Missense_Mutation_p.R169C|CELF4_ENST00000601019.1_Missense_Mutation_p.R168C			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	169	RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						AAAAGGCGGCGCACGTCGTCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	71	71			NA	NA	18		NA											NA				34855150		2203	4300	6503	SO:0001583	missense			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19			56853	56853		RNA binding motif (RRM) containing	14015	protein-coding gene	gene with protein product		612679	Bruno (Drosophila) -like 4, RNA binding protein, bruno-like 4, RNA binding protein (Drosophila)	BRUNOL4	NA	10893231	Standard	NM_020180	NM_020180	NA	Approved		uc002lae.2	Q9BZC1		ENST00000591287.1:c.502C>T	18.37:g.34855150G>A	ENSP00000464917:p.Arg168Cys	NA	Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	37		.	.	.	.	.	.	.	.	.	.	G	22.1	4.246354	0.80024	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919;ENST00000361683	T;T;T	0.19669	2.3;2.13;2.13	4.38	2.49	0.30216	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.115249	0.64402	D	0.000010	T	0.49270	0.1547	M	0.89414	3.03	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.957;0.999;0.995;0.936;0.986	T	0.54721	-0.8251	10	0.87932	D	0	-7.9084	10.8412	0.46718	0.0:0.1421:0.7101:0.1477	.	168;158;159;168;169	Q9BZC1-3;B4DHA8;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;CELF4_HUMAN	C	169;169;168;159;52	ENSP00000355089:R169C;ENSP00000406823:R169C;ENSP00000335631:R159C	ENSP00000335631:R159C	R	-	1	0	CELF4	33109148	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	6.432000	0.73400	0.533000	0.28675	-0.176000	0.13171	CGC	CELF4-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000440888.1		-	ENST00000591287.1	Missense_Mutation	SNP	18 : 34855150 - 34855150 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	918	6
CES3	23491	broad.mit.edu	37	16	66998264	66998264	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:66998264G>A	ENST00000303334.4	+	5	636	c.565G>A	c.(565-567)Gga>Aga	p.G189R	CES3_ENST00000394037.1_Missense_Mutation_p.G189R	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	189						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CCCCAGCACTGGAGATGAGCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	65	66			NA	NA	16		NA											NA				66998264		2200	4300	6500	SO:0001583	missense			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828	23491	23491		Carboxylesterases	1865	protein-coding gene	gene with protein product	esterase 31, brain carboxylesterase BR3	605279	carboxylesterase 3 (brain)		NA	10518925, 14581373, 15100172, 20931200	Standard	NM_024922	NM_001185176	NA	Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.565G>A	16.37:g.66998264G>A	ENSP00000304782:p.Gly189Arg	NA	B2Z3W9|Q7Z6J1	37	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374177	0.82573	.	.	ENSG00000172828	ENST00000303334;ENST00000394037	T;T	0.70749	-0.51;-0.51	3.94	3.94	0.45596	Carboxylesterase, type B (1);	0.000000	0.42172	D	0.000752	D	0.82398	0.5028	M	0.81179	2.53	0.80722	D	1	D	0.60575	0.988	P	0.61722	0.893	D	0.85959	0.1469	10	0.87932	D	0	.	15.0602	0.71947	0.0:0.0:1.0:0.0	.	189	Q6UWW8	EST3_HUMAN	R	189	ENSP00000304782:G189R;ENSP00000377602:G189R	ENSP00000304782:G189R	G	+	1	0	CES3	65555765	1.000000	0.71417	0.956000	0.39512	0.104000	0.19210	8.154000	0.89641	2.154000	0.67381	0.514000	0.50259	GGA	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268848.1		+	ENST00000303334.4	Missense_Mutation	SNP	16 : 66998264 - 66998264 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	264	153
CHD6	84181	broad.mit.edu	37	20	40049687	40049687	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:40049687T>C	ENST00000373233.3	-	31	5765	c.5588A>G	c.(5587-5589)cAc>cGc	p.H1863R		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1863					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ctcatcACTGTGGTTCTGACT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	91	90			NA	NA	20		NA											NA				40049687		2203	4300	6503	SO:0001583	missense			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177	NA	84181			19057	protein-coding gene	gene with protein product					NA	11889561	Standard		NM_032221	NA	Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5588A>G	20.37:g.40049687T>C	ENSP00000362330:p.His1863Arg	NA	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.800657	0.31869	.	.	ENSG00000124177	ENST00000373233	D	0.85861	-2.04	5.47	3.09	0.35607	.	0.342208	0.25132	N	0.032892	T	0.73102	0.3544	L	0.27053	0.805	0.80722	D	1	B	0.20671	0.047	B	0.14023	0.01	T	0.66551	-0.5895	10	0.45353	T	0.12	-8.9998	6.7029	0.23234	0.0:0.0779:0.1533:0.7688	.	1863	Q8TD26	CHD6_HUMAN	R	1863	ENSP00000362330:H1863R	ENSP00000362330:H1863R	H	-	2	0	CHD6	39483101	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.274000	0.43390	0.924000	0.37069	0.533000	0.62120	CAC	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079270.1		-	ENST00000373233.3	Missense_Mutation	SNP	20 : 40049687 - 40049687 C PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	436	197
CNTROB	116840	broad.mit.edu	37	17	7842903	7842903	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:7842903C>T	ENST00000380262.3	+	8	1925	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	CNTROB_ENST00000380255.3_Missense_Mutation_p.R334W|CNTROB_ENST00000565740.1_Missense_Mutation_p.R334W|CNTROB_ENST00000563694.1_Missense_Mutation_p.R334W	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	334					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCAGGAAGAGCGGGATGCAGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	77	79			NA	NA	17		NA											NA				7842903		2203	4300	6503	SO:0001583	missense			AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037	116840	116840			29616	protein-coding gene	gene with protein product	centrobin	611425			NA	11984006, 16275750	Standard	NM_053051	NM_001037144	NA	Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000380262.3:c.1000C>T	17.37:g.7842903C>T	ENSP00000369614:p.Arg334Trp	NA	A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	37	CCDS32557.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277488	0.59758	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.65732	-0.17;0.72	5.26	5.26	0.73747	.	0.141093	0.32952	N	0.005452	T	0.61800	0.2376	L	0.29908	0.895	0.39509	D	0.968331	D;B;B;D	0.76494	0.999;0.124;0.124;0.998	P;B;B;P	0.56916	0.809;0.027;0.027;0.809	T	0.65882	-0.6060	10	0.62326	D	0.03	-11.6849	9.9811	0.41813	0.0:0.9069:0.0:0.0931	.	334;334;334;334	Q8N137-4;Q8N137-3;Q8N137;Q8N137-2	.;.;CNTRB_HUMAN;.	W	334	ENSP00000369614:R334W;ENSP00000369605:R334W	ENSP00000369605:R334W	R	+	1	2	CNTROB	7783628	0.992000	0.36948	0.998000	0.56505	0.192000	0.23643	2.031000	0.41117	2.475000	0.83589	0.313000	0.20887	CGG	CNTROB-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421371.1		+	ENST00000380262.3	Missense_Mutation	SNP	17 : 7842903 - 7842903 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	699	6
COG2	22796	broad.mit.edu	37	1	230805103	230805103	+	Splice_Site	SNP	G	G	A	rs147719039		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:230805103G>A	ENST00000534989.1	+	7	754	c.419G>A	c.(418-420)cGt>cAt	p.R140H	COG2_ENST00000366669.4_Splice_Site_p.R199H|COG2_ENST00000535166.1_Splice_Site_p.R83H|COG2_ENST00000366668.3_Splice_Site_p.R199H			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	199					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	p.R199H(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTCTTGCAGCGTATAGCTGGC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)						G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	109	107	107		596,596	5.5	1	1	dbSNP_134	107	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice	COG2	NM_001145036.1,NM_007357.2	29,29	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	199/738,199/739	230805103	1,13005	2203	4300	6503	SO:0001630	splice_region_variant			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775	22796	22796		Components of oligomeric golgi complex	6546	protein-coding gene	gene with protein product		606974	low density lipoprotein receptor defect C complementing	LDLC	NA	7962052	Standard	NM_007357	NM_007357	NA	Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000534989.1:c.418-1G>A	1.37:g.230805103G>A		NA		37		.	.	.	.	.	.	.	.	.	.	G	33	5.222944	0.95139	2.27E-4	0.0	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.61874	0.2382	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.66991	-0.5783	10	0.87932	D	0	-13.1793	19.2959	0.94122	0.0:0.0:1.0:0.0	.	199;199	Q86U99;Q14746	.;COG2_HUMAN	H	199;83;199;140	ENSP00000355629:R199H;ENSP00000445724:R83H;ENSP00000355628:R199H;ENSP00000440349:R140H	ENSP00000355628:R199H	R	+	2	0	COG2	228871726	1.000000	0.71417	0.987000	0.45799	0.862000	0.49288	9.579000	0.98204	2.564000	0.86499	0.655000	0.94253	CGT	COG2-010	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000472446.1	Missense_Mutation	+	ENST00000534989.1	Splice_Site	SNP	1 : 230805103 - 230805103 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	864	6
COL12A1	1303	broad.mit.edu	37	6	75884785	75884785	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:75884785G>A	ENST00000322507.8	-	13	2988	c.2679C>T	c.(2677-2679)gaC>gaT	p.D893D	COL12A1_ENST00000483888.2_Silent_p.D893D|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.D893D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	893	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAAAGAGGGCGTCTCCAGCCC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	186	187			NA	NA	6		NA											NA				75884785		1983	4159	6142	SO:0001819	synonymous_variant			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799	1303	1303		Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens, Fibronectin type III domain containing	2188	protein-coding gene	gene with protein product	collagen type XII proteoglycan	120320	collagen, type XII, alpha 1-like	COL12A1L	NA	9143499	Standard	NM_004370	XM_006715334	NA	Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2679C>T	6.37:g.75884785G>A		NA	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	37	CCDS43482.1																																																																																			COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041249.3		-	ENST00000322507.8	Silent	SNP	6 : 75884785 - 75884785 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	924	70
COL1A2	1278	broad.mit.edu	37	7	94042405	94042405	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:94042405G>A	ENST00000297268.6	+	26	1985	c.1514G>A	c.(1513-1515)gGc>gAc	p.G505D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	505					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTGATCCTGGCAAAAACGGT	0.398		NA								HNSCC(75;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													278	248	258			NA	NA	7		NA											NA				94042405		2203	4300	6503	SO:0001583	missense			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692	1278	1278		Collagens	2198	protein-coding gene	gene with protein product	alpha 2(I)-collagen, alpha-2 collagen type I, type I procollagen, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain	120160	osteogenesis imperfecta type IV	OI4	NA	3857213, 2897363	Standard	NM_000089	NM_000089	NA	Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1514G>A	7.37:g.94042405G>A	ENSP00000297268:p.Gly505Asp	NA	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743563	0.69418	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99619	-6.28	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96962	0.9702	10	0.87932	D	0	.	20.2246	0.98337	0.0:0.0:1.0:0.0	.	505	P08123	CO1A2_HUMAN	D	505;506	ENSP00000297268:G505D	ENSP00000297268:G505D	G	+	2	0	COL1A2	93880341	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	9.817000	0.99352	2.861000	0.98227	0.655000	0.94253	GGC	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309045.2		+	ENST00000297268.6	Missense_Mutation	SNP	7 : 94042405 - 94042405 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	891	6
COL6A6	131873	broad.mit.edu	37	3	130293015	130293015	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:130293015T>A	ENST00000358511.6	+	7	3224	c.3193T>A	c.(3193-3195)Ttt>Att	p.F1065I	COL6A6_ENST00000453409.2_Missense_Mutation_p.F1065I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1065	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGAGATATCATTTCAGATTGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	72	72			NA	NA	3		NA											NA				130293015		1916	4138	6054	SO:0001583	missense			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384	131873	131873		Collagens	27023	protein-coding gene	gene with protein product					NA		Standard	NM_001102608	NM_001102608	NA	Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3193T>A	3.37:g.130293015T>A	ENSP00000351310:p.Phe1065Ile	NA	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	T	0.922	-0.715405	0.03206	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.77750	-1.12;-1.12	5.15	-10.3	0.00346	von Willebrand factor, type A (3);	1.854400	0.02610	N	0.102058	T	0.62183	0.2407	L	0.32530	0.975	0.09310	N	1	B	0.18741	0.03	B	0.18871	0.023	T	0.52909	-0.8512	10	0.39692	T	0.17	.	5.7758	0.18279	0.2968:0.4686:0.0603:0.1743	.	1065	A6NMZ7	CO6A6_HUMAN	I	1065	ENSP00000351310:F1065I;ENSP00000399236:F1065I	ENSP00000351310:F1065I	F	+	1	0	COL6A6	131775705	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-3.371000	0.00494	-4.171000	0.00068	-3.121000	0.00061	TTT	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356705.5		+	ENST00000358511.6	Missense_Mutation	SNP	3 : 130293015 - 130293015 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	363	160
COLEC10	10584	broad.mit.edu	37	8	120118316	120118316	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:120118316C>T	ENST00000332843.2	+	6	761	c.720C>T	c.(718-720)agC>agT	p.S240S		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	240	C-type lectin.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGGAACCCAGCGACCCCTATG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	88	89			NA	NA	8		NA											NA				120118316		2203	4300	6503	SO:0001819	synonymous_variant			AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374	10584	10584		Collectins	2220	protein-coding gene	gene with protein product		607620			NA	10224141	Standard		NM_006438	NA	Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.720C>T	8.37:g.120118316C>T		NA	Q3SYH6|Q6UW19	37	CCDS6327.1																																																																																			COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381225.1		+	ENST00000332843.2	Silent	SNP	8 : 120118316 - 120118316 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	414	172
CPA6	57094	broad.mit.edu	37	8	68423884	68423884	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:68423884G>A	ENST00000297770.4	-	4	539	c.324C>T	c.(322-324)ctC>ctT	p.L108L	CPA6_ENST00000518549.1_Silent_p.L108L|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	108					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.L108L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GATCTTCTATGAGGACCCTGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											140	143	142			NA	NA	8		NA											NA				68423884		2203	4300	6503	SO:0001819	synonymous_variant			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078	57094	57094			17245	protein-coding gene	gene with protein product		609562			NA	11836249	Standard	NM_020361	NM_020361	NA	Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.324C>T	8.37:g.68423884G>A		NA	Q8NEX8|Q8TDE8|Q9NRI9	37	CCDS6200.1																																																																																			CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379296.2		-	ENST00000297770.4	Silent	SNP	8 : 68423884 - 68423884 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	847	357
CTC1	80169	broad.mit.edu	37	17	8135782	8135782	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:8135782G>A	ENST00000315684.8	-	12	1964	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	653					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CTCTCTGCCCGCACCAGGCAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	1,3823		0,1,1911	100	101	100		1957	2.9	1	17		100	0,8268		0,0,4134	yes	missense	CTC1	NM_025099.5	101	0,1,6045	AA,AG,GG	NA	0.0,0.0262,0.0083	probably-damaging	653/1218	8135782	1,12091	1912	4134	6046	SO:0001583	missense			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971	80169	80169			26169	protein-coding gene	gene with protein product	conserved telomere maintenance component 1, alpha accessory factor 132, conserved telomere capping protein 1	613129	tmp494178, chromosome 17 open reading frame 68	C17orf68	NA	19854130, 19854131	Standard	NM_025099	NM_025099	NA	Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1957C>T	17.37:g.8135782G>A	ENSP00000313759:p.Arg653Trp	NA	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	37	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	G	8.701	0.909645	0.17833	2.62E-4	0.0	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.84370	-1.84;-1.84	4.87	2.86	0.33363	.	0.447163	0.22531	N	0.058857	D	0.90490	0.7021	M	0.68317	2.08	0.33598	D	0.601972	D	0.89917	1.0	D	0.91635	0.999	D	0.92332	0.5874	10	0.72032	D	0.01	-25.5812	12.7044	0.57051	0.0:0.0:0.7046:0.2954	.	653	Q2NKJ3	CTC1_HUMAN	W	653;618	ENSP00000313759:R653W;ENSP00000396018:R618W	ENSP00000313759:R653W	R	-	1	2	CTC1	8076507	0.014000	0.17966	0.955000	0.39395	0.173000	0.22820	0.832000	0.27490	0.351000	0.24027	-0.808000	0.03180	CGG	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442012.1		-	ENST00000315684.8	Missense_Mutation	SNP	17 : 8135782 - 8135782 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	747	7
CTNNB1	1499	broad.mit.edu	37	3	41277224	41277224	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:41277224C>T	ENST00000349496.5	+	11	1973	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	CTNNB1_ENST00000396183.3_Missense_Mutation_p.R565C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R565C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R558C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R565C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	565					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGAGGGGGTCCGCATGGAAGA	0.403		15	H, Mis, T	PLAG1	colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma				Pilomatrixoma, Familial Clustering of					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	catenin (cadherin-associated protein), beta 1		E, M, O	0													103	106	105			NA	NA	3		NA											NA				41277224		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036	1499	1499		Armadillo repeat containing	2514	protein-coding gene	gene with protein product		116806	catenin (cadherin-associated protein), beta 1 (88kD)	CTNNB	NA	7829088	Standard	NM_001098210	NM_001098210	NA	Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1693C>T	3.37:g.41277224C>T	ENSP00000344456:p.Arg565Cys	NA	A8K1L7|Q8NEW9|Q8NI94|Q9H391	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188262	0.94923	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83326	0.5230	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	0.998;1.0	P;P	0.61328	0.817;0.887	D	0.87162	0.2215	10	0.87932	D	0	-16.2508	19.661	0.95871	0.0:1.0:0.0:0.0	.	493;565	B4DSW9;P35222	.;CTNB1_HUMAN	C	565;565;565;558;565	ENSP00000385604:R565C;ENSP00000379486:R565C;ENSP00000344456:R565C;ENSP00000411226:R558C;ENSP00000379488:R565C	ENSP00000344456:R565C	R	+	1	0	CTNNB1	41252228	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.771000	0.85420	2.659000	0.90383	0.655000	0.94253	CGC	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254182.2		+	ENST00000349496.5	Missense_Mutation	SNP	3 : 41277224 - 41277224 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	632	8
CYP27A1	1593	broad.mit.edu	37	2	219674321	219674321	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:219674321G>A	ENST00000258415.4	+	2	704	c.277G>A	c.(277-279)Ggt>Agt	p.G93S		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	93					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	GGCCAAGTACGGTCCAATGTG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	119	122			NA	NA	2		NA											NA				219674321		2203	4300	6503	SO:0001583	missense			BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929	1593	1593		Cytochrome P450s	2605	protein-coding gene	gene with protein product	cerebrotendinous xanthomatosis	606530	cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1	CYP27	NA	2019602	Standard		NM_000784	NA	Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.277G>A	2.37:g.219674321G>A	ENSP00000258415:p.Gly93Ser	NA	A8K303|Q6LDB4|Q86YQ6	37	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957299	0.92726	.	.	ENSG00000135929	ENST00000258415	T	0.78003	-1.14	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.90342	0.6978	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91625	0.5314	10	0.87932	D	0	-18.4401	18.7612	0.91851	0.0:0.0:1.0:0.0	.	93	Q02318	CP27A_HUMAN	S	93	ENSP00000258415:G93S	ENSP00000258415:G93S	G	+	1	0	CYP27A1	219382565	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	9.765000	0.98953	2.677000	0.91161	0.655000	0.94253	GGT	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109734.4		+	ENST00000258415.4	Missense_Mutation	SNP	2 : 219674321 - 219674321 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	540	27
CYP27B1	1594	broad.mit.edu	37	12	58158695	58158695	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:58158695C>G	ENST00000228606.4	-	5	1014	c.805G>C	c.(805-807)Gag>Cag	p.E269Q		NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	269					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	TCTCGCCGCTCCACGTGCCTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	71	72			NA	NA	12		NA											NA				58158695		2203	4300	6503	SO:0001583	missense			AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012	1594	1594		Cytochrome P450s	2606	protein-coding gene	gene with protein product	VDDR I, 1alpha(OH)ase, 25-Hydroxyvitamin D3 1alpha-hydroxylase	609506	cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1	VDD1, PDDR	NA	9295274, 9344864	Standard	NM_000785	NM_000785	NA	Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.805G>C	12.37:g.58158695C>G	ENSP00000228606:p.Glu269Gln	NA		37	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335080	0.60853	.	.	ENSG00000111012	ENST00000228606;ENST00000546567	T;T	0.70399	-0.48;-0.48	4.65	3.76	0.43208	.	0.052937	0.64402	D	0.000001	T	0.56819	0.2011	N	0.04959	-0.14	0.42532	D	0.993044	B	0.29188	0.236	P	0.45276	0.475	T	0.51116	-0.8746	10	0.17369	T	0.5	.	10.0556	0.42244	0.0:0.9043:0.0:0.0957	.	269	O15528	CP27B_HUMAN	Q	269;34	ENSP00000228606:E269Q;ENSP00000449472:E34Q	ENSP00000228606:E269Q	E	-	1	0	CYP27B1	56444962	1.000000	0.71417	0.993000	0.49108	0.494000	0.33585	6.260000	0.72502	1.188000	0.43014	0.561000	0.74099	GAG	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409248.1		-	ENST00000228606.4	Missense_Mutation	SNP	12 : 58158695 - 58158695 G PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	294	243
CYP2F1	1572	broad.mit.edu	37	19	41622456	41622456	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:41622456G>T	ENST00000331105.2	+	3	340	c.268G>T	c.(268-270)Gac>Tac	p.D90Y		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	90					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GGCCCTGGTGGACCAGGGAGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	101	102			NA	NA	19		NA											NA				41622456		2203	4300	6503	SO:0001583	missense			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446	1572	1572		Cytochrome P450s	2632	protein-coding gene	gene with protein product		124070	cytochrome P450, subfamily IIF, polypeptide 1	CYP2F	NA		Standard		NM_000774	NA	Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.268G>T	19.37:g.41622456G>T	ENSP00000333534:p.Asp90Tyr	NA	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q8WWJ2	37	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455851	0.43634	.	.	ENSG00000197446	ENST00000331105	T	0.69926	-0.44	3.91	1.68	0.24146	.	0.188299	0.45361	N	0.000375	T	0.80031	0.4549	M	0.87456	2.885	0.34718	D	0.728485	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.82464	-0.0444	10	0.87932	D	0	.	7.1129	0.25401	0.0957:0.0:0.734:0.1703	.	90;90	Q32MN5;P24903	.;CP2F1_HUMAN	Y	90	ENSP00000333534:D90Y	ENSP00000333534:D90Y	D	+	1	0	CYP2F1	46314296	0.972000	0.33761	0.753000	0.31225	0.591000	0.36615	1.610000	0.36869	0.298000	0.22638	0.544000	0.68410	GAC	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394527.2		+	ENST00000331105.2	Missense_Mutation	SNP	19 : 41622456 - 41622456 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	520	37
DAP3	7818	broad.mit.edu	37	1	155686900	155686900	+	Missense_Mutation	SNP	G	G	A	rs149919712		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:155686900G>A	ENST00000368336.5	+	3	273	c.149G>A	c.(148-150)cGc>cAc	p.R50H	MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000343043.3_Missense_Mutation_p.R50H|DAP3_ENST00000496863.1_3'UTR|DAP3_ENST00000421487.2_Missense_Mutation_p.R50H|DAP3_ENST00000471642.2_Intron|DAP3_ENST00000465375.1_Missense_Mutation_p.R50H|DAP3_ENST00000535183.1_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	50					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GCTATTTCCCGCACCAATGAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG,,HIS/ARG,HIS/ARG	0,4406		0,0,2203	95	96	96		149,149,,149,149	4.3	1	1	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,missense,missense	DAP3	NM_001199849.1,NM_001199850.1,NM_001199851.1,NM_004632.3,NM_033657.2	29,29,,29,29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign,benign,,benign,benign	50/399,50/365,,50/399,50/399	155686900	1,13005	2203	4300	6503	SO:0001583	missense			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676	7818	7818		Mitochondrial ribosomal proteins / small subunits	2673	protein-coding gene	gene with protein product	mitochondrial 28S ribosomal protein S29	602074			NA	7499268, 9284927	Standard	NM_004632	NM_004632	NA	Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.149G>A	1.37:g.155686900G>A	ENSP00000357320:p.Arg50His	NA	Q13044|Q68CT7|Q96Q20	37	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	g	13.92	2.380775	0.42207	0.0	1.16E-4	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487	T;T;T	0.51574	0.7;0.7;0.73	5.2	4.27	0.50696	.	0.376195	0.29389	N	0.012299	T	0.28466	0.0704	M	0.67397	2.05	0.49389	D	0.999788	B;B;B	0.33883	0.111;0.111;0.43	B;B;B	0.21917	0.008;0.008;0.037	T	0.37753	-0.9692	10	0.62326	D	0.03	-1.3092	10.2787	0.43526	0.1459:0.0:0.8541:0.0	.	50;50;50	B4DY62;E7EM60;P51398	.;.;RT29_HUMAN	H	50	ENSP00000357320:R50H;ENSP00000341692:R50H;ENSP00000412605:R50H	ENSP00000341692:R50H	R	+	2	0	DAP3	153953524	0.564000	0.26602	0.971000	0.41717	0.650000	0.38633	2.796000	0.47869	2.698000	0.92095	0.591000	0.81541	CGC	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086042.1		+	ENST00000368336.5	Missense_Mutation	SNP	1 : 155686900 - 155686900 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1101	8
DCLK2	166614	broad.mit.edu	37	4	151023709	151023709	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:151023709G>A	ENST00000296550.7	+	2	1255	c.501G>A	c.(499-501)gtG>gtA	p.V167V	DCLK2_ENST00000506325.1_Silent_p.V167V|DCLK2_ENST00000302176.8_Silent_p.V167V	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	167					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ACTGGTCTGTGAACATCAAGG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(195;186 2215 13375 16801 37459)							NA				0													60	63	62			NA	NA	4		NA											NA				151023709		2203	4300	6503	SO:0001819	synonymous_variant			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390	166614	166614			19002	protein-coding gene	gene with protein product		613166	doublecortin and CaM kinase-like 2	DCAMKL2	NA	12477932	Standard	NM_001040260	NM_001040260	NA	Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.501G>A	4.37:g.151023709G>A		NA	C9J5Q9|Q59GC8|Q8N399	37	CCDS34076.1																																																																																			DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364952.1		+	ENST00000296550.7	Silent	SNP	4 : 151023709 - 151023709 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	227	27
DENND4B	9909	broad.mit.edu	37	1	153905124	153905124	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:153905124G>T	ENST00000361217.4	-	23	4171	c.3753C>A	c.(3751-3753)caC>caA	p.H1251Q	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1251										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTACCCCCATGTGCCCGTTGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	50	48			NA	NA	1		NA											NA				153905124		2002	4167	6169	SO:0001583	missense			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837	9909	9909		DENN/MADD domain containing	29044	protein-coding gene	gene with protein product			KIAA0476	KIAA0476	NA	9455484, 12906859	Standard	XM_375806	NM_014856	NA	Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3753C>A	1.37:g.153905124G>T	ENSP00000354597:p.His1251Gln	NA	Q5T4K0	37	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	1.146	-0.648022	0.03506	.	.	ENSG00000198837	ENST00000361217	T	0.06142	3.34	5.31	0.252	0.15545	.	0.526818	0.20690	N	0.087470	T	0.00754	0.0025	N	0.03608	-0.345	0.20821	N	0.999842	B	0.19817	0.039	B	0.14023	0.01	T	0.46247	-0.9205	10	0.27082	T	0.32	-26.6206	7.4632	0.27306	0.4697:0.0:0.5303:0.0	.	1251	O75064	DEN4B_HUMAN	Q	1251	ENSP00000354597:H1251Q	ENSP00000354597:H1251Q	H	-	3	2	DENND4B	152171748	0.914000	0.31030	0.062000	0.19696	0.334000	0.28698	1.260000	0.32968	-0.097000	0.12307	-0.252000	0.11476	CAC	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090278.2		-	ENST00000361217.4	Missense_Mutation	SNP	1 : 153905124 - 153905124 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	493	10
DGKB	1607	broad.mit.edu	37	7	14661065	14661065	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:14661065C>T	ENST00000403951.2	-	15	1644	c.1225G>A	c.(1225-1227)Gtg>Atg	p.V409M	DGKB_ENST00000258767.5_Missense_Mutation_p.V409M|DGKB_ENST00000402815.1_Missense_Mutation_p.V408M|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.V409M|DGKB_ENST00000407950.1_Missense_Mutation_p.V401M|DGKB_ENST00000444700.2_Missense_Mutation_p.V390M|DGKB_ENST00000406247.3_Missense_Mutation_p.V409M			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	409					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTGTCAATCACTTTGTTTGGC	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	118	123			NA	NA	7		NA											NA				14661065		1832	4081	5913	SO:0001583	missense			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	1607	1607	2.7.1.107	EF-hand domain containing	2850	protein-coding gene	gene with protein product		604070	diacylglycerol kinase, beta (90kD)	DAGK2	NA	7689223	Standard	NM_004080	NM_004080	NA	Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1225G>A	7.37:g.14661065C>T	ENSP00000385780:p.Val409Met	NA	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303842	0.23736	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.79940	-1.22;-1.22;-1.22;-1.23;-1.23;-1.21;-1.32	4.86	2.91	0.33838	.	1.575650	0.03746	N	0.255779	T	0.71584	0.3357	N	0.22421	0.69	0.23893	N	0.996546	B;B;B;B	0.24651	0.033;0.035;0.069;0.108	B;B;B;B	0.28916	0.029;0.096;0.022;0.029	T	0.58446	-0.7635	10	0.31617	T	0.26	.	7.5278	0.27666	0.2534:0.4877:0.259:0.0	.	408;390;409;409	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	M	409;409;409;408;401;390;409	ENSP00000385780:V409M;ENSP00000382260:V409M;ENSP00000258767:V409M;ENSP00000384909:V408M;ENSP00000385031:V401M;ENSP00000388451:V390M;ENSP00000386066:V409M	ENSP00000258767:V409M	V	-	1	0	DGKB	14627590	0.027000	0.19231	0.999000	0.59377	0.704000	0.40688	0.425000	0.21346	1.179000	0.42884	-0.678000	0.03780	GTG	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326356.2		-	ENST00000403951.2	Missense_Mutation	SNP	7 : 14661065 - 14661065 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	216	24
DPEP2	64174	broad.mit.edu	37	16	68024785	68024785	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:68024785G>A	ENST00000572888.1	-	6	1498	c.848C>T	c.(847-849)tCg>tTg	p.S283L	DPEP2_ENST00000412757.2_Missense_Mutation_p.S283L|DPEP2_ENST00000393847.1_Missense_Mutation_p.S283L			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	283					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CCGGGCAGCCGAGTGGGAGAA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	118	118			NA	NA	16		NA											NA				68024785		2198	4300	6498	SO:0001583	missense			AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	64174	64174	3.4.13.19		23028	protein-coding gene	gene with protein product		609925			NA		Standard	NM_022355	NM_022355	NA	Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.848C>T	16.37:g.68024785G>A	ENSP00000458977:p.Ser283Leu	NA	B2RCF8|Q6UX92|Q8TC95	37	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	G	35	5.509483	0.96386	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384	T;T	0.39997	1.05;1.05	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.75649	0.3878	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.83339	-0.0009	10	0.87932	D	0	-10.9443	16.3962	0.83605	0.0:0.0:1.0:0.0	.	283;196	Q9H4A9;Q9H4A9-2	DPEP2_HUMAN;.	L	283;283;196	ENSP00000377430:S283L;ENSP00000412549:S283L	ENSP00000314702:S196L	S	-	2	0	DPEP2	66582286	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	8.928000	0.92853	2.822000	0.97130	0.650000	0.86243	TCG	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437026.1		-	ENST00000572888.1	Missense_Mutation	SNP	16 : 68024785 - 68024785 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	802	63
DSG2	1829	broad.mit.edu	37	18	29126100	29126100	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:29126100G>A	ENST00000261590.8	+	15	2960	c.2751G>A	c.(2749-2751)gcG>gcA	p.A917A	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	917					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTAGGCAGGCGCAAAAGGTAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	81	82			NA	NA	18		NA											NA				29126100		1940	4131	6071	SO:0001819	synonymous_variant			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604	1829	1829		Cadherins / Major cadherins	3049	protein-coding gene	gene with protein product		125671			NA	1612610	Standard	NM_001943	NM_001943	NA	Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2751G>A	18.37:g.29126100G>A		NA	Q4KKU6	37	CCDS42423.1																																																																																			DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447506.1		+	ENST00000261590.8	Silent	SNP	18 : 29126100 - 29126100 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	967	6
DST	667	broad.mit.edu	37	6	56472575	56472575	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:56472575C>T	ENST00000361203.3	-	36	6225	c.6218G>A	c.(6217-6219)tGt>tAt	p.C2073Y	DST_ENST00000446842.2_Missense_Mutation_p.C1747Y|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.C2251Y|DST_ENST00000312431.6_Missense_Mutation_p.C2073Y|DST_ENST00000370769.4_Missense_Mutation_p.C2073Y|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	2073					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGTTCTCCACAGTGACATTT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	106	105			NA	NA	6		NA											NA				56472575		1868	4111	5979	SO:0001583	missense			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.6218G>A	6.37:g.56472575C>T	ENSP00000354508:p.Cys2073Tyr	NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37		.	.	.	.	.	.	.	.	.	.	C	0.067	-1.209747	0.01555	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.80738	0.07;0.07;1.02;-1.41;0.04;-0.19	5.59	-2.76	0.05896	.	1.653060	0.03229	N	0.178654	T	0.27731	0.0682	.	.	.	0.25284	N	0.98942	B	0.02656	0.0	B	0.06405	0.002	T	0.39251	-0.9623	8	0.02654	T	1	.	5.2208	0.15368	0.2727:0.1757:0.0:0.5516	.	1747	Q03001-9	.	Y	2251;2073;1747;2073;2073;1747	ENSP00000359790:C2251Y;ENSP00000359805:C2073Y;ENSP00000393645:C1747Y;ENSP00000307959:C2073Y;ENSP00000354508:C2073Y;ENSP00000404924:C1747Y	ENSP00000307959:C2073Y	C	-	2	0	DST	56580534	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.874000	0.04210	-0.181000	0.10619	0.563000	0.77884	TGT	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000041021.3		-	ENST00000361203.3	Missense_Mutation	SNP	6 : 56472575 - 56472575 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	503	211
ECM1	1893	broad.mit.edu	37	1	150484272	150484272	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:150484272C>T	ENST00000369047.4	+	7	1173	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.R377C|ECM1_ENST00000346569.6_Intron	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	350	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCGCTGCTGCCGCCAGGGGAA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(156;1696 2560 11093 19685)							NA				0													45	45	45			NA	NA	1		NA											NA				150484272		2203	4300	6503	SO:0001583	missense			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369	1893	1893			3153	protein-coding gene	gene with protein product		602201			NA	9367673, 9501329	Standard	NM_004425	NM_004425	NA	Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1048C>T	1.37:g.150484272C>T	ENSP00000358043:p.Arg350Cys	NA	A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	37	CCDS953.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856028	0.71834	.	.	ENSG00000143369	ENST00000369049;ENST00000369047	T;T	0.80214	-1.35;-1.35	4.19	4.19	0.49359	.	0.234553	0.32640	N	0.005821	D	0.83505	0.5269	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	P;D;D	0.70716	0.862;0.97;0.91	D	0.85406	0.1134	10	0.87932	D	0	-15.5817	12.1957	0.54296	0.0:1.0:0.0:0.0	.	377;350;350	Q16610-4;C8CHS3;Q16610	.;.;ECM1_HUMAN	C	377;350	ENSP00000358045:R377C;ENSP00000358043:R350C	ENSP00000358043:R350C	R	+	1	0	ECM1	148750896	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	2.256000	0.43231	2.331000	0.79229	0.555000	0.69702	CGC	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000035832.2		+	ENST00000369047.4	Missense_Mutation	SNP	1 : 150484272 - 150484272 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	588	67
EGLN3	112399	broad.mit.edu	37	14	34419830	34419830	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:34419830G>A	ENST00000553215.1	-	1	149				EGLN3_ENST00000250457.3_Silent_p.V43V|EGLN3_ENST00000547327.2_Silent_p.V43V			Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	NA					apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	CGCGCTCCAGGACGCAGTCGC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(161;245 1904 13895 22565 30076)							NA				0													39	45	43			NA	NA	14		NA											NA				34419830		2202	4298	6500	SO:0001627	intron_variant			AJ310545	CCDS9646.1	14q12	2013-08-21	2013-08-21		ENSG00000129521	ENSG00000129521	112399	112399			14661	protein-coding gene	gene with protein product	HIF prolyl hydroxylase 3	606426	EGL nine (C.elegans) homolog 3, egl nine homolog 3 (C. elegans)		NA		Standard		NM_022073	NA	Approved	PHD3, HIFPH3	uc001wsa.4	Q9H6Z9	OTTHUMG00000029498	ENST00000553215.1:c.75+53C>T	14.37:g.34419830G>A		NA	Q2TA79|Q3B8N4|Q6P1R2	37																																																																																				EGLN3-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000409485.1		-	ENST00000553215.1	Intron	SNP	14 : 34419830 - 34419830 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	145	25
EHF	26298	broad.mit.edu	37	11	34668171	34668172	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:34668171_34668172insG	ENST00000533754.1	+	3	500_501	c.283_284insG	c.(283-285)cggfs	p.R95fs	EHF_ENST00000450654.2_Frame_Shift_Ins_p.R95fs|EHF_ENST00000527935.1_Frame_Shift_Ins_p.R95fs|EHF_ENST00000257831.3_Frame_Shift_Ins_p.R95fs|EHF_ENST00000531728.1_Frame_Shift_Ins_p.R95fs|EHF_ENST00000531794.1_Frame_Shift_Ins_p.R117fs|EHF_ENST00000530286.1_Frame_Shift_Ins_p.R95fs			Q9NZC4	EHF_HUMAN	ets homologous factor	95	PNT.				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GGAGTTCACCCGGGCGGCAGGG	0.574		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373	26298	26298			3246	protein-coding gene	gene with protein product	epithelium-specific ets factor 3, ESE3 transcription factor	605439			NA	10527851	Standard	NM_012153	NM_012153	NA	Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.286dupG	11.37:g.34668174_34668174dupG	ENSP00000435837:p.Arg95fs	NA	D3DR08|D3DR10|Q9H509|Q9UKF9|Q9Y5V4|Q9Y5V5	37	CCDS7894.1																																																																																			EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389855.1		+	ENST00000533754.1	Frame_Shift_Ins	INS	11 : 34668171 - 34668172 G PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	929	501
F9	2158	broad.mit.edu	37	X	138643810	138643810	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chrX:138643810C>T	ENST00000218099.2	+	8	973	c.966C>T	c.(964-966)gaC>gaT	p.D322D	F9_ENST00000394090.2_Silent_p.D284D	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	322	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TGGAACTGGACGAACCCTTAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,3835		0,0,0,1632,571	214	181	192		966	-6.8	0	X		192	1,6727		0,0,1,2428,1871	no	coding-synonymous	F9	NM_000133.3		0,0,1,4060,2442	TT,TC,T,CC,C	NA	0.0149,0.0,0.0095		322/462	138643810	1,10562	2203	4300	6503	SO:0001819	synonymous_variant			M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	2158	2158	3.4.21.22		3551	protein-coding gene	gene with protein product	Factor IX, plasma thromboplastic component, Christmas disease, hemophilia B	300746			NA		Standard		NM_000133	NA	Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.966C>T	X.37:g.138643810C>T		NA	A8K9N4|Q5JYJ8	37	CCDS14666.1																																																																																			F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058557.1		+	ENST00000218099.2	Silent	SNP	X : 138643810 - 138643810 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	38	330
FAM131B	9715	broad.mit.edu	37	7	143053772	143053772	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:143053772G>A	ENST00000409408.1	-	6	2578	c.870C>T	c.(868-870)tgC>tgT	p.C290C	FAM131B_ENST00000409578.1_Silent_p.C306C|FAM131B_ENST00000443739.2_Silent_p.C318C|FAM131B_ENST00000409222.3_Silent_p.C290C|FAM131B_ENST00000409346.1_Silent_p.C290C			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	290										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CCAGGTCCCGGCATCCCGCAT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	169	167			NA	NA	7		NA											NA				143053772		2203	4300	6503	SO:0001819	synonymous_variant			BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784	9715	9715			22202	protein-coding gene	gene with protein product					NA		Standard	NM_014690	NM_014690	NA	Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.870C>T	7.37:g.143053772G>A		NA	A4D2H6|A8K605|B8ZZN2|D3DXE3|Q7L0D6|Q86T97	37	CCDS5882.1																																																																																			FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328057.1		-	ENST00000409408.1	Silent	SNP	7 : 143053772 - 143053772 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1204	7
FAM135A	57579	broad.mit.edu	37	6	71246002	71246002	+	Silent	SNP	A	A	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:71246002A>T	ENST00000505769.1	+	19	3152	c.2745A>T	c.(2743-2745)tcA>tcT	p.S915S	FAM135A_ENST00000505868.1_Silent_p.S1335S|FAM135A_ENST00000418814.2_Silent_p.S1335S|FAM135A_ENST00000370479.3_Silent_p.S1122S|FAM135A_ENST00000361499.3_Silent_p.S1139S|FAM135A_ENST00000457062.2_Silent_p.S1122S			Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1335										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TAATTCGTTCAGTGCTTACAA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	138	137			NA	NA	6		NA											NA				71246002		2202	4299	6501	SO:0001819	synonymous_variant			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269	57579	57579			21084	protein-coding gene	gene with protein product			KIAA1411	KIAA1411	NA	10718198	Standard	NM_020819	NM_001105531	NA	Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000505769.1:c.2745A>T	6.37:g.71246002A>T		NA	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	37																																																																																				FAM135A-004	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000360643.1		+	ENST00000505769.1	Silent	SNP	6 : 71246002 - 71246002 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	444	178
FAM135B	51059	broad.mit.edu	37	8	139145029	139145029	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:139145029G>T	ENST00000395297.1	-	20	4198	c.4028C>A	c.(4027-4029)gCa>gAa	p.A1343E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1343										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GATCATTTCTGCATAAACTGG	0.493		NA								HNSCC(54;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	153	152			NA	NA	8		NA											NA				139145029		1951	4145	6096	SO:0001583	missense			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724	51059	51059			28029	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_015912	NM_015912	NA	Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4028C>A	8.37:g.139145029G>T	ENSP00000378710:p.Ala1343Glu	NA	B5MDB3|O95879|Q2WGJ7|Q3KP46	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700513	0.88924	.	.	ENSG00000147724	ENST00000395297	T	0.14391	2.51	5.74	4.68	0.58851	.	0.120568	0.56097	D	0.000029	T	0.30262	0.0759	L	0.50333	1.59	0.38581	D	0.950185	D	0.89917	1.0	D	0.69307	0.963	T	0.02358	-1.1171	10	0.66056	D	0.02	-19.3604	14.7346	0.69406	0.0813:0.0:0.9187:0.0	.	1343	Q49AJ0	F135B_HUMAN	E	1343	ENSP00000378710:A1343E	ENSP00000378710:A1343E	A	-	2	0	FAM135B	139214211	1.000000	0.71417	0.833000	0.33012	0.994000	0.84299	6.617000	0.74210	2.723000	0.93209	0.655000	0.94253	GCA	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313590.3		-	ENST00000395297.1	Missense_Mutation	SNP	8 : 139145029 - 139145029 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1072	72
FAM209A	200232	broad.mit.edu	37	20	55100020	55100020	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:55100020C>T	ENST00000371328.3	+	1	479	c.156C>T	c.(154-156)acC>acT	p.T52T	GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2			family with sequence similarity 209, member A	NA											NA						CAGAGCACACCCAAGGCTGGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	127	132			NA	NA	20		NA											NA				55100020		2203	4300	6503	SO:0001819	synonymous_variant			AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103	200232	200232			16100	protein-coding gene	gene with protein product			chromosome 20 open reading frame 106	C20orf106	NA		Standard		NM_001012971	NA	Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.156C>T	20.37:g.55100020C>T		NA		37	CCDS33493.1																																																																																			FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079815.2		+	ENST00000371328.3	Silent	SNP	20 : 55100020 - 55100020 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	616	48
FFAR3	2865	broad.mit.edu	37	19	35849914	35849914	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:35849914G>A	ENST00000327809.4	+	2	323	c.122G>A	c.(121-123)gGc>gAc	p.G41D	FFAR3_ENST00000594310.1_Missense_Mutation_p.G41D	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	41						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GTCTTCGTGGGCAAGCTGCAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(185;1742 2042 21963 24215 27871)							NA				0													170	154	160			NA	NA	19		NA											NA				35849914		2199	4295	6494	SO:0001583	missense			AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897	2865	2865		GPCR / Class A : Fatty acid receptors	4499	protein-coding gene	gene with protein product		603821	G protein-coupled receptor 41	GPR41	NA	9344866, 22493486	Standard	NM_005304	NM_005304	NA	Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.122G>A	19.37:g.35849914G>A	ENSP00000328230:p.Gly41Asp	NA	B2RWM8|Q14CM7	37	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163154	0.38217	.	.	ENSG00000185897	ENST00000327809	T	0.37235	1.21	4.99	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.642786	0.15113	U	0.279845	T	0.33294	0.0858	M	0.64404	1.975	0.29428	N	0.860037	P	0.40360	0.714	B	0.40782	0.34	T	0.18587	-1.0332	10	0.35671	T	0.21	-10.7349	6.5349	0.22348	0.1713:0.1498:0.6788:0.0	.	41	O14843	FFAR3_HUMAN	D	41	ENSP00000328230:G41D	ENSP00000328230:G41D	G	+	2	0	FFAR3	40541754	0.000000	0.05858	0.992000	0.48379	0.704000	0.40688	-0.559000	0.05971	0.252000	0.21531	0.455000	0.32223	GGC	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418873.2		+	ENST00000327809.4	Missense_Mutation	SNP	19 : 35849914 - 35849914 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	621	5
FHOD3	80206	broad.mit.edu	37	18	34310682	34310682	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:34310682G>A	ENST00000590592.1	+	20	3491	c.3491G>A	c.(3490-3492)gGt>gAt	p.G1164D	FHOD3_ENST00000445677.1_Missense_Mutation_p.G951D|FHOD3_ENST00000257209.4_Missense_Mutation_p.G989D|FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000591635.1_Missense_Mutation_p.G185D|FHOD3_ENST00000359247.4_Missense_Mutation_p.G972D	NM_001281740.1	NP_001268669.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	972	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ATCAATATTGGTCTGACGGTG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	122	127			NA	NA	18		NA											NA				34310682		2203	4300	6503	SO:0001583	missense			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775	80206	80206			26178	protein-coding gene	gene with protein product		609691			NA	11214970	Standard	XM_371114	NM_025135	NA	Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000590592.1:c.3491G>A	18.37:g.34310682G>A	ENSP00000466937:p.Gly1164Asp	NA	A8MQT4|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	37	CCDS32816.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680469	0.88542	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.17213	2.29;2.29;2.29	5.33	5.33	0.75918	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.47469	0.1447	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;1.0;0.976	T	0.52208	-0.8606	10	0.72032	D	0.01	.	17.6127	0.88059	0.0:0.0:1.0:0.0	.	951;972;989	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	D	989;972;951	ENSP00000257209:G989D;ENSP00000352186:G972D;ENSP00000411430:G951D	ENSP00000257209:G989D	G	+	2	0	FHOD3	32564680	1.000000	0.71417	0.457000	0.27056	0.991000	0.79684	9.756000	0.98918	2.479000	0.83701	0.557000	0.71058	GGT	FHOD3-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460883.1		+	ENST00000590592.1	Missense_Mutation	SNP	18 : 34310682 - 34310682 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	691	6
FOXD4	2298	broad.mit.edu	37	9	118035	118035	+	Missense_Mutation	SNP	C	C	T	rs142161808		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:118035C>T	ENST00000382500.2	-	1	382	c.85G>A	c.(85-87)Gtc>Atc	p.V29I		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	29					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCTCCCAGGACATCGATTTTA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	60	56			NA	NA	9		NA											NA				118035		2203	4300	6503	SO:0001583	missense			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122	2298	2298		Forkhead boxes	3805	protein-coding gene	gene with protein product		601092		FKHL9	NA	7957066, 8825632, 12234674	Standard	NM_207305	NM_207305	NA	Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.85G>A	9.37:g.118035C>T	ENSP00000371940:p.Val29Ile	NA	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	37	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	5.226	0.227116	0.09916	.	.	ENSG00000170122	ENST00000382500	D	0.94723	-3.5	2.31	-0.482	0.12078	.	0.426697	0.13546	N	0.379836	D	0.82628	0.5078	N	0.04880	-0.145	0.23401	N	0.997757	B	0.06786	0.001	B	0.04013	0.001	T	0.69892	-0.5022	10	0.16420	T	0.52	.	5.686	0.17803	0.0:0.3505:0.0:0.6495	.	29	Q12950	FOXD4_HUMAN	I	29	ENSP00000371940:V29I	ENSP00000371940:V29I	V	-	1	0	FOXD4	108035	0.591000	0.26824	0.516000	0.27786	0.010000	0.07245	0.815000	0.27253	-0.311000	0.08754	-1.320000	0.01293	GTC	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055433.1		-	ENST00000382500.2	Missense_Mutation	SNP	9 : 118035 - 118035 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	666	31
FREM2	341640	broad.mit.edu	37	13	39454821	39454821	+	Missense_Mutation	SNP	G	G	A	rs142012270		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:39454821G>A	ENST00000280481.7	+	24	9623	c.9407G>A	c.(9406-9408)aGg>aAg	p.R3136K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	3136					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGATGTGCAGGGGCAAGGAA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LYS/ARG	0,4406		0,0,2203	61	60	60		9407	-1.5	0	13	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	missense	FREM2	NM_207361.4	26	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	3136/3170	39454821	1,13005	2203	4300	6503	SO:0001583	missense			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893	341640	341640			25396	protein-coding gene	gene with protein product		608945			NA	15345741	Standard	NM_207361	NM_207361	NA	Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.9407G>A	13.37:g.39454821G>A	ENSP00000280481:p.Arg3136Lys	NA	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	7.680	0.688906	0.14973	0.0	1.16E-4	ENSG00000150893	ENST00000280481	T	0.17528	2.27	5.43	-1.55	0.08558	.	0.443522	0.26549	N	0.023741	T	0.07728	0.0194	N	0.10916	0.065	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25916	-1.0118	10	0.35671	T	0.21	.	10.0903	0.42443	0.6461:0.0:0.3539:0.0	.	3136	Q5SZK8	FREM2_HUMAN	K	3136	ENSP00000280481:R3136K	ENSP00000280481:R3136K	R	+	2	0	FREM2	38352821	0.184000	0.23200	0.002000	0.10522	0.049000	0.14656	0.940000	0.28992	-0.516000	0.06470	-0.253000	0.11424	AGG	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044599.2		+	ENST00000280481.7	Missense_Mutation	SNP	13 : 39454821 - 39454821 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	441	15
FTSJ3	117246	broad.mit.edu	37	17	61901211	61901211	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:61901211C>T	ENST00000427159.2	-	13	1901	c.1256G>A	c.(1255-1257)gGc>gAc	p.G419D		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	419					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGAGAACATGCCAGTCTCCCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	122	125			NA	NA	17		NA											NA				61901211		2203	4300	6503	SO:0001583	missense			AF327355	CCDS11644.1	17q23.3	2014-09-11			ENSG00000108592	ENSG00000108592	117246	117246			17136	protein-coding gene	gene with protein product	SPB1 RNA methyltransferase homolog (S. cerevisiae)				NA		Standard		NM_017647	NA	Approved	SPB1	uc002jca.3	Q8IY81	OTTHUMG00000179012	ENST00000427159.2:c.1256G>A	17.37:g.61901211C>T	ENSP00000396673:p.Gly419Asp	NA	B2RCA5|D3DU22|Q8N3A3|Q8WXX1|Q9BWM4|Q9NXT6	37	CCDS11644.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707650	0.48412	.	.	ENSG00000108592	ENST00000427159	T	0.27557	1.66	5.65	5.65	0.86999	.	0.142754	0.50627	D	0.000111	T	0.37265	0.0997	L	0.39898	1.24	0.40987	D	0.984821	D	0.65815	0.995	P	0.57425	0.82	T	0.03684	-1.1013	10	0.02654	T	1	-24.3144	17.2626	0.87075	0.0:1.0:0.0:0.0	.	419	Q8IY81	RRMJ3_HUMAN	D	419	ENSP00000396673:G419D	ENSP00000396673:G419D	G	-	2	0	FTSJ3	59254943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.528000	0.60580	2.941000	0.99782	0.655000	0.94253	GGC	FTSJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444386.1		-	ENST00000427159.2	Missense_Mutation	SNP	17 : 61901211 - 61901211 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	750	6
FXR1	8087	broad.mit.edu	37	3	180688069	180688069	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:180688069G>A	ENST00000357559.4	+	15	1910	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q	FXR1_ENST00000491062.1_Missense_Mutation_p.R460Q|FXR1_ENST00000480918.1_Missense_Mutation_p.R496Q|FXR1_ENST00000468861.1_Missense_Mutation_p.R424Q|FXR1_ENST00000445140.2_Missense_Mutation_p.R509Q|FXR1_ENST00000305586.7_Missense_Mutation_p.R424Q	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	509	Poly-Arg.				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TCTCGTAGACGAAGGACTGAT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	115	122			NA	NA	3		NA											NA				180688069		2203	4300	6503	SO:0001583	missense			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416	NA	8087			4023	protein-coding gene	gene with protein product		600819			NA	7781595, 9642279	Standard		NM_005087	NA	Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1526G>A	3.37:g.180688069G>A	ENSP00000350170:p.Arg509Gln	NA	A8K9B8|Q7Z450|Q8N6R8	37	CCDS3238.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.769247|5.769247	0.96914|0.96914	.|.	.|.	ENSG00000114416|ENSG00000114416	ENST00000482125|ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	.|T;T;T;T;T;T	.|0.46063	.|1.26;1.13;0.89;0.88;0.88;1.01	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65015|0.65015	0.2651|0.2651	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0;0.997	.|D;D;D;D;D;D	.|0.87578	.|0.994;0.996;0.996;0.99;0.998;0.953	T|T	0.62393|0.62393	-0.6864|-0.6864	5|10	.|0.52906	.|T	.|0.07	-5.2416|-5.2416	20.3011|20.3011	0.98612|0.98612	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|496;460;424;453;509;509	.|B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.|.;.;.;.;.;FXR1_HUMAN	K|Q	110|509;424;460;424;509;496	.|ENSP00000350170:R509Q;ENSP00000307633:R424Q;ENSP00000420643:R460Q;ENSP00000420515:R424Q;ENSP00000388828:R509Q;ENSP00000418097:R496Q	.|ENSP00000307633:R424Q	E|R	+|+	1|2	0|0	FXR1|FXR1	182170763|182170763	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.476000|9.476000	0.97823|0.97823	2.804000|2.804000	0.96469|0.96469	0.650000|0.650000	0.86243|0.86243	GAA|CGA	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350265.5		+	ENST00000357559.4	Missense_Mutation	SNP	3 : 180688069 - 180688069 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	511	33
GEMIN2	8487	broad.mit.edu	37	14	39591707	39591707	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:39591707G>A	ENST00000308317.6	+	5	562	c.479G>A	c.(478-480)gGa>gAa	p.G160E	GEMIN2_ENST00000396249.2_Missense_Mutation_p.G160E|GEMIN2_ENST00000250379.8_Missense_Mutation_p.G160E	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	160					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding				NA						GGGGCTGTTGGACCAGCCACA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	42	41			NA	NA	14		NA											NA				39591707		2203	4300	6503	SO:0001583	missense			AF027150	CCDS9669.1, CCDS32068.1, CCDS41946.1	14q21.1	2011-08-04	2011-08-04	2011-08-04	ENSG00000092208	ENSG00000092208	8487	8487			10884	protein-coding gene	gene with protein product		602595	survival of motor neuron protein interacting protein 1	SIP1	NA	9323130, 9323129, 11121410	Standard		NM_003616	NA	Approved		uc001wuq.3	O14893	OTTHUMG00000028816	ENST00000308317.6:c.479G>A	14.37:g.39591707G>A	ENSP00000308533:p.Gly160Glu	NA	B2R9W8|Q2M3B3|Q9H4F5|Q9NS77|Q9NS78|Q9NS79	37	CCDS9669.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	2.819|2.819|2.819	-0.245166|-0.245166|-0.245166	0.05906|0.05906|0.05906	.|.|.	.|.|.	ENSG00000092208|ENSG00000092208|ENSG00000092208	ENST00000527381|ENST00000308317;ENST00000396249;ENST00000250379|ENST00000534684	.|.|.	.|.|.	.|.|.	5.63|5.63|5.63	3.43|3.43|3.43	0.39272|0.39272|0.39272	.|.|.	.|0.457002|.	.|0.27447|.	.|N|.	.|0.019331|.	T|T|.	0.16854|0.16854|.	0.0405|0.0405|.	N|N|N	0.02539|0.02539|0.02539	-0.55|-0.55|-0.55	0.33442|0.33442|0.33442	D|D|D	0.58247|0.58247|0.58247	.|B;B;B|.	.|0.06786|.	.|0.0;0.0;0.001|.	.|B;B;B|.	.|0.09377|.	.|0.001;0.002;0.004|.	T|T|.	0.23440|0.23440|.	-1.0188|-1.0188|.	5|9|.	.|0.02654|.	.|T|.	.|1|.	-18.72|-18.72|-18.72	7.311|7.311|7.311	0.26475|0.26475|0.26475	0.1779:0.1773:0.6448:0.0|0.1779:0.1773:0.6448:0.0|0.1779:0.1773:0.6448:0.0	.|.|.	.|160;160;160|.	.|O14893-2;O14893-3;O14893|.	.|.;.;GEMI2_HUMAN|.	N|E|X	149|160|154	.|.|.	.|ENSP00000250379:G160E|.	D|G|W	+|+|+	1|2|3	0|0|0	GEMIN2|GEMIN2|GEMIN2	38661458|38661458|38661458	0.985000|0.985000|0.985000	0.35326|0.35326|0.35326	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.821000|0.821000|0.821000	0.46438|0.46438|0.46438	0.541000|0.541000|0.541000	0.23207|0.23207|0.23207	1.353000|1.353000|1.353000	0.45828|0.45828|0.45828	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	GAC|GGA|TGG	GEMIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276730.2		+	ENST00000308317.6	Missense_Mutation	SNP	14 : 39591707 - 39591707 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	201	19
GMPR	2766	broad.mit.edu	37	6	16254859	16254859	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:16254859G>T	ENST00000259727.4	+	4	472	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	120					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				CCTGGAAGCTGTGCCACAGGT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	202	206			NA	NA	6		NA											NA				16254859		2203	4300	6503	SO:0001583	missense				CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	2766	2766	1.7.1.7		4376	protein-coding gene	gene with protein product		139265			NA	2194676	Standard		NM_006877	NA	Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.358G>T	6.37:g.16254859G>T	ENSP00000259727:p.Val120Leu	NA	Q96HQ6	37	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	G	4.583	0.108402	0.08780	.	.	ENSG00000137198	ENST00000259727	T	0.17054	2.3	5.65	2.83	0.33086	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.181713	0.49305	N	0.000141	T	0.03564	0.0102	L	0.42245	1.32	0.46298	D	0.998973	B	0.11235	0.004	B	0.13407	0.009	T	0.32241	-0.9914	10	0.08599	T	0.76	-2.5539	4.6069	0.12382	0.2538:0.3194:0.4268:0.0	.	120	P36959	GMPR1_HUMAN	L	120	ENSP00000259727:V120L	ENSP00000259727:V120L	V	+	1	0	GMPR	16362838	0.999000	0.42202	0.342000	0.25602	0.606000	0.37113	3.281000	0.51685	0.293000	0.22520	-0.175000	0.13238	GTG	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039942.2		+	ENST00000259727.4	Missense_Mutation	SNP	6 : 16254859 - 16254859 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	792	339
GRIA4	2893	broad.mit.edu	37	11	105483022	105483022	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:105483022C>T	ENST00000530497.1	+	2	108	c.108C>T	c.(106-108)aaC>aaT	p.N36N	GRIA4_ENST00000525187.1_Silent_p.N36N|GRIA4_ENST00000393127.2_Silent_p.N36N|GRIA4_ENST00000428631.2_Silent_p.N36N|GRIA4_ENST00000393125.2_Silent_p.N36N|GRIA4_ENST00000527669.1_Silent_p.N36N|GRIA4_ENST00000282499.5_Silent_p.N36N			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	36					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TCATCCGAAACACAGATCAGG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	116	122			NA	NA	11		NA											NA				105483022		2202	4299	6501	SO:0001819	synonymous_variant			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578	NA	2893		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4574	protein-coding gene	gene with protein product		138246	glutamate receptor, ionotrophic, AMPA 4	GLUR4	NA		Standard		NM_001077244	NA	Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.108C>T	11.37:g.105483022C>T		NA		37	CCDS8333.1																																																																																			GRIA4-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388593.1		+	ENST00000530497.1	Silent	SNP	11 : 105483022 - 105483022 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	400	23
GRINA	2907	broad.mit.edu	37	8	145066693	145066693	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:145066693A>G	ENST00000313269.5	+	6	1161	c.883A>G	c.(883-885)Atc>Gtc	p.I295V	GRINA_ENST00000395068.4_Missense_Mutation_p.I295V	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	295						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTGCTCTTCATCTTCGCCAT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	95	105			NA	NA	8		NA											NA				145066693		2203	4300	6503	SO:0001583	missense			NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01				2907	2907			4589	protein-coding gene	gene with protein product	transmembrane BAX inhibitor motif containing 3	138251		NMDARA1	NA	1719427, 8406459	Standard	NM_001009184	XM_005250899	NA	Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.883A>G	8.37:g.145066693A>G	ENSP00000314380:p.Ile295Val	NA	B3KXM7|O43836|Q8IVW7	37	CCDS34961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.48|10.48	1.363144|1.363144	0.24684|0.24684	.|.	.|.	ENSG00000178719|ENSG00000178719	ENST00000533044;ENST00000527194|ENST00000313269;ENST00000395068;ENST00000537637	.|T;T	.|0.41065	.|1.01;1.01	5.4|5.4	-5.08|-5.08	0.02929|0.02929	.|.	.|0.457240	.|0.23293	.|N	.|0.049778	T|T	0.15176|0.15176	0.0366|0.0366	N|N	0.12569|0.12569	0.235|0.235	0.22581|0.22581	N|N	0.998961|0.998961	.|B	.|0.19331	.|0.035	.|B	.|0.15870	.|0.014	T|T	0.29488|0.29488	-1.0010|-1.0010	5|10	.|0.10377	.|T	.|0.69	-14.2202|-14.2202	6.2907|6.2907	0.21059|0.21059	0.282:0.402:0.316:0.0|0.282:0.402:0.316:0.0	.|.	.|295	.|Q7Z429	.|GRINA_HUMAN	R|V	117;107|295;295;276	.|ENSP00000314380:I295V;ENSP00000378507:I295V	.|ENSP00000314380:I295V	H|I	+|+	2|1	0|0	GRINA|GRINA	145138681|145138681	0.000000|0.000000	0.05858|0.05858	0.104000|0.104000	0.21259|0.21259	0.997000|0.997000	0.91878|0.91878	-2.043000|-2.043000	0.01413|0.01413	-0.933000|-0.933000	0.03737|0.03737	0.529000|0.529000	0.55759|0.55759	CAT|ATC	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384048.1		+	ENST00000313269.5	Missense_Mutation	SNP	8 : 145066693 - 145066693 G PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	226	86
HEATR2	54919	broad.mit.edu	37	7	803512	803512	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:803512C>G	ENST00000297440.6	+	8	1704	c.1684C>G	c.(1684-1686)Cac>Gac	p.H562D	HEATR2_ENST00000313147.5_Missense_Mutation_p.H562D	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	562							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTACCGCAAGCACATTGGTCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	128	136			NA	NA	7		NA											NA				803512		2203	4300	6503	SO:0001583	missense			AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818	54919	54919			26013	protein-coding gene	gene with protein product		614864			NA	23040496	Standard	NM_017802	NM_017802	NA	Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1684C>G	7.37:g.803512C>G	ENSP00000297440:p.His562Asp	NA	Q69YL1|Q96FI9|Q9NX75	37	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.87|13.87	2.366824|2.366824	0.41902|0.41902	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000440747|ENST00000297440;ENST00000313147;ENST00000537862	.|T;T	.|0.66280	.|-0.2;-0.2	5.03|5.03	3.23|3.23	0.37069|0.37069	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75376|0.75376	0.3841|0.3841	M|M	0.81239|0.81239	2.535|2.535	0.48975|0.48975	D|D	0.999731|0.999731	.|D;D	.|0.62365	.|0.973;0.991	.|P;P	.|0.60789	.|0.528;0.879	T|T	0.77349|0.77349	-0.2621|-0.2621	5|10	.|0.72032	.|D	.|0.01	-41.7014|-41.7014	11.5093|11.5093	0.50484|0.50484	0.0:0.8524:0.0:0.1476|0.0:0.8524:0.0:0.1476	.|.	.|562;308	.|Q86Y56;F5H8D4	.|HEAT2_HUMAN;.	G|D	363|562;562;308	.|ENSP00000297440:H562D;ENSP00000321451:H562D	.|ENSP00000297440:H562D	A|H	+|+	2|1	0|0	HEATR2|HEATR2	770038|770038	0.998000|0.998000	0.40836|0.40836	0.018000|0.018000	0.16275|0.16275	0.082000|0.082000	0.17680|0.17680	3.409000|3.409000	0.52657|0.52657	0.630000|0.630000	0.30394|0.30394	-0.254000|-0.254000	0.11334|0.11334	GCA|CAC	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322542.1		+	ENST00000297440.6	Missense_Mutation	SNP	7 : 803512 - 803512 G PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	850	330
HECTD2	143279	broad.mit.edu	37	10	93221081	93221081	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:93221081G>A	ENST00000298068.5	+	4	572	c.478G>A	c.(478-480)Gat>Aat	p.D160N	HECTD2_ENST00000371681.4_Missense_Mutation_p.D160N|HECTD2_ENST00000446394.1_Missense_Mutation_p.D160N	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	160					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AACAACGTTTGATTCTTTCCC	0.269		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(12;376 469 1699 39910 41417)							NA				0													92	108	103			NA	NA	10		NA											NA				93221081		2201	4288	6489	SO:0001583	missense			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338	143279	143279			26736	protein-coding gene	gene with protein product			HECT domain containing 2		NA	8619474, 9110174	Standard		NM_001284274	NA	Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.478G>A	10.37:g.93221081G>A	ENSP00000298068:p.Asp160Asn	NA	Q5VZ97|Q5VZ99|Q8TCP5	37	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888072	0.72524	.	.	ENSG00000165338	ENST00000446394;ENST00000371681;ENST00000298068	T;T;T	0.56275	1.16;0.47;1.17	5.1	5.1	0.69264	.	0.056638	0.64402	D	0.000002	T	0.66426	0.2788	L	0.50333	1.59	0.80722	D	1	B;B;D	0.71674	0.417;0.417;0.998	B;B;D	0.81914	0.158;0.158;0.995	T	0.60566	-0.7238	10	0.20519	T	0.43	.	18.107	0.89523	0.0:0.0:1.0:0.0	.	160;160;160	E7ERR3;Q5U5R9;Q5VZ98	.;HECD2_HUMAN;.	N	160	ENSP00000401023:D160N;ENSP00000360746:D160N;ENSP00000298068:D160N	ENSP00000298068:D160N	D	+	1	0	HECTD2	93211061	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.253000	0.89842	2.372000	0.80975	0.467000	0.42956	GAT	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098620.1		+	ENST00000298068.5	Missense_Mutation	SNP	10 : 93221081 - 93221081 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	939	30
HIST1H1E	3008	broad.mit.edu	37	6	26156692	26156692	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:26156692G>A	ENST00000304218.3	+	1	134	c.74G>A	c.(73-75)cGc>cAc	p.R25H		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	25					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.R25P(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAGAAGGCCCGCAAGTCTGCA	0.647		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)											32	41	38			NA	NA	6		NA											NA				26156692		2185	4281	6466	SO:0001583	missense			M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298	3008	3008		Histones / Replication-dependent	4718	protein-coding gene	gene with protein product		142220	H1 histone family, member 4, histone 1, H1e	H1F4	NA	1916825, 12408966	Standard	NM_005321	NM_005321	NA	Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.74G>A	6.37:g.26156692G>A	ENSP00000307705:p.Arg25His	NA	Q4VB25	37	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	11.37	1.618776	0.28801	.	.	ENSG00000168298	ENST00000304218	T	0.09163	3.01	5.49	4.39	0.52855	.	0.297668	0.33980	N	0.004377	T	0.01870	0.0059	N	0.08118	0	0.32768	N	0.504197	B	0.09022	0.002	B	0.01281	0.0	T	0.36407	-0.9749	10	0.66056	D	0.02	-2.4329	4.5977	0.12338	0.2792:0.0:0.7208:0.0	.	25	P10412	H14_HUMAN	H	25	ENSP00000307705:R25H	ENSP00000307705:R25H	R	+	2	0	HIST1H1E	26264671	0.008000	0.16893	1.000000	0.80357	0.089000	0.18198	1.543000	0.36147	2.727000	0.93392	0.655000	0.94253	CGC	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040084.1		+	ENST00000304218.3	Missense_Mutation	SNP	6 : 26156692 - 26156692 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	540	7
HPD	3242	broad.mit.edu	37	12	122285009	122285009	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:122285009G>A	ENST00000543163.1	-	11	1036	c.591C>T	c.(589-591)atC>atT	p.I197I	HPD_ENST00000289004.4_Silent_p.I236I|HPD_ENST00000543869.2_5'UTR	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	236					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TGGGCATCTTGATGGACTCTT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	138	141			NA	NA	12		NA											NA				122285009		2203	4300	6503	SO:0001819	synonymous_variant			BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	3242	3242	1.13.11.27		5147	protein-coding gene	gene with protein product	glyoxalase domain containing 3	609695		PPD	NA		Standard	NM_002150	NM_001171993	NA	Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000543163.1:c.591C>T	12.37:g.122285009G>A		NA	A8K461|Q13234	37	CCDS53839.1																																																																																			HPD-001	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402185.1		-	ENST00000543163.1	Silent	SNP	12 : 122285009 - 122285009 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	495	119
HS3ST3B1	9953	broad.mit.edu	37	17	14205233	14205233	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:14205233G>A	ENST00000360954.2	+	1	834	c.398G>A	c.(397-399)gGg>gAg	p.G133E		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	133					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		AGTGGGTCTGGGAGCAAGCAG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	13	12			NA	NA	17		NA											NA				14205233		2198	4278	6476	SO:0001583	missense			AF105377	CCDS11167.1	17p12	2007-04-02			ENSG00000125430	ENSG00000125430	9953	9953	2.8.2.23	Sulfotransferases, membrane-bound	5198	protein-coding gene	gene with protein product		604058			NA	9988767	Standard	NM_006041	NM_006041	NA	Approved	3OST3B1, 30ST3B1	uc002goh.1	Q9Y662	OTTHUMG00000058810	ENST00000360954.2:c.398G>A	17.37:g.14205233G>A	ENSP00000354213:p.Gly133Glu	NA	B3KN58|D3DTS6	37	CCDS11167.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384840	0.61956	.	.	ENSG00000125430	ENST00000360954	T	0.43294	0.95	4.26	3.21	0.36854	.	0.000000	0.64402	U	0.000001	T	0.32585	0.0834	L	0.50993	1.605	0.58432	D	0.999996	P	0.39480	0.675	B	0.28385	0.089	T	0.40098	-0.9581	10	0.42905	T	0.14	.	14.8206	0.70070	0.0:0.1448:0.8552:0.0	.	133	Q9Y662	HS3SB_HUMAN	E	133	ENSP00000354213:G133E	ENSP00000354213:G133E	G	+	2	0	HS3ST3B1	14145958	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	6.788000	0.75105	2.375000	0.81037	0.555000	0.69702	GGG	HS3ST3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000129998.1		+	ENST00000360954.2	Missense_Mutation	SNP	17 : 14205233 - 14205233 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	110	45
HSPA12A	259217	broad.mit.edu	37	10	118460624	118460624	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:118460624C>T	ENST00000369209.3	-	4	375	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	91							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		ACACCAGGGTCACCTCCCTCC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	78	76			NA	NA	10		NA											NA				118460624		2086	4220	6306	SO:0001583	missense			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868	259217	259217		Heat shock proteins / HSP70	19022	protein-coding gene	gene with protein product		610701	heat shock 70kD protein 12A		NA	12552099	Standard	NM_025015	NM_025015	NA	Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.271G>A	10.37:g.118460624C>T	ENSP00000358211:p.Asp91Asn	NA		37	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652948	0.88056	.	.	ENSG00000165868	ENST00000369209	T	0.44482	0.92	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	L	0.52573	1.65	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.51764	-0.8664	10	0.29301	T	0.29	.	19.6599	0.95861	0.0:1.0:0.0:0.0	.	91	O43301	HS12A_HUMAN	N	91	ENSP00000358211:D91N	ENSP00000358211:D91N	D	-	1	0	HSPA12A	118450614	1.000000	0.71417	0.935000	0.37517	0.783000	0.44284	7.726000	0.84824	2.652000	0.90054	0.655000	0.94253	GAC	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050530.1		-	ENST00000369209.3	Missense_Mutation	SNP	10 : 118460624 - 118460624 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	607	27
IFIT1	3434	broad.mit.edu	37	10	91162380	91162380	+	Silent	SNP	T	T	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:91162380T>A	ENST00000371804.3	+	2	515	c.348T>A	c.(346-348)acT>acA	p.T116T	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000546318.1_Silent_p.T85T	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	116					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AAGCCCAGACTTACCTGGACA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	47	47			NA	NA	10		NA											NA				91162380		2203	4300	6503	SO:0001819	synonymous_variant			M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745	3434	3434		Tetratricopeptide (TTC) repeat domain containing	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1	NA	1377167, 3360121	Standard	NM_001548	NM_001548	NA	Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.348T>A	10.37:g.91162380T>A		NA	Q96QM5	37	CCDS31243.1																																																																																			IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049302.1		+	ENST00000371804.3	Silent	SNP	10 : 91162380 - 91162380 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	398	121
ILF3	3609	broad.mit.edu	37	19	10799894	10799894	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:10799894G>A	ENST00000590261.1	+	19	2591	c.2591G>A	c.(2590-2592)gGc>gAc	p.G864D	ILF3_ENST00000449870.1_Missense_Mutation_p.G868D|ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000588657.1_Missense_Mutation_p.G868D|ILF3_ENST00000318511.3_Missense_Mutation_p.G864D			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	864	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	p.G864D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCGGGGTCCGGCCAGAACTAC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	prostate(1)											123	131	128			NA	NA	19		NA											NA				10799894		2203	4300	6503	SO:0001583	missense			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351	3609	3609			6038	protein-coding gene	gene with protein product	M-phase phosphoprotein 4	603182	interleukin enhancer binding factor 3, 90kD		NA	7519613, 8885239	Standard		NM_012218	NA	Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2591G>A	19.37:g.10799894G>A	ENSP00000468156:p.Gly864Asp	NA	A8K6F2|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	37	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237512	0.58886	.	.	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.14022	2.54;2.54	5.32	5.32	0.75619	.	0.675832	0.15183	N	0.276001	T	0.09818	0.0241	N	0.12182	0.205	0.80722	D	1	B;B	0.27416	0.178;0.111	B;B	0.30251	0.113;0.053	T	0.17531	-1.0366	10	0.66056	D	0.02	.	11.9264	0.52823	0.0826:0.0:0.9174:0.0	.	868;864	G5E9M5;Q12906	.;ILF3_HUMAN	D	868;864	ENSP00000404121:G868D;ENSP00000315205:G864D	ENSP00000315205:G864D	G	+	2	0	ILF3	10660894	1.000000	0.71417	0.907000	0.35723	0.903000	0.53119	3.118000	0.50414	2.767000	0.95098	0.655000	0.94253	GGC	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452074.1		+	ENST00000590261.1	Missense_Mutation	SNP	19 : 10799894 - 10799894 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1196	7
IMPDH1	3614	broad.mit.edu	37	7	128035019	128035019	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:128035019G>A	ENST00000338791.6	-	14	1824	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	IMPDH1_ENST00000343214.4_Missense_Mutation_p.R382W|IMPDH1_ENST00000348127.6_Missense_Mutation_p.R456W|IMPDH1_ENST00000480861.1_Missense_Mutation_p.R402W|IMPDH1_ENST00000470772.1_Missense_Mutation_p.R406W|IMPDH1_ENST00000354269.5_Missense_Mutation_p.R482W|IMPDH1_ENST00000496200.1_Missense_Mutation_p.R382W|IMPDH1_ENST00000419067.2_Missense_Mutation_p.R459W|IMPDH1_ENST00000378717.4_Missense_Mutation_p.R423W	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	407					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	TTCTTGAGCCGCACCCCGTCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	68	64			NA	NA	7		NA											NA				128035019		2203	4300	6503	SO:0001583	missense				CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	3614	3614	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	retinitis pigmentosa 10 (autosomal dominant), IMP (inosine monophosphate) dehydrogenase 1	RP10	NA	1969416, 11875049, 11875050	Standard	NM_000883	NM_000883	NA	Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000338791.6:c.1474C>T	7.37:g.128035019G>A	ENSP00000345096:p.Arg492Trp	NA	A4D0Z7|A6NDW5|B3KNP7|Q8N194|Q96NU2	37	CCDS34749.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577928	0.45902	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861	T;T;T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	4.56	1.1	0.20463	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.90116	0.6912	M	0.91768	3.24	0.58432	D	0.999995	D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.998;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;D;D	0.81914	0.972;0.981;0.97;0.989;0.995;0.991;0.993;0.968	D	0.89758	0.3945	10	0.87932	D	0	-12.0627	11.6853	0.51483	0.0:0.0:0.3774:0.6226	.	459;402;407;423;482;456;492;382	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	W	459;492;382;482;423;456;382;406;402	ENSP00000399400:R459W;ENSP00000345096:R492W;ENSP00000420803:R382W;ENSP00000346219:R482W;ENSP00000367989:R423W;ENSP00000265385:R456W;ENSP00000342438:R382W;ENSP00000417296:R406W;ENSP00000420185:R402W	ENSP00000345096:R492W	R	-	1	2	IMPDH1	127822255	0.861000	0.29849	0.997000	0.53966	0.983000	0.72400	1.127000	0.31357	0.002000	0.14630	-0.397000	0.06425	CGG	IMPDH1-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349458.1		-	ENST00000338791.6	Missense_Mutation	SNP	7 : 128035019 - 128035019 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	554	6
INA	9118	broad.mit.edu	37	10	105048170	105048170	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:105048170C>T	ENST00000369849.4	+	3	1293	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	415	Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TTAAGCATTTCGGGGCTGAAT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	115	116			NA	NA	10		NA											NA				105048170		2203	4300	6503	SO:0001583	missense			S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798	9118	9118		Intermediate filaments type IV	6057	protein-coding gene	gene with protein product		605338		NEF5	NA	7769995	Standard	NM_032727	NM_032727	NA	Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1244C>T	10.37:g.105048170C>T	ENSP00000358865:p.Ser415Leu	NA	B1AQK0|Q9BRC5	37	CCDS7545.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605805	0.46527	.	.	ENSG00000148798	ENST00000369849	D	0.84146	-1.81	5.17	3.31	0.37934	.	0.415688	0.24316	N	0.039593	T	0.70937	0.3281	N	0.19112	0.55	0.36157	D	0.847835	B	0.27264	0.173	B	0.18561	0.022	T	0.69698	-0.5075	10	0.72032	D	0.01	.	5.7714	0.18255	0.1578:0.6812:0.0:0.161	.	415	Q16352	AINX_HUMAN	L	415	ENSP00000358865:S415L	ENSP00000358865:S415L	S	+	2	0	INA	105038160	0.998000	0.40836	0.995000	0.50966	0.970000	0.65996	1.820000	0.39032	0.756000	0.33013	0.555000	0.69702	TCG	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050145.1		+	ENST00000369849.4	Missense_Mutation	SNP	10 : 105048170 - 105048170 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	768	363
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403							protein binding	p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				7	Substitution - Missense(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)											112	104	107			NA	NA	13		NA											NA				41705440		2203	4300	6503	SO:0001583	missense			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572	89890	89890		BTB/POZ domain containing	25340	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152903	NM_152903	NA	Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys	NA	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044657.1		-	ENST00000379485.1	Missense_Mutation	SNP	13 : 41705440 - 41705440 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1037	13
KCNK3	3777	broad.mit.edu	37	2	26950643	26950643	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:26950643G>A	ENST00000302909.3	+	2	517	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	131					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGCGAGCGCATCAACACC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(80;1457 1631 27100 45946)							NA				0													86	78	81			NA	NA	2		NA											NA				26950643		2203	4300	6503	SO:0001583	missense			AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303	3777	3777		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6278	protein-coding gene	gene with protein product		603220			NA	9312005, 9721223, 16382106	Standard	NM_002246	NM_002246	NA	Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.392G>A	2.37:g.26950643G>A	ENSP00000306275:p.Arg131His	NA	Q53SU2	37	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844252	0.91197	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.32272	1.46	5.27	5.27	0.74061	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	L	0.55017	1.72	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.52510	-0.8566	10	0.87932	D	0	.	16.7393	0.85455	0.0:0.0:1.0:0.0	.	131	O14649	KCNK3_HUMAN	H	8;131	ENSP00000306275:R131H	ENSP00000306275:R131H	R	+	2	0	KCNK3	26804147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.790000	0.99075	2.619000	0.88677	0.561000	0.74099	CGC	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246861.2		+	ENST00000302909.3	Missense_Mutation	SNP	2 : 26950643 - 26950643 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	556	6
KCNQ5	56479	broad.mit.edu	37	6	73751750	73751750	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:73751750G>A	ENST00000342056.2	+	3	979	c.581G>A	c.(580-582)aGa>aAa	p.R194K	KCNQ5_ENST00000403813.2_Missense_Mutation_p.R194K|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R194K|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R194K|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R194K|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R194K|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R194K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R194K	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	194					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGGCAAGGAAGACTGAGGTTT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(142;1375 1859 14391 23261 44706)							NA				0													320	287	298			NA	NA	6		NA											NA				73751750		2203	4300	6503	SO:0001583	missense			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760	56479	56479		Potassium channels, Voltage-gated ion channels / Potassium channels	6299	protein-coding gene	gene with protein product		607357			NA	10787416, 10816588, 16382104	Standard	NM_019842	NM_019842	NA	Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000342056.2:c.581G>A	6.37:g.73751750G>A	ENSP00000345055:p.Arg194Lys	NA	B5MC83|B7ZL37|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	37	CCDS55034.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258154	0.95368	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165;ENST00000443915;ENST00000441538	D;D;D;D;D;D;D;D;D;D	0.99552	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-6.15;-4.38	6.17	5.3	0.74995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99318	0.9761	L	0.52364	1.645	0.48696	D	0.999691	P;D;D;D;D;D	0.89917	0.953;0.999;0.998;0.997;1.0;0.997	P;D;D;D;D;D	0.83275	0.859;0.987;0.983;0.989;0.996;0.98	D	0.99338	1.0911	10	0.39692	T	0.17	.	16.9456	0.86229	0.0:0.0:0.8711:0.1289	.	194;194;194;194;194;194	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	K	194;194;194;194;194;194;194;194;194;32;31	ENSP00000345055:R194K;ENSP00000347326:R194K;ENSP00000359425:R194K;ENSP00000359419:R194K;ENSP00000385501:R194K;ENSP00000347853:R194K;ENSP00000384453:R194K;ENSP00000409861:R194K;ENSP00000414829:R32K;ENSP00000391971:R31K	ENSP00000345055:R194K	R	+	2	0	KCNQ5	73808471	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	1.602000	0.50124	0.655000	0.94253	AGA	KCNQ5-006	NOVEL	not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316124.1		+	ENST00000342056.2	Missense_Mutation	SNP	6 : 73751750 - 73751750 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	998	62
KIAA1217	56243	broad.mit.edu	37	10	24816938	24816938	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:24816938T>C	ENST00000307544.6	+	9	2353	c.2021T>C	c.(2020-2022)cTa>cCa	p.L674P	KIAA1217_ENST00000458595.1_Missense_Mutation_p.L956P|KIAA1217_ENST00000376451.2_Missense_Mutation_p.L674P|KIAA1217_ENST00000376454.3_Missense_Mutation_p.L991P|KIAA1217_ENST00000396446.1_Missense_Mutation_p.L674P|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000376462.1_Missense_Mutation_p.L911P|KIAA1217_ENST00000396445.1_Missense_Mutation_p.L674P|KIAA1217_ENST00000376452.3_Missense_Mutation_p.L956P	NM_001282769.1	NP_001269698.1	Q5T5P2	SKT_HUMAN	KIAA1217	991					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAGAAGCTCCTAGAAGAAGCT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	121	120			NA	NA	10		NA											NA				24816938		2203	4300	6503	SO:0001583	missense			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549	56243	56243			25428	protein-coding gene	gene with protein product	sickle tail				NA	10574462	Standard	NM_019590	XM_005252500	NA	Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000307544.6:c.2021T>C	10.37:g.24816938T>C	ENSP00000302343:p.Leu674Pro	NA	A5LHW9|A6PVQ5|A6PVQ6|A6PVQ7|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	37		.	.	.	.	.	.	.	.	.	.	T	22.0	4.231190	0.79688	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11	6.11	4.98	0.66077	.	0.075760	0.53938	N	0.000052	T	0.74574	0.3734	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.859	D;D;D;D;D;D;D;B	0.97110	0.999;0.999;0.999;1.0;1.0;1.0;0.999;0.435	T	0.75309	-0.3363	10	0.46703	T	0.11	.	12.0016	0.53235	0.0:0.0668:0.0:0.9332	.	956;956;674;674;674;674;991;991	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	P	911;956;674;991;956;674;674;674;674;674	ENSP00000365645:L911P;ENSP00000392625:L956P;ENSP00000365637:L991P;ENSP00000365635:L956P;ENSP00000302343:L674P;ENSP00000379722:L674P;ENSP00000365634:L674P;ENSP00000379723:L674P	ENSP00000302343:L674P	L	+	2	0	KIAA1217	24856944	0.998000	0.40836	0.954000	0.39281	0.986000	0.74619	7.670000	0.83925	1.142000	0.42291	0.533000	0.62120	CTA	KIAA1217-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000047220.2		+	ENST00000307544.6	Missense_Mutation	SNP	10 : 24816938 - 24816938 C PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	824	29
KIF9	64147	broad.mit.edu	37	3	47308515	47308515	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:47308515T>G	ENST00000265529.3	-	8	1399	c.719A>C	c.(718-720)aAa>aCa	p.K240T	KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000452770.2_Missense_Mutation_p.K240T|KIF9_ENST00000444589.2_Missense_Mutation_p.K240T|KIF9_ENST00000335044.2_Missense_Mutation_p.K240T|KIF9_ENST00000352910.4_Missense_Mutation_p.K147T			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	240	Kinesin-motor.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAAGTTAATTTTGGAAGTGAT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(44;962 1147 15977 24541)							NA				0													104	103	103			NA	NA	3		NA											NA				47308515		2203	4300	6503	SO:0001583	missense			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727	64147	64147		Kinesins	16666	protein-coding gene	gene with protein product		607910			NA	11483511	Standard		NM_022342	NA	Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.719A>C	3.37:g.47308515T>G	ENSP00000265529:p.Lys240Thr	NA	Q86Z28|Q9H8A4	37	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	T	32	5.115449	0.94339	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.93	5.93	0.95920	Kinesin, motor domain (5);Kinesin, motor region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.87684	0.6239	M	0.74647	2.275	0.48571	D	0.999679	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88949	0.3385	10	0.87932	D	0	.	15.2111	0.73225	0.0:0.0:0.0:1.0	.	240;240	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	T	240;240;240;240;147	ENSP00000333942:K240T;ENSP00000265529:K240T;ENSP00000414987:K240T;ENSP00000391100:K240T;ENSP00000292334:K147T	ENSP00000265529:K240T	K	-	2	0	KIF9	47283519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.547000	0.67249	2.265000	0.75225	0.533000	0.62120	AAA	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257475.2		-	ENST00000265529.3	Missense_Mutation	SNP	3 : 47308515 - 47308515 G PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	576	81
KLHL22	84861	broad.mit.edu	37	22	20800871	20800871	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:20800871G>A	ENST00000328879.4	-	6	1554	c.1398C>T	c.(1396-1398)taC>taT	p.Y466Y	KLHL22_ENST00000440659.2_Silent_p.Y323Y	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	466					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGCCTGGATCGTAGCAGTGTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													245	189	208			NA	NA	22		NA											NA				20800871		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910	84861	84861		Kelch-like, BTB/POZ domain containing	25888	protein-coding gene	gene with protein product			kelch-like 22 (Drosophila)		NA	12477932	Standard	NM_032775	NM_032775	NA	Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1398C>T	22.37:g.20800871G>A		NA	A8K3Q4|A8MTV3|D3DX30|Q96B68|Q96KC6	37	CCDS13780.1																																																																																			KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320045.2		-	ENST00000328879.4	Silent	SNP	22 : 20800871 - 20800871 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	661	5
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	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-A7OP-Tumor-SM-5437A	86	68
L3MBTL2	83746	broad.mit.edu	37	22	41621925	41621925	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:41621925T>C	ENST00000216237.5	+	12	1642	c.1484T>C	c.(1483-1485)aTt>aCt	p.I495T		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	495					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGAATGACATTGAGCTCACA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	67	75			NA	NA	22		NA											NA				41621925		2203	4300	6503	SO:0001583	missense			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395	83746	83746			18594	protein-coding gene	gene with protein product		611865			NA	11682070	Standard	NM_031488	NM_031488	NA	Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1484T>C	22.37:g.41621925T>C	ENSP00000216237:p.Ile495Thr	NA	Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	37	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501313	0.85176	.	.	ENSG00000100395	ENST00000216237	T	0.43688	0.94	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.66479	0.2793	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	T	0.69143	-0.5223	10	0.40728	T	0.16	.	14.782	0.69774	0.0:0.0:0.0:1.0	.	495;495	Q969R5-3;Q969R5	.;LMBL2_HUMAN	T	495	ENSP00000216237:I495T	ENSP00000216237:I495T	I	+	2	0	L3MBTL2	39951871	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.840000	0.86819	1.897000	0.54924	0.459000	0.35465	ATT	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320613.1		+	ENST00000216237.5	Missense_Mutation	SNP	22 : 41621925 - 41621925 C PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	293	114
LRG1	116844	broad.mit.edu	37	19	4538264	4538264	+	Silent	SNP	G	G	A	rs142530537	by1000genomes	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:4538264G>A	ENST00000306390.6	-	2	1192	c.732C>T	c.(730-732)aaC>aaT	p.N244N	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	244						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTGTTGCCGTTCAGGAAGA	0.592		NA												1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	LOWCOV,EXOME	NA	NA	0.0011	SNP								NA				0								G		0,4406		0,0,2203	163	178	173		732	-10.5	0	19	dbSNP_134	173	3,8597		0,3,4297	no	coding-synonymous	LRG1	NM_052972.2		0,3,6500	AA,AG,GG	NA	0.0349,0.0,0.0231		244/348	4538264	3,13003	2203	4300	6503	SO:0001819	synonymous_variant				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236	116844	116844			29480	protein-coding gene	gene with protein product	leucine rich alpha 2 glycoprotein	611289			NA	3856868, 12223515	Standard	NM_052972	NM_052972	NA	Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.732C>T	19.37:g.4538264G>A		NA	Q8N4F5|Q96QZ4	37	CCDS12130.1																																																																																			LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458654.2		-	ENST00000306390.6	Silent	SNP	19 : 4538264 - 4538264 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1597	9
LRP2	4036	broad.mit.edu	37	2	170115538	170115538	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:170115538G>A	ENST00000443831.1	-	15	2233	c.2099C>T	c.(2098-2100)gCc>gTc	p.A700V	LRP2_ENST00000263816.3_Missense_Mutation_p.A837V			P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	837	EGF-like 3.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACTTACCCGGCAAAAGGATG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	114	115			NA	NA	2		NA											NA				170115538		2203	4300	6503	SO:0001583	missense				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479	4036	4036		Low density lipoprotein receptors	6694	protein-coding gene	gene with protein product	megalin	600073			NA	7959795	Standard	NM_004525	NM_004525	NA	Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000443831.1:c.2099C>T	2.37:g.170115538G>A	ENSP00000409813:p.Ala700Val	NA	O00711|Q16215	37		.	.	.	.	.	.	.	.	.	.	G	9.483	1.098743	0.20552	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.91295	-2.82;-2.82	5.77	3.73	0.42828	Six-bladed beta-propeller, TolB-like (1);	0.770796	0.12440	N	0.468797	D	0.86239	0.5885	M	0.67953	2.075	0.27234	N	0.959321	B;B	0.29552	0.248;0.209	B;B	0.28553	0.091;0.035	T	0.75777	-0.3198	10	0.33141	T	0.24	.	1.5273	0.02528	0.4359:0.0:0.2681:0.296	.	700;837	E9PC35;P98164	.;LRP2_HUMAN	V	837;700	ENSP00000263816:A837V;ENSP00000409813:A700V	ENSP00000263816:A837V	A	-	2	0	LRP2	169823784	0.999000	0.42202	0.452000	0.26994	0.191000	0.23601	3.640000	0.54350	0.669000	0.31146	0.591000	0.81541	GCC	LRP2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000337306.1		-	ENST00000443831.1	Missense_Mutation	SNP	2 : 170115538 - 170115538 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	560	5
LRRC41	10489	broad.mit.edu	37	1	46745230	46745230	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:46745230C>T	ENST00000343304.6	-	8	2362	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	693								p.E693Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCAACCATCTCAGGCAGAAAT	0.547		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)											102	116	111			NA	NA	1		NA											NA				46745230		2203	4300	6503	SO:0001583	missense			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128	10489	10489			16917	protein-coding gene	gene with protein product					NA	11384984	Standard	NM_006369	XM_005270376	NA	Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.2077G>A	1.37:g.46745230C>T	ENSP00000343298:p.Glu693Lys	NA	A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	37	CCDS533.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758208	0.31137	.	.	ENSG00000132128	ENST00000343304	T	0.53206	0.63	4.57	3.57	0.40892	.	0.202217	0.34291	N	0.004100	T	0.26011	0.0634	N	0.08118	0	0.34421	D	0.697446	B;B	0.23891	0.093;0.009	B;B	0.17433	0.018;0.008	T	0.28902	-1.0029	10	0.23891	T	0.37	-1.5883	13.1628	0.59554	0.0:0.9094:0.0:0.0906	.	693;693	Q15345-3;Q15345	.;LRC41_HUMAN	K	693	ENSP00000343298:E693K	ENSP00000343298:E693K	E	-	1	0	LRRC41	46517817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.622000	0.46427	2.368000	0.80403	0.561000	0.74099	GAG	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021438.1		-	ENST00000343304.6	Missense_Mutation	SNP	1 : 46745230 - 46745230 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	509	7
MAPRE3	22924	broad.mit.edu	37	2	27248501	27248501	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:27248501C>T	ENST00000233121.2	+	5	718	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	MAPRE3_ENST00000402218.1_Missense_Mutation_p.R159W|MAPRE3_ENST00000405074.3_Missense_Mutation_p.R159W			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	174					cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCTCTGGCCGGCTGAGCAA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	60	61			NA	NA	2		NA											NA				27248501		2203	4300	6503	SO:0001583	missense			Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764	22924	22924			6892	protein-coding gene	gene with protein product		605788			NA	9233623	Standard	NM_012326	NM_012326	NA	Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.520C>T	2.37:g.27248501C>T	ENSP00000233121:p.Arg174Trp	NA	B7WPK5|O00265|Q6FI15|Q9BZP7|Q9BZP8	37	CCDS1731.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.028586	0.75390	.	.	ENSG00000084764	ENST00000233121;ENST00000405074;ENST00000458529;ENST00000402218	T;T;T;T	0.48201	0.82;0.82;0.86;0.82	4.95	4.95	0.65309	.	0.309930	0.30260	N	0.010038	T	0.57344	0.2047	L	0.59436	1.845	0.58432	D	0.999999	D;B	0.64830	0.994;0.029	P;B	0.51999	0.687;0.008	T	0.62987	-0.6737	10	0.72032	D	0.01	-10.2383	16.97	0.86296	0.0:1.0:0.0:0.0	.	159;174	Q9UPY8-2;Q9UPY8	.;MARE3_HUMAN	W	174;159;174;159	ENSP00000233121:R174W;ENSP00000383915:R159W;ENSP00000391705:R174W;ENSP00000385715:R159W	ENSP00000233121:R174W	R	+	1	2	MAPRE3	27102005	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.666000	0.46799	2.310000	0.77875	0.556000	0.70494	CGG	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214183.1		+	ENST00000233121.2	Missense_Mutation	SNP	2 : 27248501 - 27248501 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	487	26
MCPH1	79648	broad.mit.edu	37	8	6301971	6301971	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:6301971G>T	ENST00000344683.5	+	8	804	c.728G>T	c.(727-729)gGa>gTa	p.G243V	MCPH1_ENST00000519480.1_Missense_Mutation_p.G243V|MCPH1_ENST00000522905.1_Missense_Mutation_p.G195V	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	243						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GGAAACTCAGGATGTGGAAAT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(95;1448 1467 8277 34473 35819)							NA				0													130	122	124			NA	NA	8		NA											NA				6301971		1865	4104	5969	SO:0001583	missense			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316	79648	79648			6954	protein-coding gene	gene with protein product	BRCT-repeat inhibitor of TERT expression 1	607117	microcephaly, primary autosomal recessive 1		NA	9683597, 17925396	Standard	NM_024596	NM_024596	NA	Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.728G>T	8.37:g.6301971G>T	ENSP00000342924:p.Gly243Val	NA	Q66GU1|Q9H9C7	37	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968033	0.53507	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.12361	2.69;2.69;2.69	4.15	-5.5	0.02576	.	2.693600	0.00817	N	0.001556	T	0.18923	0.0454	M	0.65975	2.015	0.09310	N	1	P;P;P	0.42518	0.782;0.754;0.627	B;P;B	0.47603	0.42;0.551;0.343	T	0.37820	-0.9689	10	0.56958	D	0.05	-0.9339	1.6608	0.02792	0.4421:0.2628:0.1627:0.1323	.	195;243;243	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	V	243;243;195	ENSP00000342924:G243V;ENSP00000430962:G243V;ENSP00000430768:G195V	ENSP00000342924:G243V	G	+	2	0	MCPH1	6289379	0.000000	0.05858	0.000000	0.03702	0.479000	0.33129	-0.868000	0.04236	-1.093000	0.03058	-0.835000	0.03068	GGA	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374532.2		+	ENST00000344683.5	Missense_Mutation	SNP	8 : 6301971 - 6301971 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	492	101
MEGF6	1953	broad.mit.edu	37	1	3407102	3407102	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:3407102G>A	ENST00000356575.4	-	37	4842	c.4616C>T	c.(4615-4617)gCg>gTg	p.A1539V	MEGF6_ENST00000294599.4_Missense_Mutation_p.A1227V	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1539						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CTAGTGCCTCGCTGGTCCACC	0.672		NA											G	1	5e-04	0.002	NA	2184	NA	0.9997	,	,	NA	3e-04	NA	NA	NA	6e-04	0.7844	EXOME	NA	NA	7e-04	SNP	Ovarian(73;978 3658)							NA				0													29	37	35			NA	NA	1		NA											NA				3407102		1971	4145	6116	SO:0001583	missense			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591	1953	1953			3232	protein-coding gene	gene with protein product		604266	EGF-like-domain, multiple 3	EGFL3	NA	9693030	Standard	NM_001409	NM_001409	NA	Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.4616C>T	1.37:g.3407102G>A	ENSP00000348982:p.Ala1539Val	NA	Q4AC86|Q5VV39	37	CCDS41237.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.095	0.775361	0.16051	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.87809	-2.3;-1.88	3.16	-0.829	0.10796	.	.	.	.	.	T	0.72095	0.3418	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.59867	-0.7373	9	0.87932	D	0	.	2.7367	0.05242	0.4:0.0:0.3355:0.2644	.	1539;1227	O75095;O75095-2	MEGF6_HUMAN;.	V	1227;1539	ENSP00000294599:A1227V;ENSP00000348982:A1539V	ENSP00000294599:A1227V	A	-	2	0	MEGF6	3396962	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.748000	0.04818	-0.156000	0.11079	-0.229000	0.12294	GCG	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354866.1		-	ENST00000356575.4	Missense_Mutation	SNP	1 : 3407102 - 3407102 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	154	10
MLK4	0	broad.mit.edu	37	1	233489603	233489603	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:233489603G>A	ENST00000366624.3	+	3	1298	c.1037G>A	c.(1036-1038)gGc>gAc	p.G346D	MLK4_ENST00000366623.3_Missense_Mutation_p.G346D	NM_032435.2	NP_115811.2				NA											NA						CCCTATCGGGGCATTGATGGC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	103	106			NA	NA	1		NA											NA				233489603		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000366624.3:c.1037G>A	1.37:g.233489603G>A	ENSP00000355583:p.Gly346Asp	NA		37	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817960	0.71028	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	D;D	0.90133	-2.62;-2.62	4.91	4.91	0.64330	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92034	0.7476	L	0.39085	1.19	0.80722	D	1	D;D	0.56287	0.975;0.963	D;P	0.63877	0.919;0.767	D	0.90114	0.4194	10	0.26408	T	0.33	.	18.301	0.90163	0.0:0.0:1.0:0.0	.	346;346	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	D	346	ENSP00000355582:G346D;ENSP00000355583:G346D	ENSP00000355582:G346D	G	+	2	0	RP5-862P8.2	231556226	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	9.648000	0.98483	2.538000	0.85594	0.563000	0.77884	GGC	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092495.1		+	ENST00000366624.3	Missense_Mutation	SNP	1 : 233489603 - 233489603 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	879	33
MMRN1	22915	broad.mit.edu	37	4	90857205	90857205	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:90857205G>A	ENST00000508372.1	+	6	1884	c.1600G>A	c.(1600-1602)Gac>Aac	p.D534N	MMRN1_ENST00000264790.2_Missense_Mutation_p.D792N|MMRN1_ENST00000394980.1_Missense_Mutation_p.D792N|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	792					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTTGGTCAATGACAATCAGAG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	54	54			NA	NA	4		NA											NA				90857205		2203	4298	6501	SO:0001583	missense			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722	22915	22915		EMI domain containing	7178	protein-coding gene	gene with protein product	glycoprotein Ia*	601456	multimerin	MMRN	NA	7629143, 10828608	Standard	NM_007351	NM_007351	NA	Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000508372.1:c.1600G>A	4.37:g.90857205G>A	ENSP00000426461:p.Asp534Asn	NA	Q4W5L1|Q6P3T8|Q6ZUL9	37		.	.	.	.	.	.	.	.	.	.	G	7.845	0.722719	0.15439	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.66280	0.14;0.14;-0.2	4.97	4.12	0.48240	.	0.395362	0.25598	N	0.029561	T	0.51024	0.1650	L	0.43152	1.355	0.80722	D	1	B	0.25521	0.128	B	0.19666	0.026	T	0.44498	-0.9324	10	0.19147	T	0.46	.	12.8581	0.57897	0.0787:0.0:0.9213:0.0	.	792	Q13201	MMRN1_HUMAN	N	792;792;534	ENSP00000378431:D792N;ENSP00000264790:D792N;ENSP00000426461:D534N	ENSP00000264790:D792N	D	+	1	0	MMRN1	91076228	0.832000	0.29368	0.981000	0.43875	0.275000	0.26752	1.431000	0.34925	1.375000	0.46248	0.650000	0.86243	GAC	MMRN1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364071.1		+	ENST00000508372.1	Missense_Mutation	SNP	4 : 90857205 - 90857205 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	306	10
MRC2	9902	broad.mit.edu	37	17	60754766	60754766	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:60754766G>A	ENST00000303375.5	+	12	2373	c.1971G>A	c.(1969-1971)ccG>ccA	p.P657P		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	657					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGGAGCTGCCGGGGCCAGATC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T		0,4378		0,0,2189	14	16	15		1971	-8.1	0.2	17		15	1,8567		0,1,4283	no	coding-synonymous	MRC2	NM_006039.3		0,1,6472	AA,AG,GG	NA	0.0117,0.0,0.0077		657/1480	60754766	1,12945	2189	4284	6473	SO:0001819	synonymous_variant			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028	9902	9902		CD molecules, C-type lectin domain containing	16875	protein-coding gene	gene with protein product		612264			NA	9734811, 8702911	Standard		NM_006039	NA	Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.1971G>A	17.37:g.60754766G>A		NA	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	37	CCDS11634.1																																																																																			MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445152.1		+	ENST00000303375.5	Silent	SNP	17 : 60754766 - 60754766 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	113	42
MUC17	140453	broad.mit.edu	37	7	100683689	100683689	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:100683689C>T	ENST00000306151.4	+	3	9056	c.8992C>T	c.(8992-8994)Ccg>Tcg	p.P2998S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2998	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCATGCCGGTGGCCAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													250	262	258			NA	NA	7		NA											NA				100683689		2203	4300	6503	SO:0001583	missense			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876	140453	140453		Mucins	16800	protein-coding gene	gene with protein product		608424			NA	11855812	Standard	NM_001040105	NM_001040105	NA	Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8992C>T	7.37:g.100683689C>T	ENSP00000302716:p.Pro2998Ser	NA	O14761|Q685J2|Q8TDH7	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.230	-1.021399	0.02061	.	.	ENSG00000169876	ENST00000306151	T	0.06608	3.28	.	.	.	.	.	.	.	.	T	0.05686	0.0149	N	0.17082	0.46	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.06935	-1.0799	7	0.09084	T	0.74	.	.	.	.	.	2998	Q685J3	MUC17_HUMAN	S	2998	ENSP00000302716:P2998S	ENSP00000302716:P2998S	P	+	1	0	MUC17	100470409	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-4.091000	0.00297	-1.495000	0.01831	-1.492000	0.00969	CCG	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347161.1		+	ENST00000306151.4	Missense_Mutation	SNP	7 : 100683689 - 100683689 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1947	10
MVP	9961	broad.mit.edu	37	16	29848107	29848107	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:29848107G>T	ENST00000357402.5	+	7	875	c.737G>T	c.(736-738)gGg>gTg	p.G246V	MVP_ENST00000395353.1_Missense_Mutation_p.G246V|MVP_ENST00000452209.2_Missense_Mutation_p.W60C	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	246					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CGCCGCACTGGGGAGGAGTGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	46	46			NA	NA	16		NA											NA				29848107		2197	4300	6497	SO:0001583	missense			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364	9961	9961			7531	protein-coding gene	gene with protein product	lung resistance-related protein	605088			NA	7585126	Standard	NM_005115	NM_005115	NA	Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.737G>T	16.37:g.29848107G>T	ENSP00000349977:p.Gly246Val	NA	Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	37	CCDS10656.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.48|15.48	2.845998|2.845998	0.51164|0.51164	.|.	.|.	ENSG00000013364|ENSG00000013364	ENST00000357402;ENST00000395353|ENST00000452209	T;T|T	0.50277|0.64991	0.75;0.75|-0.13	5.47|5.47	4.51|4.51	0.55191|0.55191	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81331|0.81331	0.4800|0.4800	M|M	0.92833|0.92833	3.35|3.35	0.50039|0.50039	D|D	0.999845|0.999845	D|.	0.89917|.	1.0|.	D|.	0.78314|.	0.991|.	D|D	0.85667|0.85667	0.1292|0.1292	10|7	0.87932|0.87932	D|D	0|0	-13.119|-13.119	12.5533|12.5533	0.56240|0.56240	0.0817:0.0:0.9183:0.0|0.0817:0.0:0.9183:0.0	.|.	246|.	Q14764|.	MVP_HUMAN|.	V|C	246|60	ENSP00000349977:G246V;ENSP00000378760:G246V|ENSP00000387916:W60C	ENSP00000349977:G246V|ENSP00000387916:W60C	G|W	+|+	2|3	0|0	MVP|MVP	29755608|29755608	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.950000|0.950000	0.60333|0.60333	7.661000|7.661000	0.83786|0.83786	1.435000|1.435000	0.47434|0.47434	0.462000|0.462000	0.41574|0.41574	GGG|TGG	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109711.3		+	ENST00000357402.5	Missense_Mutation	SNP	16 : 29848107 - 29848107 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	328	25
MYH14	79784	broad.mit.edu	37	19	50781417	50781417	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:50781417G>A	ENST00000601313.1	+	30	3933	c.3903G>A	c.(3901-3903)ctG>ctA	p.L1301L	MYH14_ENST00000262269.8_Silent_p.L1301L|MYH14_ENST00000425460.1_Silent_p.L1268L|MYH14_ENST00000440075.2_Silent_p.L1301L|MYH14_ENST00000596571.1_Silent_p.L1260L|MYH14_ENST00000376970.2_Silent_p.L1293L|MYH14_ENST00000598205.1_Silent_p.L1268L	NM_001145809.1	NP_001139281.1	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1260					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGAGCAGCCTGCAGACTGCAC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	28	26			NA	NA	19		NA											NA				50781417		2052	4204	6256	SO:0001819	synonymous_variant			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357	79784	79784		Myosins / Myosin superfamily : Class II	23212	protein-coding gene	gene with protein product		608568	myosin, heavy polypeptide 14, myosin, heavy chain 14	DFNA4	NA	12909352, 15015131, 17940200	Standard	NM_024729	NM_024729	NA	Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000601313.1:c.3903G>A	19.37:g.50781417G>A		NA	B0I1S2|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	37	CCDS54295.1																																																																																			MYH14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464709.2		+	ENST00000601313.1	Silent	SNP	19 : 50781417 - 50781417 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	139	4
NDUFAF6	137682	broad.mit.edu	37	8	95942776	95942776	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:95942776G>A	ENST00000396113.1	+	2	115				TP53INP1_ENST00000448464.2_3'UTR|TP53INP1_ENST00000378776.4_Silent_p.C163C|TP53INP1_ENST00000342697.4_Silent_p.C218C			Q330K2	CH038_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	NA					biosynthetic process	mitochondrion	transferase activity	p.C218C(2)			NA						GCCGAGGGTGGCAATCCCTGG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	prostate(1)|kidney(1)											199	207	204			NA	NA	8		NA											NA				95942776		2203	4300	6503	SO:0001627	intron_variant			BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170	137682	137682		Mitochondrial respiratory chain complex assembly factors	28625	protein-coding gene	gene with protein product		612392	chromosome 8 open reading frame 38	C8orf38	NA	22019594, 23509070	Standard	NM_152416	NM_152416	NA	Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396113.1:c.-935-14935G>A	8.37:g.95942776G>A		NA	A8MT28|A8MWF0|Q8N6U6	37																																																																																				NDUFAF6-003	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000316699.1		+	ENST00000396113.1	Intron	SNP	8 : 95942776 - 95942776 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	926	6
NELFE	7936	broad.mit.edu	37	6	31922199	31922199	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:31922199G>A	ENST00000375429.3	-	8	989	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	NELFE_ENST00000375425.5_Missense_Mutation_p.R262W|NELFE_ENST00000444811.2_Missense_Mutation_p.R225W	NM_002904.5	NP_002895.3			negative elongation factor complex member E	NA											NA						GGGGCTCGCCGTTCAGGGAAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	86	88			NA	NA	6		NA											NA				31922199		2203	4300	6503	SO:0001583	missense			M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356	7936	7936		RNA binding motif (RRM) containing	13974	protein-coding gene	gene with protein product		154040	RD RNA-binding protein, RD RNA binding protein	RDBP	NA		Standard		XM_006715205	NA	Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.763C>T	6.37:g.31922199G>A	ENSP00000364578:p.Arg255Trp	NA		37	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811057	0.70797	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811;ENST00000441998;ENST00000454913;ENST00000436289	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.42	4.36	0.52297	Nucleotide-binding, alpha-beta plait (1);	0.112301	0.64402	D	0.000012	T	0.38161	0.1030	L	0.38175	1.15	0.45194	D	0.998201	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.56474	0.799;0.799;0.799	T	0.27806	-1.0063	10	0.66056	D	0.02	-11.4519	13.973	0.64252	0.0885:0.0:0.9115:0.0	.	225;250;255	B4DUN1;E9PCL7;P18615	.;.;NELFE_HUMAN	W	255;262;225;250;255;250	ENSP00000364578:R255W;ENSP00000364574:R262W;ENSP00000388400:R225W;ENSP00000397914:R250W;ENSP00000409389:R255W	ENSP00000364574:R262W	R	-	1	2	RDBP	32030178	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	4.032000	0.57274	2.549000	0.85964	0.655000	0.94253	CGG	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076047.4		-	ENST00000375429.3	Missense_Mutation	SNP	6 : 31922199 - 31922199 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	521	5
NLRP2	55655	broad.mit.edu	37	19	55494011	55494011	+	Silent	SNP	C	C	T	rs139643111		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:55494011C>T	ENST00000543010.1	+	6	1088	c.945C>T	c.(943-945)ccC>ccT	p.P315P	NLRP2_ENST00000391721.4_Silent_p.P291P|NLRP2_ENST00000538819.1_Silent_p.P291P|NLRP2_ENST00000427260.2_Silent_p.P292P|NLRP2_ENST00000263437.6_Silent_p.P312P|NLRP2_ENST00000448584.2_Silent_p.P315P|NLRP2_ENST00000537859.1_Silent_p.P293P|NLRP2_ENST00000339757.7_Silent_p.P293P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	315	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGCCGGTGCCCGTCCTCCTGG	0.637		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	47	43	44		945,879,876,945	-3.1	0	19	dbSNP_134	44	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	,,,	0,3,6500	TT,TC,CC	NA	0.0349,0.0,0.0231	,,,	315/1063,293/1041,292/1040,315/1063	55494011	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556	55655	55655		Nucleotide-binding domain and leucine rich repeat containing	22948	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2	609364	NACHT, leucine rich repeat and PYD containing 2	NALP2	NA	12563287, 11270363	Standard	NM_017852	NM_001174081	NA	Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.945C>T	19.37:g.55494011C>T		NA	Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	37	CCDS12913.1																																																																																			NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396152.1		+	ENST00000543010.1	Silent	SNP	19 : 55494011 - 55494011 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	472	30
NOL4	8715	broad.mit.edu	37	18	31709908	31709908	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:31709908G>A	ENST00000261592.5	-	2	638	c.341C>T	c.(340-342)tCg>tTg	p.S114L	NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000538587.1_Missense_Mutation_p.S40L|NOL4_ENST00000589544.1_Missense_Mutation_p.S114L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	114						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CACATGCATCGAATAAATAAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	111	116			NA	NA	18		NA											NA				31709908		2203	4300	6503	SO:0001583	missense			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746	8715	8715			7870	protein-coding gene	gene with protein product	cancer/testis antigen 125	603577			NA	9813152	Standard	NM_003787	NM_003787	NA	Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.341C>T	18.37:g.31709908G>A	ENSP00000261592:p.Ser114Leu	NA	Q6IBS2|Q9BWF1	37	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	33	5.198531	0.94997	.	.	ENSG00000101746	ENST00000261592;ENST00000538587	D	0.82984	-1.67	5.72	5.72	0.89469	.	.	.	.	.	D	0.84826	0.5558	L	0.46157	1.445	0.80722	D	1	D;D;D	0.60575	0.988;0.988;0.988	P;P;P	0.50617	0.646;0.569;0.569	D	0.86139	0.1580	9	0.72032	D	0.01	-2.6538	18.866	0.92292	0.0:0.0:1.0:0.0	.	40;114;114	B4DSQ0;O94818;O94818-2	.;NOL4_HUMAN;.	L	114;40	ENSP00000261592:S114L	ENSP00000261592:S114L	S	-	2	0	NOL4	29963906	1.000000	0.71417	0.976000	0.42696	0.985000	0.73830	9.268000	0.95675	2.710000	0.92621	0.585000	0.79938	TCG	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255386.1		-	ENST00000261592.5	Missense_Mutation	SNP	18 : 31709908 - 31709908 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	644	166
NOL8	55035	broad.mit.edu	37	9	95077502	95077502	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:95077502C>T	ENST00000535387.1	-	6	1404	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	NOL8_ENST00000442668.2_Missense_Mutation_p.E469K|NOL8_ENST00000542053.1_Missense_Mutation_p.E401K|NOL8_ENST00000545558.1_Missense_Mutation_p.E469K|NOL8_ENST00000358855.4_Missense_Mutation_p.E401K			Q76FK4	NOL8_HUMAN	nucleolar protein 8	469					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCACCTCCTTCAGAGTCAGCT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	59	60			NA	NA	9		NA											NA				95077502		1910	4144	6054	SO:0001583	missense			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000	55035	55035		RNA binding motif (RRM) containing	23387	protein-coding gene	gene with protein product		611534	chromosome 9 open reading frame 34	C9orf34	NA	12477932	Standard	NM_017948	NM_017948	NA	Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1405G>A	9.37:g.95077502C>T	ENSP00000441300:p.Glu469Lys	NA	Q5TCC7|Q5TCC8|Q5TCD3|Q5TCD5|Q5TCD6|Q5TCD7|Q76D35|Q7L3E2|Q9H586|Q9H795|Q9H7W7|Q9H9J6|Q9NWA4|Q9NWM4	37	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774843	0.31411	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.19669	2.41;2.42;2.41;2.62;2.42;2.13	5.69	4.79	0.61399	.	0.395189	0.30593	N	0.009286	T	0.23370	0.0565	L	0.38175	1.15	0.30787	N	0.741381	D	0.53619	0.961	P	0.47206	0.541	T	0.10894	-1.0610	10	0.72032	D	0.01	-10.2418	13.4958	0.61426	0.2841:0.7158:0.0:0.0	.	469	Q76FK4	NOL8_HUMAN	K	469;471;401;469;469;401;469	ENSP00000401177:E469K;ENSP00000351723:E401K;ENSP00000441140:E469K;ENSP00000441300:E469K;ENSP00000440709:E401K;ENSP00000414112:E469K	ENSP00000351723:E401K	E	-	1	0	NOL8	94117323	0.003000	0.15002	0.016000	0.15963	0.385000	0.30292	0.380000	0.20602	1.385000	0.46445	0.655000	0.94253	GAA	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053082.2		-	ENST00000535387.1	Missense_Mutation	SNP	9 : 95077502 - 95077502 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	295	117
NPR2	4882	broad.mit.edu	37	9	35800075	35800075	+	Silent	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:35800075G>T	ENST00000342694.2	+	4	1299	c.1044G>T	c.(1042-1044)ctG>ctT	p.L348L		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	348					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTGAAGTCCTGAATGAGACAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	157	158			NA	NA	9		NA											NA				35800075		2203	4300	6503	SO:0001819	synonymous_variant			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899	4882	4882			7944	protein-coding gene	gene with protein product	guanylate cyclase B	108961	acromesomelic dysplasia, Maroteaux type, atrionatriuretic peptide receptor B, natriuretic peptide receptor B	ANPRB, NPRB, AMDM	NA	9634515, 15146390	Standard		XM_005251478	NA	Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.1044G>T	9.37:g.35800075G>T		NA	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	37	CCDS6590.1																																																																																			NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052345.1		+	ENST00000342694.2	Silent	SNP	9 : 35800075 - 35800075 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	897	55
NRAP	4892	broad.mit.edu	37	10	115364582	115364582	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:115364582C>T	ENST00000359988.3	-	35	4257	c.4013G>A	c.(4012-4014)gGc>gAc	p.G1338D	NRAP_ENST00000360478.3_Missense_Mutation_p.G1303D|NRAP_ENST00000369358.4_Missense_Mutation_p.G1346D|NRAP_ENST00000369360.3_Missense_Mutation_p.G1311D	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1338						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTGCAGCTGGCCCATGCGCCG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	81	80			NA	NA	10		NA											NA				115364582		2203	4300	6503	SO:0001583	missense				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893	4892	4892			7988	protein-coding gene	gene with protein product		602873			NA	12789664, 10320340	Standard	NM_006175	NM_006175	NA	Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4013G>A	10.37:g.115364582C>T	ENSP00000353078:p.Gly1338Asp	NA	O15500|Q5VWI3|Q5VWI4|Q6MZK3|Q6N026|Q6N059|Q6NSH8|Q6PDB0|Q719H6|Q86TC5|Q86TD6|Q86TE6|Q86VF6|Q8N3R6|Q8N8F9|Q8TCH0|Q96MG4	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210899	0.79240	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.68	5.68	0.88126	.	0.051170	0.85682	D	0.000000	T	0.52917	0.1764	M	0.69358	2.11	0.51767	D	0.999938	B;D;D;D	0.67145	0.012;0.996;0.995;0.992	B;D;D;D	0.73380	0.004;0.955;0.98;0.955	T	0.51180	-0.8738	10	0.54805	T	0.06	.	14.2644	0.66107	0.0:0.734:0.266:0.0	.	496;1338;1303;1338	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	D	1346;1311;1338;1303;496	ENSP00000358365:G1346D;ENSP00000358367:G1311D;ENSP00000353078:G1338D;ENSP00000353666:G1303D	ENSP00000353078:G1338D	G	-	2	0	NRAP	115354572	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.780000	0.38634	2.691000	0.91804	0.650000	0.86243	GGC	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050425.2		-	ENST00000359988.3	Missense_Mutation	SNP	10 : 115364582 - 115364582 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	930	6
NRXN2	9379	broad.mit.edu	37	11	64428311	64428311	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:64428311C>T	ENST00000377559.3	-	9	2467	c.2006G>A	c.(2005-2007)cGc>cAc	p.R669H	NRXN2_ENST00000265459.6_Missense_Mutation_p.R700H|NRXN2_ENST00000377551.1_Missense_Mutation_p.R700H|NRXN2_ENST00000409571.1_Missense_Mutation_p.R693H|NRXN2_ENST00000496291.1_5'UTR	NM_138732.2	NP_620060.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	700	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCCCCCATTGCGACAGGGGGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG	0,4402		0,0,2201	72	70	71		2099,2006	4.4	1	11		71	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	NRXN2	NM_015080.3,NM_138732.2	29,29	0,1,6497	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	700/1713,669/1643	64428311	1,12995	2201	4297	6498	SO:0001583	missense				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076	9379	9379			8009	protein-coding gene	gene with protein product	neurexin II	600566			NA	1621094	Standard	NM_015080	NM_015080	NA	Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377559.3:c.2006G>A	11.37:g.64428311C>T	ENSP00000366782:p.Arg669His	NA	A7E2C1|Q9Y2D6	37	CCDS31597.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141704	0.37825	0.0	1.16E-4	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.38	4.38	0.52667	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.148030	0.27636	U	0.018492	T	0.50257	0.1605	N	0.13003	0.285	0.35368	D	0.788822	B;B;D	0.61080	0.046;0.071;0.989	B;B;P	0.47162	0.013;0.018;0.54	T	0.62784	-0.6781	10	0.40728	T	0.16	.	14.4926	0.67663	0.0:1.0:0.0:0.0	.	669;700;446	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	H	700;669;700;669;693	ENSP00000366774:R700H;ENSP00000366782:R669H;ENSP00000265459:R700H;ENSP00000386416:R693H	ENSP00000265459:R700H	R	-	2	0	NRXN2	64184887	0.000000	0.05858	0.998000	0.56505	0.811000	0.45836	0.031000	0.13710	2.266000	0.75297	0.555000	0.69702	CGC	NRXN2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141951.1		-	ENST00000377559.3	Missense_Mutation	SNP	11 : 64428311 - 64428311 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	292	6
NSL1	25936	broad.mit.edu	37	1	212911779	212911779	+	Missense_Mutation	SNP	G	G	A	rs147647532		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:212911779G>A	ENST00000366977.3	-	6	835	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	NSL1_ENST00000366975.6_Missense_Mutation_p.R232W|NSL1_ENST00000366978.1_Intron|NSL1_ENST00000422588.2_3'UTR	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	273					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		TTCTTTGGCCGCAATGGATAC	0.388		NA											G	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	2e-04	0.0013	NA	NA	5e-04	0.9181	EXOME	NA	NA	2e-04	SNP								NA				0								G	,TRP/ARG	0,4406		0,0,2203	124	125	125		,817	4.6	0.9	1	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	yes	utr-3,missense	NSL1	NM_001042549.1,NM_015471.3	,101	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,probably-damaging	,273/282	212911779	1,13005	2203	4300	6503	SO:0001583	missense			AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697	25936	25936			24548	protein-coding gene	gene with protein product		609174	chromosome 1 open reading frame 48, NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)	C1orf48	NA	20819937	Standard	NM_015471	NM_015471	NA	Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.817C>T	1.37:g.212911779G>A	ENSP00000355944:p.Arg273Trp	NA	Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	37	CCDS1509.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.87	3.906807	0.72868	0.0	1.16E-4	ENSG00000117697	ENST00000366977;ENST00000366975	T;T	0.40225	1.06;1.04	5.51	4.59	0.56863	.	0.640836	0.15946	N	0.236960	T	0.61098	0.2320	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.65573	0.869;0.936	T	0.63559	-0.6610	10	0.87932	D	0	-7.7411	13.4969	0.61432	0.0:0.0:0.8436:0.1564	.	232;273	B4E071;Q96IY1	.;NSL1_HUMAN	W	273;232	ENSP00000355944:R273W;ENSP00000355942:R232W	ENSP00000355942:R232W	R	-	1	2	NSL1	210978402	0.903000	0.30736	0.875000	0.34327	0.896000	0.52359	1.110000	0.31147	1.447000	0.47661	0.650000	0.86243	CGG	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089398.2		-	ENST00000366977.3	Missense_Mutation	SNP	1 : 212911779 - 212911779 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1222	7
NSUN2	54888	broad.mit.edu	37	5	6605421	6605421	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:6605421G>A	ENST00000506139.1	-	14	1659	c.1597C>T	c.(1597-1599)Cgg>Tgg	p.R533W	NSUN2_ENST00000539938.1_Missense_Mutation_p.R332W|NSUN2_ENST00000264670.6_Missense_Mutation_p.R568W	NM_001193455.1	NP_001180384.1	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	568						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						AGCACATTCCGCAACTCCTTA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	194	195			NA	NA	5		NA											NA				6605421		2203	4300	6503	SO:0001583	missense			AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474	54888	54888		NOP2/Sun domain containing	25994	protein-coding gene	gene with protein product	tRNA methyltransferase 4 homolog (S. cerevisiae), Myc-induced SUN-domain-containing protein	610916	NOL1/NOP2/Sun domain family, member 2, NOP2/Sun domain family, member 2, mental retardation, non-syndromic, autosomal recessive, 5	MRT5	NA	17071714, 22541559	Standard	NM_017755	NM_017755	NA	Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000506139.1:c.1597C>T	5.37:g.6605421G>A	ENSP00000420957:p.Arg533Trp	NA	B2RNR4|Q9BVN4|Q9H858|Q9NXD9	37	CCDS54832.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186816	0.57909	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.65549	-0.16;-0.16;-0.16	5.36	-4.21	0.03812	.	0.047192	0.85682	D	0.000000	T	0.80396	0.4615	M	0.88377	2.95	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.977;0.997	D	0.84366	0.0541	10	0.87932	D	0	-35.1638	19.9151	0.97057	0.0:0.0:0.3569:0.6431	.	533;568	B4DQW2;Q08J23	.;NSUN2_HUMAN	W	568;332;533	ENSP00000264670:R568W;ENSP00000444338:R332W;ENSP00000420957:R533W	ENSP00000264670:R568W	R	-	1	2	NSUN2	6658421	0.723000	0.28027	0.073000	0.20177	0.463000	0.32649	0.158000	0.16422	-0.617000	0.05664	-0.311000	0.09066	CGG	NSUN2-004	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365825.1		-	ENST00000506139.1	Missense_Mutation	SNP	5 : 6605421 - 6605421 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1338	7
OR10K2	391107	broad.mit.edu	37	1	158390071	158390071	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:158390071G>A	ENST00000314902.2	-	1	585	c.586C>T	c.(586-588)Cag>Tag	p.Q196*		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ATGACAATCTGACTAAAGTGG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	133	139			NA	NA	1		NA											NA				158390071		2203	4300	6503	SO:0001587	stop_gained			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708	391107	391107		GPCR / Class A : Olfactory receptors	14826	protein-coding gene	gene with protein product					NA		Standard	NM_001004476	NM_001004476	NA	Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.586C>T	1.37:g.158390071G>A	ENSP00000324251:p.Gln196*	NA		37	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	g	6.590	0.477260	0.12521	.	.	ENSG00000180708	ENST00000314902	.	.	.	4.13	2.14	0.27477	.	0.000000	0.44688	D	0.000432	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.8166	0.08818	0.0921:0.1662:0.5698:0.1718	.	.	.	.	X	196	.	ENSP00000324251:Q196X	Q	-	1	0	OR10K2	156656695	0.011000	0.17503	0.079000	0.20413	0.006000	0.05464	0.554000	0.23407	0.445000	0.26639	-0.532000	0.04303	CAG	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051854.1		-	ENST00000314902.2	Nonsense_Mutation	SNP	1 : 158390071 - 158390071 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	868	207
OR5L1	219437	broad.mit.edu	37	11	55579038	55579038	+	Silent	SNP	T	T	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:55579038T>A	ENST00000333973.2	+	1	185	c.96T>A	c.(94-96)ctT>ctA	p.L32L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGCTGTTCCTTCTCATCTATG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													263	237	246			NA	NA	11		NA											NA				55579038		2200	4296	6496	SO:0001819	synonymous_variant			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117	219437	219437		GPCR / Class A : Olfactory receptors	8350	protein-coding gene	gene with protein product					NA		Standard	NM_001004738	NM_001004738	NA	Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.96T>A	11.37:g.55579038T>A		NA	B2RNK6|Q6IFD0	37	CCDS31509.1																																																																																			OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391514.1		+	ENST00000333973.2	Silent	SNP	11 : 55579038 - 55579038 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1147	99
OR6F1	343169	broad.mit.edu	37	1	247875338	247875338	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:247875338C>T	ENST00000302084.2	-	1	767	c.720G>A	c.(718-720)acG>acA	p.T240T	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCGAGGAGCACGTGGAGAAGG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		5,4401	9.9+/-24.2	0,5,2198	116	106	109		720	-7.4	0	1		109	0,8600		0,0,4300	no	coding-synonymous	OR6F1	NM_001005286.1		0,5,6498	TT,TC,CC	NA	0.0,0.1135,0.0384		240/309	247875338	5,13001	2203	4300	6503	SO:0001819	synonymous_variant			BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214	343169	343169		GPCR / Class A : Olfactory receptors	15027	protein-coding gene	gene with protein product					NA		Standard	NM_001005286	NM_001005286	NA	Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.720G>A	1.37:g.247875338C>T		NA	B2RNV6|Q6IF02|Q96R39	37	CCDS31095.1																																																																																			OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096870.1		-	ENST00000302084.2	Silent	SNP	1 : 247875338 - 247875338 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1076	92
PCDH10	57575	broad.mit.edu	37	4	134073206	134073206	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:134073206G>A	ENST00000264360.5	+	1	2737	c.1911G>A	c.(1909-1911)gaG>gaA	p.E637E		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	NA	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCACCGGGGAGCTGCGCACAG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	35	33			NA	NA	4		NA											NA				134073206		2188	4281	6469	SO:0001819	synonymous_variant			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650	57575	57575		Cadherins / Protocadherins : Non-clustered	13404	protein-coding gene	gene with protein product		608286			NA	10835267	Standard	NM_032961	NM_020815	NA	Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1911G>A	4.37:g.134073206G>A		NA	Q4W5F6	37	CCDS34063.1																																																																																			PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364457.2		+	ENST00000264360.5	Silent	SNP	4 : 134073206 - 134073206 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	250	36
PCDHA12	56137	broad.mit.edu	37	5	140256419	140256419	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:140256419G>A	ENST00000398631.2	+	1	1362	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1			protocadherin alpha 12	NA										NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGCCTGCGTTCGCGCAGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(113;759 1672 13322 24104 50104)							NA				0													107	108	108			NA	NA	5		NA											NA				140256419		2203	4300	6503	SO:0001819	synonymous_variant			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664	56137	56137		Cadherins / Protocadherins : Clustered	8666	other	complex locus constituent	KIAA0345-like 2	606318			NA	10380929	Standard	NM_018903	NM_018903	NA	Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1362G>A	5.37:g.140256419G>A		NA		37	CCDS47285.1																																																																																			PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372882.2		+	ENST00000398631.2	Silent	SNP	5 : 140256419 - 140256419 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	506	407
PCDHB14	56122	broad.mit.edu	37	5	140603142	140603142	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:140603142G>T	ENST00000239449.4	+	1	65	c.65G>T	c.(64-66)gGa>gTa	p.G22V	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	22					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			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)			GTTTTGCTGGGATTGTCTCGG	0.478		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				0													101	99	100			NA	NA	5		NA											NA				140603142		2203	4300	6503	SO:0001583	missense			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.65G>T	5.37:g.140603142G>T	ENSP00000239449:p.Gly22Val	NA	Q4FZA4|Q4KN11	37	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	8.281	0.815658	0.16607	.	.	ENSG00000120327	ENST00000239449	T	0.49432	0.78	4.93	3.12	0.35913	.	.	.	.	.	T	0.37128	0.0992	L	0.49256	1.55	0.09310	N	0.999999	B	0.19817	0.039	B	0.20955	0.032	T	0.24657	-1.0154	9	0.16420	T	0.52	.	6.4783	0.22049	0.1727:0.153:0.6742:0.0	.	22	Q9Y5E9	PCDBE_HUMAN	V	22	ENSP00000239449:G22V	ENSP00000239449:G22V	G	+	2	0	PCDHB14	140583326	0.548000	0.26473	0.999000	0.59377	0.750000	0.42670	0.400000	0.20932	1.209000	0.43321	-0.136000	0.14681	GGA	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251814.2		+	ENST00000239449.4	Missense_Mutation	SNP	5 : 140603142 - 140603142 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	158	130
PDZD2	23037	broad.mit.edu	37	5	32088593	32088593	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:32088593C>T	ENST00000438447.1	+	20	5427	c.5039C>T	c.(5038-5040)gCg>gTg	p.A1680V	PDZD2_ENST00000282493.3_Missense_Mutation_p.A1680V			O15018	PDZD2_HUMAN	PDZ domain containing 2	1680					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAAACTCATGCGGACATAAGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	84	84	84		5039	-7.7	0	5		84	0,8600		0,0,4300	no	missense	PDZD2	NM_178140.2	64	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign	1680/2840	32088593	1,13005	2203	4300	6503	SO:0001583	missense			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401	23037	23037			18486	protein-coding gene	gene with protein product		610697	PDZ domain containing 3	PDZK3	NA	9205841	Standard		XM_005248271	NA	Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5039C>T	5.37:g.32088593C>T	ENSP00000402033:p.Ala1680Val	NA	Q9BXD4	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314406	0.23908	2.27E-4	0.0	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06068	3.35;3.35	5.16	-7.73	0.01245	.	1.746680	0.02740	N	0.116181	T	0.04363	0.0120	L	0.42245	1.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41770	-0.9490	10	0.11485	T	0.65	.	1.9039	0.03273	0.1904:0.299:0.101:0.4097	.	1680	O15018	PDZD2_HUMAN	V	1680;1481;1680	ENSP00000402033:A1680V;ENSP00000282493:A1680V	ENSP00000282493:A1680V	A	+	2	0	PDZD2	32124350	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.537000	0.02206	-2.104000	0.00843	-2.244000	0.00286	GCG	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366608.1		+	ENST00000438447.1	Missense_Mutation	SNP	5 : 32088593 - 32088593 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	992	8
PIK3CA	5290	broad.mit.edu	37	3	178951994	178951994	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:178951994G>A	ENST00000263967.3	+	21	3206	c.3049G>A	c.(3049-3051)Gat>Aat	p.D1017N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1017	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.D1017H(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACAATCTTTTGATGACATTGC	0.393		57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	phosphoinositide-3-kinase, catalytic, alpha polypeptide		E, O	4	Substitution - Missense(4)	central_nervous_system(2)|urinary_tract(1)|endometrium(1)											106	94	98			NA	NA	3		NA											NA				178951994		1879	4117	5996	SO:0001583	missense				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	5290	5290	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	phosphoinositide-3-kinase, catalytic, alpha polypeptide		NA	1322797	Standard		NM_006218	NA	Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3049G>A	3.37:g.178951994G>A	ENSP00000263967:p.Asp1017Asn	NA	Q14CW1|Q99762	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656347	0.88056	.	.	ENSG00000121879	ENST00000263967	T	0.80909	-1.43	6.07	6.07	0.98685	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.84674	0.5524	L	0.38733	1.17	0.80722	D	1	D	0.65815	0.995	P	0.60236	0.871	T	0.82768	-0.0294	10	0.41790	T	0.15	-22.9512	20.6525	0.99598	0.0:0.0:1.0:0.0	.	1017	P42336	PK3CA_HUMAN	N	1017	ENSP00000263967:D1017N	ENSP00000263967:D1017N	D	+	1	0	PIK3CA	180434688	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.301000	0.96167	2.890000	0.99128	0.585000	0.79938	GAT	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348409.2		+	ENST00000263967.3	Missense_Mutation	SNP	3 : 178951994 - 178951994 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	450	183
PIK3CG	5294	broad.mit.edu	37	7	106508584	106508584	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:106508584C>T	ENST00000359195.3	+	2	888	c.578C>T	c.(577-579)cCc>cTc	p.P193L	PIK3CG_ENST00000440650.2_Missense_Mutation_p.P193L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.P193L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	193					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGCCGCGACCCCAAGCTCTAC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	75	74			NA	NA	7		NA											NA				106508584		2203	4300	6503	SO:0001583	missense				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	5294	5294	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	phosphoinositide-3-kinase, catalytic, gamma polypeptide		NA		Standard		XM_005250443	NA	Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.578C>T	7.37:g.106508584C>T	ENSP00000352121:p.Pro193Leu	NA	Q8IV23|Q9BZC8	37	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	8.991	0.977776	0.18812	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70399	-0.48;-0.48;-0.48	5.5	4.61	0.57282	.	0.266178	0.43747	D	0.000530	T	0.61627	0.2362	L	0.42245	1.32	0.58432	D	0.999997	B	0.11235	0.004	B	0.08055	0.003	T	0.57499	-0.7801	10	0.09843	T	0.71	-5.6703	16.5907	0.84764	0.0:0.8695:0.1305:0.0	.	193	P48736	PK3CG_HUMAN	L	193	ENSP00000392258:P193L;ENSP00000419260:P193L;ENSP00000352121:P193L	ENSP00000352121:P193L	P	+	2	0	PIK3CG	106295820	1.000000	0.71417	0.476000	0.27291	0.330000	0.28571	5.891000	0.69782	1.429000	0.47314	0.591000	0.81541	CCC	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349294.1		+	ENST00000359195.3	Missense_Mutation	SNP	7 : 106508584 - 106508584 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	533	32
PIP4K2A	5305	broad.mit.edu	37	10	22862387	22862387	+	Splice_Site	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:22862387C>T	ENST00000376573.4	-	5	721		c.e5-1		PIP4K2A_ENST00000422321.1_Splice_Site|PIP4K2A_ENST00000323883.7_Splice_Site|PIP4K2A_ENST00000545335.1_Splice_Site	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	NA							1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CCACTATGTACTGCATAGGAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	72	76			NA	NA	10		NA											NA				22862387		2203	4300	6503	SO:0001630	splice_region_variant			S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867	5305	5305			8997	protein-coding gene	gene with protein product		603140	phosphatidylinositol-4-phosphate 5-kinase, type II, alpha	PIP5K2A	NA	7852364, 9367159	Standard	NM_005028	NM_005028	NA	Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.493-1G>A	10.37:g.22862387C>T		NA	B0YJ66|D3DRV1|P53807|Q5VUX3	37	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485406	0.84854	.	.	ENSG00000150867	ENST00000376573;ENST00000323883;ENST00000545335;ENST00000422321;ENST00000376565	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7578	0.96301	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIP4K2A	22902393	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.388000	0.79795	2.748000	0.94277	0.655000	0.94253	.	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047193.1	Intron	-	ENST00000376573.4	Splice_Site	SNP	10 : 22862387 - 22862387 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	336	95
PKHD1	5314	broad.mit.edu	37	6	51618013	51618013	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:51618013C>T	ENST00000371117.3	-	57	9211	c.8936G>A	c.(8935-8937)cGa>cAa	p.R2979Q	PKHD1_ENST00000340994.4_Missense_Mutation_p.R2979Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2979					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAATTCTTCTCGGCTGGACTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	88	87			NA	NA	6		NA											NA				51618013		2203	4300	6503	SO:0001583	missense			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927	5314	5314			9016	protein-coding gene	gene with protein product	tigmin, polyductin, fibrocystin	606702	TIG multiple domains 1	TIGM1	NA	9503014	Standard	NM_138694	NM_138694	NA	Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8936G>A	6.37:g.51618013C>T	ENSP00000360158:p.Arg2979Gln	NA	Q5VUA2|Q5VUA3|Q5VWV1|Q8TCZ9	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	2.637	-0.284992	0.05605	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.81739	-1.53;-1.53	5.97	3.22	0.36961	.	0.741936	0.12773	N	0.440333	T	0.35278	0.0926	N	0.14661	0.345	0.09310	N	1	P;B;P	0.41784	0.652;0.096;0.762	B;B;B	0.32149	0.068;0.028;0.141	T	0.23404	-1.0189	10	0.10902	T	0.67	.	8.1549	0.31162	0.1351:0.7287:0.0:0.1363	.	2979;2979;2979	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	Q	2979	ENSP00000360158:R2979Q;ENSP00000341097:R2979Q	ENSP00000341097:R2979Q	R	-	2	0	PKHD1	51725972	0.011000	0.17503	0.005000	0.12908	0.115000	0.19883	2.559000	0.45888	0.410000	0.25675	-0.150000	0.13652	CGA	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040893.1		-	ENST00000371117.3	Missense_Mutation	SNP	6 : 51618013 - 51618013 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	605	241
PLCB2	5330	broad.mit.edu	37	15	40591062	40591062	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:40591062G>A	ENST00000260402.3	-	9	1036	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	PLCB2_ENST00000456256.2_Missense_Mutation_p.R263W|PLCB2_ENST00000557821.1_Missense_Mutation_p.R263W	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	263					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGGTCAGGCCGTGCTGGCGGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	79	76			NA	NA	15		NA											NA				40591062		2036	4181	6217	SO:0001583	missense				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	5330	5330	3.1.4.11		9055	protein-coding gene	gene with protein product		604114			NA	1644792, 9925923	Standard		XM_005254448	NA	Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.787C>T	15.37:g.40591062G>A	ENSP00000260402:p.Arg263Trp	NA	A8K6J2	37	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569821	0.65765	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.44083	0.93;0.93	4.23	4.23	0.50019	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.184362	0.43416	D	0.000566	T	0.54515	0.1863	L	0.53249	1.67	0.25021	N	0.99133	D;D;D	0.89917	0.999;1.0;0.997	P;D;P	0.66497	0.825;0.944;0.783	T	0.45934	-0.9227	10	0.87932	D	0	.	10.3919	0.44175	0.0:0.0:0.6601:0.3399	.	263;263;263	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	W	263	ENSP00000260402:R263W;ENSP00000411991:R263W	ENSP00000260402:R263W	R	-	1	2	PLCB2	38378354	1.000000	0.71417	0.897000	0.35233	0.995000	0.86356	3.917000	0.56424	2.350000	0.79820	0.561000	0.74099	CGG	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418430.1		-	ENST00000260402.3	Missense_Mutation	SNP	15 : 40591062 - 40591062 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	329	24
PLEKHG1	57480	broad.mit.edu	37	6	151161016	151161017	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:151161016_151161017delAG	ENST00000358517.2	+	16	3353_3354	c.3142_3143delAG	c.(3142-3144)agafs	p.R1048fs	PLEKHG1_ENST00000367328.1_Frame_Shift_Del_p.R1048fs			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1048					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GATTGTATTCAGAGAGTCTCCC	0.475		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278	57480	57480		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	20884	protein-coding gene	gene with protein product					NA	10574462	Standard		XM_005267064	NA	Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.3142_3143delAG	6.37:g.151161020_151161021delAG	ENSP00000351318:p.Arg1048fs	NA	Q5T1F2	37	CCDS34552.1																																																																																			PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042691.1		+	ENST00000358517.2	Frame_Shift_Del	DEL	6 : 151161016 - 151161017 - PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	554	209
PODN	127435	broad.mit.edu	37	1	53543466	53543466	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:53543466C>G	ENST00000371500.3	+	9	1276	c.935C>G	c.(934-936)aCc>aGc	p.T312S	PODN_ENST00000395871.2_Missense_Mutation_p.T189S|PODN_ENST00000312553.5_Missense_Mutation_p.T331S|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	283					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GACAACGAGACCTTCTGGTGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	90	88			NA	NA	1		NA											NA				53543466		2203	4300	6503	SO:0001583	missense			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348	127435	127435		Proteoglycans / Extracellular Matrix : Small leucine-rich repeats	23174	protein-coding gene	gene with protein product	podocan proteoglycan	608661			NA		Standard	NM_153703	NM_153703	NA	Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000371500.3:c.935C>G	1.37:g.53543466C>G	ENSP00000360555:p.Thr312Ser	NA	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	37	CCDS55602.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232191	0.79688	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.55234	0.53;0.53;0.53	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	N	0.12961	0.28	0.50813	D	0.999894	P;D;B	0.71674	0.532;0.998;0.332	B;D;P	0.81914	0.413;0.995;0.493	T	0.61192	-0.7112	10	0.40728	T	0.16	.	18.0832	0.89449	0.0:1.0:0.0:0.0	.	189;312;331	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	S	312;189;331	ENSP00000360555:T312S;ENSP00000379212:T189S;ENSP00000308315:T331S	ENSP00000308315:T331S	T	+	2	0	PODN	53316054	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.125000	0.77193	2.477000	0.83638	0.561000	0.74099	ACC	PODN-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092205.1		+	ENST00000371500.3	Missense_Mutation	SNP	1 : 53543466 - 53543466 G PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	303	51
POLR3B	55703	broad.mit.edu	37	12	106826185	106826185	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:106826185G>A	ENST00000228347.4	+	15	1776	c.1554G>A	c.(1552-1554)ttG>ttA	p.L518L	POLR3B_ENST00000539066.1_Silent_p.L460L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	518					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CCAGTAACTTGGGAGTAGAAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													228	216	220			NA	NA	12		NA											NA				106826185		2203	4300	6503	SO:0001819	synonymous_variant			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503	55703	55703		RNA polymerase subunits	30348	protein-coding gene	gene with protein product		614366			NA	12391170	Standard	NM_018082	NM_018082	NA	Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1554G>A	12.37:g.106826185G>A		NA	A8K6H0|Q9NW59	37	CCDS9105.1																																																																																			POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407166.1		+	ENST00000228347.4	Silent	SNP	12 : 106826185 - 106826185 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	426	69
PRCC	5546	broad.mit.edu	37	1	156756500	156756500	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:156756500G>A	ENST00000271526.4	+	3	889	c.617G>A	c.(616-618)cGc>cAc	p.R206H	PRCC_ENST00000353233.3_Missense_Mutation_p.R206H|PRCC_ENST00000491853.1_3'UTR	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	206					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCTTCTCCCGCAAACCCTCG	0.552		NA	T	TFE3	papillary renal									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q21.1	5546	papillary renal cell carcinoma (translocation-associated)		E	0													108	108	108			NA	NA	1		NA											NA				156756500		2203	4300	6503	SO:0001583	missense			X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294	5546	5546			9343	protein-coding gene	gene with protein product		179755			NA	8872474	Standard	NM_005973	NM_005973	NA	Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.617G>A	1.37:g.156756500G>A	ENSP00000271526:p.Arg206His	NA	A8K1F7|O00665|O00724|Q5SZ06	37	CCDS1157.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206513	0.79127	.	.	ENSG00000143294	ENST00000271526;ENST00000353233;ENST00000368201	T;T	0.52526	0.66;0.8	5.67	5.67	0.87782	.	0.059882	0.64402	D	0.000003	T	0.36331	0.0963	N	0.14661	0.345	0.40079	D	0.976116	D;D	0.76494	0.998;0.999	P;P	0.60117	0.818;0.869	T	0.42396	-0.9454	10	0.62326	D	0.03	-5.7113	11.7614	0.51905	0.0805:0.0:0.9195:0.0	.	206;206	A6NG79;Q92733	.;PRCC_HUMAN	H	206;206;150	ENSP00000271526:R206H;ENSP00000339300:R206H	ENSP00000271526:R206H	R	+	2	0	PRCC	155023124	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.489000	0.60309	2.670000	0.90874	0.655000	0.94253	CGC	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098941.2		+	ENST00000271526.4	Missense_Mutation	SNP	1 : 156756500 - 156756500 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	877	10
PRKD1	5587	broad.mit.edu	37	14	30047559	30047559	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:30047559delA	ENST00000331968.5	-	17	2671	c.2442delT	c.(2440-2442)gatfs	p.D814fs	PRKD1_ENST00000415220.2_Frame_Shift_Del_p.D822fs	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	814	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGTTGATAAGATCAATGGCTG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	65	65			NA	NA	14		NA											NA				30047559		2203	4300	6503	SO:0001589	frameshift_variant				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	5587	5587	2.7.11.1	Pleckstrin homology (PH) domain containing	9407	protein-coding gene	gene with protein product		605435	protein kinase C, mu	PRKCM	NA	8119958, 10965134	Standard	NM_002742	NM_002742	NA	Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2442delT	14.37:g.30047559delA	ENSP00000333568:p.Asp814fs	NA	A6NL64|B2RAF6	37	CCDS9637.1																																																																																			PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276611.2		-	ENST00000331968.5	Frame_Shift_Del	DEL	14 : 30047559 - 30047559 - PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	105	23
PSD	5662	broad.mit.edu	37	10	104176584	104176584	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:104176584C>T	ENST00000020673.5	-	2	738	c.212G>A	c.(211-213)cGt>cAt	p.R71H	PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Missense_Mutation_p.R71H	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	71	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGGGGGGCCACGCAGAGGTGT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	43	42			NA	NA	10		NA											NA				104176584		2197	4288	6485	SO:0001583	missense			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915	5662	5662		Pleckstrin homology (PH) domain containing	9507	protein-coding gene	gene with protein product		602327	pleckstrin and Sec7 domain protein		NA	9417912	Standard		NM_002779	NA	Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.212G>A	10.37:g.104176584C>T	ENSP00000020673:p.Arg71His	NA	B1AKX7|D3DR87|Q15673|Q8IVG0	37	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452370	0.63290	.	.	ENSG00000059915	ENST00000020673;ENST00000406432	T;T	0.26810	1.71;1.71	5.08	3.14	0.36123	.	0.205230	0.27876	N	0.017489	T	0.17280	0.0415	N	0.08118	0	0.27662	N	0.947057	D	0.54047	0.964	P	0.47744	0.556	T	0.05500	-1.0881	10	0.66056	D	0.02	.	10.5792	0.45246	0.1505:0.7046:0.1449:0.0	.	71	A5PKW4	PSD1_HUMAN	H	71	ENSP00000020673:R71H;ENSP00000384830:R71H	ENSP00000020673:R71H	R	-	2	0	PSD	104166574	1.000000	0.71417	0.880000	0.34516	0.986000	0.74619	3.738000	0.55067	0.495000	0.27882	0.561000	0.74099	CGT	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050041.2		-	ENST00000020673.5	Missense_Mutation	SNP	10 : 104176584 - 104176584 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	807	198
PSMG4	389362	broad.mit.edu	37	6	3284091	3284091	+	Silent	SNP	C	C	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:3284091C>G	ENST00000451246.2	+	2	308				SLC22A23_ENST00000380302.4_Silent_p.V285V|SLC22A23_ENST00000490273.1_Silent_p.V285V|SLC22A23_ENST00000436008.2_Silent_p.V574V|SLC22A23_ENST00000406686.3_Silent_p.V566V			Q5JS54	PSMG4_HUMAN	proteasome (prosome, macropain) assembly chaperone 4	NA										endometrium(1)	1						CGCACCTTATCACCGTCGGGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	64	66			NA	NA	6		NA											NA				3284091		2203	4300	6503	SO:0001627	intron_variant				CCDS47360.1, CCDS47361.1, CCDS47362.1	6p25.2	2010-06-23	2008-02-25	2008-02-25	ENSG00000180822	ENSG00000180822	389362	389362			21108	protein-coding gene	gene with protein product			chromosome 6 open reading frame 86	C6orf86	NA	17707236	Standard		NM_001128591	NA	Approved	PAC4	uc010jnl.1	Q5JS54	OTTHUMG00000014142	ENST00000451246.2:c.228+1527C>G	6.37:g.3284091C>G		NA	Q5JS53|Q5JS56	37																																																																																				PSMG4-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367067.1		+	ENST00000451246.2	Intron	SNP	6 : 3284091 - 3284091 G PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	215	16
PTP4A2	8073	broad.mit.edu	37	1	32381581	32381582	+	In_Frame_Ins	INS	-	-	TAA			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:32381581_32381582insTAA	ENST00000602725.1	-	2	520_521	c.103_104insTTA	c.(103-105)aag>aTTAag	p.34_35insI	RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000470404.1_In_Frame_Ins_p.34_35insI|PTP4A2_ENST00000344035.6_In_Frame_Ins_p.34_35insI|PTP4A2_ENST00000457805.2_Intron|PTP4A2_ENST00000356536.3_In_Frame_Ins_p.34_35insI			Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	34						early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				TCCATACTTCTTAAGTTCCttt	0.361		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001652	inframe_insertion			L48723	CCDS348.1, CCDS53292.1, CCDS59193.1	1p35	2011-06-09			ENSG00000184007	ENSG00000184007	8073	8073		Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs	9635	protein-coding gene	gene with protein product		601584		PTP4A	NA	8661118, 9514946	Standard	NM_080391	NM_080391	NA	Approved	HU-PP-1, PTPCAAX2, OV-1, ptp-IV1a, PRL-2	uc001bty.2	Q12974	OTTHUMG00000003801	ENST00000602725.1:c.101_103dupTTA	1.37:g.32381582_32381584dupTAA	ENSP00000473259:p.Leu34_Lys35insIle	NA	A8K9I8|D3DPP0|O00649|Q15197|Q15259|Q15260|Q15261	37	CCDS348.1																																																																																			PTP4A2-019	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000468092.1		-	ENST00000602725.1	In_Frame_Ins	INS	1 : 32381581 - 32381582 TAA PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	95	59
PTPN13	5783	broad.mit.edu	37	4	87653817	87653817	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:87653817C>A	ENST00000427191.2	+	12	2236	c.1756C>A	c.(1756-1758)Ctg>Atg	p.L586M	PTPN13_ENST00000411767.2_Missense_Mutation_p.L586M|PTPN13_ENST00000511467.1_Missense_Mutation_p.L586M|PTPN13_ENST00000436978.1_Missense_Mutation_p.L586M|PTPN13_ENST00000316707.6_Missense_Mutation_p.L586M	NM_006264.2	NP_006255.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	586	FERM.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAGACTGGAACTGACCTGTGA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	121	123			NA	NA	4		NA											NA				87653817		1905	4137	6042	SO:0001583	missense				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629	NA	5783		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9646	protein-coding gene	gene with protein product		600267			NA	8287977	Standard		NM_006264	NA	Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000427191.2:c.1756C>A	4.37:g.87653817C>A	ENSP00000408368:p.Leu586Met	NA	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	37	CCDS47095.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993492	0.35131	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	5.31	2.57	0.30868	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.196433	0.24962	N	0.034217	D	0.83027	0.5165	M	0.66939	2.045	0.52501	D	0.99995	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.999;1.0;1.0	T	0.80146	-0.1504	10	0.56958	D	0.05	.	5.0233	0.14372	0.1488:0.6263:0.0:0.2249	.	586;586;586;586	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	M	586;586;586;586;586;554	ENSP00000408368:L586M;ENSP00000394794:L586M;ENSP00000322675:L586M;ENSP00000407249:L586M;ENSP00000426626:L586M	ENSP00000322675:L586M	L	+	1	2	PTPN13	87872841	1.000000	0.71417	0.975000	0.42487	0.014000	0.08584	1.671000	0.37513	0.583000	0.29574	-0.251000	0.11542	CTG	PTPN13-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363189.1		+	ENST00000427191.2	Missense_Mutation	SNP	4 : 87653817 - 87653817 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	307	34
PTPRS	5802	broad.mit.edu	37	19	5218496	5218496	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:5218496G>A	ENST00000587303.1	-	24	4082	c.3983C>T	c.(3982-3984)gCc>gTc	p.A1328V	PTPRS_ENST00000353284.2_Missense_Mutation_p.A897V|PTPRS_ENST00000592099.1_Missense_Mutation_p.A897V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1306V|PTPRS_ENST00000588012.1_Missense_Mutation_p.A1306V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A1324V|PTPRS_ENST00000372412.4_Missense_Mutation_p.A1329V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A1328V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1328					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGCGAGGTCGGCATTGTTCAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													241	212	222			NA	NA	19		NA											NA				5218496		2203	4300	6503	SO:0001583	missense			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426	5802	5802		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9681	protein-coding gene	gene with protein product		601576			NA	8954782, 8524829	Standard		NM_002850	NA	Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3983C>T	19.37:g.5218496G>A	ENSP00000467537:p.Ala1328Val	NA	O75255|O75870|Q15718|Q16341|Q2M3R7	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867332	0.72065	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.56776	0.59;0.58;0.56;0.44;0.53	4.3	4.3	0.51218	.	0.469026	0.18281	U	0.146037	T	0.67979	0.2951	L	0.52364	1.645	0.80722	D	1	P;P;D;B;D;D	0.89917	0.84;0.82;1.0;0.065;0.998;1.0	P;P;D;B;D;D	0.91635	0.709;0.535;0.999;0.059;0.968;0.997	T	0.70475	-0.4861	10	0.59425	D	0.04	.	16.9445	0.86227	0.0:0.0:1.0:0.0	.	910;897;901;1306;1328;923	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	V	923;1329;1328;1328;1319;1324;1306;910;901;897	ENSP00000361489:A1329V;ENSP00000349932:A1328V;ENSP00000262963:A1324V;ENSP00000269907:A1306V;ENSP00000327313:A897V	ENSP00000262963:A1324V	A	-	2	0	PTPRS	5169496	1.000000	0.71417	0.655000	0.29622	0.179000	0.23085	9.143000	0.94623	2.232000	0.73038	0.561000	0.74099	GCC	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450762.2		-	ENST00000587303.1	Missense_Mutation	SNP	19 : 5218496 - 5218496 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1295	8
PXMP4	11264	broad.mit.edu	37	20	32295669	32295669	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:32295669G>A	ENST00000409299.3	-	4	574	c.482C>T	c.(481-483)gCg>gTg	p.A161V	PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	161						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity			NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CCACACCACCGCAGTGAGCAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA,	0,4406		0,0,2203	96	90	92		482,	-0.1	0	20		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3	PXMP4	NM_007238.4,NM_183397.2	64,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging,	161/213,	32295669	1,13005	2203	4300	6503	SO:0001583	missense			AF072864	CCDS13225.1, CCDS13226.1	20q11.22	2008-07-02	2002-08-29		ENSG00000101417	ENSG00000101417	11264	11264			15920	protein-coding gene	gene with protein product	24 kDa peroxisomal intrinsic membrane protein		peroxisomal membrane protein 4 (24kD)		NA	10366717	Standard	NM_007238	NM_183397	NA	Approved	PMP24	uc002wzv.3	Q9Y6I8	OTTHUMG00000032273	ENST00000409299.3:c.482C>T	20.37:g.32295669G>A	ENSP00000386385:p.Ala161Val	NA	Q9H0T4	37	CCDS13225.1	.	.	.	.	.	.	.	.	.	.	g	15.78	2.934367	0.52866	0.0	1.16E-4	ENSG00000101417	ENST00000409299	T	0.52526	0.66	5.84	-0.0573	0.13802	.	0.250386	0.46758	D	0.000263	T	0.57873	0.2083	M	0.79011	2.435	0.80722	D	1	D	0.60160	0.987	P	0.48952	0.596	T	0.67795	-0.5578	10	0.38643	T	0.18	-5.9167	20.603	0.99464	0.0:0.6254:0.3746:0.0	.	161	Q9Y6I8	PXMP4_HUMAN	V	161	ENSP00000386385:A161V	ENSP00000386385:A161V	A	-	2	0	PXMP4	31759330	0.995000	0.38212	0.000000	0.03702	0.077000	0.17291	2.712000	0.47186	-0.204000	0.10235	0.638000	0.83543	GCG	PXMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078739.2		-	ENST00000409299.3	Missense_Mutation	SNP	20 : 32295669 - 32295669 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	680	8
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	103	101			NA	NA	2		NA											NA				109371498		2198	4282	6480	SO:0001819	synonymous_variant			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201	5903	5903		Tetratricopeptide (TTC) repeat domain containing	9848	protein-coding gene	gene with protein product		601181	acute necrotizing encephalopathy 1 (autosomal dominant)	ANE1	NA	7724562, 19118815	Standard	NM_006267	NM_006267	NA	Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A		NA	Q13074|Q15280|Q53TE2|Q59FH7	37	CCDS2079.1																																																																																			RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253594.1		+	ENST00000283195.6	Silent	SNP	2 : 109371498 - 109371498 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1125	7
RARB	5915	broad.mit.edu	37	3	25637964	25637964	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:25637964C>T	ENST00000330688.4	+	8	1625	c.1204C>T	c.(1204-1206)Ctc>Ttc	p.L402F	RARB_ENST00000404969.1_Missense_Mutation_p.L409F|RARB_ENST00000437042.2_Missense_Mutation_p.L290F|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Missense_Mutation_p.L290F	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	409	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AATGCCACCTCTCATTCAAGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	130	131			NA	NA	3		NA											NA				25637964		2203	4300	6503	SO:0001583	missense			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092	5915	5915		Nuclear hormone receptors	9865	protein-coding gene	gene with protein product		180220			NA		Standard	NM_000965, NM_016152	NM_016152	NA	Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000330688.4:c.1204C>T	3.37:g.25637964C>T	ENSP00000332296:p.Leu402Phe	NA	P12891|Q00989|Q15298|Q9UN48	37	CCDS2642.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997746	0.74818	.	.	ENSG00000077092	ENST00000404969;ENST00000437042;ENST00000330688;ENST00000458646	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.9	5.9	0.94986	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.78097	0.4230	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.76610	-0.2896	9	.	.	.	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	409;402	P10826;F1D8S6	RARB_HUMAN;.	F	409;290;402;290	ENSP00000385865:L409F;ENSP00000398840:L290F;ENSP00000332296:L402F;ENSP00000391391:L290F	.	L	+	1	0	RARB	25612968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.798000	0.85924	2.804000	0.96469	0.655000	0.94253	CTC	RARB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340847.1		+	ENST00000330688.4	Missense_Mutation	SNP	3 : 25637964 - 25637964 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	753	324
RD3	343035	broad.mit.edu	37	1	211652533	211652533	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:211652533G>A	ENST00000367002.4	-	3	1596	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	145					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		CCGCGGGGCCGCAGGCTCCAC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	22	23			NA	NA	1		NA											NA				211652533		2200	4296	6496	SO:0001583	missense			AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570	343035	343035			19689	protein-coding gene	gene with protein product		180040	chromosome 1 open reading frame 36	C1orf36	NA	12914764	Standard	NM_183059	NM_183059	NA	Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.433C>T	1.37:g.211652533G>A	ENSP00000355969:p.Arg145Trp	NA	A8K595	37	CCDS1498.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997699	0.54147	.	.	ENSG00000198570	ENST00000367002	T	0.13089	2.62	4.33	0.889	0.19212	.	0.310531	0.32608	N	0.005867	T	0.15739	0.0379	M	0.68952	2.095	0.33741	D	0.619458	B	0.25007	0.116	B	0.19391	0.025	T	0.21348	-1.0248	10	0.87932	D	0	-17.1619	12.376	0.55281	0.0:0.0:0.301:0.699	.	145	Q7Z3Z2	RD3_HUMAN	W	145	ENSP00000355969:R145W	ENSP00000355969:R145W	R	-	1	2	RD3	209719156	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	2.776000	0.47709	0.337000	0.23665	0.555000	0.69702	CGG	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089837.1		-	ENST00000367002.4	Missense_Mutation	SNP	1 : 211652533 - 211652533 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	206	4
RMDN3	55177	broad.mit.edu	37	15	41043687	41043687	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:41043687G>T	ENST00000260385.6	-	3	1528	c.461C>A	c.(460-462)tCc>tAc	p.S154Y	RMDN3_ENST00000338376.3_Missense_Mutation_p.S154Y|RMDN3_ENST00000558560.1_5'UTR					regulator of microtubule dynamics 3	NA											NA						GACAGAGCTGGAGCCAGTGGA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	87	87			NA	NA	15		NA											NA				41043687		2203	4300	6503	SO:0001583	missense			AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824	55177	55177			25550	protein-coding gene	gene with protein product		611873	family with sequence similarity 82, member A2	FAM82C, FAM82A2	NA	12975309	Standard	NM_018145	XM_005254531	NA	Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.461C>A	15.37:g.41043687G>T	ENSP00000260385:p.Ser154Tyr	NA		37	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557716	0.86231	.	.	ENSG00000137824	ENST00000260385;ENST00000338376;ENST00000426872	T;T	0.44083	0.93;0.93	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	M	0.71581	2.175	0.51482	D	0.999929	D	0.89917	1.0	D	0.70935	0.971	T	0.68303	-0.5444	10	0.72032	D	0.01	-10.391	18.4611	0.90738	0.0:0.0:1.0:0.0	.	154	Q96TC7	RMD3_HUMAN	Y	154;154;91	ENSP00000260385:S154Y;ENSP00000342493:S154Y	ENSP00000260385:S154Y	S	-	2	0	FAM82A2	38830979	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.601000	0.82783	2.457000	0.83068	0.555000	0.69702	TCC	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252357.1		-	ENST00000260385.6	Missense_Mutation	SNP	15 : 41043687 - 41043687 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	442	371
RSPO4	343637	broad.mit.edu	37	20	944604	944604	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:944604C>T	ENST00000217260.4	-	4	665	c.569G>A	c.(568-570)tGt>tAt	p.C190Y	RSPO4_ENST00000400634.2_Intron	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	190	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTGGATGGGACATTTCCTTGA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	54	52			NA	NA	20		NA											NA				944604		2011	4180	6191	SO:0001583	missense			AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282	343637	343637		Endogenous ligands	16175	protein-coding gene	gene with protein product		610573	chromosome 20 open reading frame 182, R-spondin family, member 4	C20orf182	NA	15469841	Standard	XM_297816	NM_001029871	NA	Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.569G>A	20.37:g.944604C>T	ENSP00000217260:p.Cys190Tyr	NA	A2A2I6|Q9UGB2	37	CCDS42846.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674741	0.67928	.	.	ENSG00000101282	ENST00000217260	D	0.93426	-3.22	4.44	4.44	0.53790	.	0.143259	0.46758	D	0.000279	D	0.96716	0.8928	M	0.92507	3.315	0.80722	D	1	D	0.58620	0.983	P	0.56700	0.804	D	0.97849	1.0273	10	0.87932	D	0	-21.0985	16.0364	0.80631	0.0:1.0:0.0:0.0	.	190	Q2I0M5	RSPO4_HUMAN	Y	190	ENSP00000217260:C190Y	ENSP00000217260:C190Y	C	-	2	0	RSPO4	892604	1.000000	0.71417	0.959000	0.39883	0.814000	0.46013	5.886000	0.69743	2.206000	0.71126	0.298000	0.19748	TGT	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077492.3		-	ENST00000217260.4	Missense_Mutation	SNP	20 : 944604 - 944604 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	504	60
RSPRY1	89970	broad.mit.edu	37	16	57243042	57243042	+	Silent	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:57243042T>C	ENST00000537866.1	+	4	1332	c.459T>C	c.(457-459)gaT>gaC	p.D153D	RSPRY1_ENST00000394420.4_Silent_p.D153D			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	153						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CACTGGAAGATCCACTGGGAC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	203	206			NA	NA	16		NA											NA				57243042		2198	4300	6498	SO:0001819	synonymous_variant			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579	89970	89970		RING-type (C3HC4) zinc fingers	29420	protein-coding gene	gene with protein product					NA	11853319	Standard	NM_133368	NM_133368	NA	Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.459T>C	16.37:g.57243042T>C		NA	Q6UX21|Q8ND53	37	CCDS10775.1																																																																																			RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432953.1		+	ENST00000537866.1	Silent	SNP	16 : 57243042 - 57243042 C PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1020	106
RXFP3	51289	broad.mit.edu	37	5	33936896	33936896	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:33936896C>T	ENST00000330120.3	+	1	406	c.51C>T	c.(49-51)ggC>ggT	p.G17G		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	17						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						AGGCAGCAGGCGGGGACAAGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	77	75			NA	NA	5		NA											NA				33936896		2203	4300	6503	SO:0001819	synonymous_variant			D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631	51289	51289		GPCR / Class A : Relaxin family peptide receptors	24883	protein-coding gene	gene with protein product		609445	relaxin 3 receptor 1, relaxin family peptide receptor 3	RLN3R1	NA	15956688, 16507880	Standard	NM_016568	NM_016568	NA	Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.51C>T	5.37:g.33936896C>T		NA	Q14DA5	37	CCDS3900.1																																																																																			RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207369.1		+	ENST00000330120.3	Silent	SNP	5 : 33936896 - 33936896 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1057	71
SCN4A	6329	broad.mit.edu	37	17	62045516	62045516	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:62045516G>A	ENST00000578147.1	-	6	979	c.903C>T	c.(901-903)taC>taT	p.Y301Y	SCN4A_ENST00000435607.1_Silent_p.Y301Y			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	301					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGTCATTGCCGTACCACGTGT	0.552		NA											G	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.8689	EXOME	NA	NA	0.0026	SNP								NA				0													289	283	285			NA	NA	17		NA											NA				62045516		2178	4279	6457	SO:0001819	synonymous_variant			U24693		17q23.3	2012-02-26	2007-01-23				6329	6329		Sodium channels, Voltage-gated ion channels / Sodium channels	10591	protein-coding gene	gene with protein product		603967		HYKPP	NA	1654742, 1659948, 16382098	Standard	NM_000334	XM_005257566	NA	Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000578147.1:c.903C>T	17.37:g.62045516G>A		NA	Q15478|Q16447|Q7Z6B1	37																																																																																				SCN4A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000444562.1		-	ENST00000578147.1	Silent	SNP	17 : 62045516 - 62045516 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	704	6
SCN5A	6331	broad.mit.edu	37	3	38592917	38592917	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:38592917G>A	ENST00000455624.2	-	27	4871	c.4847C>T	c.(4846-4848)gCc>gTc	p.A1616V	SCN5A_ENST00000333535.4_Missense_Mutation_p.A1649V|SCN5A_ENST00000413689.1_Missense_Mutation_p.A1649V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1648V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A1631V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A1595V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A1648V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A1631V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1595V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1595V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1649				F -> S (in Ref. 10; BAD92103).	blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CATCATGAGGGCAAAGAGCAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM067713	SCN5A	M							144	141	142			NA	NA	3		NA											NA				38592917		2203	4300	6503	SO:0001583	missense			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873	6331	6331		Sodium channels, Voltage-gated ion channels / Sodium channels	10593	protein-coding gene	gene with protein product	long QT syndrome 3	600163	sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	CMD1E	NA	7842012, 15466643, 16382098	Standard	NM_198056	NM_198056	NA	Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000455624.2:c.4847C>T	3.37:g.38592917G>A	ENSP00000399524:p.Ala1616Val	NA	A5H1P8|A6N922|A6N923|B2RTU0|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	37	CCDS54570.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596086	0.86953	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1	4.54	4.54	0.55810	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99266	0.9744	M	0.89840	3.065	0.80722	D	1	D;D;D;D;D;P	0.89917	0.999;0.999;1.0;1.0;0.999;0.947	D;D;D;D;D;P	0.87578	0.981;0.996;0.994;0.998;0.99;0.715	D	0.99035	1.0822	10	0.87932	D	0	.	17.4903	0.87701	0.0:0.0:1.0:0.0	.	1595;1616;1631;1649;1648;1649	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	V	1631;1648;1649;1595;1648;1631;1649;1616;1595;1595	ENSP00000398962:A1631V;ENSP00000398266:A1648V;ENSP00000410257:A1649V;ENSP00000388797:A1595V;ENSP00000397915:A1648V;ENSP00000416634:A1631V;ENSP00000328968:A1649V;ENSP00000399524:A1616V;ENSP00000403355:A1595V;ENSP00000413996:A1595V	ENSP00000328968:A1649V	A	-	2	0	SCN5A	38567921	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.641000	0.98458	2.353000	0.79882	0.561000	0.74099	GCC	SCN5A-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343215.2		-	ENST00000455624.2	Missense_Mutation	SNP	3 : 38592917 - 38592917 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	642	6
SEC24C	9632	broad.mit.edu	37	10	75527671	75527671	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:75527671T>A	ENST00000339365.2	+	16	2249	c.2087T>A	c.(2086-2088)cTc>cAc	p.L696H	SEC24C_ENST00000411652.2_Missense_Mutation_p.L577H|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.L696H	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	696					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TGTGTAGATCTCTTTCTCTTC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	149	155			NA	NA	10		NA											NA				75527671		2203	4300	6503	SO:0001583	missense			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986	9632	9632			10705	protein-coding gene	gene with protein product		607185	SEC24 (S. cerevisiae) related gene family, member C, SEC24 family, member C (S. cerevisiae)		NA	10214955, 7584044	Standard		NM_004922	NA	Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2087T>A	10.37:g.75527671T>A	ENSP00000343405:p.Leu696His	NA	Q8WV25	37	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.983773	0.93044	.	.	ENSG00000176986	ENST00000345254;ENST00000339365;ENST00000411652	D;D;D	0.81579	-1.51;-1.51;-1.51	5.98	5.98	0.97165	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.92169	0.7517	M	0.93016	3.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93828	0.7125	10	0.87932	D	0	-14.9084	16.4728	0.84119	0.0:0.0:0.0:1.0	.	577;696;696	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	H	696;696;577	ENSP00000321845:L696H;ENSP00000343405:L696H;ENSP00000402913:L577H	ENSP00000343405:L696H	L	+	2	0	SEC24C	75197677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.296000	0.77279	0.482000	0.46254	CTC	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048679.1		+	ENST00000339365.2	Missense_Mutation	SNP	10 : 75527671 - 75527671 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	771	12
SEC24C	9632	broad.mit.edu	37	10	75527672	75527672	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:75527672C>T	ENST00000339365.2	+	16	2250	c.2088C>T	c.(2086-2088)ctC>ctT	p.L696L	SEC24C_ENST00000411652.2_Silent_p.L577L|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Silent_p.L696L	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	696					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GTGTAGATCTCTTTCTCTTCC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	149	155			NA	NA	10		NA											NA				75527672		2203	4300	6503	SO:0001819	synonymous_variant			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986	9632	9632			10705	protein-coding gene	gene with protein product		607185	SEC24 (S. cerevisiae) related gene family, member C, SEC24 family, member C (S. cerevisiae)		NA	10214955, 7584044	Standard		NM_004922	NA	Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2088C>T	10.37:g.75527672C>T		NA	Q8WV25	37	CCDS7332.1																																																																																			SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048679.1		+	ENST00000339365.2	Silent	SNP	10 : 75527672 - 75527672 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	765	11
SEMG1	6406	broad.mit.edu	37	20	43836069	43836069	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:43836069A>G	ENST00000372781.3	+	2	188	c.131A>G	c.(130-132)aAg>aGg	p.K44R	SEMG1_ENST00000244069.6_Missense_Mutation_p.K44R	NM_003007.3	NP_002998.1			semenogelin I	NA										cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CACGGACAAAAGGGCCAGCAC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	118	117			NA	NA	20		NA											NA				43836069		2203	4300	6503	SO:0001583	missense				CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233	6406	6406			10742	protein-coding gene	gene with protein product	semen coagulating protein, cancer/testis antigen 103	182140		SEMG	NA	2912989, 15563730	Standard	NM_003007	NM_003007	NA	Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.131A>G	20.37:g.43836069A>G	ENSP00000361867:p.Lys44Arg	NA		37	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	A	7.527	0.657848	0.14645	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.06608	3.28;3.28	2.05	0.853	0.19001	.	.	.	.	.	T	0.05686	0.0149	L	0.45581	1.43	0.09310	N	1	B;B;B	0.27910	0.058;0.193;0.071	B;B;B	0.22152	0.022;0.036;0.038	T	0.36553	-0.9743	9	0.45353	T	0.12	.	4.1025	0.10020	0.8112:0.0:0.1888:0.0	.	44;44;44	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	R	44	ENSP00000244069:K44R;ENSP00000361867:K44R	ENSP00000244069:K44R	K	+	2	0	SEMG1	43269483	0.001000	0.12720	0.000000	0.03702	0.077000	0.17291	0.868000	0.27982	0.196000	0.20367	0.377000	0.23210	AAG	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079416.3		+	ENST00000372781.3	Missense_Mutation	SNP	20 : 43836069 - 43836069 G PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	740	5
SFMBT2	57713	broad.mit.edu	37	10	7218087	7218087	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:7218087G>A	ENST00000361972.4	-	17	1939	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R617W	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	617					regulation of transcription, DNA-dependent	nucleus		p.R617G(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCAGATGTCCGTACGATTTTG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	breast(1)											108	107	107			NA	NA	10		NA											NA				7218087		2203	4300	6503	SO:0001583	missense			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879	57713	57713		Sterile alpha motif (SAM) domain containing	20256	protein-coding gene	gene with protein product		615392	Scm-related gene containing four mbt domains 2		NA	10997877	Standard	NM_001029880	NM_001029880	NA	Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1849C>T	10.37:g.7218087G>A	ENSP00000355109:p.Arg617Trp	NA	A7MD09|Q9HCF5	37	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648095	0.67358	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.47528	0.84;0.84	5.96	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.68522	0.3010	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72868	-0.4162	10	0.72032	D	0.01	.	16.3303	0.83006	0.0:0.0:0.8669:0.1331	.	617	Q5VUG0	SMBT2_HUMAN	W	617	ENSP00000355109:R617W;ENSP00000380353:R617W	ENSP00000355109:R617W	R	-	1	2	SFMBT2	7258093	1.000000	0.71417	0.041000	0.18516	0.283000	0.27025	5.140000	0.64807	1.468000	0.48064	0.655000	0.94253	CGG	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046673.1		-	ENST00000361972.4	Missense_Mutation	SNP	10 : 7218087 - 7218087 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	848	8
SH2D4B	387694	broad.mit.edu	37	10	82331253	82331253	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:82331253C>T	ENST00000339284.2	+	3	844	c.414C>T	c.(412-414)atC>atT	p.I138I	SH2D4B_ENST00000470604.2_Silent_p.I137I|SH2D4B_ENST00000313455.4_Silent_p.I89I	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	137	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			AAGCCCGGATCTTGGCGGAGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	72	73			NA	NA	10		NA											NA				82331253		2203	4300	6503	SO:0001819	synonymous_variant				CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217	387694	387694		SH2 domain containing	31440	protein-coding gene	gene with protein product					NA		Standard	XM_351984	NM_207372	NA	Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000339284.2:c.414C>T	10.37:g.82331253C>T		NA	Q5SQS5|Q6ZVW9|Q6ZVZ3	37	CCDS7370.1																																																																																			SH2D4B-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000124087.1		+	ENST00000339284.2	Silent	SNP	10 : 82331253 - 82331253 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	576	72
SHANK1	50944	broad.mit.edu	37	19	51219944	51219944	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:51219944C>T	ENST00000293441.1	-	1	251	c.233G>A	c.(232-234)gGc>gAc	p.G78D	SHANK1_ENST00000359082.3_Missense_Mutation_p.G78D|SHANK1_ENST00000391814.1_Missense_Mutation_p.G78D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	78					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)		GTCCGGGATGCCAATCCTGAA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	81	87			NA	NA	19		NA											NA				51219944		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.233G>A	19.37:g.51219944C>T	ENSP00000293441:p.Gly78Asp	NA	A8MXP5|B7WNY6|Q9NYW9	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754283	0.49362	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.39406	1.19;1.17;1.08	3.14	3.14	0.36123	.	0.578214	0.13868	U	0.357234	T	0.59376	0.2189	M	0.63843	1.955	0.51482	D	0.999926	D	0.89917	1.0	D	0.69654	0.965	T	0.59354	-0.7470	10	0.46703	T	0.11	.	13.4057	0.60911	0.0:1.0:0.0:0.0	.	78	Q9Y566	SHAN1_HUMAN	D	78	ENSP00000293441:G78D;ENSP00000351984:G78D;ENSP00000375690:G78D	ENSP00000293441:G78D	G	-	2	0	SHANK1	55911756	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.514000	0.60482	1.475000	0.48197	0.298000	0.19748	GGC	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268071.1		-	ENST00000293441.1	Missense_Mutation	SNP	19 : 51219944 - 51219944 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	493	6
SIN3A	25942	broad.mit.edu	37	15	75664478	75664478	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:75664478C>T	ENST00000394947.3	-	21	3978	c.3664G>A	c.(3664-3666)Gtg>Atg	p.V1222M	SIN3A_ENST00000360439.4_Missense_Mutation_p.V1222M|SIN3A_ENST00000394949.4_Missense_Mutation_p.V1222M	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	1222					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TCACGGGGCACATGCTCCTTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	131	133			NA	NA	15		NA											NA				75664478		2197	4294	6491	SO:0001583	missense			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375	25942	25942			19353	protein-coding gene	gene with protein product		607776	SIN3 homolog A, transcription regulator (yeast), SIN3 transcription regulator homolog A (yeast)		NA	10773092, 7601471	Standard	NM_015477	NM_001145357	NA	Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3664G>A	15.37:g.75664478C>T	ENSP00000378402:p.Val1222Met	NA	B2RNS5|Q8N8N4|Q8NC83|Q8WV18|Q96L98|Q9UFQ1	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402483	0.83230	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.55234	0.53;0.53;0.53	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.74816	0.3766	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78669	-0.2114	10	0.72032	D	0.01	-13.68	17.6621	0.88195	0.0:1.0:0.0:0.0	.	1222	Q96ST3	SIN3A_HUMAN	M	1222	ENSP00000378402:V1222M;ENSP00000378403:V1222M;ENSP00000353622:V1222M	ENSP00000353622:V1222M	V	-	1	0	SIN3A	73451531	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.718000	0.84743	2.419000	0.82065	0.491000	0.48974	GTG	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286469.1		-	ENST00000394947.3	Missense_Mutation	SNP	15 : 75664478 - 75664478 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	426	57
SLC16A11	162515	broad.mit.edu	37	17	6945098	6945098	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:6945098G>A	ENST00000308009.1	-	4	1653	c.1316C>T	c.(1315-1317)cCa>cTa	p.P439L	SLC16A11_ENST00000447225.1_Missense_Mutation_p.P407L	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	439						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						AGGCGTGGCTGGAGGGGAGGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	32	29			NA	NA	17		NA											NA				6945098		2200	4294	6494	SO:0001583	missense			AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326	162515	162515		Solute carriers	23093	protein-coding gene	gene with protein product	monocarboxylic acid transporter 11	615765	solute carrier family 16 (monocarboxylic acid transporters), member 11		NA		Standard	NM_153357	NM_153357	NA	Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.1316C>T	17.37:g.6945098G>A	ENSP00000310490:p.Pro439Leu	NA		37	CCDS11086.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598178	0.28445	.	.	ENSG00000174326	ENST00000308009;ENST00000447225	T;T	0.07114	3.22;3.23	5.12	3.12	0.35913	.	0.300428	0.30593	N	0.009284	T	0.06188	0.0160	L	0.36672	1.1	0.25669	N	0.985913	B	0.06786	0.001	B	0.06405	0.002	T	0.35748	-0.9776	10	0.25751	T	0.34	.	5.9864	0.19436	0.095:0.0:0.7042:0.2008	.	439	Q8NCK7	MOT11_HUMAN	L	439;407	ENSP00000310490:P439L;ENSP00000394449:P407L	ENSP00000310490:P439L	P	-	2	0	SLC16A11	6885822	0.958000	0.32768	0.072000	0.20136	0.838000	0.47535	2.862000	0.48388	0.702000	0.31825	0.650000	0.86243	CCA	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219921.1		-	ENST00000308009.1	Missense_Mutation	SNP	17 : 6945098 - 6945098 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	217	4
SLC27A3	11000	broad.mit.edu	37	1	153750295	153750295	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:153750295G>A	ENST00000271857.2	+	4	2239	c.1479G>A	c.(1477-1479)caG>caA	p.Q493Q	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Silent_p.Q412Q			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	412					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGATTGCCAGCAGCACAGGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	68	72			NA	NA	1		NA											NA				153750295		2203	4300	6503	SO:0001819	synonymous_variant			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554	11000	11000		Acyl-CoA synthetase family, Solute carriers	10997	protein-coding gene	gene with protein product		604193			NA	9671728	Standard	NM_024330	NM_024330	NA	Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000271857.2:c.1479G>A	1.37:g.153750295G>A		NA	Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	37		.	.	.	.	.	.	.	.	.	.	G	9.000	0.979781	0.18812	.	.	ENSG00000143554	ENST00000458027	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	T	0.49372	0.1553	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50092	-0.8868	4	.	.	.	-15.1753	9.1178	0.36769	0.0974:0.0:0.9026:0.0	.	.	.	.	N	117	.	.	S	+	2	0	SLC27A3	152016919	0.000000	0.05858	1.000000	0.80357	0.950000	0.60333	0.692000	0.25482	2.553000	0.86117	0.491000	0.48974	AGC	SLC27A3-001	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000090265.1		+	ENST00000271857.2	Silent	SNP	1 : 153750295 - 153750295 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	641	6
SLC6A18	348932	broad.mit.edu	37	5	1232476	1232476	+	Splice_Site	SNP	T	T	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:1232476T>A	ENST00000324642.3	+	2	424		c.e2+2		SLC6A18_ENST00000296821.4_Splice_Site	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	NA					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTGGAGTAGGTAGGCCACCGT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	29	29			NA	NA	5		NA											NA				1232476		2201	4299	6500	SO:0001630	splice_region_variant			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363	348932	348932		Solute carriers	26441	protein-coding gene	gene with protein product		610300	solute carrier family 6 (neurotransmitter transporter), member 18, solute carrier family 6, member 18		NA	19478081	Standard	NM_182632	NM_182632	NA	Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.301+2T>A	5.37:g.1232476T>A		NA		37	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.128189	0.37533	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7277	0.62767	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A18	1285476	1.000000	0.71417	0.317000	0.25265	0.066000	0.16364	5.389000	0.66255	2.069000	0.61940	0.402000	0.26972	.	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206728.3	Intron	+	ENST00000324642.3	Splice_Site	SNP	5 : 1232476 - 1232476 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	170	7
SLC6A18	348932	broad.mit.edu	37	5	1244416	1244416	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:1244416C>T	ENST00000324642.3	+	10	1547	c.1424C>T	c.(1423-1425)gCc>gTc	p.A475V	SLC6A18_ENST00000296821.4_Missense_Mutation_p.A373V	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	475					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GACAATTTTGCCGCTTCCCCG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	147	147			NA	NA	5		NA											NA				1244416		2203	4300	6503	SO:0001583	missense			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363	348932	348932		Solute carriers	26441	protein-coding gene	gene with protein product		610300	solute carrier family 6 (neurotransmitter transporter), member 18, solute carrier family 6, member 18		NA	19478081	Standard	NM_182632	NM_182632	NA	Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1424C>T	5.37:g.1244416C>T	ENSP00000323549:p.Ala475Val	NA		37	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975383	0.34848	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.76578	-1.03;-1.03	4.87	-1.66	0.08265	.	0.373560	0.27126	N	0.020814	T	0.58177	0.2104	N	0.21617	0.685	0.09310	N	1	B	0.16802	0.019	B	0.15052	0.012	T	0.49341	-0.8950	10	0.87932	D	0	.	5.9492	0.19235	0.0:0.3423:0.141:0.5167	.	475	Q96N87	S6A18_HUMAN	V	475;373	ENSP00000323549:A475V;ENSP00000296821:A373V	ENSP00000296821:A373V	A	+	2	0	SLC6A18	1297416	0.226000	0.23696	0.000000	0.03702	0.001000	0.01503	0.643000	0.24750	-0.361000	0.08125	-1.036000	0.02392	GCC	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206728.3		+	ENST00000324642.3	Missense_Mutation	SNP	5 : 1244416 - 1244416 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1324	8
SLC9B1	150159	broad.mit.edu	37	4	103826768	103826768	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:103826768C>T	ENST00000296422.7	-	11	1376	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	SLC9B1_ENST00000512651.2_Intron|SLC9B1_ENST00000394789.3_Missense_Mutation_p.R412Q	NM_139173.3	NP_631912	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	412						integral to membrane	solute:hydrogen antiporter activity				NA						GGTTAAAATTCGAACACATAA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	48	47			NA	NA	4		NA											NA				103826768		2200	4294	6494	SO:0001583	missense			AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037	150159	150159		Solute carriers	24244	protein-coding gene	gene with protein product		611527	Na+/H+ exchanger domain containing 1, solute carrier family 9, subfamily B (cation proton antiporter 2), member 1	NHEDC1	NA	16850186	Standard	NM_139173	NM_139173	NA	Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.1235G>A	4.37:g.103826768C>T	ENSP00000296422:p.Arg412Gln	NA	A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	37	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654826	0.67472	.	.	ENSG00000164037	ENST00000394789;ENST00000296422	T;T	0.24538	1.85;1.85	3.47	3.47	0.39725	.	0.000000	0.64402	D	0.000002	T	0.54711	0.1875	M	0.86740	2.835	0.43824	D	0.996397	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.969;0.988;0.995	T	0.65865	-0.6064	10	0.87932	D	0	-27.7024	14.2383	0.65941	0.0:1.0:0.0:0.0	.	180;412;412	Q4ZJI4-2;Q4ZJI4;Q4ZJI4-3	.;SL9B1_HUMAN;.	Q	412	ENSP00000378269:R412Q;ENSP00000296422:R412Q	ENSP00000296422:R412Q	R	-	2	0	SLC9B1	104046217	1.000000	0.71417	0.655000	0.29622	0.664000	0.39144	5.152000	0.64882	1.919000	0.55581	0.484000	0.47621	CGA	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363841.1		-	ENST00000296422.7	Missense_Mutation	SNP	4 : 103826768 - 103826768 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	437	5
SLITRK6	84189	broad.mit.edu	37	13	86370131	86370131	+	Silent	SNP	A	A	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:86370131A>T	ENST00000400286.2	-	2	1111	c.513T>A	c.(511-513)gcT>gcA	p.A171A		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	171						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GACTCTCAATAGCATTGTCAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	121	124			NA	NA	13		NA											NA				86370131		1864	4091	5955	SO:0001819	synonymous_variant			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564	84189	84189			23503	protein-coding gene	gene with protein product		609681			NA	14557068	Standard	NM_032229	NM_032229	NA	Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.513T>A	13.37:g.86370131A>T		NA	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	37	CCDS41903.1																																																																																			SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045404.2		-	ENST00000400286.2	Silent	SNP	13 : 86370131 - 86370131 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1044	296
SMAD3	4088	broad.mit.edu	37	15	67482873	67482873	+	Nonstop_Mutation	SNP	A	A	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:67482873A>T	ENST00000439724.3	+	9	1171	c.1145A>T	c.(1144-1146)tAg>tTg	p.*382L	SMAD3_ENST00000540846.2_Nonstop_Mutation_p.*321L|SMAD3_ENST00000327367.4_Nonstop_Mutation_p.*426L|SMAD3_ENST00000537194.2_Nonstop_Mutation_p.*231L	NM_001145103.1	NP_001138575.1	P84022	SMAD3_HUMAN	SMAD family member 3	0	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		AGTGTGTCTTAGAGACATCAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	44	46			NA	NA	15		NA											NA				67482873		2201	4299	6500	SO:0001578	stop_lost			BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949	4088	4088		SMADs	6769	protein-coding gene	gene with protein product		603109	MAD, mothers against decapentaplegic homolog 3 (Drosophila), SMAD, mothers against DPP homolog 3 (Drosophila)	MADH3	NA	8774881, 8673135	Standard	NM_005902	NM_001145102	NA	Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000439724.3:c.1145A>T	15.37:g.67482873A>T	ENSP00000401133:p.*382Leuext*6	NA	A8K4B6|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	37	CCDS45288.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119602	0.77323	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.22171	N	0.999318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6743	0.68967	1.0:0.0:0.0:0.0	.	.	.	.	L	426;426;321;382;231	.	.	X	+	2	0	SMAD3	65269927	1.000000	0.71417	0.994000	0.49952	0.924000	0.55760	9.224000	0.95209	1.880000	0.54463	0.459000	0.35465	TAG	SMAD3-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417462.1		+	ENST00000439724.3	Nonstop_Mutation	SNP	15 : 67482873 - 67482873 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	121	98
SPDYE3	441272	broad.mit.edu	37	7	99913460	99913460	+	Silent	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				11	Substitution - coding silent(11)	endometrium(10)|prostate(1)											253	273	266			NA	NA	7		NA											NA				99913460		2091	3956	6047	SO:0001819	synonymous_variant			BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300	441272	441272		Speedy homologs	35462	protein-coding gene	gene with protein product			speedy homolog E3 (Xenopus laevis)		NA		Standard	NM_001004351	NM_001004351	NA	Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1254A>G	7.37:g.99913460A>G		NA	Q495Y9|Q6PHC4	37	CCDS47658.2																																																																																			SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340224.2		+	ENST00000332397.6	Silent	SNP	7 : 99913460 - 99913460 G PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1266	9
SPTBN1	6711	broad.mit.edu	37	2	54855304	54855304	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:54855304T>G	ENST00000333896.5	+	12	2061	c.1676T>G	c.(1675-1677)cTg>cGg	p.L559R	SPTBN1_ENST00000356805.4_Missense_Mutation_p.L572R	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	572					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AAGCACACCCTGGTTGAAGCA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	138	148			NA	NA	2		NA											NA				54855304		2203	4300	6503	SO:0001583	missense				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306	NA	6711		Pleckstrin homology (PH) domain containing	11275	protein-coding gene	gene with protein product		182790			NA		Standard		NM_003128	NA	Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000333896.5:c.1676T>G	2.37:g.54855304T>G	ENSP00000334156:p.Leu559Arg	NA	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	37	CCDS33199.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.001376	0.93227	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;T	0.48201	0.82;0.82;0.82	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	T	0.71039	0.3293	M	0.80422	2.495	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.75611	-0.3258	10	0.87932	D	0	.	16.0165	0.80443	0.0:0.0:0.0:1.0	.	559;572	Q01082-3;Q01082	.;SPTB2_HUMAN	R	572;572;559	ENSP00000349259:L572R;ENSP00000374630:L572R;ENSP00000334156:L559R	ENSP00000334156:L559R	L	+	2	0	SPTBN1	54708808	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.984000	0.88150	2.190000	0.69967	0.519000	0.50382	CTG	SPTBN1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258117.1		+	ENST00000333896.5	Missense_Mutation	SNP	2 : 54855304 - 54855304 G PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	269	105
SSTR1	6751	broad.mit.edu	37	14	38678919	38678919	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:38678919C>A	ENST00000267377.2	+	3	942	c.325C>A	c.(325-327)Ctc>Atc	p.L109I		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	109					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GCTGCTCATGCTCAGCGTGCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													206	186	193			NA	NA	14		NA											NA				38678919		2203	4300	6503	SO:0001583	missense				CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874	NA	6751		GPCR / Class A : Somatostatin receptors	11330	protein-coding gene	gene with protein product		182451			NA	8449518	Standard		NM_001049	NA	Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.325C>A	14.37:g.38678919C>A	ENSP00000267377:p.Leu109Ile	NA		37	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093515	0.56075	.	.	ENSG00000139874	ENST00000267377	T	0.41065	1.01	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000141	T	0.55847	0.1946	L	0.43701	1.375	0.52501	D	0.999953	D	0.56287	0.975	D	0.63877	0.919	T	0.58624	-0.7604	10	0.72032	D	0.01	.	17.0253	0.86444	0.0:1.0:0.0:0.0	.	109	P30872	SSR1_HUMAN	I	109	ENSP00000267377:L109I	ENSP00000267377:L109I	L	+	1	0	SSTR1	37748670	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.936000	0.40183	2.505000	0.84491	0.655000	0.94253	CTC	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409930.2		+	ENST00000267377.2	Missense_Mutation	SNP	14 : 38678919 - 38678919 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	520	5
TCERG1L	256536	broad.mit.edu	37	10	132915167	132915167	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:132915167C>T	ENST00000368642.4	-	9	1375	c.1290G>A	c.(1288-1290)gaG>gaA	p.E430E		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	430										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TCTTTGCCTCCTCTGGCTTGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	81	88			NA	NA	10		NA											NA				132915167		2203	4297	6500	SO:0001819	synonymous_variant			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769	256536	256536			23533	protein-coding gene	gene with protein product					NA		Standard	NM_174937	NM_174937	NA	Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1290G>A	10.37:g.132915167C>T		NA	Q5VWI2|Q86XM8	37	CCDS7662.2																																																																																			TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091619.2		-	ENST00000368642.4	Silent	SNP	10 : 132915167 - 132915167 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	101	29
TCF7	6932	broad.mit.edu	37	5	133478560	133478560	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:133478560A>T	ENST00000395029.1	+	7	1099	c.904A>T	c.(904-906)Atc>Ttc	p.I302F	TCF7_ENST00000518915.1_Missense_Mutation_p.I187F|TCF7_ENST00000342854.5_Missense_Mutation_p.I302F|TCF7_ENST00000432532.2_Missense_Mutation_p.I187F|TCF7_ENST00000395023.1_Missense_Mutation_p.I187F|TCF7_ENST00000378564.1_Missense_Mutation_p.I302F|TCF7_ENST00000321603.6_Missense_Mutation_p.I302F|TCF7_ENST00000378560.4_Missense_Mutation_p.I187F|TCF7_ENST00000321584.4_Missense_Mutation_p.I302F|TCF7_ENST00000520958.1_Missense_Mutation_p.I187F			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	302					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATCAACCAGATCCTGGGCCG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	106	110			NA	NA	5		NA											NA				133478560		2203	4300	6503	SO:0001583	missense			Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059	6932	6932			11639	protein-coding gene	gene with protein product		189908			NA		Standard	NM_201634	NM_003202	NA	Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000395029.1:c.904A>T	5.37:g.133478560A>T	ENSP00000378472:p.Ile302Phe	NA	B3KSH3|Q86WR9|Q9UKI4	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	23.8|23.8|23.8	4.461467|4.461467|4.461467	0.84317|0.84317|0.84317	.|.|.	.|.|.	ENSG00000081059|ENSG00000081059|ENSG00000081059	ENST00000517855|ENST00000342854;ENST00000361590;ENST00000321603;ENST00000321584;ENST00000378564;ENST00000395029;ENST00000378560;ENST00000432532;ENST00000520958;ENST00000518915;ENST00000395023;ENST00000517799|ENST00000520699	.|D;D;D;D;D;D;D;D;D;D;D|.	.|0.98178|.	.|-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77|.	5.82|5.82|5.82	5.82|5.82|5.82	0.92795|0.92795|0.92795	.|High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|D	0.83344|0.83344|0.83344	0.5234|0.5234|0.5234	M|M|M	0.88570|0.88570|0.88570	2.965|2.965|2.965	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D;D;D|.	.|0.89917|.	.|0.999;0.997;1.0;0.987;1.0;0.999|.	.|D;D;D;D;D;D|.	.|0.91635|.	.|0.993;0.991;0.999;0.979;0.998;0.994|.	D|D|D	0.86089|0.86089|0.86089	0.1549|0.1549|0.1549	5|10|5	.|0.87932|.	.|D|.	.|0|.	.|.|.	16.1728|16.1728|16.1728	0.81831|0.81831|0.81831	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|116;302;302;100;302;302|.	.|B3KSI6;P36402-9;B7WNT5;B3KQ75;P36402;P36402-5|.	.|.;.;.;.;TCF7_HUMAN;.|.	V|F|S	90|302;302;302;302;302;302;187;187;187;187;187;80|26	.|ENSP00000340347:I302F;ENSP00000326654:I302F;ENSP00000326540:I302F;ENSP00000367827:I302F;ENSP00000378472:I302F;ENSP00000367822:I187F;ENSP00000397946:I187F;ENSP00000429547:I187F;ENSP00000430179:I187F;ENSP00000378469:I187F;ENSP00000427968:I80F|.	.|ENSP00000326540:I302F|.	D|I|R	+|+|+	2|1|3	0|0|2	TCF7|TCF7|TCF7	133506459|133506459|133506459	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.832000|0.832000|0.832000	0.47134|0.47134|0.47134	9.339000|9.339000|9.339000	0.96797|0.96797|0.96797	2.228000|2.228000|2.228000	0.72767|0.72767|0.72767	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAT|ATC|AGA	TCF7-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000251173.1		+	ENST00000395029.1	Missense_Mutation	SNP	5 : 133478560 - 133478560 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	243	26
TECTB	6975	broad.mit.edu	37	10	114063060	114063060	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:114063060C>T	ENST00000369422.3	+	10	980	c.980C>T	c.(979-981)gCc>gTc	p.A327V		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	327						anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GGGATTTGTGCCGTGTTATAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													223	187	199			NA	NA	10		NA											NA				114063060		2203	4300	6503	SO:0001583	missense			AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913	6975	6975			11721	protein-coding gene	gene with protein product		602653			NA	9079715	Standard	NM_058222	NM_058222	NA	Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.980C>T	10.37:g.114063060C>T	ENSP00000358430:p.Ala327Val	NA	Q5VW53	37	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251165	0.39797	.	.	ENSG00000119913	ENST00000369422	T	0.75589	-0.95	5.78	1.76	0.24704	.	0.746210	0.13690	N	0.369629	T	0.54886	0.1886	N	0.24115	0.695	0.23411	N	0.99774	B	0.02656	0.0	B	0.01281	0.0	T	0.33317	-0.9873	10	0.16896	T	0.51	.	6.9036	0.24297	0.0:0.5419:0.3028:0.1552	.	327	Q96PL2	TECTB_HUMAN	V	327	ENSP00000358430:A327V	ENSP00000358430:A327V	A	+	2	0	TECTB	114053050	0.614000	0.27017	0.009000	0.14445	0.004000	0.04260	1.175000	0.31944	0.127000	0.18452	0.655000	0.94253	GCC	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050381.1		+	ENST00000369422.3	Missense_Mutation	SNP	10 : 114063060 - 114063060 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	865	6
TFAP2B	7021	broad.mit.edu	37	6	50807925	50807925	+	Missense_Mutation	SNP	G	G	A	rs140210899	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:50807925G>A	ENST00000393655.3	+	6	1166	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	TFAP2B_ENST00000263046.4_Missense_Mutation_p.A342T	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	333					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GGAGTTTCCCGCCAAAGCCGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(116;1373 2332 5475 10752)							NA				0													119	128	125			NA	NA	6		NA											NA				50807925		2203	4300	6503	SO:0001583	missense			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196	7021	7021			11743	protein-coding gene	gene with protein product		601601	transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)		NA	7555706, 8661133	Standard	NM_003221	NM_003221	NA	Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.997G>A	6.37:g.50807925G>A	ENSP00000377265:p.Ala333Thr	NA	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	37	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744045	0.69418	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.96992	-4.2;-4.2	5.67	5.67	0.87782	Transcription factor AP-2, C-terminal (1);	0.051753	0.85682	D	0.000000	D	0.94915	0.8356	M	0.77820	2.39	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	D	0.91532	0.5243	10	0.59425	D	0.04	-16.997	19.7769	0.96398	0.0:0.0:1.0:0.0	.	333	Q92481	AP2B_HUMAN	T	333;342	ENSP00000377265:A333T;ENSP00000263046:A342T	ENSP00000263046:A342T	A	+	1	0	TFAP2B	50915884	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.497000	0.66924	2.692000	0.91855	0.655000	0.94253	GCC	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040886.3		+	ENST00000393655.3	Missense_Mutation	SNP	6 : 50807925 - 50807925 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	784	7
TG	7038	broad.mit.edu	37	8	134125688	134125688	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:134125688G>A	ENST00000220616.4	+	44	7635	c.7595G>A	c.(7594-7596)cGg>cAg	p.R2532Q	TG_ENST00000377869.1_Missense_Mutation_p.R2475Q|TG_ENST00000542445.1_Missense_Mutation_p.R902Q|TG_ENST00000519543.1_Missense_Mutation_p.R665Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2532					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGTCGAGGCCGGACCAGTAGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	79	77			NA	NA	8		NA											NA				134125688		2203	4300	6503	SO:0001583	missense			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832	7038	7038			11764	protein-coding gene	gene with protein product		188450			NA		Standard	NM_003235	NM_003235	NA	Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7595G>A	8.37:g.134125688G>A	ENSP00000220616:p.Arg2532Gln	NA	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686638	0.88639	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	4.83	4.83	0.62350	Carboxylesterase, type B (1);	0.497463	0.18205	N	0.148365	T	0.80336	0.4604	M	0.63428	1.95	0.37166	D	0.902838	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77557	0.99;0.984;0.976	D	0.84497	0.0614	10	0.87932	D	0	.	17.2863	0.87142	0.0:0.0:1.0:0.0	.	665;902;2532	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	Q	2475;1338;2532;902;665	ENSP00000367100:R2475Q;ENSP00000220616:R2532Q;ENSP00000441693:R902Q;ENSP00000430430:R665Q	ENSP00000220616:R2532Q	R	+	2	0	TG	134194870	1.000000	0.71417	0.990000	0.47175	0.813000	0.45954	7.210000	0.77924	2.381000	0.81170	0.655000	0.94253	CGG	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379606.1		+	ENST00000220616.4	Missense_Mutation	SNP	8 : 134125688 - 134125688 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	430	5
THBD	7056	broad.mit.edu	37	20	23029062	23029062	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:23029062G>A	ENST00000377103.2	-	1	1316	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	360	EGF-like 3; calcium-binding (Potential).				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	CCACACACTCGCCGTCCACCA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	57	61			NA	NA	20		NA											NA				23029062		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726	7056	7056		CD molecules	11784	protein-coding gene	gene with protein product		188040			NA		Standard		NM_000361	NA	Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1080C>T	20.37:g.23029062G>A		NA	Q8IV29|Q9UC32	37	CCDS13148.1																																																																																			THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078307.2		-	ENST00000377103.2	Silent	SNP	20 : 23029062 - 23029062 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	393	75
TIGD3	220359	broad.mit.edu	37	11	65123359	65123368	+	Frame_Shift_Del	DEL	CCAAGATGTC	CCAAGATGTC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	CCAAGATGTC	CCAAGATGTC	-	-	CCAAGATGTC	CCAAGATGTC	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:65123359_65123368delCCAAGATGTC	ENST00000309880.5	+	2	287_296	c.80_89delCCAAGATGTC	c.(79-90)tccaagatgtccfs	p.SKMS27fs		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	27	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CTGGATGAGTCCAAGATGTCCCAGTCGGAG	0.619		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant				CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825	220359	220359			18334	protein-coding gene	gene with protein product					NA		Standard	NM_145719	NM_145719	NA	Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.80_89delCCAAGATGTC	11.37:g.65123359_65123368delCCAAGATGTC	ENSP00000308354:p.Ser27fs	NA		37	CCDS8101.1																																																																																			TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387310.1		+	ENST00000309880.5	Frame_Shift_Del	DEL	11 : 65123359 - 65123368 - PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	413	20
TMEM255A	55026	broad.mit.edu	37	X	119425154	119425154	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chrX:119425154C>T	ENST00000371369.4	-	4	532	c.306G>A	c.(304-306)gcG>gcA	p.A102A	TMEM255A_ENST00000440464.1_Silent_p.A102A|TMEM255A_ENST00000309720.5_Silent_p.A102A	NM_001104544.1	NP_001098014.1			transmembrane protein 255A	NA											NA						AACAAAAAGCCGCAATCACAC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	60	68			NA	NA	X		NA											NA				119425154		2203	4300	6503	SO:0001819	synonymous_variant			BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355	55026	55026			26086	protein-coding gene	gene with protein product			family with sequence similarity 70, member A	FAM70A	NA	12477932	Standard	NM_017938	NM_017938	NA	Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000371369.4:c.306G>A	X.37:g.119425154C>T		NA		37	CCDS43986.1																																																																																			TMEM255A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058092.1		-	ENST00000371369.4	Silent	SNP	X : 119425154 - 119425154 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	14	68
TMX2	51075	broad.mit.edu	37	11	57506679	57506679	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:57506679C>T	ENST00000278422.4	+	7	703	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	TMX2_ENST00000378312.4_Missense_Mutation_p.R193W|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	231	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GGAGGCAATGCGGCGGCCACA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	114	118			NA	NA	11		NA											NA				57506679		2201	4296	6497	SO:0001583	missense			AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593	51075	51075		Protein disulfide isomerases	30739	protein-coding gene	gene with protein product	protein disulfide isomerase family A, member 12		thioredoxin domain containing 14	TXNDC14	NA	12670024	Standard	NM_015959	NM_015959	NA	Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.691C>T	11.37:g.57506679C>T	ENSP00000278422:p.Arg231Trp	NA	B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	37	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.802031	0.70682	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T;T	0.28666	1.6;1.6	5.49	4.55	0.56014	Thioredoxin-like fold (3);	0.067156	0.56097	U	0.000038	T	0.62245	0.2412	M	0.91354	3.2	0.80722	D	1	P;D	0.89917	0.927;1.0	P;D	0.97110	0.504;1.0	T	0.70288	-0.4913	9	.	.	.	-13.4074	13.1262	0.59356	0.2872:0.7128:0.0:0.0	.	193;231	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	W	193;231	ENSP00000367562:R193W;ENSP00000278422:R231W	.	R	+	1	2	TMX2	57263255	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.049000	0.49869	2.583000	0.87209	0.561000	0.74099	CGG	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393708.1		+	ENST00000278422.4	Missense_Mutation	SNP	11 : 57506679 - 57506679 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	578	5
TNFRSF19	55504	broad.mit.edu	37	13	24200926	24200926	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:24200926C>T	ENST00000382263.3	+	5	624	c.440C>T	c.(439-441)cCg>cTg	p.P147L	TNFRSF19_ENST00000382258.4_Missense_Mutation_p.P147L|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.P15L|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.P147L	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	147					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CCTTACGAACCGCACTGTGAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	99	85	90		440,44,440,440	5.5	0.9	13		90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	TNFRSF19	NM_001204458.1,NM_001204459.1,NM_018647.3,NM_148957.3	98,98,98,98	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	147/418,15/286,147/424,147/418	24200926	1,13005	2203	4300	6503	SO:0001583	missense			AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863	55504	55504		Tumor necrosis factor receptor superfamily	11915	protein-coding gene	gene with protein product	toxicity and JNK inducer	606122			NA	10764796, 10809768	Standard	NM_018647	NM_018647	NA	Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382263.3:c.440C>T	13.37:g.24200926C>T	ENSP00000371698:p.Pro147Leu	NA	B1AM40|B1AM41|Q9BXZ9|Q9BY00|Q9NZV2	37	CCDS9301.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474459	0.63737	0.0	1.16E-4	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.52	5.52	0.82312	.	0.049178	0.85682	D	0.000000	T	0.49321	0.1550	M	0.74881	2.28	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.984;0.978	T	0.43065	-0.9414	10	0.48119	T	0.1	-16.8742	19.0446	0.93015	0.0:1.0:0.0:0.0	.	15;147;147	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	L	147;15;147;147	ENSP00000248484:P147L;ENSP00000385408:P15L;ENSP00000371693:P147L;ENSP00000371698:P147L	ENSP00000248484:P147L	P	+	2	0	TNFRSF19	23098926	1.000000	0.71417	0.926000	0.36857	0.092000	0.18411	6.410000	0.73294	2.608000	0.88229	0.585000	0.79938	CCG	TNFRSF19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044157.2		+	ENST00000382263.3	Missense_Mutation	SNP	13 : 24200926 - 24200926 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	282	102
TOP2B	7155	broad.mit.edu	37	3	25668727	25668727	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:25668727C>T	ENST00000435706.2	-	16	2153	c.1952G>A	c.(1951-1953)cGc>cAc	p.R651H	TOP2B_ENST00000264331.4_Missense_Mutation_p.R656H			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	656					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	p.R651H(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						AAACAAGATGCGATGCCTTTC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)											169	169	169			NA	NA	3		NA											NA				25668727		1896	4110	6006	SO:0001583	missense			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	7155	7155	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	topoisomerase (DNA) II beta (180kD)		NA	1309226, 1333583	Standard		NM_001068	NA	Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000435706.2:c.1952G>A	3.37:g.25668727C>T	ENSP00000396704:p.Arg651His	NA	Q13600|Q9UMG8|Q9UQP8	37	CCDS46776.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420360	0.96111	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.54479	0.57;0.57	5.47	5.47	0.80525	.	0.047426	0.85682	D	0.000000	T	0.79667	0.4485	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.83665	0.0163	10	0.72032	D	0.01	-11.4448	19.6613	0.95875	0.0:1.0:0.0:0.0	.	651	Q02880-2	.	H	651;656;651	ENSP00000396704:R651H;ENSP00000264331:R656H	ENSP00000264331:R656H	R	-	2	0	TOP2B	25643731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.702000	0.84576	2.711000	0.92665	0.650000	0.86243	CGC	TOP2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340821.1		-	ENST00000435706.2	Missense_Mutation	SNP	3 : 25668727 - 25668727 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	897	389
TPP2	7174	broad.mit.edu	37	13	103298740	103298740	+	Splice_Site	SNP	A	A	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:103298740A>C	ENST00000376052.3	+	20	2506	c.2490A>C	c.(2488-2490)caA>caC	p.Q830H	TPP2_ENST00000376065.4_Splice_Site_p.Q830H			P29144	TPP2_HUMAN	tripeptidyl peptidase II	830					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTTTCATCAAGTAAGTGTTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	90	94			NA	NA	13		NA											NA				103298740		2203	4300	6503	SO:0001630	splice_region_variant			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	7174	7174	3.4.14.10		12016	protein-coding gene	gene with protein product		190470			NA	1670990	Standard		NM_003291	NA	Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376052.3:c.2490+1A>C	13.37:g.103298740A>C		NA	Q5VZU8	37		.	.	.	.	.	.	.	.	.	.	A	18.68	3.675990	0.67928	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.98	-0.152	0.13407	Peptidase S8A, tripeptidyl peptidase II (1);	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.73672	-0.3909	9	0.72032	D	0.01	.	11.9267	0.52823	0.4853:0.0:0.5147:0.0	.	830	P29144	TPP2_HUMAN	H	830	.	ENSP00000365220:Q830H	Q	+	3	2	TPP2	102096741	0.999000	0.42202	0.996000	0.52242	0.993000	0.82548	0.595000	0.24029	-0.206000	0.10203	0.482000	0.46254	CAA	TPP2-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000045684.2	Missense_Mutation	+	ENST00000376052.3	Splice_Site	SNP	13 : 103298740 - 103298740 C PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	272	87
TRPS1	7227	broad.mit.edu	37	8	116599641	116599641	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:116599641G>A	ENST00000395715.3	-	5	2864	c.2287C>T	c.(2287-2289)Cta>Tta	p.L763L	TRPS1_ENST00000220888.5_Silent_p.L750L|TRPS1_ENST00000519674.1_Silent_p.L750L|TRPS1_ENST00000520276.1_Silent_p.L754L|TRPS1_ENST00000519076.1_Silent_p.L504L	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	750	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCTGGAGTTAGCAGATTGTAG	0.498		NA							Langer-Giedion syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	201	199			NA	NA	8		NA											NA				116599641		1946	4144	6090	SO:0001819	synonymous_variant	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447	7227	7227		GATA zinc finger domain containing, Zinc fingers, C2H2-type	12340	protein-coding gene	gene with protein product		604386			NA	8530105, 10615131, 10647898	Standard	NM_014112	NM_001282903	NA	Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000395715.3:c.2287C>T	8.37:g.116599641G>A		NA	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	37	CCDS6318.2																																																																																			TRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286435.3		-	ENST00000395715.3	Silent	SNP	8 : 116599641 - 116599641 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1328	180
TTN	7273	broad.mit.edu	37	2	179546424	179546424	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:179546424G>A	ENST00000589042.1	-	136	33360	c.33136C>T	c.(33136-33138)Cca>Tca	p.P11046S	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P9802S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P10729S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10729	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGGAACTGGTTCTTCTGGG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	137	139			NA	NA	2		NA											NA				179546424		1812	4082	5894	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.33136C>T	2.37:g.179546424G>A	ENSP00000467141:p.Pro11046Ser	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444945	0.43429	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T;T	0.80994	-1.44;-0.02	5.53	5.53	0.82687	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	D	0.83622	0.5294	N	0.24115	0.695	0.80722	D	1	P;D	0.89917	0.856;1.0	P;D	0.71870	0.505;0.975	D	0.85682	0.1301	9	0.87932	D	0	.	18.0105	0.89221	0.0:0.0:1.0:0.0	.	10729;10465	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	S	9802;660	ENSP00000343764:P9802S;ENSP00000401501:P660S	ENSP00000343764:P9802S	P	-	1	0	TTN	179254669	0.514000	0.26202	0.997000	0.53966	0.978000	0.69477	2.942000	0.49018	2.775000	0.95449	0.585000	0.79938	CCA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179546424 - 179546424 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	619	33
TTN	7273	broad.mit.edu	37	2	179483531	179483531	+	Silent	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:179483531G>T	ENST00000589042.1	-	251	46970	c.46746C>A	c.(46744-46746)ggC>ggA	p.G15582G	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.G13014G|TTN_ENST00000460472.2_Silent_p.G6517G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.G6642G|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.G6709G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.G13941G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13941	Fibronectin type-III 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGAGGCTTGCCAACATCAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	73	73			NA	NA	2		NA											NA				179483531		1939	4144	6083	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.46746C>A	2.37:g.179483531G>T		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179483531 - 179483531 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	201	28
TUBA3C	7278	broad.mit.edu	37	13	19752465	19752465	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:19752465G>A	ENST00000400113.3	-	3	400	c.296C>T	c.(295-297)gCg>gTg	p.A99V		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	99					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATTATTGGCCGCATCTTCCTT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	168	178			NA	NA	13		NA											NA				19752465		2203	4300	6503	SO:0001583	missense			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033	7278	7278		Tubulins	12408	protein-coding gene	gene with protein product		602528	tubulin, alpha 2	TUBA2	NA	9465305	Standard	NM_006001	NM_006001	NA	Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.296C>T	13.37:g.19752465G>A	ENSP00000382982:p.Ala99Val	NA	A6NJQ0|Q5W099|Q6PEY3|Q96F18	37	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	13.23	2.174721	0.38413	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.74002	-0.8	1.53	1.53	0.23141	.	0.000000	0.46758	U	0.000271	T	0.77698	0.4169	.	.	.	0.45718	D	0.998626	.	.	.	.	.	.	T	0.78838	-0.2046	7	0.87932	D	0	.	9.0464	0.36349	0.0:0.0:1.0:0.0	.	.	.	.	V	99	ENSP00000382982:A99V	ENSP00000354037:A99V	A	-	2	0	TUBA3C	18650465	1.000000	0.71417	0.979000	0.43373	0.934000	0.57294	7.934000	0.87649	1.161000	0.42604	0.423000	0.28283	GCG	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044007.2		-	ENST00000400113.3	Missense_Mutation	SNP	13 : 19752465 - 19752465 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	923	7
UBAP2	55833	broad.mit.edu	37	9	33948659	33948659	+	Translation_Start_Site	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:33948659T>C	ENST00000379225.1	-	0	305				UBAP2_ENST00000379238.1_Intron|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000449054.1_Intron|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000418786.2_Intron|UBAP2_ENST00000360802.1_Intron			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	NA										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACATATCAAGTATTTTCACAA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA					AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073	55833	55833			14185	protein-coding gene	gene with protein product					NA	8871400	Standard	NM_018449	NM_018449	NA	Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379225.1:c.-119A>G	9.37:g.33948659T>C		NA	Q2M2R4|Q6PK34|Q8NC94|Q9P237	37																																																																																				UBAP2-008	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000207580.1		-	ENST00000379225.1	De_novo_Start_OutOfFrame	SNP	9 : 33948659 - 33948659 C PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	109	94
UBB	7314	broad.mit.edu	37	17	16285638	16285638	+	Silent	SNP	G	G	A	rs144617200		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:16285638G>A	ENST00000395837.1	+	2	598	c.417G>A	c.(415-417)aaG>aaA	p.K139K	UBB_ENST00000578649.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.K139K|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.K139K	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	139	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		ACATCCAGAAGGAGTCGACCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(163;1126 3406 34901)							NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant				CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315	7314	7314			12463	protein-coding gene	gene with protein product	polyubiquitin B	191339			NA	2154095	Standard	NM_018955	NM_018955	NA	Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.417G>A	17.37:g.16285638G>A		NA	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	37	CCDS11177.1																																																																																			UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130459.1		+	ENST00000395837.1	Silent	SNP	17 : 16285638 - 16285638 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	561	5
UGT1A3	54659	broad.mit.edu	37	2	234638369	234638369	+	Silent	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:234638369A>G	ENST00000482026.1	+	1	616	c.597A>G	c.(595-597)acA>acG	p.T199T	UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609767.1_Silent_p.T199T|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron					UDP glucuronosyltransferase 1 family, polypeptide A3	NA								p.T199T(8)		breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GATTACTAACAACCAATTCAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				8	Substitution - coding silent(8)	kidney(8)											219	210	213			NA	NA	2		NA											NA				234638369		2203	4300	6503	SO:0001819	synonymous_variant			M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135	54659	54659		UDP glucuronosyltransferases	12535	other	complex locus constituent		606428	UDP glycosyltransferase 1 family, polypeptide A3		NA	9295054, 1339448, 11434514	Standard	NM_019093	NM_019093	NA	Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.597A>G	2.37:g.234638369A>G		NA		37	CCDS2509.1																																																																																			UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130983.1		+	ENST00000482026.1	Silent	SNP	2 : 234638369 - 234638369 G PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	1012	7
VPS13A	23230	broad.mit.edu	37	9	79966268	79966268	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:79966268G>A	ENST00000360280.3	+	53	7585	c.7325G>A	c.(7324-7326)gGt>gAt	p.G2442D	VPS13A_ENST00000357409.5_Missense_Mutation_p.G2442D|VPS13A_ENST00000376634.4_Missense_Mutation_p.G2442D|VPS13A_ENST00000376636.3_Missense_Mutation_p.G2403D	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2442					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTCCCTCCTGGTAAAGCCGTG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	171	172			NA	NA	9		NA											NA				79966268		2203	4300	6503	SO:0001583	missense			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969	23230	23230			1908	protein-coding gene	gene with protein product	chorein	605978	chorea acanthocytosis, vacuolar protein sorting 13A (yeast)	CHAC	NA	9382101, 11381253	Standard	NM_015186	NM_001018038	NA	Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7325G>A	9.37:g.79966268G>A	ENSP00000353422:p.Gly2442Asp	NA	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771926	0.69992	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.49	3.65	0.41850	Vacuolar protein sorting-associated protein (1);	0.131336	0.51477	D	0.000095	T	0.48021	0.1477	M	0.80183	2.485	0.80722	D	1	P;D;D;D	0.69078	0.925;0.997;0.996;0.996	P;D;D;D	0.69654	0.786;0.965;0.921;0.921	T	0.48581	-0.9023	10	0.18710	T	0.47	.	5.9851	0.19430	0.1934:0.0:0.659:0.1476	.	2403;2442;2442;2442	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	D	2442;2403;2442;2442	ENSP00000365821:G2442D;ENSP00000365823:G2403D;ENSP00000353422:G2442D;ENSP00000349985:G2442D	ENSP00000349985:G2442D	G	+	2	0	VPS13A	79156088	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.688000	0.68227	0.675000	0.31264	0.555000	0.69702	GGT	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052753.2		+	ENST00000360280.3	Missense_Mutation	SNP	9 : 79966268 - 79966268 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	875	65
VWA2	340706	broad.mit.edu	37	10	116045781	116045781	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:116045781C>T	ENST00000392982.3	+	11	1331	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	VWA2_ENST00000603594.1_Missense_Mutation_p.R361W			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	361	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CGGCTTCCTGCGGGCCAAAGT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	76	74			NA	NA	10		NA											NA				116045781		2203	4300	6503	SO:0001583	missense			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816	340706	340706			24709	protein-coding gene	gene with protein product					NA	15580307, 14506275	Standard	NM_198496	NM_001272046	NA	Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1081C>T	10.37:g.116045781C>T	ENSP00000376708:p.Arg361Trp	NA	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	37		.	.	.	.	.	.	.	.	.	.	C	22.5	4.293428	0.80914	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.83755	-1.76	5.7	2.64	0.31445	von Willebrand factor, type A (3);	0.335009	0.31589	N	0.007382	D	0.88005	0.6321	M	0.79475	2.455	0.30867	N	0.732839	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.65323	0.923;0.934;0.891	D	0.85094	0.0953	10	0.66056	D	0.02	.	7.4549	0.27261	0.1256:0.6853:0.1213:0.0679	.	57;361;361	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	W	361	ENSP00000376708:R361W	ENSP00000298715:R361W	R	+	1	2	VWA2	116035771	1.000000	0.71417	0.986000	0.45419	0.895000	0.52256	3.791000	0.55469	0.729000	0.32403	0.563000	0.77884	CGG	VWA2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000050456.3		+	ENST00000392982.3	Missense_Mutation	SNP	10 : 116045781 - 116045781 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	968	6
WNT3A	89780	broad.mit.edu	37	1	228238532	228238532	+	Silent	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:228238532G>T	ENST00000284523.1	+	3	567	c.489G>T	c.(487-489)ggG>ggT	p.G163G	WNT3A_ENST00000366753.2_Silent_p.G163G	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	163					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				AGTTTGGTGGGATGGTGTCTC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	102	104			NA	NA	1		NA											NA				228238532		2203	4300	6503	SO:0001819	synonymous_variant			AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342	89780	89780		Wingless-type MMTV integration sites, Endogenous ligands	15983	protein-coding gene	gene with protein product		606359			NA	11414706	Standard	NM_033131	NM_033131	NA	Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.489G>T	1.37:g.228238532G>T		NA	Q3SY80|Q969P2	37	CCDS1564.1																																																																																			WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091648.1		+	ENST00000284523.1	Silent	SNP	1 : 228238532 - 228238532 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	513	16
WNT5A	7474	broad.mit.edu	37	3	55508500	55508500	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:55508500G>A	ENST00000474267.1	-	5	1070	c.549C>T	c.(547-549)ggC>ggT	p.G183G	WNT5A_ENST00000497027.1_Silent_p.G168G|WNT5A_ENST00000264634.4_Silent_p.G183G			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	183					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CGATGTTGTCGCCGCAGCCGC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	11	10			NA	NA	3		NA											NA				55508500		1904	4083	5987	SO:0001819	synonymous_variant			L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251	7474	7474		Wingless-type MMTV integration sites, Endogenous ligands	12784	protein-coding gene	gene with protein product	WNT-5A protein	164975			NA	8288227	Standard	NM_003392	NM_001256105	NA	Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.549C>T	3.37:g.55508500G>A		NA	A8K4A4|Q6P278	37	CCDS46850.1																																																																																			WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350793.3		-	ENST00000474267.1	Silent	SNP	3 : 55508500 - 55508500 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	105	47
XPOT	11260	broad.mit.edu	37	12	64812808	64812808	+	Silent	SNP	C	C	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:64812808C>G	ENST00000332707.5	+	6	952	c.423C>G	c.(421-423)ctC>ctG	p.L141L		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	141	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.L141L(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GAGTAGATCTCTACCTGCGAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	kidney(1)											129	128	128			NA	NA	12		NA											NA				64812808		2203	4300	6503	SO:0001819	synonymous_variant			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575	11260	11260		Exportins	12826	protein-coding gene	gene with protein product		603180	exportin, tRNA (nuclear export receptor for tRNAs)		NA	9660920, 9512417	Standard	NM_007235	NM_007235	NA	Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.423C>G	12.37:g.64812808C>G		NA	A6NLH1|O43784|Q8WUG2|Q9BVS7	37	CCDS31852.1																																																																																			XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401122.1		+	ENST00000332707.5	Silent	SNP	12 : 64812808 - 64812808 G PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	379	6
ZBTB10	65986	broad.mit.edu	37	8	81399879	81399879	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:81399879C>T	ENST00000430430.1	+	2	1613	c.834C>T	c.(832-834)acC>acT	p.T278T	ZBTB10_ENST00000455036.3_Silent_p.T278T|ZBTB10_ENST00000426744.2_Silent_p.T278T|ZBTB10_ENST00000379091.4_Intron	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	278					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			GCCAAAAGACCCCTGCAGATG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	39	38			NA	NA	8		NA											NA				81399879		1933	4120	6053	SO:0001819	synonymous_variant			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189	65986	65986		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	30953	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_023929	NM_001105539	NA	Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.834C>T	8.37:g.81399879C>T		NA	A4FVD0|Q86W96|Q8IXI9|Q96MH9	37	CCDS47880.1																																																																																			ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338055.2		+	ENST00000430430.1	Silent	SNP	8 : 81399879 - 81399879 T PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	188	9
ZNF318	24149	broad.mit.edu	37	6	43316256	43316256	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:43316256G>A	ENST00000361428.2	-	6	2955	c.2878C>T	c.(2878-2880)Cgg>Tgg	p.R960W	ZNF318_ENST00000318149.3_Missense_Mutation_p.R960W	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	960					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCCTCTTGCCGTAGCTCTGCA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													229	199	209			NA	NA	6		NA											NA				43316256		2203	4300	6503	SO:0001583	missense			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467	24149	24149		Zinc fingers, C2H2-type	13578	protein-coding gene	gene with protein product					NA	10873617	Standard	NM_014345	NM_014345	NA	Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2878C>T	6.37:g.43316256G>A	ENSP00000354964:p.Arg960Trp	NA	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181629	0.78677	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.38240	1.15;2.48	6.03	5.15	0.70609	.	0.216185	0.39759	N	0.001275	T	0.30448	0.0765	L	0.27053	0.805	0.31399	N	0.676859	D	0.89917	1.0	D	0.67231	0.95	T	0.29882	-0.9997	10	0.87932	D	0	-1.1854	10.7823	0.46384	0.0:0.1273:0.6091:0.2636	.	960	Q5VUA4	ZN318_HUMAN	W	960	ENSP00000323032:R960W;ENSP00000354964:R960W	ENSP00000323032:R960W	R	-	1	2	ZNF318	43424234	0.999000	0.42202	0.962000	0.40283	0.988000	0.76386	4.402000	0.59722	1.533000	0.49186	0.655000	0.94253	CGG	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040601.2		-	ENST00000361428.2	Missense_Mutation	SNP	6 : 43316256 - 43316256 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	860	7
ZNF398	57541	broad.mit.edu	37	7	148851398	148851398	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:148851398G>A	ENST00000475153.1	+	2	653	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.R134Q			Q8TD17	ZN398_HUMAN	zinc finger protein 398	129					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TGGATCCTGCGGCTCCCTCCA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	50	49			NA	NA	7		NA											NA				148851398		2203	4300	6503	SO:0001583	missense			AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024	NA	57541		Zinc fingers, C2H2-type, -	18373	protein-coding gene	gene with protein product					NA	11779858	Standard		NM_170686	NA	Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.386G>A	7.37:g.148851398G>A	ENSP00000420418:p.Arg129Gln	NA	A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	37	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950016	0.92660	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.10099	2.91;2.93	5.18	5.18	0.71444	.	0.000000	0.45126	D	0.000395	T	0.29491	0.0735	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.968;0.992	T	0.00548	-1.1677	10	0.48119	T	0.1	-22.5854	14.2249	0.65853	0.0:0.0:1.0:0.0	.	134;129	B4DXA9;Q8TD17	.;ZN398_HUMAN	Q	129;134	ENSP00000420418:R129Q;ENSP00000439340:R134Q	ENSP00000420418:R129Q	R	+	2	0	ZNF398	148482331	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.370000	0.44240	2.420000	0.82092	0.655000	0.94253	CGG	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352722.2		+	ENST00000475153.1	Missense_Mutation	SNP	7 : 148851398 - 148851398 A PAAD-TCGA-HV-A7OP-Tumor-SM-5437A	290	222
