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
ARHGEF25	115557	broad.mit.edu	37	12	58010135	58010135	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:58010135C>T	ENST00000286494.4	+	14	1949	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S	ARHGEF25_ENST00000333972.7_Missense_Mutation_p.P536S|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	497					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GCCAAGAGGGCCTGGAGTGGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	SER/PRO,SER/PRO	1,4405	2.1+/-5.4	0,1,2202	65	68	67		1606,1489	0.8	0	12		67	0,8600		0,0,4300	no	missense,missense	ARHGEF25	NM_001111270.1,NM_182947.2	74,74	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign,benign	536/620,497/581	58010135	1,13005	2203	4300	6503	SO:0001583	missense				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771	115557	115557		Rho guanine nucleotide exchange factors	30275	protein-coding gene	gene with protein product	RAC/CDC42 exchange factor	610215			NA	12547822	Standard	NM_133483	NM_182947	NA	Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1489C>T	12.37:g.58010135C>T	ENSP00000286494:p.Pro497Ser	NA	A6NJH5|Q8WV84|Q96E63	37	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	c	5.613	0.297820	0.10622	2.27E-4	0.0	ENSG00000240771	ENST00000333972;ENST00000286494	T;T	0.27890	1.64;1.64	4.88	0.814	0.18756	Pleckstrin homology-type (1);	0.933227	0.08799	N	0.891986	T	0.19604	0.0471	L	0.42245	1.32	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.09377	0.004;0.001	T	0.35226	-0.9797	10	0.07325	T	0.83	.	4.0346	0.09724	0.0:0.4689:0.2308:0.3004	.	536;497	F8W7Z4;Q86VW2	.;ARHGP_HUMAN	S	536;497	ENSP00000335560:P536S;ENSP00000286494:P497S	ENSP00000286494:P497S	P	+	1	0	ARHGEF25	56296402	0.990000	0.36364	0.004000	0.12327	0.753000	0.42808	1.636000	0.37144	0.282000	0.22254	0.650000	0.86243	CCT	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326561.1		+	ENST00000286494.4	Missense_Mutation	SNP	12 : 58010135 - 58010135 T PAAD-TCGA-IB-7649-Tumor-SM-2NW88	505	73
BCHE	590	broad.mit.edu	37	3	165548002	165548002	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:165548002A>C	ENST00000264381.3	-	2	986	c.820T>G	c.(820-822)Tta>Gta	p.L274V	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	274					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AATTTAGCTAAGTTCAACGTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	102	100			NA	NA	3		NA											NA				165548002		2203	4299	6502	SO:0001583	missense			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	590	590	3.1.1.8		983	protein-coding gene	gene with protein product		177400	cholinesterase 1, cholinesterase (serum) 2	CHE1, CHE2	NA	1769657, 2318303	Standard		NM_000055	NA	Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.820T>G	3.37:g.165548002A>C	ENSP00000264381:p.Leu274Val	NA	A8K7P8	37	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	A	8.722	0.914687	0.17907	.	.	ENSG00000114200	ENST00000264381	T	0.71341	-0.56	5.62	3.23	0.37069	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000001	T	0.78104	0.4231	M	0.68317	2.08	0.80722	D	1	P	0.40211	0.707	P	0.55785	0.784	T	0.76774	-0.2835	10	0.87932	D	0	.	9.2194	0.37366	0.8528:0.0:0.1472:0.0	.	274	P06276	CHLE_HUMAN	V	274	ENSP00000264381:L274V	ENSP00000264381:L274V	L	-	1	2	BCHE	167030696	0.408000	0.25360	0.251000	0.24312	0.017000	0.09413	1.019000	0.30014	0.419000	0.25927	0.533000	0.62120	TTA	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350254.1		-	ENST00000264381.3	Missense_Mutation	SNP	3 : 165548002 - 165548002 C PAAD-TCGA-IB-7649-Tumor-SM-2NW88	758	92
BEND7	222389	broad.mit.edu	37	10	13534699	13534699	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:13534699A>T	ENST00000341083.3	-	5	889	c.593T>A	c.(592-594)cTa>cAa	p.L198Q	BEND7_ENST00000396900.2_Missense_Mutation_p.L250Q|BEND7_ENST00000396898.2_Missense_Mutation_p.L263Q|BEND7_ENST00000378605.3_Missense_Mutation_p.L211Q	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	250							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						GAGAGCAGATAGCTCAGAGGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	121	120			NA	NA	10		NA											NA				13534699		2203	4300	6503	SO:0001583	missense			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626	222389	222389		BEN domain containing	23514	protein-coding gene	gene with protein product			chromosome 10 open reading frame 30	C10orf30	NA		Standard	NM_152751	NM_152751	NA	Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000341083.3:c.593T>A	10.37:g.13534699A>T	ENSP00000345773:p.Leu198Gln	NA	Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	37	CCDS7099.1	.	.	.	.	.	.	.	.	.	.	A	0.062	-1.222652	0.01530	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.42900	0.97;0.96;1.01;1.0	5.57	1.77	0.24775	.	1.910940	0.01827	N	0.034462	T	0.14743	0.0356	N	0.01352	-0.895	0.18873	N	0.999986	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.25537	-1.0129	10	0.11794	T	0.64	-0.0468	0.9763	0.01426	0.1446:0.1993:0.205:0.4511	.	263;198	E5RFC0;Q8N7W2-3	.;.	Q	250;198;263;211	ENSP00000380108:L250Q;ENSP00000345773:L198Q;ENSP00000380107:L263Q;ENSP00000367868:L211Q	ENSP00000345773:L198Q	L	-	2	0	BEND7	13574705	0.168000	0.22989	0.353000	0.25747	0.028000	0.11728	0.366000	0.20365	0.404000	0.25506	-0.347000	0.07816	CTA	BEND7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046863.1		-	ENST00000341083.3	Missense_Mutation	SNP	10 : 13534699 - 13534699 T PAAD-TCGA-IB-7649-Tumor-SM-2NW88	1164	89
BIN1	274	broad.mit.edu	37	2	127806138	127806138	+	Silent	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:127806138G>A	ENST00000316724.5	-	19	2157	c.1746C>T	c.(1744-1746)ggC>ggT	p.G582G	BIN1_ENST00000351659.3_Silent_p.G495G|BIN1_ENST00000376113.2_Silent_p.G413G|BIN1_ENST00000346226.3_Silent_p.G507G|BIN1_ENST00000357970.3_Silent_p.G539G|BIN1_ENST00000393040.3_Silent_p.G471G|BIN1_ENST00000259238.4_Silent_p.G486G|BIN1_ENST00000348750.4_Silent_p.G398G|BIN1_ENST00000409400.1_Silent_p.G428G|BIN1_ENST00000352848.3_Silent_p.G443G|BIN1_ENST00000393041.3_Silent_p.G464G	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	582	SH3.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus		p.G582G(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CGGGGAAGACGCCACGGCACT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											95	91	92			NA	NA	2		NA											NA				127806138		2203	4300	6503	SO:0001819	synonymous_variant			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717	274	274			1052	protein-coding gene	gene with protein product	amphiphysin II	601248		AMPHL	NA	8725406, 8782822, 17676042	Standard	NM_139343	NM_004305	NA	Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.1746C>T	2.37:g.127806138G>A		NA	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	37	CCDS2138.1																																																																																			BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254298.2		-	ENST00000316724.5	Silent	SNP	2 : 127806138 - 127806138 A PAAD-TCGA-IB-7649-Tumor-SM-2NW88	560	42
BTAF1	9044	broad.mit.edu	37	10	93711219	93711219	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:93711219G>C	ENST00000265990.6	+	5	768	c.460G>C	c.(460-462)Ggc>Cgc	p.G154R		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	154					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GAAGAAACTTGGCCTTAATAT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	101	101			NA	NA	10		NA											NA				93711219		2203	4300	6503	SO:0001583	missense			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564	9044	9044			17307	protein-coding gene	gene with protein product	Mot1 homolog (S. cerevisiae)	605191	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)		NA	9342322, 9488487	Standard	NM_003972	NM_003972	NA	Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.460G>C	10.37:g.93711219G>C	ENSP00000265990:p.Gly154Arg	NA	O43578	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762311	0.89932	.	.	ENSG00000095564	ENST00000265990	D	0.96041	-3.89	4.97	4.97	0.65823	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.97729	0.9255	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.98183	1.0458	10	0.59425	D	0.04	-22.9285	18.5949	0.91226	0.0:0.0:1.0:0.0	.	154	O14981	BTAF1_HUMAN	R	154	ENSP00000265990:G154R	ENSP00000265990:G154R	G	+	1	0	BTAF1	93701199	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.420000	0.97426	2.478000	0.83669	0.467000	0.42956	GGC	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049380.4		+	ENST00000265990.6	Missense_Mutation	SNP	10 : 93711219 - 93711219 C PAAD-TCGA-IB-7649-Tumor-SM-2NW88	526	34
C15orf59	388135	broad.mit.edu	37	15	74032751	74032751	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:74032751G>A	ENST00000569673.1	-	3	1593	c.389C>T	c.(388-390)tCg>tTg	p.S130L	C15orf59_ENST00000379822.4_Missense_Mutation_p.S130L|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	130										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGGCCGAGTCGACTCGGGACC	0.627		NA											G	2	9e-04	NA	NA	2184	0.0035	0.9989	,	,	NA	4e-04	NA	NA	NA	0.0011	0.6013	EXOME	NA	NA	5e-04	SNP								NA				0													57	62	60			NA	NA	15		NA											NA				74032751		2197	4295	6492	SO:0001583	missense				CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363	388135	388135			33753	protein-coding gene	gene with protein product					NA		Standard	NM_001039614	XM_005254369	NA	Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.389C>T	15.37:g.74032751G>A	ENSP00000457205:p.Ser130Leu	NA		37	CCDS32289.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	9.372	1.070796	0.20147	.	.	ENSG00000205363	ENST00000379822	T	0.45276	0.9	4.62	3.71	0.42584	.	0.982181	0.08300	N	0.967019	T	0.23171	0.0560	N	0.08118	0	0.26565	N	0.973666	B	0.02656	0.0	B	0.04013	0.001	T	0.18808	-1.0325	10	0.28530	T	0.3	.	7.1777	0.25755	0.0896:0.0:0.7437:0.1667	.	130	Q2T9L4	CO059_HUMAN	L	130	ENSP00000369150:S130L	ENSP00000369150:S130L	S	-	2	0	C15orf59	71819804	0.002000	0.14202	0.245000	0.24217	0.633000	0.38033	0.051000	0.14141	1.156000	0.42514	0.561000	0.74099	TCG	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419077.2		-	ENST00000569673.1	Missense_Mutation	SNP	15 : 74032751 - 74032751 A PAAD-TCGA-IB-7649-Tumor-SM-2NW88	760	96
CACNB1	782	broad.mit.edu	37	17	37334238	37334238	+	Splice_Site	SNP	G	G	T	rs143114489		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:37334238G>T	ENST00000394303.3	-	12	1352	c.1145C>A	c.(1144-1146)cCt>cAt	p.P382H	CACNB1_ENST00000344140.5_Splice_Site_p.P427H|CACNB1_ENST00000394310.3_Splice_Site_p.P382H	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	382					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GGCACTCACAGGGGGGCACTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(5;100 366 38393 41452 45827)							NA				0													110	108	109			NA	NA	17		NA											NA				37334238		2203	4300	6503	SO:0001630	splice_region_variant				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191	782	782		Calcium channel subunits	1401	protein-coding gene	gene with protein product		114207		CACNLB1	NA	8381767, 8395940	Standard		NM_000723	NA	Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1146+1C>A	17.37:g.37334238G>T		NA	A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	37	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409770	0.62399	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	D;D;D	0.83250	-1.7;-1.7;-1.7	5.12	5.12	0.69794	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	D	0.91439	0.7298	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	0.999;0.99;1.0	D;P;D	0.91635	0.953;0.683;0.999	D	0.92338	0.5879	10	0.87932	D	0	-17.0252	17.493	0.87709	0.0:0.0:1.0:0.0	.	427;382;382	Q02641-2;Q02641-3;Q02641	.;.;CACB1_HUMAN	H	332;382;427;382;333	ENSP00000377840:P382H;ENSP00000345461:P427H;ENSP00000377847:P382H	ENSP00000345461:P427H	P	-	2	0	CACNB1	34587764	1.000000	0.71417	0.928000	0.36995	0.384000	0.30261	7.501000	0.81600	2.674000	0.91012	0.467000	0.42956	CCT	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256945.3	Missense_Mutation	-	ENST00000394303.3	Splice_Site	SNP	17 : 37334238 - 37334238 T PAAD-TCGA-IB-7649-Tumor-SM-2NW88	595	61
CHGB	1114	broad.mit.edu	37	20	5903661	5903661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr20:5903661G>A	ENST00000378961.4	+	4	1075	c.871G>A	c.(871-873)Gac>Aac	p.D291N		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	291						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGCAGGCCCGACAGGTCCTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	28	27			NA	NA	20		NA											NA				5903661		2203	4300	6503	SO:0001583	missense				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199	1114	1114			1930	protein-coding gene	gene with protein product	secretogranin B	118920		SCG1	NA	3608978	Standard	NM_001819	NM_001819	NA	Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.871G>A	20.37:g.5903661G>A	ENSP00000368244:p.Asp291Asn	NA	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	37	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073615	0.36566	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.02050	4.48;4.48	5.11	4.15	0.48705	.	0.314175	0.28515	N	0.015066	T	0.02156	0.0067	L	0.46741	1.465	0.20307	N	0.999911	P	0.37997	0.614	B	0.34346	0.18	T	0.42816	-0.9429	10	0.12766	T	0.61	-27.4409	7.586	0.27993	0.0861:0.0:0.7505:0.1634	.	291	P05060	SCG1_HUMAN	N	291;271	ENSP00000368244:D291N;ENSP00000416643:D271N	ENSP00000368244:D291N	D	+	1	0	CHGB	5851661	0.928000	0.31464	0.965000	0.40720	0.653000	0.38743	2.775000	0.47702	1.114000	0.41781	0.563000	0.77884	GAC	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077897.2		+	ENST00000378961.4	Missense_Mutation	SNP	20 : 5903661 - 5903661 A PAAD-TCGA-IB-7649-Tumor-SM-2NW88	134	11
COLEC11	78989	broad.mit.edu	37	2	3691377	3691377	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:3691377G>A	ENST00000403096.3	+	6	898	c.407G>A	c.(406-408)cGc>cAc	p.R136H	COLEC11_ENST00000418971.2_Missense_Mutation_p.R176H|COLEC11_ENST00000382062.2_Missense_Mutation_p.R138H|COLEC11_ENST00000349077.4_Missense_Mutation_p.R162H|COLEC11_ENST00000402922.1_Missense_Mutation_p.R112H|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Missense_Mutation_p.R88H|COLEC11_ENST00000402794.1_Missense_Mutation_p.R112H|COLEC11_ENST00000236693.7_Missense_Mutation_p.R159H	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	162						collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GAGGAGAAGCGCTACGCGGAC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	44	45	45		485,476	3.4	0.1	2		45	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	COLEC11	NM_024027.3,NM_199235.1	29,29	0,1,6500	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	162/272,159/269	3691377	1,13001	2203	4298	6501	SO:0001583	missense			BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004	78989	78989		Collectins	17213	protein-coding gene	gene with protein product	Collectin K1	612502			NA		Standard	NM_024027	NM_024027	NA	Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000403096.3:c.407G>A	2.37:g.3691377G>A	ENSP00000385130:p.Arg136His	NA	A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|Q5CZ85|Q7Z6N1	37	CCDS58691.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781246	0.31502	0.0	1.16E-4	ENSG00000118004	ENST00000382062;ENST00000236693;ENST00000349077;ENST00000418971;ENST00000403096;ENST00000402794;ENST00000404205;ENST00000402922	T;T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31	5.2	3.38	0.38709	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.147737	0.56097	D	0.000035	T	0.27313	0.0670	L	0.45352	1.415	0.29046	N	0.884807	D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.997;1.0;0.998;1.0;1.0;0.999	P;D;D;P;D;P;D;D;D	0.71184	0.866;0.949;0.972;0.823;0.972;0.828;0.949;0.956;0.92	T	0.06197	-1.0840	10	0.59425	D	0.04	-22.5104	5.7615	0.18203	0.1596:0.0:0.6835:0.157	.	88;112;112;136;114;138;138;162;159	Q9BWP8-8;Q9BWP8-7;Q9BWP8-6;Q9BWP8-4;Q9BWP8-5;Q9BWP8-3;Q9BWP8-2;Q9BWP8;Q9BWP8-9	.;.;.;.;.;.;.;COL11_HUMAN;.	H	138;159;162;176;136;112;88;112	ENSP00000371494:R138H;ENSP00000236693:R159H;ENSP00000339168:R162H;ENSP00000411770:R176H;ENSP00000385130:R136H;ENSP00000384882:R112H;ENSP00000385827:R88H;ENSP00000385653:R112H	ENSP00000236693:R159H	R	+	2	0	COLEC11	3669252	0.999000	0.42202	0.087000	0.20705	0.002000	0.02628	3.349000	0.52217	0.564000	0.29238	-0.518000	0.04402	CGC	COLEC11-007	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322776.1		+	ENST00000403096.3	Missense_Mutation	SNP	2 : 3691377 - 3691377 A PAAD-TCGA-IB-7649-Tumor-SM-2NW88	436	42
CYP7A1	1581	broad.mit.edu	37	8	59404129	59404129	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:59404129C>G	ENST00000301645.3	-	6	1557	c.1420G>C	c.(1420-1422)Gct>Cct	p.A474P		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	474					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GGACATTTAGCTTGGCCCTCT	0.388		NA							Neonatal Giant Cell Hepatitis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	52	52			NA	NA	8		NA											NA				59404129		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Neonatal Hemochromatosis	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1581	1581	1.14.13.17	Cytochrome P450s	2651	protein-coding gene	gene with protein product	cholesterol 7 alpha-monooxygenase	118455	cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1	CYP7	NA	1358792	Standard	NM_000780	NM_000780	NA	Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1420G>C	8.37:g.59404129C>G	ENSP00000301645:p.Ala474Pro	NA	P78454|Q3MIL8|Q7KZ19	37	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	C	3.564	-0.089000	0.07097	.	.	ENSG00000167910	ENST00000301645	T	0.68903	-0.36	5.87	2.84	0.33178	.	0.680316	0.16054	N	0.231815	T	0.44993	0.1320	N	0.20574	0.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20207	-1.0282	10	0.29301	T	0.29	-4.2366	4.4174	0.11463	0.1293:0.6122:0.1248:0.1336	.	474	P22680	CP7A1_HUMAN	P	474	ENSP00000301645:A474P	ENSP00000301645:A474P	A	-	1	0	CYP7A1	59566683	0.028000	0.19301	0.004000	0.12327	0.042000	0.13812	1.296000	0.33389	0.877000	0.35895	0.655000	0.94253	GCT	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378190.1		-	ENST00000301645.3	Missense_Mutation	SNP	8 : 59404129 - 59404129 G PAAD-TCGA-IB-7649-Tumor-SM-2NW88	487	47
DDHD1	80821	broad.mit.edu	37	14	53558534	53558534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr14:53558534C>T	ENST00000323669.5	-	4	1257	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N	DDHD1_ENST00000395606.1_Missense_Mutation_p.D427N|DDHD1_ENST00000357758.3_Missense_Mutation_p.D420N	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	420					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	p.D420H(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTCCTTGGTCCATTTTCTGC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	cervix(2)											172	163	166			NA	NA	14		NA											NA				53558534		2203	4300	6503	SO:0001583	missense			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523	NA	80821			19714	protein-coding gene	gene with protein product	phosphatidic acid-preferring phospholipase A1	614603	spastic paraplegia 28 (autosomal recessive)	SPG28	NA	11214970, 20359546	Standard		NM_030637	NA	Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1258G>A	14.37:g.53558534C>T	ENSP00000327104:p.Asp420Asn	NA	Q8WVH3|Q96LL2|Q9C0F8	37	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160544	0.94727	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	T;T;T	0.52526	0.66;0.66;0.66	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.70640	0.3247	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;D	0.91635	0.99;0.999;0.936	T	0.71206	-0.4661	10	0.52906	T	0.07	-20.9578	19.563	0.95380	0.0:1.0:0.0:0.0	.	427;420;420	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	N	420;427;420;291	ENSP00000327104:D420N;ENSP00000378970:D427N;ENSP00000350401:D420N	ENSP00000327104:D420N	D	-	1	0	DDHD1	52628284	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.694000	0.84235	2.630000	0.89119	0.561000	0.74099	GAC	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276901.1		-	ENST00000323669.5	Missense_Mutation	SNP	14 : 53558534 - 53558534 T PAAD-TCGA-IB-7649-Tumor-SM-2NW88	754	92
ELMOD1	55531	broad.mit.edu	37	11	107535878	107535878	+	Silent	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:107535878G>A	ENST00000531234.1	+	13	1500	c.942G>A	c.(940-942)gcG>gcA	p.A314A	ELMOD1_ENST00000265840.7_Silent_p.A320A|ELMOD1_ENST00000443271.2_Silent_p.A312A			Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	320	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CAGACATGGCGCTGTGCCCAC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	139	136			NA	NA	11		NA											NA				107535878		2062	4204	6266	SO:0001819	synonymous_variant			AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675	55531	55531			25334	protein-coding gene	gene with protein product		615456	ELMO domain containing 1		NA	12477932	Standard	NM_018712	NM_018712	NA	Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000531234.1:c.942G>A	11.37:g.107535878G>A		NA	Q9NPW3	37																																																																																				ELMOD1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000389405.1		+	ENST00000531234.1	Silent	SNP	11 : 107535878 - 107535878 A PAAD-TCGA-IB-7649-Tumor-SM-2NW88	1065	184
FAT4	79633	broad.mit.edu	37	4	126412333	126412333	+	Missense_Mutation	SNP	G	G	A	rs138173652		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:126412333G>A	ENST00000394329.3	+	17	14369	c.14356G>A	c.(14356-14358)Gga>Aga	p.G4786R	FAT4_ENST00000335110.5_Missense_Mutation_p.G3027R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4786					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCTCCAGTCGGACTTTCTAT	0.527		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	2e-04	0.0013	NA	NA	4e-04	0.95	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								G	ARG/GLY	0,4406		0,0,2203	54	57	56		14356	4.9	0.1	4	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAT4	NM_024582.4	125	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	4786/4982	126412333	1,13005	2203	4300	6503	SO:0001583	missense			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14356G>A	4.37:g.126412333G>A	ENSP00000377862:p.Gly4786Arg	NA	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.72	2.620909	0.46736	0.0	1.16E-4	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.89746	-2.36;-2.56	4.87	4.87	0.63330	.	0.000000	0.33959	U	0.004384	D	0.94125	0.8116	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.94900	0.8055	10	0.87932	D	0	.	17.0284	0.86454	0.0:0.0:1.0:0.0	.	3027;4786;4785	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	R	4786;3027	ENSP00000377862:G4786R;ENSP00000335169:G3027R	ENSP00000335169:G3027R	G	+	1	0	FAT4	126631783	1.000000	0.71417	0.095000	0.20976	0.024000	0.10985	9.135000	0.94478	2.253000	0.74438	0.491000	0.48974	GGA	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Missense_Mutation	SNP	4 : 126412333 - 126412333 A PAAD-TCGA-IB-7649-Tumor-SM-2NW88	561	51
GAB2	9846	broad.mit.edu	37	11	77937956	77937956	+	Silent	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:77937956C>T	ENST00000361507.4	-	4	847	c.762G>A	c.(760-762)ccG>ccA	p.P254P	GAB2_ENST00000340149.2_Silent_p.P216P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	254					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TGTGCCGGCTCGGCTTGGGAA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	70	76			NA	NA	11		NA											NA				77937956		2200	4292	6492	SO:0001819	synonymous_variant			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327	9846	9846		Pleckstrin homology (PH) domain containing	14458	protein-coding gene	gene with protein product	Grb2-associated binder 2	606203			NA	10391903, 10068651	Standard	NM_080491	NM_080491	NA	Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.762G>A	11.37:g.77937956C>T		NA	A2RRM2|A6NEW9|A7MD36|O60317	37	CCDS8259.1																																																																																			GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391085.1		-	ENST00000361507.4	Silent	SNP	11 : 77937956 - 77937956 T PAAD-TCGA-IB-7649-Tumor-SM-2NW88	441	28
HIST1H2BJ	8970	broad.mit.edu	37	6	27100336	27100336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:27100336G>A	ENST00000607124.1	-	1	193	c.194C>T	c.(193-195)tCg>tTg	p.S65L	HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.S65L|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.S65L			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	65					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GTTCACAAACGAATTCATGAT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	170	173			NA	NA	6		NA											NA				27100336		2203	4300	6503	SO:0001583	missense			X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635	8970	8970		Histones / Replication-dependent	4761	protein-coding gene	gene with protein product		615044	H2B histone family, member R, histone 1, H2bj	H2BFR	NA	6647026, 12408966	Standard	NM_021058	NM_021058	NA	Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.194C>T	6.37:g.27100336G>A	ENSP00000476136:p.Ser65Leu	NA	B2R4J4|O60816	37	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294289	0.60086	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.70986	-0.53;-0.53	4.17	4.17	0.49024	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.85535	0.5719	M	0.93197	3.39	0.53005	D	0.999962	D	0.89917	1.0	D	0.78314	0.991	D	0.89287	0.3616	9	0.87932	D	0	.	14.8046	0.69942	0.0:0.0:1.0:0.0	.	65	P06899	H2B1J_HUMAN	L	65	ENSP00000445633:S65L;ENSP00000342886:S65L	ENSP00000342886:S65L	S	-	2	0	HIST1H2BJ	27208315	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	5.831000	0.69330	2.273000	0.75805	0.591000	0.81541	TCG	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040138.2		-	ENST00000607124.1	Missense_Mutation	SNP	6 : 27100336 - 27100336 A PAAD-TCGA-IB-7649-Tumor-SM-2NW88	1262	71
HTR1B	3351	broad.mit.edu	37	6	78172557	78172557	+	Silent	SNP	A	A	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:78172557A>C	ENST00000369947.2	-	1	933	c.564T>G	c.(562-564)cgT>cgG	p.R188R		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	188					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CCTTAGCCTGACGCCAGAAGA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	73	71			NA	NA	6		NA											NA				78172557		2203	4300	6503	SO:0001819	synonymous_variant			BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312	3351	3351		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5287	protein-coding gene	gene with protein product		182131	5-hydroxytryptamine (serotonin) receptor 1B		NA	1348246, 11247661	Standard	NM_000863	NM_000863	NA	Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.564T>G	6.37:g.78172557A>C		NA	Q4VAY7	37	CCDS4986.1																																																																																			HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041292.1		-	ENST00000369947.2	Silent	SNP	6 : 78172557 - 78172557 C PAAD-TCGA-IB-7649-Tumor-SM-2NW88	552	24
IGSF10	285313	broad.mit.edu	37	3	151164707	151164707	+	Missense_Mutation	SNP	C	C	T	rs35114212	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:151164707C>T	ENST00000282466.3	-	4	3061	c.3062G>A	c.(3061-3063)cGg>cAg	p.R1021Q		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1021					cell differentiation|multicellular organismal development|ossification	extracellular region		p.R1021Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTGATAATCCGCCCCCTTCC	0.473		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	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	74	77	76		3062	3.6	0	3	dbSNP_126	76	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGSF10	NM_178822.4	43	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	probably-damaging	1021/2624	151164707	2,13004	2203	4300	6503	SO:0001583	missense			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580	285313	285313		Immunoglobulin superfamily / I-set domain containing	26384	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178822	NM_178822	NA	Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3062G>A	3.37:g.151164707C>T	ENSP00000282466:p.Arg1021Gln	NA	Q86YJ9|Q8N772|Q8NA84	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358254	0.41801	2.27E-4	1.16E-4	ENSG00000152580	ENST00000282466	T	0.75704	-0.96	5.46	3.6	0.41247	.	0.000000	0.42821	D	0.000651	T	0.56558	0.1993	L	0.36672	1.1	0.09310	N	1	P	0.41159	0.74	B	0.26969	0.075	T	0.53063	-0.8491	10	0.66056	D	0.02	.	8.8832	0.35387	0.0:0.7369:0.1239:0.1392	rs35114212	1021	Q6WRI0	IGS10_HUMAN	Q	1021	ENSP00000282466:R1021Q	ENSP00000282466:R1021Q	R	-	2	0	IGSF10	152647397	0.822000	0.29219	0.014000	0.15608	0.012000	0.07955	2.017000	0.40981	0.623000	0.30267	0.591000	0.81541	CGG	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357782.1		-	ENST00000282466.3	Missense_Mutation	SNP	3 : 151164707 - 151164707 T PAAD-TCGA-IB-7649-Tumor-SM-2NW88	647	46
KCNK3	3777	broad.mit.edu	37	2	26951301	26951301	+	Silent	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:26951301C>T	ENST00000302909.3	+	2	1175	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	350					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGGAGGGGGCGGCCGCTACA	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(80;1457 1631 27100 45946)							NA				0													12	11	11			NA	NA	2		NA											NA				26951301		2157	4232	6389	SO:0001819	synonymous_variant			AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303	3777	3777		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6278	protein-coding gene	gene with protein product		603220			NA	9312005, 9721223, 16382106	Standard	NM_002246	NM_002246	NA	Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.1050C>T	2.37:g.26951301C>T		NA	Q53SU2	37	CCDS1727.1																																																																																			KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246861.2		+	ENST00000302909.3	Silent	SNP	2 : 26951301 - 26951301 T PAAD-TCGA-IB-7649-Tumor-SM-2NW88	85	9
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	rs17851045		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:25380275T>G	ENST00000311936.3	-	3	374	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	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.Q61H(153)	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)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_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	153	Substitution - Missense(153)	large_intestine(74)|lung(26)|pancreas(18)|haematopoietic_and_lymphoid_tissue(9)|endometrium(7)|soft_tissue(3)|biliary_tract(3)|liver(3)|cervix(2)|skin(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)|NS(1)											109	98	102			NA	NA	12		NA											NA				25380275		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.183A>C	12.37:g.25380275T>G	ENSP00000308495:p.Gln61His	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133750	0.77662	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	.	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	KRAS	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	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 : 25380275 - 25380275 G PAAD-TCGA-IB-7649-Tumor-SM-2NW88	475	37
LRP5	4041	broad.mit.edu	37	11	68190978	68190978	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:68190978A>T	ENST00000294304.7	+	14	3155	c.3049A>T	c.(3049-3051)Agc>Tgc	p.S1017C		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1017	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACCTCTCTGAGCCAAGGCCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	108	108			NA	NA	11		NA											NA				68190978		2200	4294	6494	SO:0001583	missense			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337	4041	4041		Low density lipoprotein receptors	6697	protein-coding gene	gene with protein product		603506	osteoporosis pseudoglioma syndrome, exudative vitreoretinopathy 1	LRP7, OPPG, EVR1	NA	9714764, 10049586	Standard	NM_002335	XM_005273994	NA	Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3049A>T	11.37:g.68190978A>T	ENSP00000294304:p.Ser1017Cys	NA	Q96TD6|Q9UP66	37	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.026432	0.35701	.	.	ENSG00000162337	ENST00000294304	D	0.91407	-2.84	4.03	-2.07	0.07276	Six-bladed beta-propeller, TolB-like (1);	0.252624	0.26106	U	0.026301	D	0.83603	0.5290	L	0.32530	0.975	0.09310	N	1	P;P	0.40875	0.731;0.731	B;B	0.42087	0.375;0.375	T	0.77051	-0.2731	10	0.54805	T	0.06	.	9.1434	0.36917	0.6278:0.0:0.3722:0.0	.	1017;1017	Q9UES7;O75197	.;LRP5_HUMAN	C	1017	ENSP00000294304:S1017C	ENSP00000294304:S1017C	S	+	1	0	LRP5	67947554	0.013000	0.17824	0.008000	0.14137	0.893000	0.52053	0.331000	0.19733	-0.329000	0.08527	0.397000	0.26171	AGC	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395088.1		+	ENST00000294304.7	Missense_Mutation	SNP	11 : 68190978 - 68190978 T PAAD-TCGA-IB-7649-Tumor-SM-2NW88	929	137
LRRN2	10446	broad.mit.edu	37	1	204587730	204587730	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:204587730C>T	ENST00000367175.1	-	1	3603	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q	LRRN2_ENST00000367177.3_Missense_Mutation_p.R464Q|LRRN2_ENST00000367176.3_Missense_Mutation_p.R464Q			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	464	Ig-like C2-type.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGGTGTCAGTCGAAGCCCAGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	55	56			NA	NA	1		NA											NA				204587730		2203	4300	6503	SO:0001583	missense			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382	10446	10446		Immunoglobulin superfamily / I-set domain containing	16914	protein-coding gene	gene with protein product	leucine rich and ankyrin repeats 1, fibronectin type III, immunoglobulin and leucine rich repeat domain 7	605492	leucine rich repeat neuronal 5	LRRN5	NA	9662332	Standard	NM_006338	NM_006338	NA	Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1391G>A	1.37:g.204587730C>T	ENSP00000356143:p.Arg464Gln	NA	B2R624|Q5T0Y0|Q6UXM0|Q8N182	37	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616534	0.46736	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.66099	-0.19;-0.19;-0.19	5.53	5.53	0.82687	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35805	N	0.002967	T	0.63522	0.2518	L	0.27975	0.815	0.40277	D	0.978359	D	0.76494	0.999	D	0.67103	0.949	T	0.66248	-0.5971	10	0.56958	D	0.05	.	7.6259	0.28212	0.0:0.798:0.0:0.202	.	464	O75325	LRRN2_HUMAN	Q	464	ENSP00000356144:R464Q;ENSP00000356145:R464Q;ENSP00000356143:R464Q	ENSP00000356143:R464Q	R	-	2	0	LRRN2	202854353	0.999000	0.42202	0.996000	0.52242	0.318000	0.28184	1.920000	0.40025	2.604000	0.88044	0.591000	0.81541	CGA	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089894.1		-	ENST00000367175.1	Missense_Mutation	SNP	1 : 204587730 - 204587730 T PAAD-TCGA-IB-7649-Tumor-SM-2NW88	342	27
MIDN	90007	broad.mit.edu	37	19	1257115	1257115	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:1257115C>A	ENST00000591446.2	+	7	1660	c.1251C>A	c.(1249-1251)caC>caA	p.H417Q	MIDN_ENST00000300952.2_Missense_Mutation_p.H417Q			Q504T8	MIDN_HUMAN	midnolin	417						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCGTACCACTGGTCACCCA	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	20	18			NA	NA	19		NA											NA				1257115		2198	4280	6478	SO:0001583	missense			AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470	90007	90007			16298	protein-coding gene	gene with protein product		606700			NA	10974535	Standard		XM_005259671	NA	Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.1251C>A	19.37:g.1257115C>A	ENSP00000467679:p.His417Gln	NA	Q96BW8	37	CCDS32864.1	.	.	.	.	.	.	.	.	.	.	c	10.84	1.464720	0.26335	.	.	ENSG00000167470	ENST00000300952	.	.	.	3.44	2.35	0.29111	.	0.065017	0.64402	U	0.000010	T	0.33673	0.0871	N	0.21448	0.665	0.39096	D	0.961197	B	0.30824	0.296	B	0.31442	0.13	T	0.25222	-1.0138	9	0.40728	T	0.16	-22.3707	7.0601	0.25121	0.0:0.774:0.0:0.226	.	417	Q504T8	MIDN_HUMAN	Q	417	.	ENSP00000300952:H417Q	H	+	3	2	MIDN	1208115	1.000000	0.71417	1.000000	0.80357	0.352000	0.29268	1.267000	0.33050	1.756000	0.51951	0.486000	0.48141	CAC	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449965.2		+	ENST00000591446.2	Missense_Mutation	SNP	19 : 1257115 - 1257115 A PAAD-TCGA-IB-7649-Tumor-SM-2NW88	270	22
MRVI1	10335	broad.mit.edu	37	11	10597887	10597887	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:10597887C>A	ENST00000423302.2	-	21	2880	c.2731G>T	c.(2731-2733)Gag>Tag	p.E911*	MRVI1_ENST00000424001.1_Nonsense_Mutation_p.E596*|MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000547195.1_Nonsense_Mutation_p.E820*|MRVI1_ENST00000541483.1_Nonsense_Mutation_p.E705*|MRVI1_ENST00000534266.2_Nonsense_Mutation_p.E596*|MRVI1_ENST00000436272.1_Nonsense_Mutation_p.E884*|MRVI1_ENST00000552103.1_Nonsense_Mutation_p.E820*|MRVI1_ENST00000558540.1_Nonsense_Mutation_p.E596*|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000531107.1_Nonsense_Mutation_p.E903*|MRVI1_ENST00000527509.2_Nonsense_Mutation_p.E820*|MRVI1_ENST00000545852.1_Nonsense_Mutation_p.E596*|MRVI1_ENST00000421747.1_Nonsense_Mutation_p.E902*	NM_001206880.1|NM_130385.3	NP_001193809.1|NP_569056.4	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	884					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCCTACTGCTCTGTAGGCTGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	63	63			NA	NA	11		NA											NA				10597887		2001	4164	6165	SO:0001587	stop_gained			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952	10335	10335			7237	protein-coding gene	gene with protein product	inositol 1,4,5-triphosphate-associated cGMP kinase substrate, IP3R-associated cGMP kinase substrate	604673			NA	10321731	Standard	NM_001098579	NM_001098579	NA	Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000423302.2:c.2731G>T	11.37:g.10597887C>A	ENSP00000412130:p.Glu911*	NA	B7Z6I2|Q17S00|Q9UNY1	37	CCDS55746.1	.	.	.	.	.	.	.	.	.	.	C	37	6.421158	0.97555	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	.	.	.	5.82	5.82	0.92795	.	0.067651	0.56097	D	0.000025	.	.	.	.	.	.	0.48236	D	0.999611	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.5337	17.8936	0.88879	0.0:1.0:0.0:0.0	.	.	.	.	X	902;885;884;820;820;596;596;911;705;903;820	.	ENSP00000307885:E885X	E	-	1	0	MRVI1	10554463	1.000000	0.71417	0.995000	0.50966	0.761000	0.43186	5.018000	0.64054	2.757000	0.94681	0.655000	0.94253	GAG	MRVI1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386137.2		-	ENST00000423302.2	Nonsense_Mutation	SNP	11 : 10597887 - 10597887 A PAAD-TCGA-IB-7649-Tumor-SM-2NW88	235	28
MYH6	4624	broad.mit.edu	37	14	23870014	23870014	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr14:23870014G>C	ENST00000356287.3	-	12	1343	c.1314C>G	c.(1312-1314)aaC>aaG	p.N438K	MYH6_ENST00000405093.3_Missense_Mutation_p.N438K			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	438	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCACCATCCAGTTGAACATCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	127	140			NA	NA	14		NA											NA				23870014		2203	4300	6503	SO:0001583	missense			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616	4624	4624		Myosins / Myosin superfamily : Class II	7576	protein-coding gene	gene with protein product	cardiomyopathy, hypertrophic 1	160710	myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)		NA	2144212	Standard		NM_002471	NA	Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1314C>G	14.37:g.23870014G>C	ENSP00000348634:p.Asn438Lys	NA	A2RTX1|Q13943|Q14906|Q14907	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	3.739	-0.053937	0.07362	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.86956	-2.19;-2.19	4.03	4.03	0.46877	Myosin head, motor domain (2);	.	.	.	.	T	0.71762	0.3378	N	0.02876	-0.465	0.38224	D	0.940852	B;B	0.30361	0.277;0.277	B;B	0.39339	0.297;0.297	T	0.69702	-0.5074	9	0.02654	T	1	.	12.1496	0.54042	0.0:0.3105:0.6895:0.0	.	438;438	D9YZU2;P13533	.;MYH6_HUMAN	K	438	ENSP00000386041:N438K;ENSP00000348634:N438K	ENSP00000348634:N438K	N	-	3	2	MYH6	22939854	0.001000	0.12720	1.000000	0.80357	0.995000	0.86356	-0.099000	0.11007	1.978000	0.57642	0.580000	0.79431	AAC	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071796.3		-	ENST00000356287.3	Missense_Mutation	SNP	14 : 23870014 - 23870014 C PAAD-TCGA-IB-7649-Tumor-SM-2NW88	620	39
NBEA	26960	broad.mit.edu	37	13	35883716	35883716	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr13:35883716A>G	ENST00000379939.2	+	35	6042	c.5881A>G	c.(5881-5883)Atc>Gtc	p.I1961V	NBEA_ENST00000540320.1_Missense_Mutation_p.I1964V|NBEA_ENST00000310336.4_Missense_Mutation_p.I1964V|NBEA_ENST00000400445.3_Missense_Mutation_p.I1964V			Q8NFP9	NBEA_HUMAN	neurobeachin	1964						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TATTGAGCTCATCAATGAAGG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	65	67			NA	NA	13		NA											NA				35883716		1873	4123	5996	SO:0001583	missense			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915	26960	26960		A-kinase anchor proteins, WD repeat domain containing	7648	protein-coding gene	gene with protein product		604889			NA	10501977	Standard	NM_015678	NM_015678	NA	Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000379939.2:c.5881A>G	13.37:g.35883716A>G	ENSP00000369271:p.Ile1961Val	NA	Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	37		.	.	.	.	.	.	.	.	.	.	A	6.507	0.461677	0.12342	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.46063	0.89;0.88;0.88;0.89	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	N	0.16130	0.375	0.80722	D	1	P;B	0.35612	0.512;0.008	B;B	0.24541	0.054;0.016	T	0.12863	-1.0531	10	0.05959	T	0.93	.	15.3088	0.74014	1.0:0.0:0.0:0.0	.	1964;1961	Q8NFP9;Q5T321	NBEA_HUMAN;.	V	1964;1964;1961;1964;591	ENSP00000440951:I1964V;ENSP00000383295:I1964V;ENSP00000369271:I1961V;ENSP00000308534:I1964V	ENSP00000308534:I1964V	I	+	1	0	NBEA	34781716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.730000	0.91510	2.029000	0.59856	0.533000	0.62120	ATC	NBEA-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000044460.1		+	ENST00000379939.2	Missense_Mutation	SNP	13 : 35883716 - 35883716 G PAAD-TCGA-IB-7649-Tumor-SM-2NW88	82	6
NFAT5	10725	broad.mit.edu	37	16	69689654	69689654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:69689654C>T	ENST00000354436.2	+	5	1412	c.1094C>T	c.(1093-1095)aCt>aTt	p.T365I	NFAT5_ENST00000393742.2_Missense_Mutation_p.T289I|NFAT5_ENST00000349945.1_Missense_Mutation_p.T289I|NFAT5_ENST00000567239.1_Missense_Mutation_p.T383I|NFAT5_ENST00000432919.1_Missense_Mutation_p.T383I|NFAT5_ENST00000566899.1_Missense_Mutation_p.T289I	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	365	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATTGAAGGCACTACTGTTATA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	123	127			NA	NA	16		NA											NA				69689654		2198	4300	6498	SO:0001583	missense			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908	10725	10725		Nuclear factor of activated T-cells	7774	protein-coding gene	gene with protein product		604708			NA	10377394	Standard	NM_138714	NM_173214	NA	Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1094C>T	16.37:g.69689654C>T	ENSP00000346420:p.Thr365Ile	NA	A6H8V5|O95693|Q9UN18	37	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087559	0.94100	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.58	5.58	0.84498	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.71779	0.3380	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74630	-0.3601	10	0.87932	D	0	-2.7308	19.5696	0.95406	0.0:1.0:0.0:0.0	.	383;365;383;289	A2RRB4;O94916;E9PHR7;O94916-2	.;NFAT5_HUMAN;.;.	I	383;383;289;365;289	ENSP00000396538:T383I;ENSP00000338806:T289I;ENSP00000346420:T365I;ENSP00000377343:T289I	ENSP00000338806:T289I	T	+	2	0	NFAT5	68247155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.768000	0.85345	2.638000	0.89438	0.467000	0.42956	ACT	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268952.2		+	ENST00000354436.2	Missense_Mutation	SNP	16 : 69689654 - 69689654 T PAAD-TCGA-IB-7649-Tumor-SM-2NW88	663	41
NLGN3	54413	broad.mit.edu	37	X	70367880	70367880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:70367880C>T	ENST00000374051.3	+	2	603	c.281C>T	c.(280-282)tCg>tTg	p.S94L	NLGN3_ENST00000536169.1_Missense_Mutation_p.S94L|NLGN3_ENST00000358741.3_Missense_Mutation_p.S94L	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	94					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCATCCTGGTCGGGCATCCGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(103;760 1488 16849 22250 40351)							NA				0													65	49	55			NA	NA	X		NA											NA				70367880		2203	4300	6503	SO:0001583	missense			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338	54413	54413			14289	protein-coding gene	gene with protein product		300336			NA	10767552, 10819331	Standard	NM_018977	NM_181303	NA	Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000374051.3:c.281C>T	X.37:g.70367880C>T	ENSP00000363163:p.Ser94Leu	NA	D3DVV0|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	37	CCDS14407.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609855	0.46527	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.58075	0.2097	M	0.70108	2.13	0.51767	D	0.999932	P;P;P	0.49358	0.546;0.923;0.756	B;B;B	0.40066	0.159;0.318;0.216	T	0.68720	-0.5334	10	0.66056	D	0.02	.	16.4169	0.83745	0.0:1.0:0.0:0.0	.	94;94;94	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	L	94	ENSP00000445298:S94L;ENSP00000363163:S94L;ENSP00000379196:S94L;ENSP00000351591:S94L	ENSP00000351591:S94L	S	+	2	0	NLGN3	70284605	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.320000	0.79064	2.044000	0.60594	0.436000	0.28706	TCG	NLGN3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057120.1		+	ENST00000374051.3	Missense_Mutation	SNP	X : 70367880 - 70367880 T PAAD-TCGA-IB-7649-Tumor-SM-2NW88	306	27
NLGN4X	57502	broad.mit.edu	37	X	5821413	5821413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:5821413G>A	ENST00000381095.3	-	5	1933	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	NLGN4X_ENST00000538097.1_Missense_Mutation_p.R436W|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R456W|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R436W|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R436W	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	436					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTTTTCCGCCGCGTCTCCGGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	20	20			NA	NA	X		NA											NA				5821413		2199	4292	6491	SO:0001583	missense			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938	57502	57502			14287	protein-coding gene	gene with protein product		300427	neuroligin 4	NLGN4	NA	10574462	Standard	NM_020742	XM_005274564	NA	Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1306C>T	X.37:g.5821413G>A	ENSP00000370485:p.Arg436Trp	NA	Q6UX10|Q9ULG0	37	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	8.908	0.958125	0.18507	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	3.93	3.05	0.35203	Carboxylesterase, type B (1);	.	.	.	.	T	0.71813	0.3384	M	0.70275	2.135	0.35192	D	0.773473	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.985;1.0;0.998	T	0.76849	-0.2807	8	.	.	.	.	11.0511	0.47889	0.0:0.0:0.6677:0.3323	.	493;436;456	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	W	436;456;436;436;436	ENSP00000370485:R436W;ENSP00000370483:R456W;ENSP00000275857:R436W;ENSP00000370482:R436W;ENSP00000439203:R436W	.	R	-	1	2	NLGN4X	5831413	0.988000	0.35896	0.002000	0.10522	0.003000	0.03518	2.082000	0.41605	0.507000	0.28148	-0.222000	0.12452	CGG	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055673.1		-	ENST00000381095.3	Missense_Mutation	SNP	X : 5821413 - 5821413 A PAAD-TCGA-IB-7649-Tumor-SM-2NW88	306	27
PCDHGA2	56113	broad.mit.edu	37	5	140720422	140720422	+	Silent	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:140720422G>A	ENST00000394576.2	+	1	1884	c.1884G>A	c.(1882-1884)acG>acA	p.T628T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1			protocadherin gamma subfamily A, 2	NA								p.T628T(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCACGGCGCGAGCCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	prostate(2)											35	42	40			NA	NA	5		NA											NA				140720422		2198	4289	6487	SO:0001819	synonymous_variant			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853	56113	56113		Cadherins / Protocadherins : Clustered	8700	other	protocadherin		606289			NA	10380929	Standard	NM_018915	NM_018915	NA	Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1884G>A	5.37:g.140720422G>A		NA		37	CCDS47289.1																																																																																			PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374738.1		+	ENST00000394576.2	Silent	SNP	5 : 140720422 - 140720422 A PAAD-TCGA-IB-7649-Tumor-SM-2NW88	568	25
PIK3R4	30849	broad.mit.edu	37	3	130452457	130452457	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:130452457T>A	ENST00000356763.3	-	4	1942	c.1385A>T	c.(1384-1386)tAc>tTc	p.Y462F		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	462					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGGCAGAATGTATTCCGGATA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	77	78			NA	NA	3		NA											NA				130452457		2203	4300	6503	SO:0001583	missense			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455	30849	30849		WD repeat domain containing	8982	protein-coding gene	gene with protein product		602610			NA	8999962	Standard	NM_014602	NM_014602	NA	Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1385A>T	3.37:g.130452457T>A	ENSP00000349205:p.Tyr462Phe	NA	Q2TBF4	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.042519	0.93685	.	.	ENSG00000196455	ENST00000356763	T	0.48836	0.8	6.07	6.07	0.98685	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72564	-0.4255	10	0.54805	T	0.06	-22.6507	16.6288	0.85011	0.0:0.0:0.0:1.0	.	462	Q99570	PI3R4_HUMAN	F	462	ENSP00000349205:Y462F	ENSP00000349205:Y462F	Y	-	2	0	PIK3R4	131935147	1.000000	0.71417	0.975000	0.42487	0.961000	0.63080	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	TAC	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356668.1		-	ENST00000356763.3	Missense_Mutation	SNP	3 : 130452457 - 130452457 A PAAD-TCGA-IB-7649-Tumor-SM-2NW88	650	87
RBM10	8241	broad.mit.edu	37	X	47038526	47038526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:47038526C>T	ENST00000377604.3	+	8	1430	c.688C>T	c.(688-690)Cga>Tga	p.R230*	RBM10_ENST00000345781.6_Nonsense_Mutation_p.R153*|RBM10_ENST00000329236.7_Nonsense_Mutation_p.R153*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	230					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CTTCAAACGCCGAGAGAAGTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(171;120 2705 19495 39241)							NA				0													87	62	71			NA	NA	X		NA											NA				47038526		2203	4300	6503	SO:0001587	stop_gained			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872	8241	8241		Zinc fingers, RAN-binding domain containing, G patch domain containing, RNA binding motif (RRM) containing	9896	protein-coding gene	gene with protein product		300080			NA	8590280, 8808293	Standard	NM_005676	NM_005676	NA	Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.688C>T	X.37:g.47038526C>T	ENSP00000366829:p.Arg230*	NA	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	37	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	C	40	8.367802	0.98779	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0	10.5381	0.45016	0.1929:0.8071:0.0:0.0	.	.	.	.	X	230;153;153	.	ENSP00000328848:R153X	R	+	1	2	RBM10	46923470	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	2.893000	0.48633	2.286000	0.76751	0.436000	0.28706	CGA	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056381.1		+	ENST00000377604.3	Nonsense_Mutation	SNP	X : 47038526 - 47038526 T PAAD-TCGA-IB-7649-Tumor-SM-2NW88	126	11
RPS11	6205	broad.mit.edu	37	19	50000840	50000840	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:50000840C>T	ENST00000270625.2	+	3	294	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	RPS11_ENST00000594493.1_5'UTR|RPS11_ENST00000596873.1_Missense_Mutation_p.R71W|RPS11_ENST00000599561.1_Missense_Mutation_p.A36V	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	71					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		CATTCGAGGGCGGATCCTCTC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	76	78			NA	NA	19		NA											NA				50000840		2203	4300	6503	SO:0001583	missense			AB007152	CCDS12769.1	19q13.3	2011-08-03			ENSG00000142534	ENSG00000142534	6205	6205		S ribosomal proteins	10384	protein-coding gene	gene with protein product	40S ribosomal protein S11	180471			NA	1577483, 9582194	Standard	NM_001015	NM_001015	NA	Approved	S11	uc002pob.2	P62280		ENST00000270625.2:c.211C>T	19.37:g.50000840C>T	ENSP00000270625:p.Arg71Trp	NA	B2R4F5|P04643|Q498Y6|Q6IRY0	37	CCDS12769.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701530	0.48307	.	.	ENSG00000142534	ENST00000270625	.	.	.	5.12	2.89	0.33648	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.059690	0.64402	N	0.000002	T	0.54498	0.1862	M	0.67517	2.055	0.58432	D	0.999999	B	0.16802	0.019	B	0.08055	0.003	T	0.50725	-0.8794	8	.	.	.	-23.5769	8.2881	0.31941	0.1534:0.7625:0.0:0.0842	.	71	P62280	RS11_HUMAN	W	71	.	.	R	+	1	2	RPS11	54692652	0.995000	0.38212	0.965000	0.40720	0.743000	0.42351	3.032000	0.49736	1.164000	0.42652	0.561000	0.74099	CGG	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465288.1		+	ENST00000270625.2	Missense_Mutation	SNP	19 : 50000840 - 50000840 T PAAD-TCGA-IB-7649-Tumor-SM-2NW88	654	78
SDCBP	6386	broad.mit.edu	37	8	59490601	59490601	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:59490601G>T	ENST00000523483.1	+	7	1986	c.472G>T	c.(472-474)Gtt>Ttt	p.V158F	SDCBP_ENST00000520168.1_Intron|SDCBP_ENST00000424270.2_Missense_Mutation_p.V132F|SDCBP_ENST00000422546.2_Missense_Mutation_p.V137F|SDCBP_ENST00000413219.2_Missense_Mutation_p.V138F|SDCBP_ENST00000447182.2_Missense_Mutation_p.V137F|SDCBP_ENST00000260130.4_Missense_Mutation_p.V138F|SDCBP_ENST00000447267.2_Missense_Mutation_p.V84F			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	138	PDZ 1.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GGGTATATTTGTTCAGCTAGT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	75	75			NA	NA	8		NA											NA				59490601		2203	4300	6503	SO:0001583	missense			AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575	6386	6386			10662	protein-coding gene	gene with protein product		602217			NA	9391086	Standard	NM_005625	NM_001007067	NA	Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000523483.1:c.472G>T	8.37:g.59490601G>T	ENSP00000428184:p.Val158Phe	NA	B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	37		.	.	.	.	.	.	.	.	.	.	G	23.6	4.433603	0.83776	.	.	ENSG00000137575	ENST00000260130;ENST00000422546;ENST00000447182;ENST00000413219;ENST00000424270;ENST00000523483;ENST00000447267	T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;0.27;0.74	5.66	4.79	0.61399	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	D	0.93239	0.7846	H	0.97340	3.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.995	D	0.95466	0.8547	9	.	.	.	-24.174	14.8863	0.70572	0.069:0.0:0.931:0.0	.	158;132;138	G5EA09;O00560-3;O00560	.;.;SDCB1_HUMAN	F	138;137;137;138;132;158;84	ENSP00000260130:V138F;ENSP00000391687:V137F;ENSP00000409288:V137F;ENSP00000411771:V138F;ENSP00000395351:V132F;ENSP00000428184:V158F;ENSP00000397820:V84F	.	V	+	1	0	SDCBP	59653155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.627000	0.67784	1.535000	0.49220	0.655000	0.94253	GTT	SDCBP-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000378197.1		+	ENST00000523483.1	Missense_Mutation	SNP	8 : 59490601 - 59490601 T PAAD-TCGA-IB-7649-Tumor-SM-2NW88	487	47
SHQ1	55164	broad.mit.edu	37	3	72893552	72893552	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:72893552C>T	ENST00000325599.8	-	2	305	c.166G>A	c.(166-168)Gta>Ata	p.V56I	SHQ1_ENST00000463369.1_Missense_Mutation_p.V28I	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	56	CS.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	p.V56L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CCATTTTCTACAATTCTTCCA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	prostate(1)											109	103	105			NA	NA	3		NA											NA				72893552		2203	4300	6503	SO:0001583	missense			BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736	55164	55164			25543	protein-coding gene	gene with protein product		613663	SHQ1 homolog (S. cerevisiae)		NA	12477932	Standard	NM_018130	NM_018130	NA	Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.166G>A	3.37:g.72893552C>T	ENSP00000315182:p.Val56Ile	NA	Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	37	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576734	0.45902	.	.	ENSG00000144736	ENST00000325599;ENST00000463369	T;T	0.35605	1.57;1.3	5.95	3.11	0.35812	CS-like domain (1);HSP20-like chaperone (1);	0.249859	0.39615	N	0.001319	T	0.24967	0.0606	L	0.52266	1.64	0.37946	D	0.932497	P	0.39391	0.671	B	0.32393	0.145	T	0.10520	-1.0626	10	0.34782	T	0.22	-8.7063	6.2311	0.20736	0.1324:0.6529:0.0:0.2147	.	56	Q6PI26	SHQ1_HUMAN	I	56;28	ENSP00000315182:V56I;ENSP00000417452:V28I	ENSP00000315182:V56I	V	-	1	0	SHQ1	72976242	1.000000	0.71417	0.994000	0.49952	0.729000	0.41735	1.181000	0.32017	0.849000	0.35215	0.655000	0.94253	GTA	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352310.1		-	ENST00000325599.8	Missense_Mutation	SNP	3 : 72893552 - 72893552 T PAAD-TCGA-IB-7649-Tumor-SM-2NW88	362	23
SLC29A3	55315	broad.mit.edu	37	10	73115969	73115969	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:73115969T>C	ENST00000373189.5	+	5	794	c.742T>C	c.(742-744)Tac>Cac	p.Y248H	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	248					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CATGGGACTCTACCTGCTGCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(200;1319 2142 18949 31248 39672)							NA				0													134	96	109			NA	NA	10		NA											NA				73115969		2203	4300	6503	SO:0001583	missense			AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246	55315	55315		Solute carriers	23096	protein-coding gene	gene with protein product		612373	solute carrier family 29 (nucleoside transporters), member 3		NA	11396612	Standard	NM_018344	NM_018344	NA	Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.742T>C	10.37:g.73115969T>C	ENSP00000362285:p.Tyr248His	NA	B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	37	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.986026	0.53934	.	.	ENSG00000198246	ENST00000373189	T	0.69040	-0.37	4.64	4.64	0.57946	.	0.079672	0.52532	D	0.000066	D	0.83271	0.5218	M	0.90922	3.16	0.46241	D	0.998940	P	0.52692	0.955	D	0.63283	0.913	D	0.89602	0.3835	9	0.87932	D	0	-16.1853	12.8084	0.57626	0.0:0.0:0.0:1.0	.	248	Q9BZD2	S29A3_HUMAN	H	248	ENSP00000362285:Y248H	ENSP00000362285:Y248H	Y	+	1	0	SLC29A3	72785975	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	7.100000	0.76989	1.961000	0.56991	0.460000	0.39030	TAC	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048544.1		+	ENST00000373189.5	Missense_Mutation	SNP	10 : 73115969 - 73115969 C PAAD-TCGA-IB-7649-Tumor-SM-2NW88	410	15
SPTBN2	6712	broad.mit.edu	37	11	66468444	66468444	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:66468444C>G	ENST00000533211.1	-	17	3457	c.3126G>C	c.(3124-3126)gaG>gaC	p.E1042D	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1042D|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1042D			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1042					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGGTCTGCACCTCTCTCAGCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	27	26			NA	NA	11		NA											NA				66468444		2196	4289	6485	SO:0001583	missense			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898	6712	6712		Pleckstrin homology (PH) domain containing	11276	protein-coding gene	gene with protein product		604985	spinocerebellar ataxia 5	SCA5	NA	9826670, 16429157	Standard	NM_006946	NM_006946	NA	Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3126G>C	11.37:g.66468444C>G	ENSP00000432568:p.Glu1042Asp	NA	O14872|O14873	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	9.744	1.165688	0.21538	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.35048	1.33;1.33;1.33	4.7	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.27832	0.0685	L	0.49350	1.555	0.44562	D	0.997521	B	0.18013	0.025	B	0.20384	0.029	T	0.11991	-1.0565	10	0.33940	T	0.23	.	4.1851	0.10393	0.1848:0.6269:0.0:0.1883	.	1042	O15020	SPTN2_HUMAN	D	1042	ENSP00000432568:E1042D;ENSP00000311489:E1042D;ENSP00000433593:E1042D	ENSP00000311489:E1042D	E	-	3	2	SPTBN2	66225020	0.922000	0.31269	0.995000	0.50966	0.397000	0.30659	0.092000	0.15066	1.212000	0.43366	-0.339000	0.08088	GAG	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393892.2		-	ENST00000533211.1	Missense_Mutation	SNP	11 : 66468444 - 66468444 G PAAD-TCGA-IB-7649-Tumor-SM-2NW88	345	52
SRCAP	10847	broad.mit.edu	37	16	30749733	30749733	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:30749733C>T	ENST00000262518.4	+	34	8757	c.8372C>T	c.(8371-8373)cCg>cTg	p.P2791L	SRCAP_ENST00000395059.2_Missense_Mutation_p.P2729L|SRCAP_ENST00000344771.4_Missense_Mutation_p.P2633L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2791	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.P2791L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCGGGAAGCCCGTCTGTCCGC	0.662		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)						C	LEU/PRO	1,4393	2.1+/-5.4	0,1,2196	55	62	60		8372	4.1	1	16		60	0,8600		0,0,4300	no	missense	SRCAP	NM_006662.2	98	0,1,6496	TT,TC,CC	NA	0.0,0.0228,0.0077	probably-damaging	2791/3231	30749733	1,12993	2197	4300	6497	SO:0001583	missense			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603	10847	10847			16974	protein-coding gene	gene with protein product	Swi2/Snf2-related ATPase homolog (S. cerevisiae), domino homolog 1 (Drosophila)	611421			NA	10347196, 9205841	Standard	NM_006662	NM_006662	NA	Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8372C>T	16.37:g.30749733C>T	ENSP00000262518:p.Pro2791Leu	NA	B0JZA6|O15026|Q7Z744|Q9Y5L9	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	1.783	-0.481343	0.04383	2.28E-4	0.0	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91295	-2.8;-2.82;-2.81	5.04	4.07	0.47477	.	0.266926	0.27122	N	0.020822	T	0.75087	0.3802	N	0.08118	0	0.34513	D	0.707273	P;P	0.39624	0.681;0.553	B;B	0.25140	0.058;0.026	T	0.81141	-0.1068	10	0.59425	D	0.04	-8.0891	8.3108	0.32071	0.1775:0.651:0.1714:0.0	.	2729;2791	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	L	2791;2729;2633	ENSP00000262518:P2791L;ENSP00000378499:P2729L;ENSP00000343042:P2633L	ENSP00000262518:P2791L	P	+	2	0	SRCAP	30657234	0.061000	0.20836	0.988000	0.46212	0.069000	0.16628	0.750000	0.26334	1.316000	0.45131	0.591000	0.81541	CCG	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255523.1		+	ENST00000262518.4	Missense_Mutation	SNP	16 : 30749733 - 30749733 T PAAD-TCGA-IB-7649-Tumor-SM-2NW88	573	25
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	T	rs68140816		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:7579311C>T	ENST00000420246.2	-	4	508		c.e4+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	NA					activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGCAACTGACCGTGCAAGTC	0.532		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	38	Unknown(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	lung(12)|breast(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|urinary_tract(1)|oesophagus(1)|pancreas(1)	GRCh37	CS951538	TP53	S							66	61	63			NA	NA	17		NA											NA				7579311		2203	4300	6503	SO:0001630	splice_region_variant	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.375+1G>A	17.37:g.7579311C>T		NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015182	0.75161	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6586	0.68852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520036	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.208000	0.72165	2.403000	0.81681	0.655000	0.94253	.	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1	Intron	-	ENST00000420246.2	Splice_Site	SNP	17 : 7579311 - 7579311 T PAAD-TCGA-IB-7649-Tumor-SM-2NW88	571	75
TTC19	54902	broad.mit.edu	37	17	15909860	15909860	+	Silent	SNP	A	A	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:15909860A>G	ENST00000261647.5	+	7	1123	c.654A>G	c.(652-654)gaA>gaG	p.E218E	TTC19_ENST00000486880.2_Silent_p.E339E|TTC19_ENST00000497842.2_3'UTR	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	218					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GAGAAAAGGAATTAGCAGAAG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	112	109			NA	NA	17		NA											NA				15909860		2203	4300	6503	SO:0001819	synonymous_variant			AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295	54902	54902		Tetratricopeptide (TTC) repeat domain containing	26006	protein-coding gene	gene with protein product		613814			NA		Standard	NM_017775	NM_017775	NA	Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.654A>G	17.37:g.15909860A>G		NA	A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	37	CCDS11174.2																																																																																			TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131725.6		+	ENST00000261647.5	Silent	SNP	17 : 15909860 - 15909860 G PAAD-TCGA-IB-7649-Tumor-SM-2NW88	540	80
TTLL3	26140	broad.mit.edu	37	3	9870862	9870862	+	Missense_Mutation	SNP	G	G	A	rs2290304	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:9870862G>A	ENST00000455274.1	+	4	2051	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	TTLL3_ENST00000426895.4_Missense_Mutation_p.R589Q|TTLL3_ENST00000547186.1_Missense_Mutation_p.R446Q|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.R507Q|TTLL3_ENST00000383827.1_Missense_Mutation_p.R234Q|TTLL3_ENST00000427853.3_Missense_Mutation_p.R234Q|TTLL3_ENST00000397241.1_Missense_Mutation_p.R234Q|TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000430793.1_Missense_Mutation_p.R234Q			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	446	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GTGCAGTGTCGGAAGGCCAGC	0.597		NA											G	19	0.01	NA	NA	2184	0.03	1	,	,	NA	3e-04	NA	NA	NA	0.0087	0.9977	LOWCOV	NA	NA	4e-04	SNP								NA				0								G	GLN/ARG,GLN/ARG	6,4400	11.4+/-27.6	0,6,2197	112	85	94		1766,1520	4.9	1	3	dbSNP_100	94	0,8600		0,0,4300	yes	missense,missense	TTLL3,ARPC4-TTLL3	NM_001025930.3,NM_001198793.1	43,43	0,6,6497	AA,AG,GG	NA	0.0,0.1362,0.0461	probably-damaging,probably-damaging	589/916,507/626	9870862	6,13000	2203	4300	6503	SO:0001583	missense				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021	26140	26140		Tubulin tyrosine ligase-like family	24483	protein-coding gene	gene with protein product					NA	11054573	Standard	NM_001025930.2	NR_037162	NA	Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000455274.1:c.701G>A	3.37:g.9870862G>A	ENSP00000409632:p.Arg234Gln	NA	Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	37		19	0.0086996336996337	0	0.0	0	0.0	19	0.033216783216783216	0	0.0	G	36	5.699348	0.96802	0.001362	0.0	ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021	ENST00000397256;ENST00000426895;ENST00000547186;ENST00000397241;ENST00000427853;ENST00000443148;ENST00000383827;ENST00000455274;ENST00000430793	T;T;T;T;T;T;T;T;T	0.05649	3.41;3.41;3.41;3.41;3.41;3.41;3.41;3.41;3.41	4.93	4.93	0.64822	.	0.000000	0.64402	U	0.000001	T	0.09379	0.0231	M	0.69523	2.12	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.997;0.965;0.994;0.999;0.998	T	0.00164	-1.1968	10	0.56958	D	0.05	.	17.7748	0.88504	0.0:0.0:1.0:0.0	rs2290304	385;234;234;446;507;234	B4DM47;Q9Y4R7-2;Q9Y4R7-5;Q9Y4R7;E7ETI0;C9JSD3	.;.;.;TTLL3_HUMAN;.;.	Q	507;589;446;234;234;384;234;234;234	ENSP00000380427:R507Q;ENSP00000392549:R589Q;ENSP00000446659:R446Q;ENSP00000380416:R234Q;ENSP00000394462:R234Q;ENSP00000398097:R384Q;ENSP00000373338:R234Q;ENSP00000409632:R234Q;ENSP00000403874:R234Q	ENSP00000380416:R234Q	R	+	2	0	ARPC4-TTLL3;TTLL3	9845862	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	5.443000	0.66581	2.285000	0.76669	0.563000	0.77884	CGG	TTLL3-016	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000308977.2		+	ENST00000455274.1	Missense_Mutation	SNP	3 : 9870862 - 9870862 A PAAD-TCGA-IB-7649-Tumor-SM-2NW88	336	36
TTN	7273	broad.mit.edu	37	2	179429212	179429212	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:179429212C>T	ENST00000589042.1	-	326	81871	c.81647G>A	c.(81646-81648)cGc>cAc	p.R27216H	TTN_ENST00000342992.6_Missense_Mutation_p.R24648H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R18151H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R18276H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R18343H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R25575H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25575	Fibronectin type-III 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCATCCAGCGGCCATCAGG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,3726		0,0,1863	70	66	67		54452,73943,54827,55028	6.2	1	2		67	1,8211		0,1,4105	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,1,5968	TT,TC,CC	NA	0.0122,0.0,0.0084	probably-damaging,probably-damaging,probably-damaging,probably-damaging	18151/26927,24648/33424,18276/27052,18343/27119	179429212	1,11937	1863	4106	5969	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.81647G>A	2.37:g.179429212C>T	ENSP00000467141:p.Arg27216His	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992185	0.54041	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73768	0.3629	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.73209	-0.4055	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	18151;18276;18343;25575	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	24648;18151;18343;18276;18149	ENSP00000343764:R24648H;ENSP00000434586:R18151H;ENSP00000340554:R18343H;ENSP00000352154:R18276H	ENSP00000340554:R18343H	R	-	2	0	TTN	179137458	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.770000	0.85390	2.937000	0.99478	0.650000	0.86243	CGC	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179429212 - 179429212 T PAAD-TCGA-IB-7649-Tumor-SM-2NW88	169	12
WDR91	29062	broad.mit.edu	37	7	134879811	134879811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr7:134879811C>T	ENST00000423565.1	-	9	1213	c.1165G>A	c.(1165-1167)Gcc>Acc	p.A389T	WDR91_ENST00000344400.5_Missense_Mutation_p.A424T|WDR91_ENST00000354475.4_Missense_Mutation_p.A424T			A4D1P6	WDR91_HUMAN	WD repeat domain 91	424										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TCTAAGCTGGCGACTCTCCTC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	79	88			NA	NA	7		NA											NA				134879811		2203	4300	6503	SO:0001583	missense			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875	29062	29062		WD repeat domain containing	24997	protein-coding gene	gene with protein product					NA	11042152, 11230166	Standard	NM_014149	NM_014149	NA	Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000423565.1:c.1165G>A	7.37:g.134879811C>T	ENSP00000392555:p.Ala389Thr	NA	A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	37		.	.	.	.	.	.	.	.	.	.	C	29.4	5.005501	0.93287	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	T;T;T	0.38240	1.15;4.49;4.49	5.28	5.28	0.74379	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66528	0.2798	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.72766	-0.4194	10	0.66056	D	0.02	-21.2761	18.5117	0.90918	0.0:1.0:0.0:0.0	.	424	A4D1P6	WDR91_HUMAN	T	424;424;389	ENSP00000340877:A424T;ENSP00000346466:A424T;ENSP00000392555:A389T	ENSP00000340877:A424T	A	-	1	0	WDR91	134530351	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.737000	0.68606	2.470000	0.83445	0.555000	0.69702	GCC	WDR91-002	NOVEL	non_canonical_U12|not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000340020.2		-	ENST00000423565.1	Missense_Mutation	SNP	7 : 134879811 - 134879811 T PAAD-TCGA-IB-7649-Tumor-SM-2NW88	155	6
ZC3H12B	340554	broad.mit.edu	37	X	64719038	64719038	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:64719038A>T	ENST00000338957.4	+	3	975	c.908A>T	c.(907-909)gAc>gTc	p.D303V	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.D292V	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	292							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACTACCGAGACCTTCAAGTT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	93	96			NA	NA	X		NA											NA				64719038		1886	4099	5985	SO:0001583	missense			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053	340554	340554		Zinc fingers, CCCH-type domain containing	17407	protein-coding gene	gene with protein product	MCP induced protein 2	300889	chromosome X open reading frame 32	CXorf32	NA	18178554	Standard	XM_293334	NM_001010888	NA	Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.908A>T	X.37:g.64719038A>T	ENSP00000340839:p.Asp303Val	NA	B2RTQ3|Q5H9C0	37	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147401	0.77888	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.60171	0.21;0.21	5.19	5.19	0.71726	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87653	0.2529	10	0.72032	D	0.01	-0.502	12.9175	0.58214	1.0:0.0:0.0:0.0	.	292	Q5HYM0	ZC12B_HUMAN	V	303;292;239	ENSP00000340839:D303V;ENSP00000408077:D292V	ENSP00000218172:D239V	D	+	2	0	ZC3H12B	64635763	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.237000	0.95368	1.731000	0.51592	0.417000	0.27973	GAC	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378734.2		+	ENST00000338957.4	Missense_Mutation	SNP	X : 64719038 - 64719038 T PAAD-TCGA-IB-7649-Tumor-SM-2NW88	541	50
ZNF653	115950	broad.mit.edu	37	19	11596575	11596575	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:11596575T>C	ENST00000293771.5	-	7	1602	c.1466A>G	c.(1465-1467)aAt>aGt	p.N489S	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						ATGCACAAGATTGACGTGGTT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(83;980 1446 4542 6441 43352)							NA				0													199	169	179			NA	NA	19		NA											NA				11596575		2203	4300	6503	SO:0001583	missense			AY072704	CCDS12261.1	19p13.2	2013-01-08					115950	115950		Zinc fingers, C2H2-type	25196	protein-coding gene	gene with protein product		611371			NA	12477932	Standard	NM_138783	NM_138783	NA	Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1466A>G	19.37:g.11596575T>C	ENSP00000293771:p.Asn489Ser	NA	Q96AS7	37	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.348165	0.82132	.	.	ENSG00000161914	ENST00000293771	T	0.27557	1.66	5.26	5.26	0.73747	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	L	0.59436	1.845	0.58432	D	0.999997	D	0.69078	0.997	D	0.75020	0.985	T	0.53457	-0.8436	10	0.72032	D	0.01	-65.4624	14.4764	0.67548	0.0:0.0:0.0:1.0	.	489	Q96CK0	ZN653_HUMAN	S	489	ENSP00000293771:N489S	ENSP00000293771:N489S	N	-	2	0	ZNF653	11457575	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.257000	0.78362	2.135000	0.66039	0.459000	0.35465	AAT	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458836.2		-	ENST00000293771.5	Missense_Mutation	SNP	19 : 11596575 - 11596575 C PAAD-TCGA-IB-7649-Tumor-SM-2NW88	729	73
ZNRF4	148066	broad.mit.edu	37	19	5455852	5455852	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:5455852C>T	ENST00000222033.4	+	1	427	c.350C>T	c.(349-351)cCg>cTg	p.P117L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	117						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCGGATCTGCCGGCGCTGTTC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	58	55			NA	NA	19		NA											NA				5455852		2101	4206	6307	SO:0001583	missense			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428	148066	148066		RING-type (C3HC4) zinc fingers	17726	protein-coding gene	gene with protein product		612063			NA		Standard	NM_181710	NM_181710	NA	Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.350C>T	19.37:g.5455852C>T	ENSP00000222033:p.Pro117Leu	NA	A8K886|O75866	37	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346448	0.41599	.	.	ENSG00000105428	ENST00000222033	T	0.05996	3.36	4.55	4.55	0.56014	.	0.000000	0.85682	U	0.000000	T	0.25680	0.0625	M	0.81682	2.555	0.52099	D	0.999943	D	0.89917	1.0	D	0.72625	0.978	T	0.02059	-1.1221	10	0.87932	D	0	.	13.9999	0.64427	0.0:1.0:0.0:0.0	.	117	Q8WWF5	ZNRF4_HUMAN	L	117	ENSP00000222033:P117L	ENSP00000222033:P117L	P	+	2	0	ZNRF4	5406852	0.939000	0.31865	0.297000	0.24988	0.033000	0.12548	4.439000	0.59968	2.082000	0.62665	0.491000	0.48974	CCG	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450924.1		+	ENST00000222033.4	Missense_Mutation	SNP	19 : 5455852 - 5455852 T PAAD-TCGA-IB-7649-Tumor-SM-2NW88	553	20
