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
ABCG4	64137	broad.mit.edu	37	11	119020905	119020905	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr11:119020905G>A	ENST00000449422.2	+	2	418	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ABCG4_ENST00000531739.1_Missense_Mutation_p.R77H|ABCG4_ENST00000307417.3_Missense_Mutation_p.R77H	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	77	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCTGCTGGCGCAAAAGGGGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	75	72			NA	NA	11		NA											NA				119020905		2200	4295	6495	SO:0001583	missense			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350	64137	64137		ATP binding cassette transporters / subfamily G	13884	protein-coding gene	gene with protein product	putative ABC transporter, ATP-binding cassette, subfamily G, member 4	607784			NA	11435397	Standard	NM_022169	NM_022169	NA	Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.230G>A	11.37:g.119020905G>A	ENSP00000406874:p.Arg77His	NA	A8K1B5	37	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366993	0.82463	.	.	ENSG00000172350	ENST00000307417;ENST00000524604;ENST00000449422;ENST00000531739	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	4.34	4.34	0.51931	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.11281	0.0275	L	0.35487	1.065	0.53688	D	0.999975	D	0.67145	0.996	P	0.47470	0.548	T	0.06807	-1.0806	10	0.51188	T	0.08	-22.516	17.1003	0.86647	0.0:0.0:1.0:0.0	.	77	Q9H172	ABCG4_HUMAN	H	77	ENSP00000304111:R77H;ENSP00000431915:R77H;ENSP00000406874:R77H;ENSP00000434318:R77H	ENSP00000304111:R77H	R	+	2	0	ABCG4	118526115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.502000	0.66956	2.272000	0.75746	0.644000	0.83932	CGC	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388215.1		+	ENST00000449422.2	Missense_Mutation	SNP	11 : 119020905 - 119020905 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	636	7
ADAMTS19	171019	broad.mit.edu	37	5	128983576	128983576	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr5:128983576G>A	ENST00000274487.4	+	12	2118	c.1973G>A	c.(1972-1974)cGc>cAc	p.R658H	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	658	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGTCGAGAGCGCAAATGTCCT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	123	121	122		1973	4.6	1	5		122	0,8600		0,0,4300	no	missense	ADAMTS19	NM_133638.3	29	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	658/1208	128983576	1,13005	2203	4300	6503	SO:0001583	missense			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808	171019	171019		ADAM metallopeptidases with thrombospondin type 1 motif	17111	protein-coding gene	gene with protein product		607513	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19		NA	11867212	Standard	NM_133638	NM_133638	NA	Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1973G>A	5.37:g.128983576G>A	ENSP00000274487:p.Arg658His	NA		37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663990	0.88251	2.27E-4	0.0	ENSG00000145808	ENST00000274487	T	0.65364	-0.15	4.58	4.58	0.56647	.	0.000000	0.64402	D	0.000002	D	0.85613	0.5737	H	0.95043	3.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89721	0.3919	9	.	.	.	.	18.693	0.91590	0.0:0.0:1.0:0.0	.	658	Q8TE59	ATS19_HUMAN	H	658	ENSP00000274487:R658H	.	R	+	2	0	ADAMTS19	129011475	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.292000	0.78731	2.831000	0.97527	0.650000	0.86243	CGC	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250979.2		+	ENST00000274487.4	Missense_Mutation	SNP	5 : 128983576 - 128983576 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	601	5
ALG1	56052	broad.mit.edu	37	16	5129756	5129756	+	Silent	SNP	A	A	G			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr16:5129756A>G	ENST00000588623.1	+	10	1676	c.576A>G	c.(574-576)gaA>gaG	p.E192E	ALG1_ENST00000544428.1_Silent_p.E192E|ALG1_ENST00000262374.5_Silent_p.E303E			Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	303					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	p.E303E(3)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CAGAGTTTGAACAACTGACTC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - coding silent(3)	lung(2)|urinary_tract(1)											89	85	87			NA	NA	16		NA											NA				5129756		2197	4300	6497	SO:0001819	synonymous_variant			AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	56052	56052	2.4.1.142	Glycosyltransferase group 1 domain containing	18294	protein-coding gene	gene with protein product		605907	asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase), asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)		NA	10704531	Standard	NM_019109	NM_019109	NA	Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000588623.1:c.576A>G	16.37:g.5129756A>G		NA	Q6UVZ9|Q8N5Y4|Q9P2Y2	37																																																																																				ALG1-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000435450.2		+	ENST00000588623.1	Silent	SNP	16 : 5129756 - 5129756 G PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	606	5
ANAPC1	64682	broad.mit.edu	37	2	112625621	112625621	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr2:112625621G>C	ENST00000341068.3	-	7	1436	c.664C>G	c.(664-666)Cca>Gca	p.P222A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	222					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.P222A(3)		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						CAAACAAGTGGAGTTATTTCA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	lung(1)|prostate(1)|central_nervous_system(1)											56	60	59			NA	NA	2		NA											NA				112625621		2203	4298	6501	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.664C>G	2.37:g.112625621G>C	ENSP00000339109:p.Pro222Ala	NA	Q2M3H8|Q9BSE6|Q9H8D0	37	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333736	0.81801	.	.	ENSG00000153107	ENST00000341068	.	.	.	4.32	4.32	0.51571	.	0.000000	0.44688	U	0.000438	T	0.77018	0.4069	M	0.72353	2.195	0.80722	D	1	D	0.65815	0.995	D	0.71656	0.974	T	0.76277	-0.3018	9	0.34782	T	0.22	-16.3573	17.3402	0.87293	0.0:0.0:1.0:0.0	.	222	Q9H1A4	APC1_HUMAN	A	222	.	ENSP00000339109:P222A	P	-	1	0	ANAPC1	112342092	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.290000	0.89925	2.381000	0.81170	0.557000	0.71058	CCA	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254045.2		-	ENST00000341068.3	Missense_Mutation	SNP	2 : 112625621 - 112625621 C PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	325	7
BRCA2	675	broad.mit.edu	37	13	32937431	32937431	+	Missense_Mutation	SNP	G	G	A	rs80359052	by1000genomes	TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr13:32937431G>A	ENST00000380152.3	+	18	8325	c.8092G>A	c.(8092-8094)Gca>Aca	p.A2698T	BRCA2_ENST00000544455.1_Missense_Mutation_p.A2698T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2698					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.S2697fs*31(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTCATTGAGCGCAAATATATC	0.378		NA	D, Mis, N, F, S		breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			G	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9049	LOWCOV,EXOME	NA	NA	6e-04	SNP	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		L, E	1	Deletion - Frameshift(1)	ovary(1)											102	100	101			NA	NA	13		NA											NA				32937431		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618	675	675		Fanconi anemia, complementation groups	1101	protein-coding gene	gene with protein product	BRCA1/BRCA2-containing complex, subunit 2	600185	Fanconi anemia, complementation group D1	FANCD1, FACD, FANCD	NA	8091231, 7581463, 15057823	Standard	NM_000059	NM_000059	NA	Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8092G>A	13.37:g.32937431G>A	ENSP00000369497:p.Ala2698Thr	NA	O00183|O15008|Q13879|Q5TBJ7	37	CCDS9344.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.016	-1.538764	0.00942	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.79845	-1.31;-1.31	5.38	2.97	0.34412	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 1 (1);	0.318221	0.34932	N	0.003566	T	0.41119	0.1145	N	0.00483	-1.445	0.09310	N	1	B	0.16802	0.019	B	0.06405	0.002	T	0.47935	-0.9078	10	0.02654	T	1	.	5.0883	0.14694	0.7144:0.0:0.1519:0.1337	.	2698	P51587	BRCA2_HUMAN	T	2698	ENSP00000369497:A2698T;ENSP00000439902:A2698T	ENSP00000369497:A2698T	A	+	1	0	BRCA2	31835431	0.000000	0.05858	0.006000	0.13384	0.360000	0.29518	-0.074000	0.11450	0.368000	0.24481	-0.373000	0.07131	GCA	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046000.2		+	ENST00000380152.3	Missense_Mutation	SNP	13 : 32937431 - 32937431 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	509	5
CACNA1G	8913	broad.mit.edu	37	17	48650204	48650204	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:48650204G>A	ENST00000352832.5	+	6	1408	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	CACNA1G_ENST00000514079.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A346T|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000359106.5_Missense_Mutation_p.A346T|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A346T|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A346T|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000515411.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000416767.4_Missense_Mutation_p.A346T|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A346T	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	346					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGCCTGGATCGCCATCTTCCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	64	63			NA	NA	17		NA											NA				48650204		2027	4158	6185	SO:0001583	missense			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283	8913	8913		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1394	protein-coding gene	gene with protein product		604065			NA	9495342, 16382099	Standard	NM_018896	NM_001256334	NA	Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000352832.5:c.1036G>A	17.37:g.48650204G>A	ENSP00000339302:p.Ala346Thr	NA	O43498|O94770|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	37	CCDS45735.1	.	.	.	.	.	.	.	.	.	.	g	35	5.424914	0.96131	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	5.82	5.82	0.92795	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97399	0.9149	L	0.31664	0.95	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.992;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.993;1.0;1.0;0.998;0.998;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;P;D	0.97110	0.997;0.999;1.0;0.998;1.0;0.999;0.998;1.0;0.998;0.947;1.0;0.999;1.0;1.0;0.998;0.998;0.958;0.999;1.0;0.996;0.861;1.0;0.994;0.961;0.906;0.929	D	0.98459	1.0595	10	0.87932	D	0	.	20.0852	0.97797	0.0:0.0:1.0:0.0	.	346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	T	346	ENSP00000353990:A346T;ENSP00000339302:A346T;ENSP00000392390:A346T;ENSP00000347078:A346T;ENSP00000409759:A346T;ENSP00000425522:A346T;ENSP00000426261:A346T;ENSP00000425451:A346T;ENSP00000422407:A346T;ENSP00000426814:A346T;ENSP00000427238:A346T;ENSP00000423112:A346T;ENSP00000420918:A346T;ENSP00000426172:A346T;ENSP00000423045:A346T;ENSP00000427173:A346T;ENSP00000426098:A346T;ENSP00000425698:A346T;ENSP00000426232:A346T;ENSP00000423317:A346T;ENSP00000350979:A346T;ENSP00000352011:A346T;ENSP00000414388:A346T;ENSP00000423155:A346T;ENSP00000422268:A346T;ENSP00000421518:A346T	ENSP00000339302:A346T	A	+	1	0	CACNA1G	46005203	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.408000	0.97327	2.756000	0.94617	0.561000	0.74099	GCC	CACNA1G-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367893.2		+	ENST00000352832.5	Missense_Mutation	SNP	17 : 48650204 - 48650204 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	255	5
CCIN	881	broad.mit.edu	37	9	36170278	36170278	+	Missense_Mutation	SNP	G	G	A	rs146585082	byFrequency	TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr9:36170278G>A	ENST00000335119.2	+	1	890	c.779G>A	c.(778-780)cGc>cAc	p.R260H		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	260					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.R260H(1)		breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CTGATGGACCGCAAGCAGGAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)						G	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	45	39	41		779	5.8	1	9	dbSNP_134	41	0,8600		0,0,4300	yes	missense	CCIN	NM_005893.2	29	0,5,6498	AA,AG,GG	NA	0.0,0.1135,0.0384	probably-damaging	260/589	36170278	5,13001	2203	4300	6503	SO:0001583	missense			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972	881	881		BTB/POZ domain containing	1568	protein-coding gene	gene with protein product		603960			NA	7641791	Standard	NM_005893	NM_005893	NA	Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.779G>A	9.37:g.36170278G>A	ENSP00000334996:p.Arg260His	NA	Q9BXG7	37	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922874	0.52653	0.001135	0.0	ENSG00000185972	ENST00000335119	T	0.66460	-0.21	5.84	5.84	0.93424	.	0.000000	0.51477	D	0.000083	T	0.71693	0.3370	L	0.29908	0.895	0.36921	D	0.891407	D	0.71674	0.998	D	0.72075	0.976	T	0.70872	-0.4754	10	0.25751	T	0.34	.	15.6397	0.76989	0.0:0.0:1.0:0.0	.	260	Q13939	CALI_HUMAN	H	260	ENSP00000334996:R260H	ENSP00000334996:R260H	R	+	2	0	CCIN	36160278	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.667000	0.68067	2.770000	0.95276	0.563000	0.77884	CGC	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052418.1		+	ENST00000335119.2	Missense_Mutation	SNP	9 : 36170278 - 36170278 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	141	4
CHD4	1108	broad.mit.edu	37	12	6710455	6710455	+	Splice_Site	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr12:6710455C>T	ENST00000544484.1	-	6	936	c.790G>A	c.(790-792)Ggt>Agt	p.G264S	CHD4_ENST00000544040.1_Splice_Site_p.G260S|CHD4_ENST00000309577.6_Splice_Site_p.G267S|CHD4_ENST00000357008.2_Splice_Site_p.G267S			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	267					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCCATTTCACCTTTGCCCTCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(32;586 792 4568 16848 45314)							NA				0													111	114	113			NA	NA	12		NA											NA				6710455		2203	4300	6503	SO:0001630	splice_region_variant			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642	1108	1108		Zinc fingers, PHD-type	1919	protein-coding gene	gene with protein product		603277			NA	7575689, 8843877	Standard	NM_001273	XM_006718958	NA	Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000544484.1:c.790+1G>A	12.37:g.6710455C>T		NA	Q8IXZ5	37		.	.	.	.	.	.	.	.	.	.	C	24.4	4.527638	0.85706	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	D;D;D;D;T	0.90069	-2.59;-2.61;-2.59;-2.61;0.5	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.94732	0.8300	M	0.82323	2.585	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.61	D;D;B	0.91635	0.999;0.999;0.256	D	0.94514	0.7721	9	.	.	.	-5.4851	16.8611	0.86018	0.0:0.872:0.128:0.0	.	267;267;260	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	S	264;260;267;267;241;267	ENSP00000440392:G264S;ENSP00000440542:G260S;ENSP00000312419:G267S;ENSP00000349508:G267S;ENSP00000437506:G267S	.	G	-	1	0	CHD4	6580716	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.612000	0.54142	2.705000	0.92388	0.555000	0.69702	GGT	CHD4-013	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000402631.1	Missense_Mutation	-	ENST00000544484.1	Splice_Site	SNP	12 : 6710455 - 6710455 T PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	858	22
CLCN6	1185	broad.mit.edu	37	1	11883815	11883815	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr1:11883815G>A	ENST00000346436.6	+	7	557	c.505G>A	c.(505-507)Gta>Ata	p.V169I	CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.V169I|CLCN6_ENST00000376487.3_Missense_Mutation_p.V147I|CLCN6_ENST00000312413.6_Missense_Mutation_p.V169I	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	169					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGAATGGCGTAAAGGTGCC	0.552		NA											G	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9049	EXOME	NA	NA	6e-04	SNP								NA				0													128	110	116			NA	NA	1		NA											NA				11883815		2203	4300	6503	SO:0001583	missense			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021	1185	1185		Ion channels / Chloride channels : Voltage-sensitive	2024	protein-coding gene	gene with protein product		602726	chloride channel 6		NA	8543009	Standard	NM_001286	NM_001286	NA	Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.505G>A	1.37:g.11883815G>A	ENSP00000234488:p.Val169Ile	NA	A8K1T4|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	37	CCDS138.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.13	3.555826	0.65425	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	5.97	5.97	0.96955	Chloride channel, core (2);	0.053524	0.85682	D	0.000000	D	0.89100	0.6619	N	0.25647	0.755	0.58432	D	0.99999	B;B;P;P;B	0.48503	0.105;0.442;0.911;0.823;0.128	B;B;B;B;B	0.36989	0.016;0.098;0.238;0.181;0.027	D	0.87899	0.2689	10	0.21014	T	0.42	-32.7531	17.5798	0.87963	0.0:0.0:1.0:0.0	.	147;169;169;169;169	F8W9R3;P51797-3;P51797-4;P51797-2;P51797	.;.;.;.;CLCN6_HUMAN	I	169;169;147;169;169;169;169	ENSP00000308367:V169I;ENSP00000234488:V169I;ENSP00000365670:V147I;ENSP00000365679:V169I	ENSP00000308367:V169I	V	+	1	0	CLCN6	11806402	1.000000	0.71417	0.979000	0.43373	0.847000	0.48162	9.459000	0.97638	2.828000	0.97474	0.655000	0.94253	GTA	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006639.2		+	ENST00000346436.6	Missense_Mutation	SNP	1 : 11883815 - 11883815 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	358	5
CYP2F1	1572	broad.mit.edu	37	19	41626275	41626275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr19:41626275C>T	ENST00000331105.2	+	4	430	c.358C>T	c.(358-360)Cga>Tga	p.R120*		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	120					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R120*(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CAGTGGGGATCGATGGAAGGT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	large_intestine(1)											97	92	94			NA	NA	19		NA											NA				41626275		2203	4300	6503	SO:0001587	stop_gained			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.358C>T	19.37:g.41626275C>T	ENSP00000333534:p.Arg120*	NA	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q8WWJ2	37	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.158827	0.38119	.	.	ENSG00000197446	ENST00000331105	.	.	.	4.25	0.388	0.16264	.	0.214943	0.38058	U	0.001821	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.2291	0.03992	0.3239:0.2949:0.2842:0.0969	.	.	.	.	X	120	.	ENSP00000333534:R120X	R	+	1	2	CYP2F1	46318115	0.000000	0.05858	0.189000	0.23252	0.189000	0.23516	-0.842000	0.04354	0.413000	0.25759	-0.335000	0.08231	CGA	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394527.2		+	ENST00000331105.2	Nonsense_Mutation	SNP	19 : 41626275 - 41626275 T PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	492	7
DDX10	1662	broad.mit.edu	37	11	108546412	108546412	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr11:108546412G>A	ENST00000526794.1	+	3	369	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	DDX10_ENST00000322536.3_Missense_Mutation_p.A113T			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	113	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	p.A113T(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		ACTTGGAGCGGCCAAAACTGG	0.438		NA	T	NUP98	AML*									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	1	Substitution - Missense(1)	kidney(1)											157	147	150			NA	NA	11		NA											NA				108546412		2201	4298	6499	SO:0001583	missense			U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105	1662	1662		DEAD-boxes	2735	protein-coding gene	gene with protein product		601235	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)		NA	8660968	Standard	NM_004398	NM_004398	NA	Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000526794.1:c.337G>A	11.37:g.108546412G>A	ENSP00000432032:p.Ala113Thr	NA	B2RCQ3|Q5BJD8	37		.	.	.	.	.	.	.	.	.	.	G	36	5.649371	0.96714	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.22539	1.95;1.95	5.82	5.82	0.92795	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.046541	0.85682	N	0.000000	T	0.53302	0.1788	H	0.95679	3.705	0.80722	D	1	P;P	0.48764	0.858;0.915	P;P	0.51055	0.657;0.657	T	0.67921	-0.5545	10	0.87932	D	0	-4.8073	20.1566	0.98115	0.0:0.0:1.0:0.0	.	113;113	Q13206;E9PIF2	DDX10_HUMAN;.	T	113	ENSP00000314348:A113T;ENSP00000432032:A113T	ENSP00000314348:A113T	A	+	1	0	DDX10	108051622	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.413000	0.97351	2.779000	0.95612	0.603000	0.83216	GCC	DDX10-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000390346.1		+	ENST00000526794.1	Missense_Mutation	SNP	11 : 108546412 - 108546412 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	618	5
DHRS13	147015	broad.mit.edu	37	17	27228119	27228119	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:27228119G>A	ENST00000394901.3	-	3	813	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	DHRS13_ENST00000378895.4_Missense_Mutation_p.R191W|DHRS13_ENST00000426464.2_Missense_Mutation_p.R110W			Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	191						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AGCTCCTGCCGCCAGCCCACC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	63	61			NA	NA	17		NA											NA				27228119		2203	4300	6503	SO:0001583	missense			BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	147015	147015	1.1.-.-	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2	28326	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 7C, member 5				NA	12975309, 19027726	Standard	NM_144683	NM_144683	NA	Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000394901.3:c.421C>T	17.37:g.27228119G>A	ENSP00000378361:p.Arg141Trp	NA	Q96BH7	37		.	.	.	.	.	.	.	.	.	.	G	18.06	3.538454	0.65085	.	.	ENSG00000167536	ENST00000378895;ENST00000394901;ENST00000426464	D;D;D	0.89617	-2.54;-2.54;-2.54	5.18	4.15	0.48705	NAD(P)-binding domain (1);	1.760290	0.02250	N	0.066486	D	0.85531	0.5718	L	0.40543	1.245	0.24342	N	0.994955	D;D	0.62365	0.991;0.964	B;B	0.43123	0.409;0.232	T	0.75042	-0.3457	10	0.51188	T	0.08	.	5.2688	0.15613	0.0981:0.0:0.5511:0.3509	.	110;191	B4DJC5;Q6UX07	.;DHR13_HUMAN	W	191;141;110	ENSP00000368173:R191W;ENSP00000378361:R141W;ENSP00000412826:R110W	ENSP00000368173:R191W	R	-	1	2	DHRS13	24252245	0.994000	0.37717	0.968000	0.41197	0.978000	0.69477	2.452000	0.44961	2.406000	0.81754	0.462000	0.41574	CGG	DHRS13-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000255953.1		-	ENST00000394901.3	Missense_Mutation	SNP	17 : 27228119 - 27228119 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	414	5
DNAH2	146754	broad.mit.edu	37	17	7734509	7734509	+	Silent	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:7734509C>T	ENST00000572933.1	+	80	13796	c.12336C>T	c.(12334-12336)ggC>ggT	p.G4112G	DNAH2_ENST00000389173.2_Silent_p.G4112G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4112					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGCCTTTGGCCAGCACCCCA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	160	158			NA	NA	17		NA											NA				7734509		2203	4300	6503	SO:0001819	synonymous_variant			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914	146754	146754		Axonemal dyneins	2948	protein-coding gene	gene with protein product		603333	dynein, axonemal, heavy polypeptide 2, dynein heavy chain domain 3	DNHD3	NA	9256245	Standard	NM_020877	XM_005256470	NA	Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12336C>T	17.37:g.7734509C>T		NA	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	37	CCDS32551.1																																																																																			DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440241.1		+	ENST00000572933.1	Silent	SNP	17 : 7734509 - 7734509 T PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	1183	8
EIF4ENIF1	56478	broad.mit.edu	37	22	31844167	31844167	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr22:31844167C>T	ENST00000344710.5	-	11	1452	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R262H|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R583H|EIF4ENIF1_ENST00000397525.1_Missense_Mutation_p.R607H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R607H	NM_001164502.1	NP_001157974.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	607						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CATGGGTTTGCGCATGCCTTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													242	210	221			NA	NA	22		NA											NA				31844167		2203	4300	6503	SO:0001583	missense			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708	56478	56478			16687	protein-coding gene	gene with protein product		607445			NA	10856257	Standard	NM_019843	NM_019843	NA	Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000344710.5:c.1295G>A	22.37:g.31844167C>T	ENSP00000342927:p.Arg432His	NA	B1AKL2|B2RBF1|Q8NCF2|Q9H708	37	CCDS54520.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713180	0.68730	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000418321	.	.	.	6.16	5.15	0.70609	.	0.182608	0.51477	D	0.000084	T	0.54902	0.1887	N	0.21373	0.66	0.40366	D	0.979293	D;D;B;B	0.89917	1.0;0.999;0.251;0.007	D;P;B;B	0.66602	0.945;0.903;0.03;0.011	T	0.52983	-0.8502	9	0.23891	T	0.37	-6.7681	12.949	0.58389	0.0:0.9262:0.0:0.0738	.	432;607;432;583	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	H	432;607;607;583;262;164	.	ENSP00000328103:R607H	R	-	2	0	EIF4ENIF1	30174167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.390000	0.34464	1.628000	0.50416	0.650000	0.86243	CGC	EIF4ENIF1-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000127925.1		-	ENST00000344710.5	Missense_Mutation	SNP	22 : 31844167 - 31844167 T PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	601	5
FOXN1	8456	broad.mit.edu	37	17	26861380	26861380	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:26861380G>A	ENST00000226247.2	+	6	988	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	FOXN1_ENST00000579795.1_Missense_Mutation_p.R320Q	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	320					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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	p.R320Q(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AATTCTGTCCGGCACAACCTA	0.577		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)											81	79	80			NA	NA	17		NA											NA				26861380		2203	4300	6503	SO:0001583	missense			Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101	8456	8456		Forkhead boxes	12765	protein-coding gene	gene with protein product		600838	winged-helix nude, Rowett nude	WHN, RONU	NA	9321431	Standard		NM_003593	NA	Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.959G>A	17.37:g.26861380G>A	ENSP00000226247:p.Arg320Gln	NA	B2R9Q7|O15352	37	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	G	36	5.679260	0.96774	.	.	ENSG00000109101	ENST00000226247	D	0.98060	-4.69	5.73	5.73	0.89815	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98166	1.0449	10	0.87932	D	0	.	19.8853	0.96910	0.0:0.0:1.0:0.0	.	320	O15353	FOXN1_HUMAN	Q	320	ENSP00000226247:R320Q	ENSP00000226247:R320Q	R	+	2	0	FOXN1	23885507	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.701000	0.92244	0.655000	0.94253	CGG	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255832.1		+	ENST00000226247.2	Missense_Mutation	SNP	17 : 26861380 - 26861380 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	380	6
GFER	2671	broad.mit.edu	37	16	2035947	2035947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr16:2035947G>A	ENST00000248114.6	+	3	542	c.536G>A	c.(535-537)cGc>cAc	p.R179H	GFER_ENST00000567719.1_Missense_Mutation_p.R104H|AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000569451.1_3'UTR	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	179	ERV/ALR sulfhydryl oxidase.				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity			endometrium(1)|large_intestine(1)|lung(3)	5						GAAGTGAACCGCAAGCTGGGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4396		0,0,2198	94	90	91		536	1.1	1	16		91	2,8598	2.2+/-6.3	0,2,4298	no	missense	GFER	NM_005262.2	29	0,2,6496	AA,AG,GG	NA	0.0233,0.0,0.0154	benign	179/206	2035947	2,12994	2198	4300	6498	SO:0001583	missense			BC002429	CCDS32368.1	16p13.3-p13.12	2011-06-22	2008-08-01		ENSG00000127554	ENSG00000127554	2671	2671			4236	protein-coding gene	gene with protein product	ERV1 homolog (S. cerevisiae)	600924	growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration)		NA	8575761	Standard	NM_005262	NM_005262	NA	Approved	HSS, ERV1, ALR, HERV1, HPO1, HPO2	uc002cob.3	P55789		ENST00000248114.6:c.536G>A	16.37:g.2035947G>A	ENSP00000248114:p.Arg179His	NA	Q8TAH6|Q9H290|Q9UK40	37	CCDS32368.1	.	.	.	.	.	.	.	.	.	.	g	14.92	2.680098	0.47886	0.0	2.33E-4	ENSG00000127554	ENST00000248114	T	0.55234	0.53	4.43	1.06	0.20224	Erv1/Alr (3);ERV/ALR sulphydryl oxidase (1);	0.442657	0.21663	N	0.070988	T	0.54775	0.1879	M	0.89601	3.045	0.43304	D	0.995307	B;B	0.17667	0.023;0.01	B;B	0.13407	0.009;0.009	T	0.56038	-0.8045	10	0.66056	D	0.02	-13.2452	6.6271	0.22837	0.1669:0.0:0.6913:0.1418	.	105;179	Q9UQK8;P55789	.;ALR_HUMAN	H	179	ENSP00000248114:R179H	ENSP00000248114:R179H	R	+	2	0	GFER	1975948	0.135000	0.22499	0.986000	0.45419	0.823000	0.46562	0.436000	0.21526	0.420000	0.25954	0.511000	0.50034	CGC	GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434243.1		+	ENST00000248114.6	Missense_Mutation	SNP	16 : 2035947 - 2035947 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	422	5
GNAS	2778	broad.mit.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	rs121913495		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr20:57484421G>A	ENST00000371100.4	+	8	3083	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H	GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000313949.7_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	201					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423		NA	Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	yes	E	88	Substitution - Missense(88)	pancreas(28)|large_intestine(19)|thyroid(12)|pituitary(12)|liver(6)|biliary_tract(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)											80	78	79			NA	NA	20		NA											NA				57484421		2203	4300	6503	SO:0001583	missense			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460	2778	2778			4392	protein-coding gene	gene with protein product	secretogranin VI	139320	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	GNAS1	NA		Standard	NM_000516	NM_000516	NA	Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.2531G>A	20.37:g.57484421G>A	ENSP00000360141:p.Arg844His	NA	E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	37	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430570	0.96150	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.96;-5.93	5.53	5.53	0.82687	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.983;1.0	D	0.96812	0.9597	10	0.87932	D	0	.	19.4606	0.94915	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	844;830;187;201;202;186;187	ENSP00000360141:R844H;ENSP00000360143:R830H;ENSP00000360136:R187H;ENSP00000360126:R201H;ENSP00000346328:R202H;ENSP00000265620:R186H;ENSP00000304472:R187H	ENSP00000265620:R186H	R	+	2	0	GNAS	56917816	1.000000	0.71417	0.963000	0.40424	0.936000	0.57629	9.291000	0.96070	2.596000	0.87737	0.563000	0.77884	CGT	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080417.3		+	ENST00000371100.4	Missense_Mutation	SNP	20 : 57484421 - 57484421 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	398	18
GPR65	8477	broad.mit.edu	37	14	88477517	88477517	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr14:88477517C>T	ENST00000267549.3	+	2	884	c.326C>T	c.(325-327)gCc>gTc	p.A109V	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	109					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	p.A109V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ACCTGCATTGCCGTTGATCGG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	central_nervous_system(1)											211	201	204			NA	NA	14		NA											NA				88477517		2203	4300	6503	SO:0001583	missense			U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030	NA	8477		GPCR / Class A : Orphans	4517	protein-coding gene	gene with protein product		604620			NA	9655242	Standard		NM_003608	NA	Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.326C>T	14.37:g.88477517C>T	ENSP00000267549:p.Ala109Val	NA	O75819	37	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300635	0.60195	.	.	ENSG00000140030	ENST00000267549	T	0.77620	-1.11	5.82	5.82	0.92795	GPCR, rhodopsin-like superfamily (1);	0.229512	0.30584	N	0.009304	D	0.85961	0.5819	M	0.76170	2.325	0.53688	D	0.999978	D	0.54601	0.967	P	0.54759	0.76	D	0.86921	0.2067	10	0.87932	D	0	.	20.0966	0.97849	0.0:1.0:0.0:0.0	.	109	Q8IYL9	PSYR_HUMAN	V	109	ENSP00000267549:A109V	ENSP00000267549:A109V	A	+	2	0	GPR65	87547270	0.039000	0.19947	0.086000	0.20670	0.281000	0.26958	3.193000	0.50997	2.751000	0.94390	0.650000	0.86243	GCC	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071564.4		+	ENST00000267549.3	Missense_Mutation	SNP	14 : 88477517 - 88477517 T PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	1045	8
GPRASP2	114928	broad.mit.edu	37	X	101969855	101969855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chrX:101969855G>T	ENST00000535209.1	+	4	889	c.58G>T	c.(58-60)Gaa>Taa	p.E20*	GPRASP2_ENST00000332262.5_Nonsense_Mutation_p.E20*|GPRASP2_ENST00000543253.1_Nonsense_Mutation_p.E20*					G protein-coupled receptor associated sorting protein 2	NA										breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAAGGCTGGGGAAGAGGTTAT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	104	105			NA	NA	X		NA											NA				101969855		2203	4300	6503	SO:0001587	stop_gained			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301	114928	114928		Armadillo repeat containing	25169	protein-coding gene	gene with protein product					NA	15086532, 16221301	Standard	NM_138437	NM_138437	NA	Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.58G>T	X.37:g.101969855G>T	ENSP00000437394:p.Glu20*	NA		37	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	41	8.822422	0.98966	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	.	.	.	4.43	3.53	0.40419	.	0.173091	0.27946	N	0.017206	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	9.818	0.40865	0.0:0.2057:0.7943:0.0	.	.	.	.	X	20	.	ENSP00000339057:E20X	E	+	1	0	GPRASP2	101856511	0.961000	0.32948	0.994000	0.49952	0.615000	0.37417	1.145000	0.31577	0.921000	0.36994	0.468000	0.43344	GAA	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057626.2		+	ENST00000535209.1	Nonsense_Mutation	SNP	X : 101969855 - 101969855 T PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	273	7
HYDIN	54768	broad.mit.edu	37	16	71054178	71054178	+	Missense_Mutation	SNP	T	T	C	rs117718337		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr16:71054178T>C	ENST00000393567.2	-	22	3379	c.3229A>G	c.(3229-3231)Ata>Gta	p.I1077V	HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1077			I -> V (in dbSNP:rs6416709).					p.I1077V(3)|p.I1029V(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTTCTTTATGGCCAAGGGC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				6	Substitution - Missense(6)	lung(2)|prostate(2)|endometrium(2)											129	123	125			NA	NA	16		NA											NA				71054178		1855	4094	5949	SO:0001583	missense			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423	54768	54768		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	19368	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 31	610812	hydrocephalus inducing, hydrocephalus inducing homolog (mouse)		NA	12719380, 23022101	Standard		NM_001198542	NA	Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3229A>G	16.37:g.71054178T>C	ENSP00000377197:p.Ile1077Val	NA	A6NC70|A6NLZ0|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	t	6.789	0.514533	0.12944	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089	T;T	0.06371	3.31;3.31	4.61	0.358	0.16084	.	0.892413	0.09073	U	0.852581	T	0.06096	0.0158	L	0.58101	1.795	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.33059	-0.9883	10	0.18710	T	0.47	.	1.4303	0.02332	0.2901:0.0873:0.1652:0.4573	rs6416709;rs60865895	1077	F8WD23	.	V	1077;1077;1029	ENSP00000377197:I1077V;ENSP00000398544:I1029V	ENSP00000313052:I1077V	I	-	1	0	HYDIN	69611679	0.055000	0.20627	0.982000	0.44146	0.109000	0.19521	0.089000	0.15002	0.228000	0.21019	-0.676000	0.03789	ATA	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398624.3		-	ENST00000393567.2	Missense_Mutation	SNP	16 : 71054178 - 71054178 C PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	238	8
KCNH4	23415	broad.mit.edu	37	17	40328179	40328179	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:40328179G>A	ENST00000264661.3	-	5	1054	c.722C>T	c.(721-723)gCg>gTg	p.A241V	KCNH4_ENST00000607371.1_Missense_Mutation_p.A241V	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	241					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GACGGTGACCGCAACGTAGAA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(117;707 1703 2300 21308 31858)							NA				0													141	114	123			NA	NA	17		NA											NA				40328179		2203	4300	6503	SO:0001583	missense			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558	23415	23415		Potassium channels, Voltage-gated ion channels / Potassium channels	6253	protein-coding gene	gene with protein product		604528			NA	10455180, 16382104	Standard	NM_012285	NM_012285	NA	Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.722C>T	17.37:g.40328179G>A	ENSP00000264661:p.Ala241Val	NA		37	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	36	5.891215	0.97074	.	.	ENSG00000089558	ENST00000264661	D	0.97256	-4.31	5.45	5.45	0.79879	.	0.000000	0.40554	N	0.001070	D	0.98454	0.9485	M	0.88450	2.955	0.80722	D	1	D	0.67145	0.996	P	0.58970	0.849	D	0.99170	1.0864	10	0.87932	D	0	.	19.4711	0.94963	0.0:0.0:1.0:0.0	.	241	Q9UQ05	KCNH4_HUMAN	V	241	ENSP00000264661:A241V	ENSP00000264661:A241V	A	-	2	0	KCNH4	37581705	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.611000	0.98342	2.840000	0.97914	0.655000	0.94253	GCG	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449791.2		-	ENST00000264661.3	Missense_Mutation	SNP	17 : 40328179 - 40328179 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	489	5
KRAS	3845	broad.mit.edu	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	rs121913240		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr12:25380276T>C	ENST00000311936.3	-	3	373	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; 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.Q61L(73)|p.Q61R(56)|p.Q61P(12)	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)			GTACTCCTCTTGACCTGCTGT	0.418	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_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	141	Substitution - Missense(141)	large_intestine(63)|lung(27)|thyroid(14)|haematopoietic_and_lymphoid_tissue(9)|pancreas(6)|skin(5)|stomach(3)|cervix(3)|upper_aerodigestive_tract(2)|soft_tissue(1)|central_nervous_system(1)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|gastrointestinal_tract_(site_indeterminate)(1)|breast(1)|prostate(1)|kidney(1)											109	97	101			NA	NA	12		NA											NA				25380276		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.182A>G	12.37:g.25380276T>C	ENSP00000308495:p.Gln61Arg	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022613	0.75275	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.83673	-1.75;-1.75	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.88358	0.6415	M	0.92367	3.3	0.80722	D	1	B;B	0.26744	0.158;0.026	B;B	0.32805	0.135;0.153	D	0.87885	0.2680	10	0.66056	D	0.02	.	15.5753	0.76373	0.0:0.0:0.0:1.0	.	61;61	P01116-2;P01116	.;RASK_HUMAN	R	61	ENSP00000308495:Q61R;ENSP00000256078:Q61R	ENSP00000256078:Q61R	Q	-	2	0	KRAS	25271543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.983000	0.88140	2.326000	0.78906	0.533000	0.62120	CAA	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25380276 - 25380276 C PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	0	0
LAMP1	3916	broad.mit.edu	37	13	113964111	113964111	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr13:113964111G>A	ENST00000332556.4	+	3	531	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	LAMP1_ENST00000397181.3_Missense_Mutation_p.V113I	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	113	First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction		p.V113I(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			ACGTTACAGCGTCCAGCTCAT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)						G	ILE/VAL	0,3914		0,0,1957	169	164	166		337	5.3	0.3	13		166	1,8291		0,1,4145	no	missense	LAMP1	NM_005561.3	29	0,1,6102	AA,AG,GG	NA	0.0121,0.0,0.0082	probably-damaging	113/418	113964111	1,12205	1957	4146	6103	SO:0001583	missense			J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896	3916	3916		CD molecules	6499	protein-coding gene	gene with protein product		153330			NA		Standard		NM_005561	NA	Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.337G>A	13.37:g.113964111G>A	ENSP00000333298:p.Val113Ile	NA	Q8WU33|Q96I40|Q9BRD2|Q9NP13	37	CCDS41909.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831290	0.50845	0.0	1.21E-4	ENSG00000185896	ENST00000332556;ENST00000397181	T;T	0.35973	1.28;1.46	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	L	0.52573	1.65	0.31429	N	0.67331	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.54146	-0.8337	10	0.29301	T	0.29	-52.2082	14.4649	0.67477	0.0:0.0:1.0:0.0	.	113;113	B4DWL3;P11279	.;LAMP1_HUMAN	I	113	ENSP00000333298:V113I;ENSP00000415354:V113I	ENSP00000333298:V113I	V	+	1	0	LAMP1	113012112	0.991000	0.36638	0.335000	0.25508	0.087000	0.18053	4.848000	0.62874	2.473000	0.83533	0.557000	0.71058	GTC	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045876.2		+	ENST00000332556.4	Missense_Mutation	SNP	13 : 113964111 - 113964111 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	757	10
MAATS1	89876	broad.mit.edu	37	3	119428733	119428733	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr3:119428733C>T	ENST00000273390.5	+	5	568	c.491C>T	c.(490-492)gCc>gTc	p.A164V	MAATS1_ENST00000463700.1_Missense_Mutation_p.A164V	NM_033364.3	NP_203528			MYCBP-associated, testis expressed 1	NA											NA						GTTGTTTATGCCGTATCCAAG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	201	203			NA	NA	3		NA											NA				119428733		2202	4300	6502	SO:0001583	missense			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833	89876	89876			24010	protein-coding gene	gene with protein product	AMY-1-associating protein expressed in testis 1, MYCBP-binding protein, spermatogenesis associated 26	609910	chromosome 3 open reading frame 15, MYCBP/AMY-1-associated, testis expressed 1	C3orf15	NA	12223483, 14551891, 17967944	Standard	NM_033364	NM_033364	NA	Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.491C>T	3.37:g.119428733C>T	ENSP00000273390:p.Ala164Val	NA		37	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	C	8.014	0.758185	0.15846	.	.	ENSG00000183833	ENST00000273390;ENST00000463700	T;T	0.50813	1.72;0.73	5.34	4.46	0.54185	.	0.368951	0.29417	N	0.012220	T	0.46092	0.1375	L	0.47716	1.5	0.34195	D	0.672468	B;P;B;P;B	0.39480	0.291;0.604;0.113;0.675;0.383	B;B;B;B;B	0.42771	0.316;0.397;0.062;0.298;0.116	T	0.58340	-0.7653	10	0.30078	T	0.28	-10.2043	14.624	0.68608	0.1473:0.8527:0.0:0.0	.	164;102;164;164;164	Q7Z4T9;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7;Q7Z4T9-2	AAT1_HUMAN;.;.;.;.	V	164	ENSP00000273390:A164V;ENSP00000419489:A164V	ENSP00000273390:A164V	A	+	2	0	C3orf15	120911423	0.211000	0.23529	0.517000	0.27799	0.473000	0.32948	1.353000	0.34045	1.372000	0.46190	0.655000	0.94253	GCC	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355222.1		+	ENST00000273390.5	Missense_Mutation	SNP	3 : 119428733 - 119428733 T PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	558	5
NMT1	4836	broad.mit.edu	37	17	43181080	43181080	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:43181080G>A	ENST00000592782.1	+	11	1299	c.1168G>A	c.(1168-1170)Gca>Aca	p.A390T	NMT1_ENST00000258960.2_Missense_Mutation_p.A390T			P30419	NMT1_HUMAN	N-myristoyltransferase 1	390					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CCTTCAGAACGCAAACGGAGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													210	200	203			NA	NA	17		NA											NA				43181080		2203	4300	6503	SO:0001583	missense				CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448	4836	4836			7857	protein-coding gene	gene with protein product	alternative, short form NMT-S, myristoyl-CoA:protein N-myristoyltransferase, long form, NMT-L	160993			NA	1570339	Standard	NM_021079	NM_021079	NA	Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.1168G>A	17.37:g.43181080G>A	ENSP00000468424:p.Ala390Thr	NA	A8K7C1|Q9UE09	37	CCDS11494.1	.	.	.	.	.	.	.	.	.	.	G	5.756	0.323942	0.10900	.	.	ENSG00000136448	ENST00000258960	T	0.43294	0.95	5.39	3.4	0.38934	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.336590	0.30732	N	0.008994	T	0.15955	0.0384	N	0.04043	-0.29	0.19300	N	0.99998	B;B	0.32350	0.366;0.002	B;B	0.24155	0.051;0.002	T	0.16158	-1.0412	10	0.20046	T	0.44	-6.1877	6.9389	0.24483	0.0644:0.1111:0.5929:0.2316	.	57;390	A4FU65;P30419	.;NMT1_HUMAN	T	390	ENSP00000258960:A390T	ENSP00000258960:A390T	A	+	1	0	NMT1	40536606	0.015000	0.18098	0.103000	0.21229	0.012000	0.07955	0.143000	0.16115	0.401000	0.25424	-0.808000	0.03180	GCA	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449239.1		+	ENST00000592782.1	Missense_Mutation	SNP	17 : 43181080 - 43181080 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	824	7
OTX1	5013	broad.mit.edu	37	2	63280157	63280157	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr2:63280157G>A	ENST00000366671.3	+	3	308	c.32G>A	c.(31-33)gGc>gAc	p.G11D	OTX1_ENST00000282549.2_Missense_Mutation_p.G11D	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	11						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CCCCCATACGGCATGAACGGG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	81	77			NA	NA	2		NA											NA				63280157		2203	4299	6502	SO:0001583	missense				CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507	5013	5013		Homeoboxes / PRD class	8521	protein-coding gene	gene with protein product		600036	orthodenticle (Drosophila) homolog 1, orthodenticle homolog 1 (Drosophila)		NA	7959790	Standard		NM_001199770	NA	Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000366671.3:c.32G>A	2.37:g.63280157G>A	ENSP00000355631:p.Gly11Asp	NA	Q53TG6	37	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977675	0.74360	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.91011	-2.77;-2.77	5.5	5.5	0.81552	.	0.059634	0.64402	D	0.000003	D	0.93344	0.7878	L	0.56769	1.78	0.58432	D	0.999995	D	0.57257	0.979	P	0.58130	0.833	D	0.93676	0.6994	10	0.66056	D	0.02	.	18.1537	0.89684	0.0:0.0:1.0:0.0	.	11	P32242	OTX1_HUMAN	D	11	ENSP00000355631:G11D;ENSP00000282549:G11D	ENSP00000282549:G11D	G	+	2	0	OTX1	63133661	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.988000	0.63863	2.596000	0.87737	0.561000	0.74099	GGC	OTX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326731.1		+	ENST00000366671.3	Missense_Mutation	SNP	2 : 63280157 - 63280157 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	429	5
PCDHA2	56146	broad.mit.edu	37	5	140181599	140181599	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr5:140181599G>C	ENST00000520672.2	+	2	2494				PCDHA3_ENST00000532566.2_Missense_Mutation_p.V273L|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Missense_Mutation_p.V273L	NM_031496.1	NP_113684.1			protocadherin alpha 2	NA										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGAAGGAGTAAATAAGGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	79	80			NA	NA	5		NA											NA				140181599		2203	4300	6503	SO:0001627	intron_variant			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969	56146	56146		Cadherins / Protocadherins : Clustered	8668	other	complex locus constituent	KIAA0345-like 12	606308			NA	10380929	Standard	NM_018905	NM_018905	NA	Approved			Q9Y5H9		ENST00000520672.2:c.2389-3046G>C	5.37:g.140181599G>C		NA		37		.	.	.	.	.	.	.	.	.	.	g	0.019	-1.464418	0.01053	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.49432	0.78;0.78	4.79	-3.24	0.05094	Cadherin (4);Cadherin-like (1);	0.722810	0.11072	U	0.602758	T	0.20981	0.0505	N	0.11106	0.095	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.17979	0.004;0.02	T	0.24297	-1.0164	10	0.17369	T	0.5	.	5.119	0.14851	0.5648:0.0:0.1703:0.2649	.	273;273	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	L	273	ENSP00000429808:V273L;ENSP00000434086:V273L	ENSP00000429808:V273L	V	+	1	0	PCDHA3	140161783	0.000000	0.05858	0.924000	0.36721	0.764000	0.43329	-2.774000	0.00777	-0.298000	0.08921	0.467000	0.42956	GTA	PCDHA2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000374265.2		+	ENST00000520672.2	Intron	SNP	5 : 140181599 - 140181599 C PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	370	7
PCNX	22990	broad.mit.edu	37	14	71429026	71429026	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr14:71429026C>T	ENST00000304743.2	+	3	892	c.446C>T	c.(445-447)gCc>gTc	p.A149V	PCNX_ENST00000439984.3_Missense_Mutation_p.A149V|PCNX_ENST00000238570.5_Missense_Mutation_p.A149V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	149						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AATTCTTATGCCGGTCTAGAT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	159	160			NA	NA	14		NA											NA				71429026		2203	4300	6503	SO:0001583	missense			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03					22990	22990			19740	protein-coding gene	gene with protein product			pecanex-like 1 (Drosophila)	PCNXL1	NA	9244429, 15777640	Standard	NM_014982	NM_014982	NA	Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.446C>T	14.37:g.71429026C>T	ENSP00000304192:p.Ala149Val	NA	O94897|Q96AI7|Q9Y2J9	37	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320630	0.41096	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.42513	0.97;0.97;0.97	5.29	5.29	0.74685	.	0.213882	0.41001	D	0.000977	T	0.28333	0.0700	N	0.08118	0	0.43355	D	0.99542	P;P;B	0.40970	0.734;0.734;0.208	B;B;B	0.40165	0.321;0.321;0.047	T	0.08046	-1.0741	10	0.25751	T	0.34	.	19.2883	0.94087	0.0:1.0:0.0:0.0	.	149;149;149	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	V	149	ENSP00000304192:A149V;ENSP00000238570:A149V;ENSP00000396617:A149V	ENSP00000238570:A149V	A	+	2	0	PCNX	70498779	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	3.448000	0.52943	2.646000	0.89796	0.591000	0.81541	GCC	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412479.1		+	ENST00000304743.2	Missense_Mutation	SNP	14 : 71429026 - 71429026 T PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	621	6
PIK3C2A	5286	broad.mit.edu	37	11	17172170	17172170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr11:17172170C>T	ENST00000265970.7	-	3	1201	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R21H	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	401					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.R401H(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TGGGTTTGTGCGGTGATTGGT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											170	152	158			NA	NA	11		NA											NA				17172170		2200	4293	6493	SO:0001583	missense			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	5286	5286	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	phosphoinositide-3-kinase, class 2, alpha polypeptide		NA	9337861	Standard	NM_002645	NM_002645	NA	Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1202G>A	11.37:g.17172170C>T	ENSP00000265970:p.Arg401His	NA	B0LPH2|Q14CQ9	37	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	1.240	-0.621565	0.03636	.	.	ENSG00000011405	ENST00000265970;ENST00000540361;ENST00000544896	T;T	0.42513	0.97;0.97	5.94	-2.21	0.06973	.	0.920435	0.09561	N	0.785613	T	0.15478	0.0373	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.25293	-1.0136	10	0.20519	T	0.43	8.3831	4.7189	0.12909	0.2829:0.1989:0.0:0.5182	.	401;401	F5H5W9;O00443	.;P3C2A_HUMAN	H	401;21;401	ENSP00000265970:R401H;ENSP00000438687:R21H	ENSP00000265970:R401H	R	-	2	0	PIK3C2A	17128746	0.000000	0.05858	0.059000	0.19551	0.148000	0.21650	0.401000	0.20948	-0.065000	0.13021	-1.119000	0.02030	CGC	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387553.1		-	ENST00000265970.7	Missense_Mutation	SNP	11 : 17172170 - 17172170 T PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	382	7
PPP2R1B	5519	broad.mit.edu	37	11	111614250	111614250	+	Silent	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr11:111614250G>A	ENST00000341980.6	-	11	1275	c.1269C>T	c.(1267-1269)taC>taT	p.Y423Y	PPP2R1B_ENST00000427203.2_Silent_p.Y307Y|PPP2R1B_ENST00000527614.1_Silent_p.Y468Y|PPP2R1B_ENST00000393055.2_Silent_p.Y341Y|PPP2R1B_ENST00000426998.2_Silent_p.Y404Y|PPP2R1B_ENST00000311129.5_Silent_p.Y468Y			P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	468							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CTCGGATGGCGTATACTGCAG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	137	141			NA	NA	11		NA											NA				111614250		2201	4297	6498	SO:0001819	synonymous_variant			AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	5519	5519	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits	9303	protein-coding gene	gene with protein product	PP2A-A-beta, protein phosphatase 2A, regulatory subunit A, beta isoform	603113	protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform, protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform		NA	2159327, 9795170	Standard	NM_002716	NM_181699	NA	Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000341980.6:c.1269C>T	11.37:g.111614250G>A		NA	B0YJ69|O75620|Q8NHV8	37	CCDS53708.1																																																																																			PPP2R1B-005	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391300.1		-	ENST00000341980.6	Silent	SNP	11 : 111614250 - 111614250 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	821	7
RBM28	55131	broad.mit.edu	37	7	127964701	127964701	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr7:127964701G>A	ENST00000223073.2	-	12	1364	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	RBM28_ENST00000415472.2_Missense_Mutation_p.A276V	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	NA	RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ACGGGTCACCGCCAAGTCAAC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	166	164			NA	NA	7		NA											NA				127964701		2203	4300	6503	SO:0001583	missense			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344	55131	55131		RNA binding motif (RRM) containing	21863	protein-coding gene	gene with protein product		612074			NA		Standard	NM_018077	NM_018077	NA	Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1250C>T	7.37:g.127964701G>A	ENSP00000223073:p.Ala417Val	NA	A4D100|Q53H65|Q96CV3	37	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490769	0.96339	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.80566	-1.39;-1.39	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.104763	0.64402	D	0.000004	D	0.90120	0.6913	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.986;0.999	D	0.90475	0.4456	10	0.87932	D	0	-12.3433	16.3795	0.83443	0.0:0.0:1.0:0.0	.	276;417;276	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	V	417;276	ENSP00000223073:A417V;ENSP00000390517:A276V	ENSP00000223073:A417V	A	-	2	0	RBM28	127751937	1.000000	0.71417	0.990000	0.47175	0.965000	0.64279	7.764000	0.85297	2.941000	0.99782	0.655000	0.94253	GCG	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349442.2		-	ENST00000223073.2	Missense_Mutation	SNP	7 : 127964701 - 127964701 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	1200	7
RHOH	399	broad.mit.edu	37	4	40245187	40245187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr4:40245187G>A	ENST00000381799.5	+	3	905	c.181G>A	c.(181-183)Ggc>Agc	p.G61S	RHOH_ENST00000505618.1_Missense_Mutation_p.G61S	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	NA					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						GGACACAGCCGGCAATGACGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	86	89			NA	NA	4		NA											NA				40245187		2203	4300	6503	SO:0001583	missense			Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421	399	399			686	protein-coding gene	gene with protein product		602037	ras homolog gene family, member H	ARHH	NA	7784061	Standard	NM_004310	NM_001278359	NA	Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.181G>A	4.37:g.40245187G>A	ENSP00000371219:p.Gly61Ser	NA		37	CCDS3458.1	.	.	.	.	.	.	.	.	.	.	g	28.3	4.906906	0.92107	.	.	ENSG00000168421	ENST00000505618;ENST00000507851;ENST00000503941;ENST00000381799	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.65	5.65	0.86999	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.98099	0.9373	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98994	1.0809	10	0.87932	D	0	.	19.7124	0.96100	0.0:0.0:1.0:0.0	.	61	Q15669	RHOH_HUMAN	S	61	ENSP00000425010:G61S;ENSP00000423384:G61S;ENSP00000426439:G61S;ENSP00000371219:G61S	ENSP00000371219:G61S	G	+	1	0	RHOH	39921582	1.000000	0.71417	0.943000	0.38184	0.617000	0.37484	9.476000	0.97823	2.655000	0.90218	0.591000	0.81541	GGC	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216820.3		+	ENST00000381799.5	Missense_Mutation	SNP	4 : 40245187 - 40245187 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	251	5
RILPL2	196383	broad.mit.edu	37	12	123900448	123900448	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr12:123900448T>C	ENST00000280571.8	-	4	922	c.626A>G	c.(625-627)aAa>aGa	p.K209R		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	209						cytosol|plasma membrane	identical protein binding			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		CTAGGTCTGTTTCCCCGATCG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													292	280	284			NA	NA	12		NA											NA				123900448		2203	4300	6503	SO:0001583	missense			AB085763	CCDS9248.1	12q24.31	2007-11-27				ENSG00000150977	196383	196383			28787	protein-coding gene	gene with protein product		614093			NA	14668488	Standard	NM_145058	NM_145058	NA	Approved	MGC7036, FLJ30380, FLJ32372	uc001uey.1	Q969X0		ENST00000280571.8:c.626A>G	12.37:g.123900448T>C	ENSP00000280571:p.Lys209Arg	NA		37	CCDS9248.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.935916	0.52972	.	.	ENSG00000150977	ENST00000280571	T	0.49432	0.78	3.63	3.63	0.41609	.	0.210369	0.37623	N	0.002018	T	0.40670	0.1126	L	0.27053	0.805	0.29966	N	0.818982	P	0.51057	0.941	P	0.49477	0.612	T	0.42085	-0.9472	10	0.87932	D	0	.	8.9555	0.35816	0.0:0.0:0.0:1.0	.	209	Q969X0	RIPL2_HUMAN	R	209	ENSP00000280571:K209R	ENSP00000280571:K209R	K	-	2	0	RILPL2	122466401	1.000000	0.71417	0.998000	0.56505	0.410000	0.31052	3.321000	0.51999	1.878000	0.54408	0.379000	0.24179	AAA	RILPL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			-	ENST00000280571.8	Missense_Mutation	SNP	12 : 123900448 - 123900448 C PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	1319	7
RNF213	57674	broad.mit.edu	37	17	78343322	78343322	+	Missense_Mutation	SNP	C	C	T	rs142466553		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:78343322C>T	ENST00000508628.2	+	46	12468	c.12323C>T	c.(12322-12324)gCc>gTc	p.A4108V	RNF213_ENST00000582970.1_Missense_Mutation_p.A4059V|RNF213_ENST00000336301.6_Missense_Mutation_p.A2132V|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA			Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAAAAGCATGCCCGCTTCCGG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	115	115			NA	NA	17		NA											NA				78343322		2203	4300	6503	SO:0001583	missense			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821	57674	57674		RING-type (C3HC4) zinc fingers	14539	protein-coding gene	gene with protein product		613768	chromosome 17 open reading frame 27, KIAA1618, moyamoya disease 2, Moyamoya disease 2	C17orf27, KIAA1618, MYMY2	NA	10997877, 21048783, 21799892	Standard	NM_020914	NM_020954	NA	Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000508628.2:c.12323C>T	17.37:g.78343322C>T	ENSP00000425956:p.Ala4108Val	NA	Q69YK7|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406	37		.	.	.	.	.	.	.	.	.	.	C	16.56	3.156124	0.57259	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.25085	1.82	5.22	4.23	0.50019	Zinc finger, RING/FYVE/PHD-type (1);	0.223032	0.45606	D	0.000343	T	0.24736	0.0600	L	0.56280	1.765	0.30288	N	0.790668	P;B	0.52316	0.952;0.174	B;B	0.41440	0.357;0.114	T	0.28870	-1.0030	10	0.59425	D	0.04	.	11.096	0.48145	0.0:0.8528:0.0:0.1472	.	4108;2132	C9JCP4;Q63HN8	.;RN213_HUMAN	V	4059;4108;2132	ENSP00000338218:A2132V	ENSP00000338218:A2132V	A	+	2	0	RNF213	75957917	1.000000	0.71417	0.971000	0.41717	0.894000	0.52154	4.258000	0.58822	2.603000	0.88011	0.650000	0.86243	GCC	RNF213-001	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364861.3		+	ENST00000508628.2	Missense_Mutation	SNP	17 : 78343322 - 78343322 T PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	608	5
SEC24B	10427	broad.mit.edu	37	4	110447472	110447472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr4:110447472C>T	ENST00000504968.2	+	18	3070	c.2972C>T	c.(2971-2973)gCg>gTg	p.A991V	SEC24B_ENST00000265175.5_Missense_Mutation_p.A961V|SEC24B_ENST00000399100.2_Missense_Mutation_p.A926V			O95487	SC24B_HUMAN	SEC24 family member B	961					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|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GCTGGATTTGCGGTGCAGTTG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	158	163			NA	NA	4		NA											NA				110447472		1862	4089	5951	SO:0001583	missense			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802	10427	10427			10704	protein-coding gene	gene with protein product		607184	SEC24 (S. cerevisiae) related gene family, member B, SEC24 family, member B (S. cerevisiae)		NA	10075675, 10329445	Standard		XM_005262688	NA	Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000504968.2:c.2972C>T	4.37:g.110447472C>T	ENSP00000428564:p.Ala991Val	NA	B7ZKN4|Q0VG08	37		.	.	.	.	.	.	.	.	.	.	C	35	5.421208	0.96111	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.77098	-1.07;-1.07;-1.07	5.3	5.3	0.74995	Sec23/Sec24 beta-sandwich (1);	0.049795	0.85682	D	0.000000	D	0.84397	0.5463	L	0.46567	1.45	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	0.66716	0.946;0.942;0.946;0.911;0.946	T	0.82989	-0.0183	10	0.39692	T	0.17	-20.8388	19.3486	0.94374	0.0:1.0:0.0:0.0	.	875;560;991;926;961	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	V	991;926;961	ENSP00000428564:A991V;ENSP00000382051:A926V;ENSP00000265175:A961V	ENSP00000265175:A961V	A	+	2	0	SEC24B	110666921	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.818000	0.86416	2.644000	0.89710	0.655000	0.94253	GCG	SEC24B-003	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364695.2		+	ENST00000504968.2	Missense_Mutation	SNP	4 : 110447472 - 110447472 T PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	683	5
SEC31B	25956	broad.mit.edu	37	10	102257434	102257434	+	Silent	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr10:102257434G>A	ENST00000370345.3	-	16	2077	c.1980C>T	c.(1978-1980)ccC>ccT	p.P660P		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	660					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		p.P660P(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CACAGAGCTCGGGAAATTTCT	0.512		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)											143	116	125			NA	NA	10		NA											NA				102257434		2203	4300	6503	SO:0001819	synonymous_variant			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826	25956	25956		WD repeat domain containing	23197	protein-coding gene	gene with protein product		610258	SEC31-like 2 (S. cerevisiae)	SEC31L2	NA	16495487	Standard	NM_015490	NM_015490	NA	Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1980C>T	10.37:g.102257434G>A		NA	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	37	CCDS7495.1																																																																																			SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051198.1		-	ENST00000370345.3	Silent	SNP	10 : 102257434 - 102257434 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	283	5
SLC17A8	246213	broad.mit.edu	37	12	100795569	100795569	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr12:100795569G>A	ENST00000323346.5	+	6	1004	c.691G>A	c.(691-693)Gca>Aca	p.A231T	SLC17A8_ENST00000392989.3_Missense_Mutation_p.A231T	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	231					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CTATGCAGGGGCAGTGGTTGC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													265	252	256			NA	NA	12		NA											NA				100795569		2203	4300	6503	SO:0001583	missense			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520	246213	246213		Solute carriers	20151	protein-coding gene	gene with protein product	vesicular glutamate transporter 3	607557	deafness, autosomal dominant 25, solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8	DFNA25	NA	12151341	Standard	NM_139319	NM_139319	NA	Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.691G>A	12.37:g.100795569G>A	ENSP00000316909:p.Ala231Thr	NA	B3KXZ6|B7ZKV4|Q17RQ8	37	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219505	0.58560	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.58060	0.36;0.36	5.45	5.45	0.79879	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.56366	0.1980	N	0.20986	0.625	0.80722	D	1	D;D	0.67145	0.996;0.984	D;D	0.72625	0.978;0.939	T	0.44298	-0.9337	10	0.02654	T	1	.	19.661	0.95871	0.0:0.0:1.0:0.0	.	231;231	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	T	231	ENSP00000316909:A231T;ENSP00000376715:A231T	ENSP00000316909:A231T	A	+	1	0	SLC17A8	99319700	1.000000	0.71417	0.978000	0.43139	0.427000	0.31564	9.796000	0.99103	2.714000	0.92807	0.563000	0.77884	GCA	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408673.2		+	ENST00000323346.5	Missense_Mutation	SNP	12 : 100795569 - 100795569 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	591	7
SYCP2	10388	broad.mit.edu	37	20	58443596	58443596	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr20:58443596C>G	ENST00000357552.3	-	38	4085	c.3860G>C	c.(3859-3861)aGa>aCa	p.R1287T	SYCP2_ENST00000371001.2_Missense_Mutation_p.R1287T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1287					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TATATATATTCTTTTGCGACT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	86	86			NA	NA	20		NA											NA				58443596		2203	4299	6502	SO:0001583	missense			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074	10388	10388			11490	protein-coding gene	gene with protein product		604105			NA	10341103, 9592139	Standard	NM_014258	NM_014258	NA	Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3860G>C	20.37:g.58443596C>G	ENSP00000350162:p.Arg1287Thr	NA	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605911	0.46527	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.43294	0.95;0.95	5.77	4.83	0.62350	.	0.000000	0.53938	D	0.000049	T	0.60261	0.2255	M	0.66939	2.045	0.30863	N	0.733263	D	0.76494	0.999	D	0.74023	0.982	T	0.65668	-0.6112	10	0.59425	D	0.04	-7.4813	11.8305	0.52293	0.0:0.9185:0.0:0.0815	.	1287	Q9BX26	SYCP2_HUMAN	T	1287	ENSP00000360040:R1287T;ENSP00000350162:R1287T	ENSP00000350162:R1287T	R	-	2	0	SYCP2	57876991	0.985000	0.35326	0.874000	0.34290	0.211000	0.24417	1.642000	0.37207	1.450000	0.47717	0.591000	0.81541	AGA	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079930.3		-	ENST00000357552.3	Missense_Mutation	SNP	20 : 58443596 - 58443596 G PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	440	5
TACC3	10460	broad.mit.edu	37	4	1725247	1725247	+	Silent	SNP	G	G	A	rs142473170		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr4:1725247G>A	ENST00000313288.4	+	2	205	c.99G>A	c.(97-99)tcG>tcA	p.S33S		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	33						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CCGGAAGATCGTCTGTTCTTC	0.448		NA											G	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	0.9768	LOWCOV,EXOME	NA	NA	4e-04	SNP	Ovarian(120;482 2294 11894 35824)							NA				0								G		3,4403	6.2+/-15.9	0,3,2200	71	68	69		99	-10.7	0	4	dbSNP_134	69	0,8596		0,0,4298	no	coding-synonymous	TACC3	NM_006342.1		0,3,6498	AA,AG,GG	NA	0.0,0.0681,0.0231		33/839	1725247	3,12999	2203	4298	6501	SO:0001819	synonymous_variant			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810	10460	10460			11524	protein-coding gene	gene with protein product		605303			NA	17675670	Standard		NM_006342	NA	Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.99G>A	4.37:g.1725247G>A		NA	Q3KQS5|Q9UMQ1	37	CCDS3352.1																																																																																			TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000203730.2		+	ENST00000313288.4	Silent	SNP	4 : 1725247 - 1725247 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	201	5
TMEM106C	79022	broad.mit.edu	37	12	48359115	48359115	+	Missense_Mutation	SNP	C	C	T	rs146483924		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr12:48359115C>T	ENST00000549288.1	+	2	253				TMEM106C_ENST00000449758.2_Missense_Mutation_p.R80C|TMEM106C_ENST00000552561.1_Missense_Mutation_p.R80C|TMEM106C_ENST00000256686.6_Missense_Mutation_p.R80C|TMEM106C_ENST00000429772.2_Missense_Mutation_p.R80C|TMEM106C_ENST00000552546.1_Intron|TMEM106C_ENST00000550552.1_Missense_Mutation_p.R80C			Q9BVX2	T106C_HUMAN	transmembrane protein 106C	NA						endoplasmic reticulum membrane|integral to membrane		p.R80C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TCAGAGATTGCGCCCTCAGCG	0.408		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)						C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	137	119	125		238,238,238,238	4.4	1	12	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	TMEM106C	NM_001143841.1,NM_001143842.1,NM_001143843.1,NM_024056.3	180,180,180,180	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	80/232,80/251,80/232,80/251	48359115	1,13005	2203	4300	6503	SO:0001627	intron_variant			BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291	79022	79022			28775	protein-coding gene	gene with protein product					NA		Standard	NM_024056	NM_024056	NA	Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000549288.1:c.187+909C>T	12.37:g.48359115C>T		NA	B2R998|B7Z5M4|Q3B761	37		.	.	.	.	.	.	.	.	.	.	C	28.5	4.928501	0.92389	0.0	1.16E-4	ENSG00000134291	ENST00000256686;ENST00000552561;ENST00000550552;ENST00000429772;ENST00000449758	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	4.37	4.37	0.52481	.	0.156867	0.48767	D	0.000163	T	0.51975	0.1706	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.63597	0.916;0.862	T	0.55976	-0.8055	10	0.87932	D	0	0.1116	16.7328	0.85439	0.0:1.0:0.0:0.0	.	80;80	Q9BVX2;Q9BVX2-2	T106C_HUMAN;.	C	80	ENSP00000256686:R80C;ENSP00000446657:R80C;ENSP00000449737:R80C;ENSP00000400471:R80C;ENSP00000402705:R80C	ENSP00000256686:R80C	R	+	1	0	TMEM106C	46645382	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.039000	0.64185	2.727000	0.93392	0.655000	0.94253	CGC	TMEM106C-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000406446.1		+	ENST00000549288.1	Intron	SNP	12 : 48359115 - 48359115 T PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	463	5
TMEM215	401498	broad.mit.edu	37	9	32784414	32784414	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr9:32784414G>A	ENST00000342743.5	+	2	598	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	78						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CTGTGGGTCCGCAAATTGCCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	76	79			NA	NA	9		NA											NA				32784414		2203	4300	6503	SO:0001583	missense				CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133	401498	401498			33816	protein-coding gene	gene with protein product					NA		Standard	NM_212558	NM_212558	NA	Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.233G>A	9.37:g.32784414G>A	ENSP00000345468:p.Arg78His	NA	Q6ZUU2	37	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	G	8.409	0.843700	0.16963	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.18	4.28	0.50868	.	0.113770	0.38326	N	0.001736	T	0.31040	0.0784	N	0.19112	0.55	0.30856	N	0.734062	B	0.25169	0.119	B	0.17433	0.018	T	0.31530	-0.9940	9	0.56958	D	0.05	-16.3167	9.7196	0.40295	0.0963:0.0:0.9037:0.0	.	78	Q68D42	TM215_HUMAN	H	78	.	ENSP00000345468:R78H	R	+	2	0	TMEM215	32774414	1.000000	0.71417	1.000000	0.80357	0.111000	0.19643	3.258000	0.51507	1.184000	0.42957	-0.258000	0.10820	CGC	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251701.1		+	ENST00000342743.5	Missense_Mutation	SNP	9 : 32784414 - 32784414 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	426	5
TMPRSS11D	9407	broad.mit.edu	37	4	68688126	68688126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr4:68688126G>A	ENST00000283916.6	-	10	1284	c.1186C>T	c.(1186-1188)Ccg>Tcg	p.P396S	TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.P279S|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	396	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGCTTATCCGGCAGGCCACAC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	127	133			NA	NA	4		NA											NA				68688126		2203	4300	6503	SO:0001583	missense			AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802	9407	9407		Serine peptidases / Transmembrane	24059	protein-coding gene	gene with protein product	airway trypsin like protease	605369			NA	9565616, 9070615	Standard	NM_004262	XM_005265710	NA	Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.1186C>T	4.37:g.68688126G>A	ENSP00000283916:p.Pro396Ser	NA	Q08AF6	37	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078916	0.36662	.	.	ENSG00000153802	ENST00000283916;ENST00000545541	D;D	0.88896	-2.44;-2.44	5.78	4.04	0.47022	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.119022	0.38217	N	0.001771	D	0.86049	0.5840	L	0.38733	1.17	0.09310	N	1	P	0.45078	0.85	P	0.44696	0.458	T	0.78797	-0.2063	10	0.59425	D	0.04	.	14.5301	0.67920	0.0:0.4672:0.5328:0.0	.	396	O60235	TM11D_HUMAN	S	396;279	ENSP00000283916:P396S;ENSP00000442045:P279S	ENSP00000283916:P396S	P	-	1	0	TMPRSS11D	68370721	0.004000	0.15560	0.806000	0.32338	0.005000	0.04900	0.481000	0.22260	0.756000	0.33013	0.650000	0.86243	CCG	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251430.3		-	ENST00000283916.6	Missense_Mutation	SNP	4 : 68688126 - 68688126 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	811	7
TNC	3371	broad.mit.edu	37	9	117783441	117783441	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr9:117783441C>T	ENST00000341037.4	-	25	6183	c.6055G>A	c.(6055-6057)Gca>Aca	p.A2019T	TNC_ENST00000346706.3_Missense_Mutation_p.A1655T|TNC_ENST00000542877.1_Missense_Mutation_p.A1838T|TNC_ENST00000345230.3_Missense_Mutation_p.A1564T|TNC_ENST00000350763.4_Missense_Mutation_p.A2201T|TNC_ENST00000537320.1_Missense_Mutation_p.A1564T|TNC_ENST00000340094.3_Missense_Mutation_p.A1837T|TNC_ENST00000535648.1_Missense_Mutation_p.A1746T|TNC_ENST00000423613.2_Missense_Mutation_p.A1928T			P24821	TENA_HUMAN	tenascin C	2201	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGAATTTATGCCCGTTTGCGC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	114	119			NA	NA	9		NA											NA				117783441		2203	4300	6503	SO:0001583	missense				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982	3371	3371		Fibrinogen C domain containing, Fibronectin type III domain containing	5318	protein-coding gene	gene with protein product	hexabrachion (tenascin)	187380	hexabrachion (tenascin C, cytotactin), deafness, autosomal dominant 56	HXB, DFNA56	NA	1704365, 1707164, 23936043	Standard	NM_002160	NM_002160	NA	Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000341037.4:c.6055G>A	9.37:g.117783441C>T	ENSP00000339553:p.Ala2019Thr	NA	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	37		.	.	.	.	.	.	.	.	.	.	C	23.9	4.467852	0.84533	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.54071	0.62;0.64;0.87;0.87;0.64;0.73;0.63;0.87;0.59	5.29	4.38	0.52667	.	0.120458	0.64402	D	0.000018	T	0.49541	0.1563	N	0.11927	0.2	0.25781	N	0.984723	D;D	0.55605	0.972;0.972	P;P	0.57720	0.826;0.826	T	0.48636	-0.9018	10	0.32370	T	0.25	.	15.1678	0.72842	0.1423:0.8577:0.0:0.0	.	1928;2201	E9PC84;P24821	.;TENA_HUMAN	T	1837;1746;1655;1564;2201;2019;1928;1564;1838	ENSP00000344400:A1837T;ENSP00000438152:A1746T;ENSP00000344555:A1655T;ENSP00000345861:A1564T;ENSP00000265131:A2201T;ENSP00000339553:A2019T;ENSP00000411406:A1928T;ENSP00000443478:A1564T;ENSP00000442242:A1838T	ENSP00000344400:A1837T	A	-	1	0	TNC	116823262	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	4.814000	0.62627	1.205000	0.43262	0.655000	0.94253	GCA	TNC-011	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397659.2		-	ENST00000341037.4	Missense_Mutation	SNP	9 : 117783441 - 117783441 T PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	313	5
USH2A	7399	broad.mit.edu	37	1	216011345	216011345	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr1:216011345C>T	ENST00000307340.3	-	47	9745	c.9359G>A	c.(9358-9360)gGc>gAc	p.G3120D	USH2A_ENST00000366943.2_Missense_Mutation_p.G3120D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3120	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAAGTGATGCCACGAATTGT	0.388		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													226	203	210			NA	NA	1		NA											NA				216011345		2203	4300	6503	SO:0001583	missense			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9359G>A	1.37:g.216011345C>T	ENSP00000305941:p.Gly3120Asp	NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	0.050	-1.254532	0.01457	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52983	0.64;0.64	5.01	-2.38	0.06622	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.448360	0.04862	N	0.444315	T	0.29190	0.0726	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16482	-1.0401	10	0.12103	T	0.63	.	7.0786	0.25219	0.1833:0.544:0.0:0.2727	.	3120	O75445	USH2A_HUMAN	D	3120	ENSP00000305941:G3120D;ENSP00000355910:G3120D	ENSP00000305941:G3120D	G	-	2	0	USH2A	214077968	0.000000	0.05858	0.006000	0.13384	0.043000	0.13939	0.059000	0.14322	-0.217000	0.10033	-0.302000	0.09304	GGC	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Missense_Mutation	SNP	1 : 216011345 - 216011345 T PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	566	8
ZC2HC1A	51101	broad.mit.edu	37	8	79629684	79629684	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr8:79629684G>A	ENST00000263849.4	+	9	1036	c.934G>A	c.(934-936)Gcc>Acc	p.A312T		NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	312											NA						TGTAGAATGGGCCAAATTTTG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	151	150			NA	NA	8		NA											NA				79629684		2203	4300	6503	SO:0001583	missense				CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427	51101	51101		Zinc fingers, C2HC-type containing	24277	protein-coding gene	gene with protein product			chromosome 8 open reading frame 70, family with sequence similarity 164, member A	C8orf70, FAM164A	NA	10810093	Standard	NM_016010	NM_016010	NA	Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.934G>A	8.37:g.79629684G>A	ENSP00000263849:p.Ala312Thr	NA	Q9Y372	37	CCDS6223.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.750688|4.750688	0.89753|0.89753	.|.	.|.	ENSG00000104427|ENSG00000104427	ENST00000263849|ENST00000519307	T|.	0.58652|.	0.32|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.047976|.	0.85682|.	D|.	0.000000|.	T|T	0.75925|0.75925	0.3916|0.3916	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.75230|0.75230	-0.3391|-0.3391	9|5	.|.	.|.	.|.	-18.263|-18.263	18.9518|18.9518	0.92643|0.92643	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	312|.	Q96GY0|.	F164A_HUMAN|.	T|D	312|183	ENSP00000263849:A312T|.	.|.	A|G	+|+	1|2	0|0	FAM164A|FAM164A	79792239|79792239	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	7.373000|7.373000	0.79623|0.79623	2.548000|2.548000	0.85928|0.85928	0.591000|0.591000	0.81541|0.81541	GCC|GGC	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379423.2		+	ENST00000263849.4	Missense_Mutation	SNP	8 : 79629684 - 79629684 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	794	6
ZNF513	130557	broad.mit.edu	37	2	27600645	27600645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr2:27600645G>A	ENST00000323703.6	-	4	1591	c.1393C>T	c.(1393-1395)Cgg>Tgg	p.R465W	ZNF513_ENST00000407879.1_Missense_Mutation_p.R403W|ZNF513_ENST00000491924.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	465					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGTGTGCCGCAGCATGTGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	158	160			NA	NA	2		NA											NA				27600645		2203	4300	6503	SO:0001583	missense			AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795	130557	130557		Zinc fingers, C2H2-type	26498	protein-coding gene	gene with protein product		613598			NA	12477932	Standard	NM_144631	NM_001201459	NA	Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1393C>T	2.37:g.27600645G>A	ENSP00000318373:p.Arg465Trp	NA	A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	37	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.540370	0.27563	.	.	ENSG00000163795	ENST00000323703;ENST00000407879	T;T	0.18502	2.21;2.21	4.77	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40640	N	0.001058	T	0.40171	0.1106	M	0.70595	2.14	0.39759	D	0.972004	D	0.89917	1.0	D	0.83275	0.996	T	0.40776	-0.9545	10	0.87932	D	0	-7.6818	14.0998	0.65046	0.0:0.0:0.8392:0.1608	.	465	Q8N8E2	ZN513_HUMAN	W	465;403	ENSP00000318373:R465W;ENSP00000384874:R403W	ENSP00000318373:R465W	R	-	1	2	ZNF513	27454149	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	4.501000	0.60393	2.490000	0.84030	0.655000	0.94253	CGG	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215026.2		-	ENST00000323703.6	Missense_Mutation	SNP	2 : 27600645 - 27600645 A PAAD-TCGA-IB-AAUT-Tumor-SM-5PNP1	1001	7
