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
ADCY5	111	broad.mit.edu	37	3	123046467	123046467	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:123046467G>A	ENST00000491190.1	-	8	1381	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	ADCY5_ENST00000462833.1_Missense_Mutation_p.R649W|ADCY5_ENST00000309879.5_Missense_Mutation_p.R299W			O95622	ADCY5_HUMAN	adenylate cyclase 5	649					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCACAGACCCGCTTCTGGGTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	37	37			NA	NA	3		NA											NA				123046467		2203	4300	6503	SO:0001583	missense			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	111	111	4.6.1.1	Adenylate cyclases	236	protein-coding gene	gene with protein product		600293			NA	10481931	Standard	XM_171048	NM_183357	NA	Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000491190.1:c.844C>T	3.37:g.123046467G>A	ENSP00000418537:p.Arg282Trp	NA	Q7RTV7|Q8NFM3	37		.	.	.	.	.	.	.	.	.	.	G	20.5	3.998117	0.74818	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;D;D;T	0.82526	-1.23;-1.62;-1.6;-1.49	5.2	4.27	0.50696	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.64402	D	0.000003	D	0.89434	0.6714	M	0.79123	2.44	0.80722	D	1	P;D	0.76494	0.837;0.999	B;P	0.61275	0.326;0.886	D	0.90581	0.4529	10	0.66056	D	0.02	.	15.0194	0.71617	0.0:0.0:0.7655:0.2345	.	649;282	O95622;B3KWA8	ADCY5_HUMAN;.	W	649;282;299;208	ENSP00000419361:R649W;ENSP00000418537:R282W;ENSP00000308685:R299W;ENSP00000420082:R208W	ENSP00000308685:R299W	R	-	1	2	ADCY5	124529157	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	1.013000	0.29937	2.578000	0.87016	0.655000	0.94253	CGG	ADCY5-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000355890.1		-	ENST00000491190.1	Missense_Mutation	SNP	3 : 123046467 - 123046467 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	121	54
ALB	213	broad.mit.edu	37	4	74275113	74275113	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr4:74275113C>T	ENST00000503124.1	+	3	281	c.74C>T	c.(73-75)gCc>gTc	p.A25V	ALB_ENST00000401494.3_Missense_Mutation_p.A60V|ALB_ENST00000295897.4_Missense_Mutation_p.A175V|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.A175V|ALB_ENST00000415165.2_Intron			P02768	ALBU_HUMAN	albumin	175	Albumin 1.		D -> V (in Bleinheim/Iowa city-2).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TACTTTTATGCCCCGGAACTC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	74	72			NA	NA	4		NA											NA				74275113		2203	4299	6502	SO:0001583	missense			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631	213	213			399	protein-coding gene	gene with protein product		103600			NA	6292049, 6192711	Standard	NM_000477	NM_000477	NA	Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.74C>T	4.37:g.74275113C>T	ENSP00000421027:p.Ala25Val	NA	O95574|P04277|Q13140|Q645G4|Q68DN5|Q6UXK4|Q86YG0|Q9P157|Q9P1I7|Q9UHS3|Q9UJZ0	37		.	.	.	.	.	.	.	.	.	.	C	14.99	2.699939	0.48307	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.55	-0.616	0.11583	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.472937	0.21303	N	0.076761	T	0.82061	0.4955	M	0.68593	2.085	0.37386	D	0.912251	D;P;B;P	0.71674	0.998;0.914;0.39;0.726	D;B;B;B	0.67103	0.949;0.146;0.049;0.075	D	0.85061	0.0934	10	0.72032	D	0.01	-5.329	21.3573	0.99952	0.0:0.3196:0.6804:0.0	.	60;25;175;175	B7WNR0;D6RHD5;A6NBZ8;P02768	.;.;.;ALBU_HUMAN	V	177;175;25;175;60;184	ENSP00000392541:A177V;ENSP00000295897:A175V;ENSP00000421027:A25V;ENSP00000422784:A175V;ENSP00000384695:A60V	ENSP00000295897:A175V	A	+	2	0	ALB	74493977	0.924000	0.31332	0.958000	0.39756	0.913000	0.54294	0.021000	0.13489	-0.357000	0.08175	-0.282000	0.10007	GCC	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000365419.1		+	ENST00000503124.1	Missense_Mutation	SNP	4 : 74275113 - 74275113 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	529	5
ALDH1L2	160428	broad.mit.edu	37	12	105464556	105464556	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:105464556G>A	ENST00000258494.9	-	3	360	c.220C>T	c.(220-222)Cct>Tct	p.P74S	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P74S	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	74	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TTGAACACAGGGGTCCCATCT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	110	116			NA	NA	12		NA											NA				105464556		2203	4300	6503	SO:0001583	missense			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	160428	160428	1.5.1.6	Aldehyde dehydrogenases	26777	protein-coding gene	gene with protein product	mitochondrial 10-formyltetrahydrofolate dehydrogenase	613584			NA	20498374	Standard	XM_090294	NM_001034173	NA	Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.220C>T	12.37:g.105464556G>A	ENSP00000258494:p.Pro74Ser	NA	Q3SY68|Q68D62|Q6AI55|Q8N922	37	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	G	31	5.066278	0.93898	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.80738	-1.41;-1.41	5.48	5.48	0.80851	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91375	0.7279	M	0.89287	3.02	0.80722	D	1	D	0.63046	0.992	D	0.67900	0.954	D	0.92391	0.5921	10	0.87932	D	0	.	19.7157	0.96119	0.0:0.0:1.0:0.0	.	74	Q3SY69	AL1L2_HUMAN	S	74	ENSP00000258494:P74S;ENSP00000389608:P74S	ENSP00000258494:P74S	P	-	1	0	ALDH1L2	103988686	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.782000	0.85680	2.749000	0.94314	0.655000	0.94253	CCT	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406098.1		-	ENST00000258494.9	Missense_Mutation	SNP	12 : 105464556 - 105464556 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	364	136
ALMS1	7840	broad.mit.edu	37	2	73646378	73646378	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:73646378G>A	ENST00000264448.6	+	3	689	c.578G>A	c.(577-579)gGc>gAc	p.G193D	ALMS1_ENST00000377715.1_Missense_Mutation_p.G193D|ALMS1_ENST00000409009.1_Missense_Mutation_p.G151D	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	193					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGGAGGAGGGCATATTGACG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	132	134			NA	NA	2		NA											NA				73646378		1848	4097	5945	SO:0001583	missense			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127	7840	7840			428	protein-coding gene	gene with protein product		606844			NA	9063741	Standard	NM_015120	NM_015120	NA	Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.578G>A	2.37:g.73646378G>A	ENSP00000264448:p.Gly193Asp	NA	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	8.436	0.849757	0.17034	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.42513	2.07;1.81;0.97	4.51	2.69	0.31865	.	0.196490	0.25372	N	0.031150	T	0.30978	0.0782	L	0.36672	1.1	0.20703	N	0.999867	B;B	0.27498	0.18;0.18	B;B	0.31442	0.13;0.13	T	0.28522	-1.0041	10	0.87932	D	0	.	5.4853	0.16747	0.1022:0.0:0.7002:0.1976	.	151;193	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	D	151;193;193	ENSP00000386627:G151D;ENSP00000264448:G193D;ENSP00000366944:G193D	ENSP00000264448:G193D	G	+	2	0	ALMS1	73499886	0.941000	0.31946	0.353000	0.25747	0.203000	0.24098	1.499000	0.35671	0.623000	0.30267	0.655000	0.94253	GGC	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327776.1		+	ENST00000264448.6	Missense_Mutation	SNP	2 : 73646378 - 73646378 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	671	6
ARHGEF11	9826	broad.mit.edu	37	1	156926239	156926239	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:156926239C>T	ENST00000368194.3	-	19	2683	c.1644G>A	c.(1642-1644)tgG>tgA	p.W548*	ARHGEF11_ENST00000361409.2_Nonsense_Mutation_p.W508*	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	508					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGAACGGTAGCCACTTGTCCT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	153	159			NA	NA	1		NA											NA				156926239		2203	4300	6503	SO:0001587	stop_gained			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694	9826	9826		Rho guanine nucleotide exchange factors	14580	protein-coding gene	gene with protein product		605708			NA	10526156, 9205841	Standard	NM_198236	NM_014784	NA	Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000368194.3:c.1644G>A	1.37:g.156926239C>T	ENSP00000357177:p.Trp548*	NA	D3DVD0|Q5VY40	37	CCDS1163.1	.	.	.	.	.	.	.	.	.	.	C	45	11.401996	0.99556	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	.	.	.	4.82	4.82	0.62117	.	0.131135	0.35739	N	0.003012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-11.8078	17.6896	0.88266	0.0:1.0:0.0:0.0	.	.	.	.	X	548;508	.	ENSP00000354644:W508X	W	-	3	0	ARHGEF11	155192863	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.463000	0.66712	2.502000	0.84385	0.585000	0.79938	TGG	ARHGEF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098930.1		-	ENST00000368194.3	Nonsense_Mutation	SNP	1 : 156926239 - 156926239 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	623	15
ARID1A	8289	broad.mit.edu	37	1	27101098	27101098	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:27101098C>T	ENST00000457599.2	+	18	4101				ARID1A_ENST00000324856.7_Silent_p.G1460G|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Silent_p.G1077G	NM_139135.2	NP_624361.1	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	NA					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCAGTTTGGCCGAGACCGTG	0.582		NA	Mis, N, F, S, D		clear cell ovarian carcinoma, RCC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													69	73	71			NA	NA	1		NA											NA				27101098		2203	4300	6503	SO:0001627	intron_variant			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713	8289	8289		-	11110	protein-coding gene	gene with protein product		603024	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1, AT rich interactive domain 1A (SWI- like)	C1orf4, SMARCF1	NA	9630625, 9434167	Standard	NM_139135	NM_139135	NA	Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000457599.2:c.4102-373C>T	1.37:g.27101098C>T		NA	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	37	CCDS44091.1	.	.	.	.	.	.	.	.	.	.	C	6.392	0.440456	0.12104	.	.	ENSG00000117713	ENST00000430799	.	.	.	5.54	4.62	0.57501	.	.	.	.	.	T	0.62998	0.2474	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61720	-0.7005	4	.	.	.	-10.3623	11.4825	0.50333	0.1412:0.7231:0.1357:0.0	.	.	.	.	S	357	.	.	P	+	1	0	ARID1A	26973685	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.537000	0.36083	1.558000	0.49541	0.650000	0.86243	CCG	ARID1A-002	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011438.2		+	ENST00000457599.2	Intron	SNP	1 : 27101098 - 27101098 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	350	5
ASH1L	55870	broad.mit.edu	37	1	155408246	155408246	+	Silent	SNP	A	A	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155408246A>G	ENST00000368346.3	-	5	6339	c.5700T>C	c.(5698-5700)gtT>gtC	p.V1900V	ASH1L_ENST00000392403.3_Silent_p.V1900V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1900					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CACTCTGAACAACAGCCTCAA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	108	112			NA	NA	1		NA											NA				155408246		2203	4300	6503	SO:0001819	synonymous_variant			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539	55870	55870		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	19088	protein-coding gene	gene with protein product		607999			NA	10860993, 16545939	Standard	NM_018489	NM_018489	NA	Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5700T>C	1.37:g.155408246A>G		NA	Q59GP1|Q5T714|Q5T715|Q9P2C7	37																																																																																				ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000039400.1		-	ENST00000368346.3	Silent	SNP	1 : 155408246 - 155408246 G PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	399	112
ATP10A	57194	broad.mit.edu	37	15	25947218	25947218	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:25947218C>G	ENST00000356865.6	-	13	2716	c.2605G>C	c.(2605-2607)Gac>Cac	p.D869H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	869					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGGACTCCGTCCTGCAGGCGG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	92	93			NA	NA	15		NA											NA				25947218		2203	4300	6503	SO:0001583	missense			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190	57194	57194		ATPases / P-type	13542	protein-coding gene	gene with protein product		605855	ATPase, Class V, type 10C, ATPase, Class V, type 10A	ATP10C	NA	11015572, 9628581	Standard	NM_024490	NM_024490	NA	Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2605G>C	15.37:g.25947218C>G	ENSP00000349325:p.Asp869His	NA	Q969I4	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783540	0.90282	.	.	ENSG00000206190	ENST00000356865	T	0.68025	-0.3	5.31	5.31	0.75309	HAD-like domain (2);	0.273464	0.45867	D	0.000325	D	0.83422	0.5251	M	0.85197	2.74	0.80722	D	1	D	0.61080	0.989	D	0.64877	0.93	D	0.86242	0.1644	10	0.87932	D	0	-8.5174	18.9799	0.92751	0.0:1.0:0.0:0.0	.	869	O60312	AT10A_HUMAN	H	869	ENSP00000349325:D869H	ENSP00000349325:D869H	D	-	1	0	ATP10A	23498311	1.000000	0.71417	0.995000	0.50966	0.898000	0.52572	7.561000	0.82288	2.485000	0.83878	0.561000	0.74099	GAC	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414830.1		-	ENST00000356865.6	Missense_Mutation	SNP	15 : 25947218 - 25947218 G PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	437	20
ATP12A	479	broad.mit.edu	37	13	25255720	25255720	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:25255720C>T	ENST00000381946.3	+	2	197	c.30C>T	c.(28-30)tcC>tcT	p.S10S	ATP12A_ENST00000218548.6_Silent_p.S10S			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	10					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAATTTACTCCGTGGAGCTCA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(156;1582 1935 18898 22665 26498)							NA				0													60	63	62			NA	NA	13		NA											NA				25255720		2203	4300	6503	SO:0001819	synonymous_variant			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	479	479	3.6.3.10	ATPases / P-type	13816	protein-coding gene	gene with protein product	ATPase, Na+K+ transporting, alpha-1 polypeptide-like, potassium-transporting ATPase alpha chain 2, proton pump, non-gastric H(+)/K(+) ATPase alpha subunit, sodium/potassium ATPase, alpha polypeptide-like	182360	ATPase, Na+/K+ transporting, alpha polypeptide-like 1	ATP1AL1	NA	8838794, 2842249	Standard	NM_001676	NM_001676	NA	Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.30C>T	13.37:g.25255720C>T		NA	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	37	CCDS31948.1																																																																																			ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044199.1		+	ENST00000381946.3	Silent	SNP	13 : 25255720 - 25255720 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	392	104
BAI1	575	broad.mit.edu	37	8	143569790	143569790	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr8:143569790C>T	ENST00000517894.1	+	14	3268	c.2374C>T	c.(2374-2376)Cgg>Tgg	p.R792W	BAI1_ENST00000323289.5_Missense_Mutation_p.R792W			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	792					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAAGGGCTGGCGGGCCACGGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	78	75			NA	NA	8		NA											NA				143569790		2039	4190	6229	SO:0001583	missense			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790	575	575		-, GPCR / Class B : Orphans	943	protein-coding gene	gene with protein product		602682			NA	9533023	Standard	NM_001702	NM_001702	NA	Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2374C>T	8.37:g.143569790C>T	ENSP00000430945:p.Arg792Trp	NA		37		.	.	.	.	.	.	.	.	.	.	C	17.56	3.419482	0.62622	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.28666	1.6;1.6	4.65	1.7	0.24286	.	0.070341	0.53938	U	0.000049	T	0.44767	0.1309	L	0.61218	1.895	0.50632	D	0.999889	D	0.89917	1.0	D	0.65987	0.94	T	0.28839	-1.0031	10	0.87932	D	0	.	7.1912	0.25826	0.5489:0.3668:0.0:0.0842	.	792	E9PBK0	.	W	792	ENSP00000430945:R792W;ENSP00000313046:R792W	ENSP00000313046:R792W	R	+	1	2	BAI1	143566792	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	0.764000	0.26532	0.107000	0.17824	0.313000	0.20887	CGG	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000379963.3		+	ENST00000517894.1	Missense_Mutation	SNP	8 : 143569790 - 143569790 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	465	6
BCL11A	53335	broad.mit.edu	37	2	60688454	60688454	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:60688454G>A	ENST00000335712.6	-	4	1820	c.1593C>T	c.(1591-1593)ggC>ggT	p.G531G	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Silent_p.G531G|BCL11A_ENST00000538214.1_Silent_p.G497G|BCL11A_ENST00000537768.1_Silent_p.G200G|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.G497G	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	531					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCACGACCGCGCCCCGCGAGC	0.697		NA	T	IGH@	B-CLL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0													9	10	10			NA	NA	2		NA											NA				60688454		2182	4231	6413	SO:0001819	synonymous_variant			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866	53335	53335		Zinc fingers, C2H2-type	13221	protein-coding gene	gene with protein product		606557	ecotropic viral integration site 9	EVI9	NA	11719382, 18245381	Standard	NM_022893	NM_018014	NA	Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1593C>T	2.37:g.60688454G>A		NA	D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	37	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	1.532	-0.544002	0.04024	.	.	ENSG00000119866	ENST00000378117	.	.	.	4.08	3.2	0.36748	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5491	0.27786	0.1139:0.0:0.8861:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BCL11A	60541958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.605000	0.24179	1.307000	0.44944	0.650000	0.86243	.	BCL11A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251579.2		-	ENST00000335712.6	Silent	SNP	2 : 60688454 - 60688454 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	81	5
BTN2A2	10385	broad.mit.edu	37	6	26390289	26390289	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:26390289G>A	ENST00000432533.2	+	4	585	c.499G>A	c.(499-501)Gca>Aca	p.A167T	BTN2A2_ENST00000352867.2_Missense_Mutation_p.A145T|BTN2A2_ENST00000469230.1_Missense_Mutation_p.A261T|BTN2A2_ENST00000416795.2_Missense_Mutation_p.A261T|BTN2A2_ENST00000356709.4_Missense_Mutation_p.A261T|BTN2A2_ENST00000482536.1_Missense_Mutation_p.A51T			Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	261	Ig-like C2-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CATCCTGACCGCATCTCCCTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	146	149			NA	NA	6		NA											NA				26390289		2203	4300	6503	SO:0001583	missense			U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508	10385	10385		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins	1137	protein-coding gene	gene with protein product		613591			NA	10354554, 9149941	Standard		NM_006995	NA	Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000432533.2:c.499G>A	6.37:g.26390289G>A	ENSP00000394241:p.Ala167Thr	NA	O00480	37	CCDS56402.1	.	.	.	.	.	.	.	.	.	.	.	4.517	0.095872	0.08681	.	.	ENSG00000124508	ENST00000469230;ENST00000490025;ENST00000356709;ENST00000352867;ENST00000482536;ENST00000432533;ENST00000482842;ENST00000416795;ENST00000483410	T;T;T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94	2.38	-4.76	0.03229	.	.	.	.	.	T	0.01870	0.0059	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B;B;B	0.25007	0.0;0.0;0.116;0.105;0.003;0.0;0.0	B;B;B;B;B;B;B	0.17433	0.0;0.0;0.015;0.018;0.001;0.0;0.0	T	0.40384	-0.9566	9	0.46703	T	0.11	.	5.0603	0.14553	0.248:0.0:0.4881:0.2639	.	51;51;167;145;261;145;261	B4DE97;E9PH07;B4DQ01;B4E3J1;Q8WVV5-2;A6NM84;Q8WVV5	.;.;.;.;.;.;BT2A2_HUMAN	T	261;56;261;145;51;167;56;261;145	ENSP00000417472:A261T;ENSP00000418965:A56T;ENSP00000349143:A261T;ENSP00000337117:A145T;ENSP00000419451:A51T;ENSP00000394241:A167T;ENSP00000417676:A56T;ENSP00000399308:A261T;ENSP00000418176:A145T	ENSP00000337117:A145T	A	+	1	0	BTN2A2	26498268	0.006000	0.16342	0.000000	0.03702	0.059000	0.15707	-0.039000	0.12124	-2.050000	0.00905	-0.600000	0.04104	GCA	BTN2A2-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353988.1		+	ENST00000432533.2	Missense_Mutation	SNP	6 : 26390289 - 26390289 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	509	5
C9	735	broad.mit.edu	37	5	39331865	39331865	+	Missense_Mutation	SNP	G	G	C			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:39331865G>C	ENST00000263408.4	-	5	623	c.528C>G	c.(526-528)ttC>ttG	p.F176L	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	176	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GTCCATTGTAGAACTCATTGT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	194	196			NA	NA	5		NA											NA				39331865		2203	4300	6503	SO:0001583	missense				CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600	735	735		Complement system	1358	protein-coding gene	gene with protein product		120940			NA		Standard		NM_001737	NA	Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.528C>G	5.37:g.39331865G>C	ENSP00000263408:p.Phe176Leu	NA		37	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205577	0.58234	.	.	ENSG00000113600	ENST00000263408	T	0.33438	1.41	5.72	4.74	0.60224	Membrane attack complex component/perforin (MACPF) domain (1);	0.573755	0.19914	N	0.103230	T	0.22551	0.0544	L	0.45581	1.43	0.41407	D	0.987719	P	0.42456	0.78	B	0.38106	0.265	T	0.02909	-1.1095	10	0.37606	T	0.19	-8.041	4.5426	0.12066	0.2863:0.0:0.7137:0.0	.	176	P02748	CO9_HUMAN	L	176	ENSP00000263408:F176L	ENSP00000263408:F176L	F	-	3	2	C9	39367622	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.003000	0.49505	2.709000	0.92574	0.561000	0.74099	TTC	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211576.3		-	ENST00000263408.4	Missense_Mutation	SNP	5 : 39331865 - 39331865 C PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	642	40
CD164	8763	broad.mit.edu	37	6	109690132	109690132	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:109690132C>T	ENST00000310786.4	-	6	581	c.516G>A	c.(514-516)ctG>ctA	p.L172L	CD164_ENST00000504373.1_Silent_p.L138L|CD164_ENST00000275080.7_Silent_p.L159L|CD164_ENST00000368961.5_Silent_p.L140L|CD164_ENST00000413644.2_Silent_p.L172L|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000512821.1_Intron|CD164_ENST00000324953.5_Silent_p.L153L	NM_001142404.1|NM_006016.4	NP_001135876.1|NP_006007.2	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	172					hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding			breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		CACCCAAGACCAGGACAATTC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	94	97			NA	NA	6		NA											NA				109690132		2203	4300	6503	SO:0001819	synonymous_variant			AF106518	CCDS5073.1, CCDS47462.1, CCDS47463.1, CCDS47464.1, CCDS47465.1	6q21	2014-09-05	2006-03-28		ENSG00000135535	ENSG00000135535	8763	8763		CD molecules	1632	protein-coding gene	gene with protein product		603356	CD164 antigen, sialomucin		NA	9680353, 9763543	Standard	NM_006016	NM_006016	NA	Approved	MUC-24, MGC-24	uc003pte.3	Q04900	OTTHUMG00000015339	ENST00000310786.4:c.516G>A	6.37:g.109690132C>T		NA	B4DQ85|E1P5E7|E1P5E8|E1P5E9|O95413|Q5JSU6|Q9BPV0|Q9NR26	37	CCDS5073.1																																																																																			CD164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041742.1		-	ENST00000310786.4	Silent	SNP	6 : 109690132 - 109690132 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	280	155
CD86	942	broad.mit.edu	37	3	121822548	121822548	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:121822548G>A	ENST00000330540.2	+	3	370	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CD86_ENST00000393627.2_Missense_Mutation_p.R79H|CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.R3H	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	85	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TATATGGGCCGCACAAGTTTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(67;1379 1389 36064 39806)							NA				0													143	142	142			NA	NA	3		NA											NA				121822548		2203	4300	6503	SO:0001583	missense				CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013	942	942		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1705	protein-coding gene	gene with protein product	B-lymphocyte antigen B7-2	601020	CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)	CD28LG2	NA	7513726	Standard	NM_006889	NM_006889	NA	Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.254G>A	3.37:g.121822548G>A	ENSP00000332049:p.Arg85His	NA	A0N0P0|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	37	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619268	0.87460	.	.	ENSG00000114013	ENST00000469710;ENST00000330540;ENST00000482356;ENST00000393627	T;T;T;T	0.72505	1.2;-0.66;-0.66;-0.66	5.54	5.54	0.83059	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000016	D	0.87414	0.6171	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89572	0.3814	10	0.87932	D	0	-18.8448	14.8575	0.70351	0.0:0.0:1.0:0.0	.	85	P42081	CD86_HUMAN	H	3;85;79;79	ENSP00000418988:R3H;ENSP00000332049:R85H;ENSP00000419116:R79H;ENSP00000377248:R79H	ENSP00000332049:R85H	R	+	2	0	CD86	123305238	0.999000	0.42202	0.958000	0.39756	0.915000	0.54546	4.887000	0.63156	2.884000	0.98904	0.655000	0.94253	CGC	CD86-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355671.1		+	ENST00000330540.2	Missense_Mutation	SNP	3 : 121822548 - 121822548 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	741	6
CD97	976	broad.mit.edu	37	19	14499539	14499539	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:14499539C>T	ENST00000242786.5	+	3	179	c.99C>T	c.(97-99)aaC>aaT	p.N33N	CD97_ENST00000587728.1_3'UTR|CD97_ENST00000357355.3_Silent_p.N33N|CD97_ENST00000358600.3_Silent_p.N33N	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	33	EGF-like 1.				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCCTCAGAACTCCTCGTGTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	134	133			NA	NA	19		NA											NA				14499539		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146	976	976		CD molecules, -, GPCR / Class B : Orphans	1711	protein-coding gene	gene with protein product	leukocyte antigen CD97, seven-span transmembrane protein, seven-transmembrane, heterodimeric receptor associated with inflammation, seven transmembrane helix receptor	601211	CD97 antigen		NA	7636245, 8786105	Standard	NM_078481	NM_078481	NA	Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.99C>T	19.37:g.14499539C>T		NA	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	37	CCDS32929.1																																																																																			CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459821.2		+	ENST00000242786.5	Silent	SNP	19 : 14499539 - 14499539 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	691	9
CDKN2A	1029	broad.mit.edu	37	9	21974771	21974773	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr9:21974771_21974773delGCC	ENST00000304494.5	-	1	324_326	c.54_56delGGC	c.(52-57)acggcc>acc	p.A21del	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_In_Frame_Del_p.A21del|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_In_Frame_Del_p.A21del|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_In_Frame_Del_p.A21del	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	21					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.S12fs*6(1)|p.0(1)|p.A17fs*5(1)|p.S7_A19del(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGGGCCGCGGCCGTGGCCAGCC	0.749		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1343	Whole gene deletion(1316)|Unknown(23)|Deletion - Frameshift(3)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(279)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(47)|ovary(34)|kidney(31)|pancreas(30)|breast(30)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001651	inframe_deletion			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889	1029	1029			1787	protein-coding gene	gene with protein product		600160	cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	CDKN2, MLM	NA	8152487, 7606716	Standard	NM_000077	NM_058195	NA	Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.54_56delGGC	9.37:g.21974771_21974773delGCC	ENSP00000307101:p.Ala21del	NA	D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	37	CCDS6510.1																																																																																			CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051915.1		-	ENST00000304494.5	In_Frame_Del	DEL	9 : 21974771 - 21974773 - PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	153	50
CFB	629	broad.mit.edu	37	6	31917095	31917095	+	Missense_Mutation	SNP	G	G	A	rs150398964		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:31917095G>A	ENST00000456570.1	+	21	2805	c.2750G>A	c.(2749-2751)cGc>cAc	p.R917H	CFB_ENST00000497841.1_3'UTR|CFB_ENST00000556679.1_Missense_Mutation_p.R917H|CFB_ENST00000477310.1_Missense_Mutation_p.R766H|CFB_ENST00000425368.2_Missense_Mutation_p.R415H			P00751	CFAB_HUMAN	complement factor B	415					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	p.R415H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGCAAGGATCGCAAAAACCCA	0.522		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)						G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	77	76	77		1244	0.9	0.9	6	dbSNP_134	77	0,8600		0,0,4300	no	missense	CFB	NM_001710.5	29	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	415/765	31917095	1,13005	2203	4300	6503	SO:0001583	missense			L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	629	629	3.4.21.47	Complement system	1037	protein-coding gene	gene with protein product		138470	B-factor, properdin	BFD, BF	NA		Standard	NM_001710	NM_001710	NA	Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000456570.1:c.2750G>A	6.37:g.31917095G>A	ENSP00000410815:p.Arg917His	NA	B0QZQ6|O15006|Q29944|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.19|11.19	1.566586|1.566586	0.28003|0.28003	2.27E-4|2.27E-4	0.0|0.0	ENSG00000243649|ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000483004|ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	.|T;T;T;T	.|0.78003	.|-1.14;-1.14;-1.14;-1.14	5.95|5.95	0.899|0.899	0.19271|0.19271	.|von Willebrand factor, type A (3);	.|0.469789	.|0.20245	.|N	.|0.096201	T|T	0.51618|0.51618	0.1685|0.1685	M|M	0.76328|0.76328	2.33|2.33	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.30361	.|0.277;0.021;0.02	.|B;B;B	.|0.19391	.|0.025;0.005;0.003	T|T	0.43507|0.43507	-0.9387|-0.9387	5|10	.|0.37606	.|T	.|0.19	-10.0671|-10.0671	4.8511|4.8511	0.13537|0.13537	0.3017:0.2701:0.4282:0.0|0.3017:0.2701:0.4282:0.0	.|.	.|917;415;415	.|B4E1Z4;P00751;P00751-2	.|.;CFAB_HUMAN;.	T|H	28|917;415;917;766	.|ENSP00000451848:R917H;ENSP00000416561:R415H;ENSP00000410815:R917H;ENSP00000418996:R766H	.|ENSP00000416561:R415H	A|R	+|+	1|2	0|0	CFB|CFB;XXbac-BPG116M5.17	32025074|32025074	0.000000|0.000000	0.05858|0.05858	0.886000|0.886000	0.34754|0.34754	0.262000|0.262000	0.26303|0.26303	-0.106000|-0.106000	0.10890|0.10890	0.127000|0.127000	0.18452|0.18452	-0.119000|-0.119000	0.15052|0.15052	GCA|CGC	CFB-001	NOVEL	basic|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356427.1		+	ENST00000456570.1	Missense_Mutation	SNP	6 : 31917095 - 31917095 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	313	4
CFL2	1073	broad.mit.edu	37	14	35182567	35182567	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:35182567G>A	ENST00000555765.1	-	2	321	c.153C>T	c.(151-153)taC>taT	p.Y51Y	CFL2_ENST00000556161.1_Silent_p.Y51Y|CFL2_ENST00000341223.3_Silent_p.Y68Y|CFL2_ENST00000298159.6_Silent_p.Y68Y			Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	68	ADF-H.					cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		CAAAAGATGTGTAGGGGTCCT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	126	129			NA	NA	14		NA											NA				35182567		2203	4300	6503	SO:0001819	synonymous_variant			AF087867	CCDS9649.1, CCDS9650.1, CCDS58311.1	14q13.2	2014-09-17			ENSG00000165410	ENSG00000165410	1073	1073			1875	protein-coding gene	gene with protein product	nemaline myopathy type 7	601443			NA	8800436	Standard	NM_138638	NM_138638	NA	Approved	NEM7	uc001wsh.3	Q9Y281	OTTHUMG00000029536	ENST00000555765.1:c.153C>T	14.37:g.35182567G>A		NA		37	CCDS58311.1																																																																																			CFL2-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409934.2		-	ENST00000555765.1	Silent	SNP	14 : 35182567 - 35182567 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	621	8
CHST15	51363	broad.mit.edu	37	10	125805512	125805512	+	Missense_Mutation	SNP	G	G	A	rs145631200		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr10:125805512G>A	ENST00000346248.5	-	2	859	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	73					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTTTTGAAGCGCAAAAACCCA	0.453		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	4e-04	SNP								NA				0								G	CYS/ARG,CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	85	75	79		217,217	4.8	1	10	dbSNP_134	79	0,8600		0,0,4300	yes	missense,missense	CHST15	NM_014863.2,NM_015892.3	180,180	0,3,6500	AA,AG,GG	NA	0.0,0.0681,0.0231	benign,benign	73/507,73/562	125805512	3,13003	2203	4300	6503	SO:0001583	missense			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	51363	51363	2.8.2.33	Sulfotransferases, membrane-bound	18137	protein-coding gene	gene with protein product	B cell RAG associated protein, N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase	608277			NA	9628581, 9754571, 11572857	Standard	NM_015892	NM_014863	NA	Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.217C>T	10.37:g.125805512G>A	ENSP00000333947:p.Arg73Cys	NA	O60338|O60474|Q86VM4	37	CCDS7638.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.620	0.676663	0.14841	6.81E-4	0.0	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000434607;ENST00000546346;ENST00000421115	.	.	.	5.67	4.77	0.60923	.	0.253960	0.41294	N	0.000904	T	0.20740	0.0499	N	0.04508	-0.205	0.31534	N	0.660833	B;B	0.25007	0.116;0.071	B;B	0.19391	0.025;0.011	T	0.13469	-1.0508	9	0.44086	T	0.13	-28.6264	9.5674	0.39407	0.1996:0.0:0.8004:0.0	.	73;73	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	C	73	.	ENSP00000333947:R73C	R	-	1	0	CHST15	125795502	0.905000	0.30787	0.951000	0.38953	0.262000	0.26303	1.908000	0.39907	1.415000	0.47037	-0.219000	0.12488	CGC	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050856.1		-	ENST00000346248.5	Missense_Mutation	SNP	10 : 125805512 - 125805512 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	473	5
CPAMD8	27151	broad.mit.edu	37	19	17010311	17010311	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:17010311C>T	ENST00000443236.1	-	37	4995	c.4964G>A	c.(4963-4965)cGc>cAc	p.R1655H		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1608						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GAGCACTCGGCGTCCAGCCAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	1,4185		0,1,2092	61	69	66		4964	2.9	1	19		66	2,8430		0,2,4214	yes	missense	CPAMD8	NM_015692.2	29	0,3,6306	TT,TC,CC	NA	0.0237,0.0239,0.0238	probably-damaging	1655/1933	17010311	3,12615	2093	4216	6309	SO:0001583	missense			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111	27151	27151			23228	protein-coding gene	gene with protein product		608841			NA	10574462	Standard	NM_015692	NM_015692	NA	Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4964G>A	19.37:g.17010311C>T	ENSP00000402505:p.Arg1655His	NA	Q8NC09|Q9ULD7	37	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.367865|4.367865	0.82463|0.82463	2.39E-4|2.39E-4	2.37E-4|2.37E-4	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	2.88|2.88	2.88|2.88	0.33553|0.33553	.|Alpha-macroglobulin, receptor-binding (3);	.|0.000000	.|0.64402	.|U	.|0.000006	T|T	0.75547|0.75547	0.3864|0.3864	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	T|T	0.79198|0.79198	-0.1902|-0.1902	5|9	.|0.66056	.|D	.|0.02	.|.	14.1052|14.1052	0.65085|0.65085	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1608	.|Q8IZJ3	.|CPMD8_HUMAN	T|H	1666|1655	.|.	.|ENSP00000291440:R1655H	A|R	-|-	1|2	0|0	CPAMD8|CPAMD8	16871311|16871311	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.983000|0.983000	0.72400|0.72400	5.548000|5.548000	0.67255|0.67255	1.364000|1.364000	0.46038|0.46038	0.543000|0.543000	0.68304|0.68304	GCC|CGC	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257531.2		-	ENST00000443236.1	Missense_Mutation	SNP	19 : 17010311 - 17010311 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	320	88
CPAMD8	27151	broad.mit.edu	37	19	17057923	17057923	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:17057923C>T	ENST00000443236.1	-	21	2795	c.2764G>A	c.(2764-2766)Gtt>Att	p.V922I		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	875						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGGACAGAACGACCCAGATG	0.597		NA											C	2	9e-04	0.0041	NA	2184	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	0.001	0.9135	EXOME	NA	NA	5e-04	SNP								NA				0													112	113	113			NA	NA	19		NA											NA				17057923		1990	4153	6143	SO:0001583	missense			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111	27151	27151			23228	protein-coding gene	gene with protein product		608841			NA	10574462	Standard	NM_015692	NM_015692	NA	Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2764G>A	19.37:g.17057923C>T	ENSP00000402505:p.Val922Ile	NA	Q8NC09|Q9ULD7	37	CCDS42519.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	11.25	1.582552	0.28180	.	.	ENSG00000160111	ENST00000291440	.	.	.	3.46	1.2	0.21068	.	0.085942	0.47093	N	0.000245	T	0.26629	0.0651	L	0.48877	1.53	0.80722	D	1	P	0.44429	0.835	B	0.25405	0.06	T	0.13124	-1.0521	9	0.17369	T	0.5	.	7.8366	0.29374	0.0:0.7433:0.1633:0.0935	.	875	Q8IZJ3	CPMD8_HUMAN	I	922	.	ENSP00000291440:V922I	V	-	1	0	CPAMD8	16918923	0.997000	0.39634	0.018000	0.16275	0.076000	0.17211	4.779000	0.62375	0.036000	0.15547	0.491000	0.48974	GTT	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257531.2		-	ENST00000443236.1	Missense_Mutation	SNP	19 : 17057923 - 17057923 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	841	262
CPED1	79974	broad.mit.edu	37	7	120768504	120768504	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:120768504C>T	ENST00000310396.5	+	11	1838	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	CPED1_ENST00000450913.2_Silent_p.F457F|CPED1_ENST00000423795.1_Silent_p.F237F	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1	NA											NA						TTATGACTTTCATAAAGGAAC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	84	83			NA	NA	7		NA											NA				120768504		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034	79974	79974			26159	protein-coding gene	gene with protein product			chromosome 7 open reading frame 58	C7orf58	NA	20056006	Standard	NM_024913	NM_024913	NA	Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1371C>T	7.37:g.120768504C>T		NA		37	CCDS34739.1																																																																																			CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346959.1		+	ENST00000310396.5	Silent	SNP	7 : 120768504 - 120768504 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	383	99
CRYGD	1421	broad.mit.edu	37	2	208988967	208988967	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:208988967C>G	ENST00000264376.4	-	2	148	c.121G>C	c.(121-123)Ggc>Cgc	p.G41R		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	41	Beta/gamma crystallin 'Greek key' 2.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		ATCCAGCAGCCGCTGTCCACG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	13	12			NA	NA	2		NA											NA				208988967		2173	4247	6420	SO:0001583	missense				CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231	1421	1421			2411	protein-coding gene	gene with protein product		123690		CRYG4	NA		Standard	NM_006891	NM_006891	NA	Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.121G>C	2.37:g.208988967C>G	ENSP00000264376:p.Gly41Arg	NA	Q17RF7|Q53R51|Q99681	37	CCDS2378.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854297	0.91355	.	.	ENSG00000118231	ENST00000264376	D	0.92752	-3.1	4.35	4.35	0.52113	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.97798	0.9277	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98877	1.0768	10	0.87932	D	0	.	14.3998	0.67034	0.0:1.0:0.0:0.0	.	41	P07320	CRGD_HUMAN	R	41	ENSP00000264376:G41R	ENSP00000264376:G41R	G	-	1	0	CRYGD	208697212	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.730000	0.68546	2.245000	0.73994	0.491000	0.48974	GGC	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256476.2		-	ENST00000264376.4	Missense_Mutation	SNP	2 : 208988967 - 208988967 G PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	97	6
CSPP1	79848	broad.mit.edu	37	8	68015300	68015300	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr8:68015300C>T	ENST00000262210.5	+	7	1010	c.979C>T	c.(979-981)Cct>Tct	p.P327S	CSPP1_ENST00000412460.1_Missense_Mutation_p.P33S	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	362						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGGGAATATGCCTCCTATGGA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	114	116			NA	NA	8		NA											NA				68015300		1868	4104	5972	SO:0001583	missense			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218	79848	79848			26193	protein-coding gene	gene with protein product		611654			NA	15580290, 24360807	Standard	NM_024790	NM_024790	NA	Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.979C>T	8.37:g.68015300C>T	ENSP00000262210:p.Pro327Ser	NA	A6ND63|Q70F00|Q8TBC1	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886309	0.33348	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.31769	1.48;1.48;1.48	5.04	3.2	0.36748	.	0.298091	0.27388	N	0.019590	T	0.42675	0.1213	L	0.45581	1.43	0.19775	N	0.999954	D;P;P;P	0.71674	0.998;0.927;0.846;0.846	D;P;P;P	0.72625	0.978;0.585;0.605;0.753	T	0.12243	-1.0555	10	0.44086	T	0.13	-3.3434	8.1653	0.31222	0.0:0.8142:0.0:0.1858	.	33;327;362;362	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	S	327;362;33;33	ENSP00000262210:P327S;ENSP00000415782:P33S;ENSP00000430092:P33S	ENSP00000262210:P327S	P	+	1	0	CSPP1	68177854	0.272000	0.24172	0.560000	0.28344	0.091000	0.18340	1.084000	0.30828	0.791000	0.33826	0.655000	0.94253	CCT	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379254.1		+	ENST00000262210.5	Missense_Mutation	SNP	8 : 68015300 - 68015300 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	232	4
CYP2A7	1549	broad.mit.edu	37	19	41383142	41383142	+	Missense_Mutation	SNP	G	G	A	rs151290022		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:41383142G>A	ENST00000301146.4	-	7	1655	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.R321C	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	372						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TTAACCCTGCGGGCCAAACTC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	102	90	94		1114,961	2.3	0	19	dbSNP_134	94	0,8598		0,0,4299	no	missense,missense	CYP2A7	NM_000764.2,NM_030589.2	180,180	0,1,6501	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	372/495,321/444	41383142	1,13003	2203	4299	6502	SO:0001583	missense			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077	1549	1549		Cytochrome P450s	2611	protein-coding gene	gene with protein product		608054	cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7		NA	7668294, 15128046	Standard	NM_030589	NM_030589	NA	Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.1114C>T	19.37:g.41383142G>A	ENSP00000301146:p.Arg372Cys	NA	Q13121	37	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813432	0.50527	2.27E-4	0.0	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.81078	-1.45;-1.45	2.29	2.29	0.28610	.	0.199062	0.42821	U	0.000649	D	0.90003	0.6879	M	0.89658	3.05	0.09310	N	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.91635	0.996;0.88;0.999	T	0.81795	-0.0769	10	0.87932	D	0	.	11.6888	0.51503	0.0:0.0:1.0:0.0	.	372;321;372	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	C	372;321	ENSP00000301146:R372C;ENSP00000291764:R321C	ENSP00000291764:R321C	R	-	1	0	CYP2A7	46074982	0.722000	0.28017	0.002000	0.10522	0.219000	0.24729	4.340000	0.59328	1.280000	0.44463	0.184000	0.17185	CGC	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463269.2		-	ENST00000301146.4	Missense_Mutation	SNP	19 : 41383142 - 41383142 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	490	132
DENND2C	163259	broad.mit.edu	37	1	115130471	115130471	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:115130471C>T	ENST00000393274.1	-	19	3159	c.2534G>A	c.(2533-2535)cGt>cAt	p.R845H	DENND2C_ENST00000393277.1_Missense_Mutation_p.R733H|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.R788H	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	845	dDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGAAAACACGCTCCCCACG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	88	93			NA	NA	1		NA											NA				115130471		2203	4300	6503	SO:0001583	missense				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984	163259	163259		DENN/MADD domain containing	24748	protein-coding gene	gene with protein product					NA		Standard	NM_198459	NM_198459	NA	Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2534G>A	1.37:g.115130471C>T	ENSP00000376955:p.Arg845His	NA	B1AL26|Q5TCX6|Q6P3R3	37	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902121	0.92035	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.48201	0.82;0.82;0.82	5.9	5.9	0.94986	dDENN (3);	0.000000	0.85682	D	0.000000	T	0.60470	0.2271	M	0.79123	2.44	0.27020	N	0.964491	D;P	0.89917	1.0;0.952	D;P	0.75484	0.986;0.629	T	0.59989	-0.7350	10	0.87932	D	0	.	13.5289	0.61611	0.0:0.929:0.0:0.071	.	845;788	Q68D51;Q68D51-3	DEN2C_HUMAN;.	H	788;845;845;733	ENSP00000376957:R788H;ENSP00000376955:R845H;ENSP00000376958:R733H	ENSP00000358553:R845H	R	-	2	0	DENND2C	114931994	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.847000	0.62867	2.817000	0.96982	0.551000	0.68910	CGT	DENND2C-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000314822.1		-	ENST00000393274.1	Missense_Mutation	SNP	1 : 115130471 - 115130471 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	309	5
DENND5A	23258	broad.mit.edu	37	11	9187392	9187392	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:9187392G>A	ENST00000530044.1	-	11	2291	c.2274C>T	c.(2272-2274)tgC>tgT	p.C758C	DENND5A_ENST00000527700.1_Silent_p.C101C|DENND5A_ENST00000328194.3_Silent_p.C758C			Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	758										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTTATTGCGGCATTCCTTCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	145	151			NA	NA	11		NA											NA				9187392		2201	4296	6497	SO:0001819	synonymous_variant			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014	23258	23258		DENN/MADD domain containing	19344	protein-coding gene	gene with protein product			RAB6 interacting protein 1	RAB6IP1	NA	10470851	Standard	NM_015213	NM_015213	NA	Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000530044.1:c.2274C>T	11.37:g.9187392G>A		NA	Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	37	CCDS58119.1																																																																																			DENND5A-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385912.1		-	ENST00000530044.1	Silent	SNP	11 : 9187392 - 9187392 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	483	5
DKC1	1736	broad.mit.edu	37	X	154001414	154001414	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:154001414T>A	ENST00000369550.5	+	11	1255	c.1045T>A	c.(1045-1047)Tta>Ata	p.L349I	DKC1_ENST00000475966.1_3'UTR	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	349	PUA.				cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCTATTGCATTAATGACCAC	0.408		NA							Congenital Dyskeratosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	95	97			NA	NA	X		NA											NA				154001414		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826	1736	1736			2890	protein-coding gene	gene with protein product		300126		DKC	NA	9590285, 9888995	Standard	NM_001363	NM_001142463	NA	Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1045T>A	X.37:g.154001414T>A	ENSP00000358563:p.Leu349Ile	NA	O43845|Q96G67|Q9Y505	37	CCDS14761.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.138074	0.56936	.	.	ENSG00000130826	ENST00000369550	D	0.95342	-3.68	5.7	-1.01	0.10169	Uncharacterised domain CHP00451 (1);Pseudouridine synthase/archaeosine transglycosylase (3);PUA-like domain (1);	0.000000	0.64402	D	0.000001	D	0.93363	0.7884	M	0.87180	2.865	0.44085	D	0.996845	B;B	0.33637	0.42;0.42	B;B	0.36378	0.159;0.223	D	0.86175	0.1602	10	0.26408	T	0.33	-6.4408	10.7852	0.46401	0.0:0.5019:0.0:0.4981	.	349;349	A8MUT5;O60832	.;DKC1_HUMAN	I	349	ENSP00000358563:L349I	ENSP00000358563:L349I	L	+	1	2	DKC1	153654608	0.851000	0.29673	0.004000	0.12327	0.277000	0.26821	1.370000	0.34238	-0.567000	0.06046	-0.323000	0.08544	TTA	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061180.5		+	ENST00000369550.5	Missense_Mutation	SNP	X : 154001414 - 154001414 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	336	20
DRG1	4733	broad.mit.edu	37	22	31819348	31819348	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:31819348G>A	ENST00000331457.4	+	6	826	c.665G>A	c.(664-666)cGt>cAt	p.R222H		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	222					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding	p.R222H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						GTGACTCTACGTAGTGATGCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	central_nervous_system(1)											166	131	143			NA	NA	22		NA											NA				31819348		2203	4298	6501	SO:0001583	missense			AJ005940	CCDS13897.1	22q12.2	2010-02-26	2001-11-28		ENSG00000185721	ENSG00000185721	4733	4733			3029	protein-coding gene	gene with protein product		603952	developmentally regulated GTP-binding protein 1	NEDD3	NA	7929244, 1449490	Standard	NM_004147	NM_004147	NA	Approved		uc003aku.3	Q9Y295	OTTHUMG00000030792	ENST00000331457.4:c.665G>A	22.37:g.31819348G>A	ENSP00000329715:p.Arg222His	NA	B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	37	CCDS13897.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276534	0.80580	.	.	ENSG00000185721	ENST00000331457	T	0.37584	1.19	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.49081	0.1536	M	0.85859	2.78	0.80722	D	1	B	0.22146	0.065	B	0.27170	0.077	T	0.53457	-0.8436	10	0.59425	D	0.04	-11.3866	18.1039	0.89513	0.0:0.0:1.0:0.0	.	222	Q9Y295	DRG1_HUMAN	H	222	ENSP00000329715:R222H	ENSP00000329715:R222H	R	+	2	0	DRG1	30149348	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	8.858000	0.92256	2.581000	0.87130	0.563000	0.77884	CGT	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075680.5		+	ENST00000331457.4	Missense_Mutation	SNP	22 : 31819348 - 31819348 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	287	7
ETV3L	440695	broad.mit.edu	37	1	157068573	157068573	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:157068573C>T	ENST00000454449.2	-	3	695	c.411G>A	c.(409-411)ccG>ccA	p.P137P		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	137						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGGGGGATGGCGGCGCCCGCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	68	66			NA	NA	1		NA											NA				157068573		2203	4300	6503	SO:0001819	synonymous_variant			AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831	440695	440695			33834	protein-coding gene	gene with protein product			ets variant gene 3-like		NA		Standard	NM_001004341	NM_001004341	NA	Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.411G>A	1.37:g.157068573C>T		NA		37	CCDS30893.1																																																																																			ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099024.2		-	ENST00000454449.2	Silent	SNP	1 : 157068573 - 157068573 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	367	6
ETV3L	440695	broad.mit.edu	37	1	157068581	157068581	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:157068581G>A	ENST00000454449.2	-	3	687	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	135						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGCGGCGCCCGCACTTCCCAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	87	85			NA	NA	1		NA											NA				157068581		2203	4300	6503	SO:0001583	missense			AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831	440695	440695			33834	protein-coding gene	gene with protein product			ets variant gene 3-like		NA		Standard	NM_001004341	NM_001004341	NA	Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.403C>T	1.37:g.157068581G>A	ENSP00000430271:p.Arg135Trp	NA		37	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125687	0.37533	.	.	ENSG00000253831	ENST00000454449	T	0.55413	0.52	4.61	0.269	0.15631	.	2.538740	0.02278	N	0.069120	T	0.18299	0.0439	N	0.20986	0.625	0.24495	N	0.994285	B	0.13145	0.007	B	0.09377	0.004	T	0.14643	-1.0465	10	0.51188	T	0.08	.	6.0065	0.19549	0.2498:0.0:0.617:0.1332	.	135	Q6ZN32	ETV3L_HUMAN	W	135	ENSP00000430271:R135W	ENSP00000430271:R135W	R	-	1	2	ETV3L	155335205	0.000000	0.05858	0.903000	0.35520	0.821000	0.46438	0.367000	0.20382	0.255000	0.21593	0.655000	0.94253	CGG	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099024.2		-	ENST00000454449.2	Missense_Mutation	SNP	1 : 157068581 - 157068581 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	412	6
FAM104B	90736	broad.mit.edu	37	X	55172586	55172586	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:55172586G>A	ENST00000477847.2	-	3	403	c.270C>T	c.(268-270)tcC>tcT	p.S90S	FAM104B_ENST00000425133.2_Silent_p.S94S|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000489298.1_Silent_p.S92S|FAM104B_ENST00000332132.4_Intron	NM_001166702.1	NP_001160174.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	0								p.S94S(1)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GGTTGATATGGGAGTAAAGAC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											78	66	70			NA	NA	X		NA											NA				55172586		2203	4297	6500	SO:0001819	synonymous_variant			BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518	90736	90736			25085	protein-coding gene	gene with protein product			chromosome X open reading frame 44	CXorf44	NA	12477932	Standard	NM_138362	NM_138362	NA	Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000477847.2:c.270C>T	X.37:g.55172586G>A		NA	A6NEH1|Q8WVU5|Q9BRA1	37	CCDS55423.1																																																																																			FAM104B-003	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056853.2		-	ENST00000477847.2	Silent	SNP	X : 55172586 - 55172586 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	181	4
FARP1	10160	broad.mit.edu	37	13	98896791	98896791	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:98896791C>T	ENST00000376581.5	+	3	254	c.218C>T	c.(217-219)aCg>aTg	p.T73M	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron	NM_001001715.2	NP_001001715.2	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	0	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.T73M(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCCTCCTGGACGGGTTGGGTA	0.488		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)											77	70	72			NA	NA	13		NA											NA				98896791		2203	4300	6503	SO:0001583	missense			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767	10160	10160		Rho guanine nucleotide exchange factors, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Pleckstrin homology (PH) domain containing	3591	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 75	602654			NA	9425278	Standard	NM_005766	NM_005766	NA	Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000376581.5:c.218C>T	13.37:g.98896791C>T	ENSP00000365765:p.Thr73Met	NA	Q6IQ29	37	CCDS32000.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.720448	0.00700	.	.	ENSG00000152767	ENST00000376581	T	0.52295	0.67	2.86	-5.72	0.02406	.	.	.	.	.	T	0.20941	0.0504	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18777	-1.0326	9	0.87932	D	0	.	2.3534	0.04290	0.1111:0.3886:0.1774:0.3229	.	73	Q5JVI9	.	M	73	ENSP00000365765:T73M	ENSP00000365765:T73M	T	+	2	0	FARP1	97694792	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.901000	0.00050	-4.564000	0.00042	-3.146000	0.00059	ACG	FARP1-006	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045546.2		+	ENST00000376581.5	Missense_Mutation	SNP	13 : 98896791 - 98896791 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	251	4
FAT3	120114	broad.mit.edu	37	11	92577374	92577374	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:92577374G>A	ENST00000525166.1	+	18	10413	c.10391G>A	c.(10390-10392)gGc>gAc	p.G3464D	FAT3_ENST00000298047.6_Missense_Mutation_p.G3614D|FAT3_ENST00000409404.2_Missense_Mutation_p.G3614D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3614	Cadherin 32.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGGACAGCGGCAAGTATGTC	0.498		NA								TCGA Ovarian(4;0.039)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	186	183			NA	NA	11		NA											NA				92577374		2135	4258	6393	SO:0001583	missense			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323	120114	120114		Cadherins / Cadherin-related	23112	protein-coding gene	gene with protein product	cadherin-related family member 10	612483	FAT tumor suppressor homolog 3 (Drosophila)		NA	11811999	Standard	NM_001008781	NM_001008781	NA	Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000525166.1:c.10391G>A	11.37:g.92577374G>A	ENSP00000432586:p.Gly3464Asp	NA	B5MDB0|Q96AU6	37		.	.	.	.	.	.	.	.	.	.	G	27.3	4.814470	0.90790	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.09445	2.98;2.98;2.98	5.82	5.82	0.92795	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.38295	0.1035	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.08269	-1.0730	9	0.87932	D	0	.	20.093	0.97828	0.0:0.0:1.0:0.0	.	3614;3614	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	D	3614;3614;3464	ENSP00000298047:G3614D;ENSP00000387040:G3614D;ENSP00000432586:G3464D	ENSP00000298047:G3614D	G	+	2	0	FAT3	92217022	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.787000	0.99055	2.756000	0.94617	0.561000	0.74099	GGC	FAT3-001	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000335363.3		+	ENST00000525166.1	Missense_Mutation	SNP	11 : 92577374 - 92577374 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	989	6
FKBP6	8468	broad.mit.edu	37	7	72754662	72754662	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:72754662G>A	ENST00000252037.4	+	6	680	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	FKBP6_ENST00000431982.2_Missense_Mutation_p.R199Q|FKBP6_ENST00000413573.2_Missense_Mutation_p.R174Q	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	204					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGCGCCGGCGATCAGCACCC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	60	59			NA	NA	7		NA											NA				72754662		1972	4150	6122	SO:0001583	missense			AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800	8468	8468			3722	protein-coding gene	gene with protein product	FK506 binding protein 6 (36kD), peptidylprolyl cis-trans isomerase, rotamase, immunophilin FKBP36	604839	FK506-binding protein 6 (36kD)		NA	9782077, 19001379	Standard	NM_003602	NM_003602	NA	Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.611G>A	7.37:g.72754662G>A	ENSP00000252037:p.Arg204Gln	NA	Q9UDS0	37	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	G	8.847	0.943556	0.18281	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	T;T;T;T	0.73897	-0.79;0.51;-0.79;-0.79	4.91	4.02	0.46733	Tetratricopeptide-like helical (1);	0.285857	0.32055	N	0.006641	T	0.50051	0.1593	N	0.21448	0.665	0.09310	N	0.999998	P;B;B	0.37864	0.61;0.185;0.287	B;B;B	0.25140	0.058;0.02;0.047	T	0.39165	-0.9627	10	0.15499	T	0.54	-10.6094	8.5323	0.33342	0.1717:0.0:0.8283:0.0	.	199;204;174	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	Q	199;159;174;204	ENSP00000416277:R199Q;ENSP00000402360:R159Q;ENSP00000394952:R174Q;ENSP00000252037:R204Q	ENSP00000252037:R204Q	R	+	2	0	FKBP6	72392598	0.532000	0.26346	0.135000	0.22099	0.007000	0.05969	4.204000	0.58460	2.284000	0.76573	0.563000	0.77884	CGA	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318723.1		+	ENST00000252037.4	Missense_Mutation	SNP	7 : 72754662 - 72754662 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	291	9
FUT9	10690	broad.mit.edu	37	6	96651947	96651947	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:96651947G>A	ENST00000302103.5	+	3	1242	c.916G>A	c.(916-918)Gac>Aac	p.D306N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	306					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GAAGGAAGTCGACAAAAACAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(98;1369 1476 6592 22940 26587)							NA				0								G	ASN/ASP	0,4406		0,0,2203	82	82	82		916	5.5	1	6		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	FUT9	NM_006581.3	23	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	306/360	96651947	1,13005	2203	4300	6503	SO:0001583	missense			AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461	10690	10690		Fucosyltransferases	4020	protein-coding gene	gene with protein product		606865			NA	10386598, 10575236	Standard	NM_006581	NM_006581	NA	Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.916G>A	6.37:g.96651947G>A	ENSP00000302599:p.Asp306Asn	NA	Q5T0W4	37	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466121	0.63625	0.0	1.16E-4	ENSG00000172461	ENST00000302103	T	0.29142	1.58	5.5	5.5	0.81552	.	0.045414	0.85682	D	0.000000	T	0.29423	0.0733	M	0.65975	2.015	0.58432	D	0.999995	P	0.47762	0.9	P	0.48304	0.573	T	0.08472	-1.0720	10	0.59425	D	0.04	-18.0675	11.7939	0.52088	0.0799:0.0:0.9201:0.0	.	306	Q9Y231	FUT9_HUMAN	N	306	ENSP00000302599:D306N	ENSP00000302599:D306N	D	+	1	0	FUT9	96758668	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.690000	0.84178	2.586000	0.87340	0.467000	0.42956	GAC	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041554.2		+	ENST00000302103.5	Missense_Mutation	SNP	6 : 96651947 - 96651947 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	283	99
GBA	2629	broad.mit.edu	37	1	155210420	155210420	+	Splice_Site	SNP	C	C	T	rs104886460		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155210420C>T	ENST00000327247.5	-	3	348		c.e3+1		GBA_ENST00000428024.3_Intron|GBA_ENST00000427500.3_Splice_Site|GBA_ENST00000368373.3_Splice_Site|GBA_ENST00000536770.1_Splice_Site|GBA_ENST00000493842.1_Splice_Site	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	NA					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GACTCACTCACCTGATGCCCA	0.527		NA							Gaucher disease type I					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CS920754|CS982204	GBA	S	rs104886460						197	180	185			NA	NA	1		NA											NA				155210420		2203	4300	6503	SO:0001630	splice_region_variant	Familial Cancer Database	glucocerebrosidase insufficiency	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	2629	2629	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	glucosylceramidase, glucosidase, beta; acid (includes glucosylceramidase)	GLUC	NA	3359914	Standard	NM_000157	NM_001005742	NA	Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.115+1G>A	1.37:g.155210420C>T		NA	A8K796|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	37	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045608	0.75846	.	.	ENSG00000177628	ENST00000427500;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000402928	.	.	.	3.62	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9121	0.47114	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GBA	153477044	1.000000	0.71417	0.857000	0.33713	0.875000	0.50365	2.207000	0.42788	2.024000	0.59613	0.591000	0.81541	.	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087204.1	Intron	-	ENST00000327247.5	Splice_Site	SNP	1 : 155210420 - 155210420 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	787	8
GBA	2629	broad.mit.edu	37	1	155210490	155210490	+	Missense_Mutation	SNP	T	T	C	rs1141804		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155210490T>C	ENST00000327247.5	-	3	278	c.46A>G	c.(46-48)Agt>Ggt	p.S16G	GBA_ENST00000428024.3_Intron|GBA_ENST00000427500.3_Missense_Mutation_p.S16G|GBA_ENST00000368373.3_Missense_Mutation_p.S16G|GBA_ENST00000536770.1_Missense_Mutation_p.S16G|GBA_ENST00000493842.1_5'UTR	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	16					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	CTTACCCTACTCAAAGGCTTG	0.547		NA							Gaucher disease type I					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	152	156			NA	NA	1		NA											NA				155210490		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	glucocerebrosidase insufficiency	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	2629	2629	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	glucosylceramidase, glucosidase, beta; acid (includes glucosylceramidase)	GLUC	NA	3359914	Standard	NM_000157	NM_001005742	NA	Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.46A>G	1.37:g.155210490T>C	ENSP00000314508:p.Ser16Gly	NA	A8K796|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	37	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	C	0.922	-0.715410	0.03206	.	.	ENSG00000177628	ENST00000427500;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000402928	D;D;D;D	0.99239	-5.52;-5.61;-5.61;-5.61	3.32	0.256	0.15567	.	0.478549	0.15720	N	0.247929	D	0.85605	0.5735	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	D	0.84644	0.0697	10	0.02654	T	1	.	6.3179	0.21200	0.0:0.4975:0.0:0.5025	rs1141804;rs3205613;rs17405269	16;16;16	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	G	16	ENSP00000402577:S16G;ENSP00000357357:S16G;ENSP00000314508:S16G;ENSP00000445560:S16G	ENSP00000314508:S16G	S	-	1	0	GBA	153477114	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.049000	0.11924	-0.301000	0.08882	-0.930000	0.02707	AGT	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087204.1		-	ENST00000327247.5	Missense_Mutation	SNP	1 : 155210490 - 155210490 C PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	610	7
GPAM	57678	broad.mit.edu	37	10	113932067	113932067	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr10:113932067G>A	ENST00000348367.4	-	9	864	c.667C>T	c.(667-669)Ccg>Tcg	p.P223S	GPAM_ENST00000423155.1_Missense_Mutation_p.P223S|GPAM_ENST00000369425.1_Missense_Mutation_p.P223S			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	223					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AACAGAAGCGGCAAATTCGTC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(161;1017 2606 18293 52943)							NA				0													100	99	99			NA	NA	10		NA											NA				113932067		2203	4300	6503	SO:0001583	missense			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927	57678	57678			24865	protein-coding gene	gene with protein product	glycerol-3-phosphate acyltransferase 1, mitochondrial	602395			NA	10997877, 8369314	Standard	NM_020918	NM_020918	NA	Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.667C>T	10.37:g.113932067G>A	ENSP00000265276:p.Pro223Ser	NA	Q5VW51|Q86TA3	37	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994071	0.93167	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	D;D;D	0.93811	-3.29;-3.29;-3.29	5.77	5.77	0.91146	Phospholipid/glycerol acyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.95079	0.8406	L	0.45422	1.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93359	0.6725	10	0.27785	T	0.31	-20.7866	18.2424	0.89971	0.0:0.0:1.0:0.0	.	223;223	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	S	223	ENSP00000265276:P223S;ENSP00000409242:P223S;ENSP00000358433:P223S	ENSP00000265276:P223S	P	-	1	0	GPAM	113922057	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.414000	0.97362	2.730000	0.93505	0.650000	0.86243	CCG	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050377.1		-	ENST00000348367.4	Missense_Mutation	SNP	10 : 113932067 - 113932067 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	264	5
GRIK3	2899	broad.mit.edu	37	1	37346245	37346245	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:37346245G>A	ENST00000373091.3	-	3	556	c.540C>T	c.(538-540)gaC>gaT	p.D180D	GRIK3_ENST00000373093.4_Silent_p.D180D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	180					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.D180D(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CTGTACTGTCGTCATAGACCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	large_intestine(2)											259	247	251			NA	NA	1		NA											NA				37346245		2203	4300	6503	SO:0001819	synonymous_variant			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873	2899	2899		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4581	protein-coding gene	gene with protein product		138243			NA	8128318	Standard	NM_000831	NM_000831	NA	Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.540C>T	1.37:g.37346245G>A		NA	B1AMS6|Q13004|Q16136	37	CCDS416.1																																																																																			GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012053.1		-	ENST00000373091.3	Silent	SNP	1 : 37346245 - 37346245 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	1105	31
GRIN2B	2904	broad.mit.edu	37	12	13716777	13716777	+	Missense_Mutation	SNP	A	A	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:13716777A>T	ENST00000609686.1	-	13	3604	c.3395T>A	c.(3394-3396)tTc>tAc	p.F1132Y		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	NA					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCCAGGTAGAAGTCCCGTAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	86	89			NA	NA	12		NA											NA				13716777		2203	4300	6503	SO:0001583	missense				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079		2904	2904		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4586	protein-coding gene	gene with protein product		138252		NMDAR2B	NA	1350383	Standard		NM_000834	NA	Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3395T>A	12.37:g.13716777A>T	ENSP00000477455:p.Phe1132Tyr	NA	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.671252	0.67814	.	.	ENSG00000150086	ENST00000279593	T	0.20463	2.07	5.52	5.52	0.82312	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44265	0.1285	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	T	0.23619	-1.0183	10	0.35671	T	0.21	.	15.6766	0.77332	1.0:0.0:0.0:0.0	.	1132	Q13224	NMDE2_HUMAN	Y	1132	ENSP00000279593:F1132Y	ENSP00000279593:F1132Y	F	-	2	0	GRIN2B	13608044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.869000	0.92326	2.099000	0.63709	0.533000	0.62120	TTC	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268014.2		-	ENST00000609686.1	Missense_Mutation	SNP	12 : 13716777 - 13716777 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	185	6
HCLS1	3059	broad.mit.edu	37	3	121354642	121354642	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:121354642C>T	ENST00000314583.3	-	9	722	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.G174S	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	211					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TCATTGAAGCCGACAGCGCTC	0.557		NA											C	3	0.0014	NA	NA	2184	NA	1	,	,	NA	3e-04	0.004	NA	NA	0.0014	1	EXOME	NA	NA	5e-04	SNP								NA				0								C	SER/GLY	0,4406		0,0,2203	86	88	87		631	3	1	3		87	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HCLS1	NM_005335.4	56	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging	211/487	121354642	1,13005	2203	4300	6503	SO:0001583	missense				CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353	3059	3059			4844	protein-coding gene	gene with protein product	cortactin-like	601306			NA	8978766, 15710041	Standard	NM_005335	NM_001292041	NA	Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.631G>A	3.37:g.121354642C>T	ENSP00000320176:p.Gly211Ser	NA	Q53Y93|Q6IBK9|Q9UDK0	37	CCDS3003.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	13.00	2.107767	0.37242	0.0	1.16E-4	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.25414	1.91;1.8	4.76	2.96	0.34315	.	0.252518	0.45606	N	0.000346	T	0.24236	0.0587	L	0.35542	1.07	0.53688	D	0.999973	P;D	0.56746	0.952;0.977	B;P	0.48952	0.334;0.596	T	0.02632	-1.1131	10	0.72032	D	0.01	-9.5433	9.1271	0.36821	0.0:0.8154:0.0:0.1846	.	174;211	E7EVW7;P14317	.;HCLS1_HUMAN	S	211;174	ENSP00000320176:G211S;ENSP00000387645:G174S	ENSP00000320176:G211S	G	-	1	0	HCLS1	122837332	0.914000	0.31030	0.979000	0.43373	0.580000	0.36256	1.597000	0.36729	1.357000	0.45904	-0.150000	0.13652	GGC	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355144.1		-	ENST00000314583.3	Missense_Mutation	SNP	3 : 121354642 - 121354642 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	372	26
HERC1	8925	broad.mit.edu	37	15	64025227	64025227	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:64025227C>T	ENST00000443617.2	-	14	2851	c.2764G>A	c.(2764-2766)Gga>Aga	p.G922R		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	922					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.G922*(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GACAGATTTCCGTAGCCAGTA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Nonsense(2)	lung(2)											117	113	114			NA	NA	15		NA											NA				64025227		1949	4145	6094	SO:0001583	missense			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657	8925	8925		WD repeat domain containing	4867	protein-coding gene	gene with protein product		605109	hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1		NA	8861955, 9233772	Standard	NM_003922	NM_003922	NA	Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2764G>A	15.37:g.64025227C>T	ENSP00000390158:p.Gly922Arg	NA	Q8IW65	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217516	0.58560	.	.	ENSG00000103657	ENST00000443617	T	0.22743	1.94	5.67	5.67	0.87782	.	0.312879	0.26400	U	0.024596	T	0.09291	0.0229	N	0.08118	0	0.40185	D	0.97733	P	0.43633	0.813	B	0.27608	0.081	T	0.32508	-0.9904	10	0.16420	T	0.52	.	17.9412	0.89027	0.0:1.0:0.0:0.0	.	922	Q15751	HERC1_HUMAN	R	922	ENSP00000390158:G922R	ENSP00000390158:G922R	G	-	1	0	HERC1	61812280	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	2.592000	0.46171	2.658000	0.90341	0.655000	0.94253	GGA	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418523.1		-	ENST00000443617.2	Missense_Mutation	SNP	15 : 64025227 - 64025227 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	300	104
HTR2C	3358	broad.mit.edu	37	X	114141599	114141599	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:114141599T>A	ENST00000276198.1	+	6	1726	c.998T>A	c.(997-999)cTg>cAg	p.L333Q	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.L333Q	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	333					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACCAATATTCTGTCTGTTCTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	174	180			NA	NA	X		NA											NA				114141599		2203	4300	6503	SO:0001583	missense				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246	3358	3358		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5295	protein-coding gene	gene with protein product		312861	5-hydroxytryptamine (serotonin) receptor 2C	HTR1C	NA	7895773	Standard	NM_000868	NM_000868	NA	Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.998T>A	X.37:g.114141599T>A	ENSP00000276198:p.Leu333Gln	NA	Q5VUF8|Q9NP28	37	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.547060	0.45383	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.44482	0.92;0.92	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.389101	0.26089	N	0.026406	T	0.69904	0.3163	M	0.93720	3.45	0.80722	D	1	D	0.58620	0.983	D	0.63703	0.917	T	0.77851	-0.2434	10	0.72032	D	0.01	.	12.0835	0.53684	0.0:0.0:0.0:1.0	.	333	P28335	5HT2C_HUMAN	Q	333	ENSP00000276198:L333Q;ENSP00000361019:L333Q	ENSP00000276198:L333Q	L	+	2	0	HTR2C	114047855	1.000000	0.71417	0.996000	0.52242	0.595000	0.36748	5.039000	0.64185	1.827000	0.53221	0.381000	0.24937	CTG	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057962.1		+	ENST00000276198.1	Missense_Mutation	SNP	X : 114141599 - 114141599 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	292	158
HYDIN	54768	broad.mit.edu	37	16	71101253	71101253	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:71101253G>T	ENST00000393567.2	-	15	2165	c.2015C>A	c.(2014-2016)gCa>gAa	p.A672E	HYDIN_ENST00000448089.2_Missense_Mutation_p.A672E|HYDIN_ENST00000321489.5_Missense_Mutation_p.A672E|HYDIN_ENST00000448691.1_Missense_Mutation_p.A672E|HYDIN_ENST00000288168.10_Missense_Mutation_p.A689E|HYDIN_ENST00000541601.1_Missense_Mutation_p.A689E|HYDIN_ENST00000393550.2_Missense_Mutation_p.A687E|HYDIN_ENST00000538248.1_Missense_Mutation_p.A699E	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	672								p.A672E(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CACCACGAGTGCCAGCTCGTA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	large_intestine(3)											77	65	69			NA	NA	16		NA											NA				71101253		2198	4300	6498	SO:0001583	missense			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423	54768	54768		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	19368	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 31	610812	hydrocephalus inducing, hydrocephalus inducing homolog (mouse)		NA	12719380, 23022101	Standard		NM_001198542	NA	Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2015C>A	16.37:g.71101253G>T	ENSP00000377197:p.Ala672Glu	NA	A6NC70|A6NLZ0|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	37	CCDS59269.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.09|16.09	3.024197|3.024197	0.54683|0.54683	.|.	.|.	ENSG00000157423|ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550|ENST00000542890	T;T;T;T;T;T;T;T|.	0.06371|.	3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.000000|.	0.32703|.	U|.	0.005751|.	T|T	0.67822|0.67822	0.2934|0.2934	L|L	0.48642|0.48642	1.525|1.525	0.47994|0.47994	D|D	0.99956|0.99956	P;P;B;P;D|.	0.89917|.	0.875;0.875;0.34;0.875;1.0|.	P;P;B;P;D|.	0.87578|.	0.729;0.729;0.108;0.547;0.998|.	T|T	0.65413|0.65413	-0.6174|-0.6174	10|5	0.06365|.	T|.	0.9|.	.|.	17.1332|17.1332	0.86732|0.86732	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	699;689;689;672;672|.	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23|.	.;.;.;.;.|.	E|N	672;672;672;672;672;699;689;689;687|74	ENSP00000377197:A672E;ENSP00000398544:A672E;ENSP00000394826:A672E;ENSP00000314736:A672E;ENSP00000444970:A699E;ENSP00000437341:A689E;ENSP00000288168:A689E;ENSP00000377181:A687E|.	ENSP00000288168:A689E|.	A|H	-|-	2|1	0|0	HYDIN|HYDIN	69658754|69658754	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.864000|0.864000	0.49448|0.49448	6.181000|6.181000	0.71988|0.71988	2.332000|2.332000	0.79248|0.79248	0.603000|0.603000	0.83216|0.83216	GCA|CAC	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398624.3		-	ENST00000393567.2	Missense_Mutation	SNP	16 : 71101253 - 71101253 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	397	117
IRS4	8471	broad.mit.edu	37	X	107976904	107976904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:107976904G>A	ENST00000372129.2	-	1	2747	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	891						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AAAGAAAGTCGGTTAGGTCTC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	180	179			NA	NA	X		NA											NA				107976904		2203	4300	6503	SO:0001587	stop_gained			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124	8471	8471			6128	protein-coding gene	gene with protein product		300904			NA	9261155, 9553137	Standard	NM_003604	NM_003604	NA	Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2671C>T	X.37:g.107976904G>A	ENSP00000361202:p.Arg891*	NA		37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715445	0.89112	.	.	ENSG00000133124	ENST00000372129	.	.	.	5.2	0.841	0.18918	.	1.187410	0.06301	N	0.701010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.1902	9.9723	0.41761	0.0:0.0905:0.3551:0.5544	.	.	.	.	X	891	.	ENSP00000361202:R891X	R	-	1	2	IRS4	107863560	0.027000	0.19231	0.001000	0.08648	0.010000	0.07245	0.452000	0.21795	0.138000	0.18790	-0.324000	0.08512	CGA	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057879.1		-	ENST00000372129.2	Nonsense_Mutation	SNP	X : 107976904 - 107976904 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	696	8
ISY1	57461	broad.mit.edu	37	3	128859253	128859253	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:128859253C>T	ENST00000393292.3	-	7	437	c.376G>A	c.(376-378)Gca>Aca	p.A126T	ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000393295.3_Missense_Mutation_p.A126T|ISY1_ENST00000273541.8_Missense_Mutation_p.A126T|ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.A126T					ISY1 splicing factor homolog (S. cerevisiae)	NA										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						AAATCTTTTGCTGCTCCAAAG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	189	193			NA	NA	3		NA											NA				128859253		1842	4079	5921	SO:0001583	missense				CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682	57461	57461			29201	protein-coding gene	gene with protein product	functional spliceosome-associated protein 33	612764			NA	16103217	Standard	NM_020701	NM_020701	NA	Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393292.3:c.376G>A	3.37:g.128859253C>T	ENSP00000376970:p.Ala126Thr	NA		37		.	.	.	.	.	.	.	.	.	.	C	35	5.462755	0.96257	.	.	ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541;ENST00000496163;ENST00000393292	T	0.61980	0.06	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.86045	0.5839	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90111	0.4192	10	0.87932	D	0	.	17.2241	0.86964	0.0:1.0:0.0:0.0	.	126;126;126	Q9ULR0-2;Q9ULR0;Q9ULR0-1	.;ISY1_HUMAN;.	T	126;126;126;64;126	ENSP00000273541:A126T	ENSP00000273541:A126T	A	-	1	0	ISY1	130341943	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	7.214000	0.77958	2.663000	0.90544	0.591000	0.81541	GCA	ISY1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000267857.3		-	ENST00000393292.3	Missense_Mutation	SNP	3 : 128859253 - 128859253 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	727	6
ITPR2	3709	broad.mit.edu	37	12	26816711	26816712	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	AT	AT	-	-	AT	AT	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:26816711_26816712delAT	ENST00000381340.3	-	15	2035_2036	c.1619_1620delAT	c.(1618-1620)gatfs	p.D540fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	540					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GATCCCCCAGATCTTCAAGTCT	0.46		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104	3709	3709		Ion channels / Inositol triphosphate receptors	6181	protein-coding gene	gene with protein product	cilia and flagella associated protein 48	600144	inositol 1,4,5-triphosphate receptor, type 2		NA	8081734	Standard	NM_002223	XM_006719064	NA	Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1619_1620delAT	12.37:g.26816711_26816712delAT	ENSP00000370744:p.Asp540fs	NA	O94773	37	CCDS41764.1																																																																																			ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402732.1		-	ENST00000381340.3	Frame_Shift_Del	DEL	12 : 26816711 - 26816712 - PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	1204	450
KBTBD8	84541	broad.mit.edu	37	3	67054666	67054666	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:67054666C>T	ENST00000417314.2	+	3	1324	c.1275C>T	c.(1273-1275)tgC>tgT	p.C425C	KBTBD8_ENST00000295568.4_Silent_p.C399C|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	425										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CGACTGTTTGCGCGATGCCAG	0.413		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	2e-04	NA	NA	NA	4e-04	0.95	LOWCOV	NA	NA	4e-04	SNP								NA				0													190	176	181			NA	NA	3		NA											NA				67054666		2203	4300	6503	SO:0001819	synonymous_variant			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376	84541	84541		BTB/POZ domain containing	30691	protein-coding gene	gene with protein product	T-cell activation kelch repeat protein				NA	11347906	Standard	NM_032505	NM_032505	NA	Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1275C>T	3.37:g.67054666C>T		NA	Q96JI5	37	CCDS2906.2																																																																																			KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352189.1		+	ENST00000417314.2	Silent	SNP	3 : 67054666 - 67054666 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	747	6
KCNJ12	3768	broad.mit.edu	37	17	21319451	21319451	+	Missense_Mutation	SNP	C	C	T	rs144590967	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:21319451C>T	ENST00000583088.1	+	3	1692	c.797C>T	c.(796-798)tCg>tTg	p.S266L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S266L	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12	NA										NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TTTCTGGTGTCGCCCATCACC	0.607		NA								Prostate(3;0.18)			C	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0.05	EXOME	NA	NA	4e-04	SNP								NA				0								C	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	124	92	103		797	5.4	0.9	17	dbSNP_134	103	1,8599		0,1,4299	yes	missense	KCNJ12	NM_021012.4	145	0,3,6500	TT,TC,CC	NA	0.0116,0.0454,0.0231	probably-damaging	266/434	21319451	3,13003	2203	4300	6503	SO:0001583	missense			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185	3768	3768		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6258	protein-coding gene	gene with protein product		602323	potassium inwardly-rectifying channel, subfamily J, inhibitor 1	KCNJN1	NA	7859381, 12417321, 16382105	Standard	NM_021012	NM_021012	NA	Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.797C>T	17.37:g.21319451C>T	ENSP00000463778:p.Ser266Leu	NA		37	CCDS11219.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	26.4	4.736363	0.89482	4.54E-4	1.16E-4	ENSG00000184185	ENST00000331718	D	0.90385	-2.66	5.43	5.43	0.79202	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.93677	0.7980	L	0.45744	1.44	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.93754	0.7061	10	0.56958	D	0.05	.	19.2333	0.93849	0.0:1.0:0.0:0.0	.	266	Q14500	IRK12_HUMAN	L	266	ENSP00000328150:S266L	ENSP00000328150:S266L	S	+	2	0	KCNJ12	21260044	1.000000	0.71417	0.935000	0.37517	0.924000	0.55760	7.680000	0.84062	2.554000	0.86153	0.655000	0.94253	TCG	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255060.2		+	ENST00000583088.1	Missense_Mutation	SNP	17 : 21319451 - 21319451 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	241	53
KCTD19	146212	broad.mit.edu	37	16	67333359	67333359	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:67333359G>A	ENST00000304372.5	-	6	948	c.893C>T	c.(892-894)cCg>cTg	p.P298L	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	298						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CGCAGAGTCCGGGTACTTGAC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	101	98			NA	NA	16		NA											NA				67333359		2049	4201	6250	SO:0001583	missense			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676	146212	146212			24753	protein-coding gene	gene with protein product			potassium channel tetramerisation domain containing 19		NA		Standard	XM_085367	NM_001100915	NA	Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.893C>T	16.37:g.67333359G>A	ENSP00000305702:p.Pro298Leu	NA	B4DZ49|Q8N804	37	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044864	0.93685	.	.	ENSG00000168676	ENST00000304372	T	0.63913	-0.07	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000005	T	0.75250	0.3824	L	0.50333	1.59	0.53688	D	0.999976	D	0.89917	1.0	D	0.79108	0.992	T	0.75977	-0.3127	10	0.87932	D	0	-15.5417	17.0645	0.86556	0.0:0.0:1.0:0.0	.	298	Q17RG1	KCD19_HUMAN	L	298	ENSP00000305702:P298L	ENSP00000305702:P298L	P	-	2	0	KCTD19	65890860	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.859000	0.69539	2.884000	0.98904	0.655000	0.94253	CCG	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422061.1		-	ENST00000304372.5	Missense_Mutation	SNP	16 : 67333359 - 67333359 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	453	137
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	GRCh37	CM076251	KRAS	M	rs121913530						93	83	86			NA	NA	12		NA											NA				25398285		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.34G>C	12.37:g.25398285C>G	ENSP00000308495:p.Gly12Arg	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398285 - 25398285 G PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	233	81
KRT26	353288	broad.mit.edu	37	17	38926251	38926251	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:38926251G>A	ENST00000335552.4	-	4	853	c.805C>T	c.(805-807)Cag>Tag	p.Q269*		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	269	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TTGCGGTTCTGCTCAGCCAAG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													229	201	211			NA	NA	17		NA											NA				38926251		2203	4300	6503	SO:0001587	stop_gained			AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393	353288	353288		-, Intermediate filaments type I, keratins (acidic)	30840	protein-coding gene	gene with protein product			keratin 25B	KRT25B	NA	16831889	Standard	NM_181539	NM_181539	NA	Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.805C>T	17.37:g.38926251G>A	ENSP00000334798:p.Gln269*	NA	A2RUL2|B2RNH8	37	CCDS11374.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886500	0.91814	.	.	ENSG00000186393	ENST00000335552	.	.	.	5.0	4.01	0.46588	.	0.113960	0.39834	N	0.001254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2179	0.37360	0.0:0.1394:0.5984:0.2622	.	.	.	.	X	269	.	ENSP00000334798:Q269X	Q	-	1	0	KRT26	36179777	0.996000	0.38824	1.000000	0.80357	0.883000	0.51084	2.338000	0.43957	1.206000	0.43276	0.655000	0.94253	CAG	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257215.1		-	ENST00000335552.4	Nonsense_Mutation	SNP	17 : 38926251 - 38926251 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	661	266
L3MBTL4	91133	broad.mit.edu	37	18	5969486	5969486	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr18:5969486C>T	ENST00000284898.6	-	18	1747	c.1547G>A	c.(1546-1548)cGg>cAg	p.R516Q	L3MBTL4_ENST00000535782.1_Missense_Mutation_p.R320Q|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R516Q|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R507Q	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	516					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GGGAAGGTCCCGAAAAGGGTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(41;748 902 17366 28959 43175)							NA				0								C	GLN/ARG	1,4223		0,1,2111	70	79	76		1547	2.8	0.5	18		76	0,8458		0,0,4229	no	missense	L3MBTL4	NM_173464.3	43	0,1,6340	TT,TC,CC	NA	0.0,0.0237,0.0079	probably-damaging	516/624	5969486	1,12681	2112	4229	6341	SO:0001583	missense			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655	91133	91133		Sterile alpha motif (SAM) domain containing	26677	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_173464	NM_173464	NA	Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1547G>A	18.37:g.5969486C>T	ENSP00000284898:p.Arg516Gln	NA	A8MTL8|Q8IXS3	37	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479138	0.63849	2.37E-4	0.0	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782	T;T;T;T	0.15718	2.4;2.49;2.4;2.49	5.53	2.8	0.32819	.	0.165870	0.39985	N	0.001214	T	0.31263	0.0791	M	0.66939	2.045	0.31034	N	0.717072	D;D	0.76494	0.989;0.999	P;D	0.67382	0.772;0.951	T	0.22312	-1.0220	10	0.20519	T	0.43	.	8.205	0.31449	0.0:0.77:0.0:0.23	.	516;507	Q8NA19;F8W9S8	LMBL4_HUMAN;.	Q	516;507;516;320	ENSP00000382976:R516Q;ENSP00000318543:R507Q;ENSP00000284898:R516Q;ENSP00000444774:R320Q	ENSP00000284898:R516Q	R	-	2	0	L3MBTL4	5959486	0.001000	0.12720	0.480000	0.27341	0.672000	0.39443	0.433000	0.21477	0.301000	0.22738	0.655000	0.94253	CGG	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254448.2		-	ENST00000284898.6	Missense_Mutation	SNP	18 : 5969486 - 5969486 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	386	21
LAMA4	3910	broad.mit.edu	37	6	112460431	112460431	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:112460431G>A	ENST00000230538.7	-	24	3570	c.3173C>T	c.(3172-3174)gCc>gTc	p.A1058V	LAMA4_ENST00000389463.4_Missense_Mutation_p.A1051V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A1051V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A1051V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1058	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCTCACCACGGCATAACCGGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	184	188			NA	NA	6		NA											NA				112460431		2203	4300	6503	SO:0001583	missense				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769	3910	3910		Laminins	6484	protein-coding gene	gene with protein product		600133			NA	7959779	Standard	NM_001105206	NM_001105206	NA	Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.3173C>T	6.37:g.112460431G>A	ENSP00000230538:p.Ala1058Val	NA	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180380	0.57800	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.092613	0.85682	D	0.000000	D	0.86360	0.5914	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.972;0.988	D	0.86224	0.1633	10	0.87932	D	0	.	20.4434	0.99119	0.0:0.0:1.0:0.0	.	1058;1051	Q16363;Q16363-2	LAMA4_HUMAN;.	V	1058;1051;1051;1051	ENSP00000230538:A1058V;ENSP00000429488:A1051V;ENSP00000374114:A1051V;ENSP00000416470:A1051V	ENSP00000230538:A1058V	A	-	2	0	LAMA4	112567124	1.000000	0.71417	0.889000	0.34880	0.034000	0.12701	4.986000	0.63851	2.838000	0.97847	0.655000	0.94253	GCC	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041876.2		-	ENST00000230538.7	Missense_Mutation	SNP	6 : 112460431 - 112460431 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	395	5
LGR4	55366	broad.mit.edu	37	11	27389696	27389696	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:27389696G>A	ENST00000379214.4	-	18	3017	c.2574C>T	c.(2572-2574)tgC>tgT	p.C858C	LGR4_ENST00000389858.4_Silent_p.C834C	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	858						integral to membrane|plasma membrane	protein-hormone receptor activity	p.C858C(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CGCAGCAGTCGCAAACAGTCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											133	127	129			NA	NA	11		NA											NA				27389696		2202	4299	6501	SO:0001819	synonymous_variant			AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213	55366	55366		GPCR / Class A : Orphans	13299	protein-coding gene	gene with protein product		606666	G protein-coupled receptor 48, leucine-rich repeat-containing G protein-coupled receptor 4	GPR48	NA	10894923	Standard	NM_018490	NM_018490	NA	Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.2574C>T	11.37:g.27389696G>A		NA	A6NCH3|Q9NYD1	37	CCDS31449.1																																																																																			LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257467.1		-	ENST00000379214.4	Silent	SNP	11 : 27389696 - 27389696 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	827	6
LINS	55180	broad.mit.edu	37	15	101115212	101115212	+	Missense_Mutation	SNP	T	T	C			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:101115212T>C	ENST00000314742.8	-	4	833	c.611A>G	c.(610-612)gAt>gGt	p.D204G	LINS_ENST00000561308.1_Missense_Mutation_p.D204G|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000560133.1_Missense_Mutation_p.D85G	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	204										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TGAACATGAATCTTTAAAGAT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	82	83			NA	NA	15		NA											NA				101115212		2203	4298	6501	SO:0001583	missense			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471	55180	55180			30922	protein-coding gene	gene with protein product		610350	lines homolog 1 (Drosophila)	LINS1	NA	12119551, 8889548	Standard	NM_018148	NM_001040616	NA	Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.611A>G	15.37:g.101115212T>C	ENSP00000318423:p.Asp204Gly	NA	Q96FW2|Q9NVQ3	37	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.101550	0.56183	.	.	ENSG00000140471	ENST00000314742	T	0.39056	1.1	5.89	4.72	0.59763	.	0.106857	0.64402	D	0.000005	T	0.56217	0.1970	L	0.55834	1.745	0.34460	D	0.701637	D;D;D	0.89917	0.996;0.995;1.0	D;P;D	0.70716	0.921;0.814;0.97	T	0.64803	-0.6321	10	0.34782	T	0.22	-18.4759	12.9119	0.58184	0.0:0.0:0.1443:0.8557	.	85;204;204	B4DQT3;Q8NG48-2;Q8NG48	.;.;LINES_HUMAN	G	204	ENSP00000318423:D204G	ENSP00000318423:D204G	D	-	2	0	LINS	98932735	0.995000	0.38212	0.934000	0.37439	0.591000	0.36615	2.642000	0.46596	2.254000	0.74563	0.533000	0.62120	GAT	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313592.1		-	ENST00000314742.8	Missense_Mutation	SNP	15 : 101115212 - 101115212 C PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	529	63
LRP1B	53353	broad.mit.edu	37	2	141267495	141267495	+	Splice_Site	SNP	A	A	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:141267495A>G	ENST00000389484.3	-	52	9370		c.e52+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	NA					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTGTTCATACCGCAGCCTG	0.512		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													121	104	110			NA	NA	2		NA											NA				141267495		2203	4300	6503	SO:0001630	splice_region_variant			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8398+1T>C	2.37:g.141267495A>G		NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	31	5.096901	0.94197	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP1B	140983965	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.852000	0.92215	2.371000	0.80710	0.533000	0.62120	.	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2	Intron	-	ENST00000389484.3	Splice_Site	SNP	2 : 141267495 - 141267495 G PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	362	6
LRP1B	53353	broad.mit.edu	37	2	141200074	141200074	+	Splice_Site	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:141200074G>A	ENST00000389484.3	-	66	11384	c.10413C>T	c.(10411-10413)tgC>tgT	p.C3471C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3471	LDL-receptor class A 24.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GACACTCACCGCAGTTGGCCT	0.448		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													140	127	131			NA	NA	2		NA											NA				141200074		2203	4300	6503	SO:0001630	splice_region_variant			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10414+1C>T	2.37:g.141200074G>A		NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1																																																																																			LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2	Silent	-	ENST00000389484.3	Splice_Site	SNP	2 : 141200074 - 141200074 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	325	11
MAP7D1	55700	broad.mit.edu	37	1	36638181	36638181	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:36638181C>T	ENST00000316156.4	+	4	1030	c.577C>T	c.(577-579)Cgt>Tgt	p.R193C	MAP7D1_ENST00000373150.4_Missense_Mutation_p.R193C|MAP7D1_ENST00000373151.2_Missense_Mutation_p.R193C|MAP7D1_ENST00000474796.1_3'UTR			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	193						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CGAGCAACGCCGTGCAGCCCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	22	22			NA	NA	1		NA											NA				36638181		2202	4299	6501	SO:0001583	missense			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871	55700	55700			25514	protein-coding gene	gene with protein product			proline arginine rich coiled coil 1, arginine/proline rich coiled-coil 1	PARCC1, RPRC1	NA	10574461	Standard	NM_018067	XM_005271024	NA	Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000316156.4:c.577C>T	1.37:g.36638181C>T	ENSP00000320228:p.Arg193Cys	NA	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	37		.	.	.	.	.	.	.	.	.	.	C	20.5	4.006474	0.74932	.	.	ENSG00000116871	ENST00000429533;ENST00000316156;ENST00000373150;ENST00000373151	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.41	2.07	0.26955	.	0.000000	0.36167	N	0.002748	T	0.35278	0.0926	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	T	0.21861	-1.0233	10	0.87932	D	0	-9.3369	13.1246	0.59346	0.5338:0.4662:0.0:0.0	.	193;193;193	Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;MA7D1_HUMAN	C	154;193;193;193	ENSP00000390091:R154C;ENSP00000320228:R193C;ENSP00000362243:R193C;ENSP00000362244:R193C	ENSP00000320228:R193C	R	+	1	0	MAP7D1	36410768	0.998000	0.40836	0.921000	0.36526	0.840000	0.47671	1.949000	0.40313	0.590000	0.29694	0.655000	0.94253	CGT	MAP7D1-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000020762.1		+	ENST00000316156.4	Missense_Mutation	SNP	1 : 36638181 - 36638181 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	126	37
MECR	51102	broad.mit.edu	37	1	29543138	29543138	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:29543138G>A	ENST00000373791.3	-	2	380	c.8C>T	c.(7-9)gCg>gTg	p.A3V	MECR_ENST00000263702.6_Missense_Mutation_p.A79V|MECR_ENST00000489248.1_5'UTR	NM_001024732.1|NM_016011.2	NP_001019903|NP_057095.3	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	79					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GATAGGGGCCGCCAGCATCTT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													228	228	228			NA	NA	1		NA											NA				29543138		2203	4300	6503	SO:0001583	missense				CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	51102	51102	1.3.1.38		19691	protein-coding gene	gene with protein product	nuclear receptor binding factor 1, mitochondrial 2-enoyl thioester reductase	608205			NA	9795230, 12654921	Standard	NM_016011	XM_005245885	NA	Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000373791.3:c.8C>T	1.37:g.29543138G>A	ENSP00000362896:p.Ala3Val	NA	B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	37	CCDS30660.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254225	0.95336	.	.	ENSG00000116353	ENST00000373791;ENST00000263702	T;T	0.59772	0.24;0.24	5.87	5.87	0.94306	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.76183	0.3952	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	P	0.62014	0.897	T	0.76854	-0.2805	10	0.42905	T	0.14	.	15.7789	0.78243	0.0:0.0:1.0:0.0	.	79	Q9BV79	MECR_HUMAN	V	3;79	ENSP00000362896:A3V;ENSP00000263702:A79V	ENSP00000263702:A79V	A	-	2	0	MECR	29415725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.434000	0.90294	2.798000	0.96311	0.650000	0.86243	GCG	MECR-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130741.1		-	ENST00000373791.3	Missense_Mutation	SNP	1 : 29543138 - 29543138 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	922	6
MUC20	200958	broad.mit.edu	37	3	195452870	195452870	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:195452870G>A	ENST00000436408.1	+	2	1520	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	MUC20_ENST00000447234.2_Missense_Mutation_p.E466K|MUC20_ENST00000445522.2_Missense_Mutation_p.E431K|MUC20_ENST00000320736.6_Missense_Mutation_p.E295K			Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	466	Involved in oligomerization.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TGACTCCACTGAAGCAAAACC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	60	63			NA	NA	3		NA											NA				195452870		2187	4268	6455	SO:0001583	missense			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945	200958	200958		Mucins	23282	protein-coding gene	gene with protein product		610360			NA	14565953	Standard	NM_152673	NM_001282506	NA	Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000436408.1:c.1396G>A	3.37:g.195452870G>A	ENSP00000396774:p.Glu466Lys	NA	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	37		.	.	.	.	.	.	.	.	.	.	G	8.997	0.979161	0.18812	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.37752	1.7;2.04;1.85;1.18	4.28	2.47	0.30058	.	0.677507	0.13088	N	0.414779	T	0.22513	0.0543	N	0.20986	0.625	0.09310	N	1	B	0.24963	0.115	B	0.24974	0.057	T	0.19031	-1.0318	10	0.35671	T	0.21	-0.4165	6.4066	0.21668	0.2241:0.0:0.7759:0.0	.	295	E9PH32	.	K	466;295;466;431	ENSP00000414350:E466K;ENSP00000325431:E295K;ENSP00000396774:E466K;ENSP00000405629:E431K	ENSP00000325431:E295K	E	+	1	0	MUC20	196938541	0.069000	0.21087	0.005000	0.12908	0.004000	0.04260	0.769000	0.26604	0.554000	0.29061	0.514000	0.50259	GAA	MUC20-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000341836.1		+	ENST00000436408.1	Missense_Mutation	SNP	3 : 195452870 - 195452870 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	186	5
MUC5B	727897	broad.mit.edu	37	11	1264911	1264911	+	Silent	SNP	T	T	C			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:1264911T>C	ENST00000529681.1	+	31	6859	c.6801T>C	c.(6799-6801)tcT>tcC	p.S2267S	MUC5B_ENST00000447027.1_Silent_p.S2270S|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2267	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.S2267S(1)|p.S2270S(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCCCTTCTCCAGGGACGA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	lung(2)											127	156	146			NA	NA	11		NA											NA				1264911		2155	4230	6385	SO:0001819	synonymous_variant			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983	727897	727897		Mucins	7516	protein-coding gene	gene with protein product		600770	mucin 5, subtype B, tracheobronchial	MUC5	NA	9804771	Standard	XM_001126093	NM_002458	NA	Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6801T>C	11.37:g.1264911T>C		NA	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	37	CCDS44515.2																																																																																			MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390041.2		+	ENST00000529681.1	Silent	SNP	11 : 1264911 - 1264911 C PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	577	9
MYH13	8735	broad.mit.edu	37	17	10209864	10209864	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:10209864G>A	ENST00000418404.3	-	36	5541	c.5378C>T	c.(5377-5379)aCg>aTg	p.T1793M	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.T1793M			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1793					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTCCTTCACCGTCTGCTCCAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	148	148			NA	NA	17		NA											NA				10209864		2203	4300	6503	SO:0001583	missense			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788	8735	8735		Myosins / Myosin superfamily : Class II	7571	protein-coding gene	gene with protein product	extraocular muscle myosin heavy chain, extraocular myosin heavy chain	603487	myosin, heavy polypeptide 13, skeletal muscle		NA	9806854	Standard	NM_003802	NM_003802	NA	Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5378C>T	17.37:g.10209864G>A	ENSP00000404570:p.Thr1793Met	NA	O95252	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779373	0.70107	.	.	ENSG00000006788	ENST00000252172	T	0.78246	-1.16	4.22	4.22	0.49857	Myosin tail (1);	.	.	.	.	D	0.86648	0.5983	H	0.95850	3.73	0.38306	D	0.943117	B	0.30193	0.272	B	0.39617	0.305	D	0.89946	0.4076	9	0.72032	D	0.01	.	12.7179	0.57125	0.0831:0.0:0.9169:0.0	.	1793	Q9UKX3	MYH13_HUMAN	M	1793	ENSP00000252172:T1793M	ENSP00000252172:T1793M	T	-	2	0	MYH13	10150589	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	6.439000	0.73430	2.347000	0.79759	0.491000	0.48974	ACG	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442255.1		-	ENST00000418404.3	Missense_Mutation	SNP	17 : 10209864 - 10209864 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	600	237
MYLK	4638	broad.mit.edu	37	3	123419230	123419230	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:123419230C>T	ENST00000360772.3	-	19	3463	c.3085G>A	c.(3085-3087)Gcc>Acc	p.A1029T	MYLK_ENST00000346322.5_Missense_Mutation_p.A960T|MYLK_ENST00000360304.3_Missense_Mutation_p.A1029T|MYLK_ENST00000359169.1_Missense_Mutation_p.A1029T|MYLK_ENST00000475616.1_Missense_Mutation_p.A1029T			Q15746	MYLK_HUMAN	myosin light chain kinase	1029	6 X 12 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCAGGCTTGGCGTTGCCCACG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	129	127			NA	NA	3		NA											NA				123419230		2203	4300	6503	SO:0001583	missense			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	4638	4638	2.7.11.18	Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7590	protein-coding gene	gene with protein product	smooth muscle myosin light chain kinase	600922	myosin, light polypeptide kinase		NA	8575746	Standard	NM_053025	NM_053026	NA	Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000360772.3:c.3085G>A	3.37:g.123419230C>T	ENSP00000354004:p.Ala1029Thr	NA	O95796|O95797|O95798|O95799|Q14844|Q16794|Q5MY99|Q5MYA0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UIT9	37	CCDS3023.1	.	.	.	.	.	.	.	.	.	.	C	6.410	0.443824	0.12164	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.70869	-0.52;-0.45;-0.52;-0.49;-0.45	5.44	0.483	0.16820	.	.	.	.	.	T	0.67135	0.2861	M	0.75264	2.295	0.29840	N	0.829312	D;P;D;B;P;B	0.59767	0.986;0.951;0.978;0.021;0.955;0.011	P;B;P;B;B;B	0.48770	0.589;0.371;0.501;0.013;0.322;0.006	T	0.60016	-0.7345	9	0.20046	T	0.44	.	2.1129	0.03707	0.1236:0.4786:0.12:0.2778	.	1029;107;960;1029;960;1029	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	T	1029;1029;1029;960;1029	ENSP00000354004:A1029T;ENSP00000353452:A1029T;ENSP00000352088:A1029T;ENSP00000320622:A960T;ENSP00000418335:A1029T	ENSP00000320622:A960T	A	-	1	0	MYLK	124901920	0.022000	0.18835	0.020000	0.16555	0.051000	0.14879	0.057000	0.14279	-0.205000	0.10219	0.455000	0.32223	GCC	MYLK-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280599.2		-	ENST00000360772.3	Missense_Mutation	SNP	3 : 123419230 - 123419230 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	819	212
MYO18B	84700	broad.mit.edu	37	22	26164808	26164808	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:26164808G>T	ENST00000407587.2	+	4	1094	c.925G>T	c.(925-927)Gta>Tta	p.V309L	MYO18B_ENST00000536101.1_Missense_Mutation_p.V309L|MYO18B_ENST00000335473.7_Missense_Mutation_p.V309L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	309						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGGAAGCACGTAAGGCCCCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	29	29			NA	NA	22		NA											NA				26164808		1977	4151	6128	SO:0001583	missense			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454	84700	84700		Myosins / Myosin superfamily : Class XVIII	18150	protein-coding gene	gene with protein product		607295			NA	12209013, 12547197	Standard	NM_032608	NM_032608	NA	Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.925G>T	22.37:g.26164808G>T	ENSP00000386096:p.Val309Leu	NA	B2RWP3|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	37		.	.	.	.	.	.	.	.	.	.	g	9.910	1.209362	0.22289	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86297	-2.08;-2.08;-2.1	4.6	1.27	0.21489	.	1.784430	0.03308	N	0.190055	T	0.78168	0.4241	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.61347	-0.7081	10	0.33940	T	0.23	.	5.4849	0.16743	0.1802:0.0:0.6607:0.1591	.	309;309;309	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	L	309	ENSP00000441229:V309L;ENSP00000334563:V309L;ENSP00000386096:V309L	ENSP00000334563:V309L	V	+	1	0	MYO18B	24494808	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-0.692000	0.05127	0.051000	0.15978	0.306000	0.20318	GTA	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400691.1		+	ENST00000407587.2	Missense_Mutation	SNP	22 : 26164808 - 26164808 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	75	27
NALCN	259232	broad.mit.edu	37	13	101736104	101736104	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:101736104G>A	ENST00000251127.6	-	31	3622	c.3541C>T	c.(3541-3543)Cga>Tga	p.R1181*		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1181						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATCTTCAGTCGGCTCTTCAGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	74	74			NA	NA	13		NA											NA				101736104		2203	4300	6503	SO:0001587	stop_gained			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452	259232	259232		Ion channels / Sodium leak channels, non-selective	19082	protein-coding gene	gene with protein product		611549	voltage gated channel like 1	VGCNL1	NA	17448995	Standard	NM_052867	XM_006719943	NA	Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3541C>T	13.37:g.101736104G>A	ENSP00000251127:p.Arg1181*	NA	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	41	9.100694	0.99066	.	.	ENSG00000102452	ENST00000251127	.	.	.	5.2	1.64	0.23874	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6363	0.56685	0.0:0.0:0.5839:0.4161	.	.	.	.	X	1181	.	ENSP00000251127:R1181X	R	-	1	2	NALCN	100534105	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.610000	0.36869	0.389000	0.25086	0.650000	0.86243	CGA	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045663.2		-	ENST00000251127.6	Nonsense_Mutation	SNP	13 : 101736104 - 101736104 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	250	63
NDUFV2	4729	broad.mit.edu	37	18	9122540	9122540	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr18:9122540G>A	ENST00000400033.1	+	6	456	c.339G>A	c.(337-339)atG>atA	p.M113I	RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000318388.6_Missense_Mutation_p.M110I			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	110					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	TACCTCCAATGAGAGTATATG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	96	97			NA	NA	18		NA											NA				9122540		2203	4300	6503	SO:0001583	missense			X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	4729	4729	1.6.5.3	Mitochondrial respiratory chain complex / Complex I	7717	protein-coding gene	gene with protein product	complex I 24kDa subunit, NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial	600532	NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)		NA	9763677, 7607668	Standard	NM_021074	NM_021074	NA	Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000400033.1:c.339G>A	18.37:g.9122540G>A	ENSP00000382908:p.Met113Ile	NA	Q9BV41	37		.	.	.	.	.	.	.	.	.	.	G	18.86	3.714320	0.68730	.	.	ENSG00000178127	ENST00000318388;ENST00000400033	T;T	0.41400	1.0;1.0	5.93	5.93	0.95920	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	N	0.13299	0.325	0.80722	D	1	B	0.23806	0.091	B	0.40329	0.326	T	0.16928	-1.0386	10	0.11182	T	0.66	-14.8923	20.3397	0.98756	0.0:0.0:1.0:0.0	.	110	P19404	NDUV2_HUMAN	I	110;113	ENSP00000327268:M110I;ENSP00000382908:M113I	ENSP00000327268:M110I	M	+	3	0	NDUFV2	9112540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.623000	0.98386	2.803000	0.96430	0.585000	0.79938	ATG	NDUFV2-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000258944.1		+	ENST00000400033.1	Missense_Mutation	SNP	18 : 9122540 - 9122540 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	1039	11
NIP7	51388	broad.mit.edu	37	16	69373736	69373736	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:69373736C>T	ENST00000254940.5	+	1	404	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000569637.2_Missense_Mutation_p.R2W|NIP7_ENST00000254941.6_Missense_Mutation_p.R2W	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	2					ribosome assembly	nucleolus	protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				GGGAAAAATGCGGCCTTTGAC	0.592		NA									OREG0023907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	155	149			NA	NA	16		NA											NA				69373736		2198	4300	6498	SO:0001583	missense			AB112439	CCDS10877.1, CCDS56003.1	16q22.1	2013-03-04	2013-03-04		ENSG00000132603	ENSG00000132603	51388	51388			24328	protein-coding gene	gene with protein product			nuclear import 7 homolog (S. cerevisiae)		NA	14660641, 22195017	Standard	NM_016101	NM_016101	NA	Approved	CGI-37, FLJ10296, HSPC031, KD93	uc002exa.3	Q9Y221	OTTHUMG00000137568	ENST00000254940.5:c.4C>T	16.37:g.69373736C>T	ENSP00000254940:p.Arg2Trp	1114	B2RD04|Q9NZZ0	37	CCDS10877.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466306	0.43839	.	.	ENSG00000132603	ENST00000254940;ENST00000254941	.	.	.	5.69	-0.394	0.12434	.	0.131434	0.53938	D	0.000048	D	0.84165	0.5412	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.987;0.998	D	0.86223	0.1632	9	0.87932	D	0	-3.7941	12.5225	0.56067	0.6287:0.272:0.0994:0.0	.	2;2	Q9Y221-2;Q9Y221	.;NIP7_HUMAN	W	2	.	ENSP00000254940:R2W	R	+	1	2	NIP7	67931237	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	0.740000	0.26188	0.012000	0.14892	0.456000	0.33151	CGG	NIP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268947.2		+	ENST00000254940.5	Missense_Mutation	SNP	16 : 69373736 - 69373736 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	1311	7
NPEPPS	9520	broad.mit.edu	37	17	45669380	45669380	+	Missense_Mutation	SNP	A	A	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:45669380A>G	ENST00000322157.4	+	11	1556	c.1319A>G	c.(1318-1320)aAa>aGa	p.K440R	NPEPPS_ENST00000530173.1_Missense_Mutation_p.K436R|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.K360R	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	440					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TCATATAGCAAAGGTGCATCT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	90	112			NA	NA	17		NA											NA				45669380		1976	4119	6095	SO:0001583	missense			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	9520	9520	3.4.11.2		7900	protein-coding gene	gene with protein product	puromycin-sensitive aminopeptidase, metalloproteinase MP100	606793			NA	9048733, 10329370	Standard	NM_006310	NM_006310	NA	Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1319A>G	17.37:g.45669380A>G	ENSP00000320324:p.Lys440Arg	NA	Q6P145|Q9NP16|Q9UEM2	37	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.881700	0.91740	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	5.51	5.51	0.81932	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.65261	-0.6211	10	0.87932	D	0	.	15.6257	0.76855	1.0:0.0:0.0:0.0	.	440;436;440	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	R	436;440;427;360;123;137	ENSP00000433287:K436R;ENSP00000320324:K440R;ENSP00000442461:K360R;ENSP00000435639:K123R;ENSP00000435966:K137R	ENSP00000320324:K440R	K	+	2	0	NPEPPS	43024379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.112000	0.94314	2.099000	0.63709	0.528000	0.53228	AAA	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384269.1		+	ENST00000322157.4	Missense_Mutation	SNP	17 : 45669380 - 45669380 G PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	146	26
NR1H2	7376	broad.mit.edu	37	19	50881485	50881485	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:50881485C>T	ENST00000253727.5	+	5	496	c.261C>T	c.(259-261)tgC>tgT	p.C87C	NR1H2_ENST00000593926.1_Silent_p.C87C|NR1H2_ENST00000599105.1_Silent_p.C87C|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000598168.1_Silent_p.C87C	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	87					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ACGAGCTTTGCCGTGTCTGTG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	109	103			NA	NA	19		NA											NA				50881485		2187	4297	6484	SO:0001819	synonymous_variant			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408	7376	7376		Nuclear hormone receptors	7965	protein-coding gene	gene with protein product	liver X receptor-beta	600380	ubiquitously-expressed nuclear receptor	UNR	NA	7782080, 7971966	Standard		NM_007121	NA	Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.261C>T	19.37:g.50881485C>T		NA	A8K490|Q12970|Q5I0Y1	37	CCDS42593.1																																																																																			NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464724.2		+	ENST00000253727.5	Silent	SNP	19 : 50881485 - 50881485 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	1178	7
NYNRIN	57523	broad.mit.edu	37	14	24886290	24886290	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:24886290G>A	ENST00000382554.3	+	9	5653	c.5335G>A	c.(5335-5337)Gca>Aca	p.A1779T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1779					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GATGAGCAGCGCAAACATTGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	56	54			NA	NA	14		NA											NA				24886290		2071	4207	6278	SO:0001583	missense			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978	57523	57523			20165	protein-coding gene	gene with protein product	Cousin of GIN1		KIAA1305	KIAA1305	NA	19561090, 17114934	Standard		NM_025081	NA	Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5335G>A	14.37:g.24886290G>A	ENSP00000371994:p.Ala1779Thr	NA	Q6P153|Q86TR3|Q9HAC4	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640226	0.67244	.	.	ENSG00000205978	ENST00000382554	T	0.10192	2.9	5.08	5.08	0.68730	.	.	.	.	.	T	0.20251	0.0487	N	0.24115	0.695	0.22842	N	0.998664	D	0.89917	1.0	D	0.76575	0.988	T	0.11036	-1.0604	9	0.46703	T	0.11	.	13.8328	0.63391	0.0:0.0:1.0:0.0	.	1779	Q9P2P1	NYNRI_HUMAN	T	1779	ENSP00000371994:A1779T	ENSP00000371994:A1779T	A	+	1	0	NYNRIN	23956130	0.890000	0.30428	0.748000	0.31131	0.644000	0.38419	1.278000	0.33179	2.640000	0.89533	0.655000	0.94253	GCA	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412939.1		+	ENST00000382554.3	Missense_Mutation	SNP	14 : 24886290 - 24886290 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	335	5
OLFML2B	25903	broad.mit.edu	37	1	161953664	161953664	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:161953664G>A	ENST00000367940.2	-	8	2266	c.2057C>T	c.(2056-2058)gCc>gTc	p.A686V	OLFML2B_ENST00000294794.3_Missense_Mutation_p.A685V|OLFML2B_ENST00000367938.1_Missense_Mutation_p.A168V			Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	685	Olfactomedin-like.							p.A685V(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCTATCCACGGCATACAGCAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(1)|prostate(1)											267	245	252			NA	NA	1		NA											NA				161953664		2203	4300	6503	SO:0001583	missense			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745	25903	25903			24558	protein-coding gene	gene with protein product					NA		Standard	NM_015441	XM_005245075	NA	Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000367940.2:c.2057C>T	1.37:g.161953664G>A	ENSP00000356917:p.Ala686Val	NA	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	37		.	.	.	.	.	.	.	.	.	.	G	20.5	4.009105	0.75046	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.87179	-2.22;-2.22;-2.22	5.36	5.36	0.76844	Olfactomedin-like (3);	.	.	.	.	D	0.88709	0.6510	L	0.46741	1.465	0.44373	D	0.997279	D;P	0.89917	1.0;0.917	D;P	0.87578	0.998;0.817	D	0.86127	0.1572	8	0.25106	T	0.35	.	16.5695	0.84607	0.0:0.0:1.0:0.0	.	686;685	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	V	685;686;168	ENSP00000294794:A685V;ENSP00000356917:A686V;ENSP00000356915:A168V	ENSP00000294794:A685V	A	-	2	0	OLFML2B	160220288	1.000000	0.71417	0.766000	0.31476	0.396000	0.30629	9.726000	0.98782	2.491000	0.84063	0.561000	0.74099	GCC	OLFML2B-006	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000383006.1		-	ENST00000367940.2	Missense_Mutation	SNP	1 : 161953664 - 161953664 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	645	6
OLIG3	167826	broad.mit.edu	37	6	137815036	137815036	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:137815036C>T	ENST00000367734.2	-	1	495	c.272G>A	c.(271-273)cGc>cAc	p.R91H		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CTTGCGTTCGCGTCCGTTGAT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	100	112			NA	NA	6		NA											NA				137815036		2203	4300	6503	SO:0001583	missense			AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468	167826	167826		Basic helix-loop-helix proteins	18003	protein-coding gene	gene with protein product		609323			NA		Standard	NM_175747	NM_175747	NA	Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.272G>A	6.37:g.137815036C>T	ENSP00000356708:p.Arg91His	NA	Q8N8Q0	37	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044310	0.75732	.	.	ENSG00000177468	ENST00000367734	T	0.73789	-0.78	5.44	4.57	0.56435	Helix-loop-helix DNA-binding (5);	0.069292	0.53938	D	0.000052	D	0.88262	0.6389	H	0.96239	3.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.77004	0.989	D	0.91956	0.5575	10	0.87932	D	0	-1.623	14.2214	0.65830	0.0:0.9275:0.0:0.0725	.	91	Q7RTU3	OLIG3_HUMAN	H	91	ENSP00000356708:R91H	ENSP00000356708:R91H	R	-	2	0	OLIG3	137856729	1.000000	0.71417	0.706000	0.30403	0.994000	0.84299	6.087000	0.71362	1.287000	0.44583	0.591000	0.81541	CGC	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042405.1		-	ENST00000367734.2	Missense_Mutation	SNP	6 : 137815036 - 137815036 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	616	86
ONECUT1	3175	broad.mit.edu	37	15	53081647	53081647	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:53081647C>T	ENST00000305901.5	-	1	562	c.435G>A	c.(433-435)gtG>gtA	p.V145V	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	145					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		AGCTACCGCTCACGTTGCCCG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	54	52			NA	NA	15		NA											NA				53081647		2194	4293	6487	SO:0001819	synonymous_variant			U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856	3175	3175		Homeoboxes / CUT class	8138	protein-coding gene	gene with protein product		604164	one cut domain, family member 1	HNF6, HNF6A	NA	8887657, 8790352	Standard		NM_004498	NA	Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.435G>A	15.37:g.53081647C>T		NA	B2RTV4|Q99744|Q9UMR6	37	CCDS10150.1																																																																																			ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254849.2		-	ENST00000305901.5	Silent	SNP	15 : 53081647 - 53081647 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	216	30
OR10X1	128367	broad.mit.edu	37	1	158548759	158548759	+	Nonsense_Mutation	SNP	T	T	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:158548759T>A	ENST00000368150.1	-	1	930	c.931A>T	c.(931-933)Aaa>Taa	p.K311*		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AAAGCATTTTTCATGTCCTTA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	130	128			NA	NA	1		NA											NA				158548759		2203	4300	6503	SO:0001587	stop_gained			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400	128367	128367		GPCR / Class A : Olfactory receptors	14995	protein-coding gene	gene with protein product			olfactory receptor, family 10, subfamily X, member 1	OR10X1P	NA		Standard	NM_001004477	NM_001004477	NA	Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.931A>T	1.37:g.158548759T>A	ENSP00000357132:p.Lys311*	NA	Q6IFR8	37	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.490702	0.44249	.	.	ENSG00000186400	ENST00000368150	.	.	.	4.5	3.29	0.37713	.	0.000000	0.51477	D	0.000097	.	.	.	.	.	.	0.46458	D	0.99905	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3298	0.38014	0.0:0.0:0.1795:0.8205	.	.	.	.	X	311	.	ENSP00000357132:K311X	K	-	1	0	OR10X1	156815383	0.876000	0.30132	0.997000	0.53966	0.423000	0.31445	2.291000	0.43540	2.001000	0.58596	0.460000	0.39030	AAA	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051850.2		-	ENST00000368150.1	Nonsense_Mutation	SNP	1 : 158548759 - 158548759 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	655	45
OR11H12	440153	broad.mit.edu	37	14	19377838	19377838	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:19377838C>A	ENST00000550708.1	+	1	317	c.245C>A	c.(244-246)tCc>tAc	p.S82Y		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S82F(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGAAATTTCTCCTTTTTAGAG	0.423		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)											41	50	47			NA	NA	14		NA											NA				19377838		1971	4084	6055	SO:0001583	missense				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115	440153	440153		GPCR / Class A : Olfactory receptors	30738	protein-coding gene	gene with protein product					NA		Standard	NM_001013354	NM_001013354	NA	Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.245C>A	14.37:g.19377838C>A	ENSP00000449002:p.Ser82Tyr	NA		37	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	c	10.05	1.243398	0.22796	.	.	ENSG00000257115	ENST00000550708	T	0.12361	2.69	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.171384	0.27447	N	0.019339	T	0.48572	0.1507	H	0.98936	4.375	0.24804	N	0.992688	D	0.89917	1.0	D	0.83275	0.996	T	0.63541	-0.6614	9	0.87932	D	0	.	7.1009	0.25336	0.0:0.9999:0.0:1.0E-4	.	82	B2RN74	O11HC_HUMAN	Y	82	ENSP00000449002:S82Y	ENSP00000449002:S82Y	S	+	2	0	CR383656.1	18447838	0.178000	0.23122	0.997000	0.53966	0.280000	0.26924	1.272000	0.33109	0.619000	0.30197	0.064000	0.15345	TCC	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408402.1		+	ENST00000550708.1	Missense_Mutation	SNP	14 : 19377838 - 19377838 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	1282	242
OR52I1	390037	broad.mit.edu	37	11	4615445	4615445	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:4615445G>A	ENST00000530443.2	+	1	177	c.177G>A	c.(175-177)cgG>cgA	p.R59R	OR52I1_ENST00000450052.2_Silent_p.R83R	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTCCACTCGGCATGAGCCCA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	143	150			NA	NA	11		NA											NA				4615445		2201	4298	6499	SO:0001819	synonymous_variant			BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268	390037	390037		GPCR / Class A : Olfactory receptors	15220	protein-coding gene	gene with protein product					NA		Standard	NM_001005169	NM_001005169	NA	Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.177G>A	11.37:g.4615445G>A		NA	Q6IF91	37	CCDS59223.1																																																																																			OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385947.2		+	ENST00000530443.2	Silent	SNP	11 : 4615445 - 4615445 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	614	5
OR5L1	219437	broad.mit.edu	37	11	55579771	55579771	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:55579771T>A	ENST00000333973.2	+	1	918	c.829T>A	c.(829-831)Ttc>Atc	p.F277I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GGCCACCGTGTTCTACACAGT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	70	73			NA	NA	11		NA											NA				55579771		2200	4296	6496	SO:0001583	missense			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117	219437	219437		GPCR / Class A : Olfactory receptors	8350	protein-coding gene	gene with protein product					NA		Standard	NM_001004738	NM_001004738	NA	Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.829T>A	11.37:g.55579771T>A	ENSP00000335529:p.Phe277Ile	NA	B2RNK6|Q6IFD0	37	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	t	14.42	2.530406	0.45073	.	.	ENSG00000186117	ENST00000333973	T	0.00188	8.59	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000042	T	0.00384	0.0012	M	0.69185	2.1	0.25320	N	0.989127	D	0.76494	0.999	D	0.75020	0.985	T	0.45614	-0.9249	10	0.87932	D	0	-74.2804	3.6719	0.08277	0.1926:0.1051:0.0:0.7023	.	277	Q8NGL2	OR5L1_HUMAN	I	277	ENSP00000335529:F277I	ENSP00000335529:F277I	F	+	1	0	OR5L1	55336347	0.000000	0.05858	0.486000	0.27416	0.349000	0.29174	0.487000	0.22356	1.529000	0.49120	0.352000	0.21897	TTC	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391514.1		+	ENST00000333973.2	Missense_Mutation	SNP	11 : 55579771 - 55579771 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	308	4
PCDHB6	56130	broad.mit.edu	37	5	140530477	140530477	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:140530477G>A	ENST00000231136.1	+	1	639	c.639G>A	c.(637-639)gcG>gcA	p.A213A	PCDHB6_ENST00000543635.1_Silent_p.A77A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	213	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGATCGCGCTGGATGGCG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	57	56			NA	NA	5		NA											NA				140530477		2203	4300	6503	SO:0001819	synonymous_variant			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211	56130	56130		Cadherins / Protocadherins : Clustered	8691	other	protocadherin		606332			NA	10380929	Standard	NM_018939	NM_018939	NA	Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.639G>A	5.37:g.140530477G>A		NA		37	CCDS4248.1																																																																																			PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251818.2		+	ENST00000231136.1	Silent	SNP	5 : 140530477 - 140530477 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	308	90
PCDHGA10	56106	broad.mit.edu	37	5	140795043	140795043	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:140795043G>A	ENST00000398610.2	+	1	2301	c.2301G>A	c.(2299-2301)tcG>tcA	p.S767S	PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			protocadherin gamma subfamily A, 10	NA										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGGACTCGCGAAAGAGTC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	108	106			NA	NA	5		NA											NA				140795043		2203	4300	6503	SO:0001819	synonymous_variant				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846	56106	56106		Cadherins / Protocadherins : Clustered	8697	other	protocadherin		606297			NA	10380929	Standard	NM_018913	NM_018913	NA	Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.2301G>A	5.37:g.140795043G>A		NA		37	CCDS47292.1																																																																																			PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374747.1		+	ENST00000398610.2	Silent	SNP	5 : 140795043 - 140795043 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	934	167
PDE1C	5137	broad.mit.edu	37	7	32109952	32109952	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:32109952G>T	ENST00000396184.3	-	2	258	c.54C>A	c.(52-54)taC>taA	p.Y18*	PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000396182.2_Nonsense_Mutation_p.Y18*|PDE1C_ENST00000396191.1_Nonsense_Mutation_p.Y18*|PDE1C_ENST00000321453.7_Nonsense_Mutation_p.Y18*	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	18					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCGGTTGCAGGTATTTCAGAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	156	156			NA	NA	7		NA											NA				32109952		2203	4300	6503	SO:0001587	stop_gained			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	5137	5137	3.1.4.17	Phosphodiesterases	8776	protein-coding gene	gene with protein product		602987	phosphodiesterase 1C, calmodulin-dependent (70kD)		NA	8557689	Standard		XM_005249769	NA	Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396184.3:c.54C>A	7.37:g.32109952G>T	ENSP00000379487:p.Tyr18*	NA	B3KPC6|Q14124	37	CCDS5437.1	.	.	.	.	.	.	.	.	.	.	G	37	6.202601	0.97371	.	.	ENSG00000154678	ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182;ENST00000396189	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7686	0.51945	0.0813:0.0:0.9187:0.0	.	.	.	.	X	18	.	ENSP00000318105:Y18X	Y	-	3	2	PDE1C	32076477	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	5.373000	0.66162	2.706000	0.92434	0.655000	0.94253	TAC	PDE1C-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215077.3		-	ENST00000396184.3	Nonsense_Mutation	SNP	7 : 32109952 - 32109952 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	543	10
PKLR	5313	broad.mit.edu	37	1	155262971	155262971	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155262971C>T	ENST00000392414.3	-	9	1453	c.1340G>A	c.(1339-1341)gGc>gAc	p.G447D	PKLR_ENST00000342741.4_Missense_Mutation_p.G478D	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	478					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CCCTCACCGGCCAGTTGTGGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	72	75			NA	NA	1		NA											NA				155262971		2203	4300	6503	SO:0001583	missense			BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	5313	5313	2.7.1.40		9020	protein-coding gene	gene with protein product		609712			NA	3566732	Standard	NM_000298	NM_000298	NA	Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000392414.3:c.1340G>A	1.37:g.155262971C>T	ENSP00000376214:p.Gly447Asp	NA	P11973	37	CCDS44240.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527546	0.85706	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99842	-7.1;-7.1	4.54	4.54	0.55810	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.000000	0.85682	D	0.000000	D	0.99887	0.9946	H	0.98965	4.385	0.80722	D	1	P;P	0.42993	0.797;0.797	P;P	0.56474	0.799;0.799	D	0.95923	0.8932	10	0.87932	D	0	.	12.9735	0.58525	0.0:1.0:0.0:0.0	.	478;469	P30613;B1AVT1	KPYR_HUMAN;.	D	503;447;478;392	ENSP00000376214:G447D;ENSP00000339933:G478D	ENSP00000271946:G392D	G	-	2	0	PKLR	153529595	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.601000	0.82783	2.530000	0.85305	0.561000	0.74099	GGC	PKLR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087408.2		-	ENST00000392414.3	Missense_Mutation	SNP	1 : 155262971 - 155262971 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	352	9
PTCH1	5727	broad.mit.edu	37	9	98244279	98244279	+	Missense_Mutation	SNP	T	T	C			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr9:98244279T>C	ENST00000430669.2	-	5	1085	c.500A>G	c.(499-501)gAc>gGc	p.D167G	PTCH1_ENST00000331920.6_Missense_Mutation_p.D233G|PTCH1_ENST00000421141.1_Missense_Mutation_p.D82G|PTCH1_ENST00000418258.1_Missense_Mutation_p.D82G|PTCH1_ENST00000468211.2_Missense_Mutation_p.D167G|PTCH1_ENST00000375274.2_Missense_Mutation_p.D232G|PTCH1_ENST00000429896.2_Missense_Mutation_p.D82G|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000437951.1_Missense_Mutation_p.D167G			Q13635	PTC1_HUMAN	patched 1	233					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCAGAAGCAGTCCAAAGGTGT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	78	81			NA	NA	9		NA											NA				98244279		2203	4300	6503	SO:0001583	missense			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920	5727	5727			9585	protein-coding gene	gene with protein product		601309	patched (Drosophila) homolog, patched homolog (Drosophila), patched homolog 1 (Drosophila)	NBCCS, PTCH	NA	8658145	Standard	NM_000264	NM_001083603	NA	Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000430669.2:c.500A>G	9.37:g.98244279T>C	ENSP00000410287:p.Asp167Gly	NA	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	37	CCDS47996.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.172541	0.78452	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000553011;ENST00000551845;ENST00000547672;ENST00000546820;ENST00000468211;ENST00000551630	D;D;D;D;D;D;D;D;D;D;D;D;D	0.98958	-5.21;-5.13;-5.03;-5.03;-5.13;-5.03;-5.27;-3.3;-3.3;-3.3;-3.3;-3.67;-2.88	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	M	0.88310	2.945	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99305	1.0902	10	0.72032	D	0.01	-38.4377	16.4608	0.84044	0.0:0.0:0.0:1.0	.	167;232;233	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	G	233;167;82;82;167;82;232;82;82;82;82;167;82	ENSP00000332353:D233G;ENSP00000389744:D167G;ENSP00000399981:D82G;ENSP00000396135:D82G;ENSP00000410287:D167G;ENSP00000414823:D82G;ENSP00000364423:D232G;ENSP00000447797:D82G;ENSP00000447008:D82G;ENSP00000447878:D82G;ENSP00000448843:D82G;ENSP00000449745:D167G;ENSP00000450131:D82G	ENSP00000332353:D233G	D	-	2	0	PTCH1	97284100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.288000	0.76882	0.533000	0.62120	GAC	PTCH1-003	KNOWN	not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053231.2		-	ENST00000430669.2	Missense_Mutation	SNP	9 : 98244279 - 98244279 C PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	326	85
RANGAP1	5905	broad.mit.edu	37	22	41647029	41647029	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:41647029C>T	ENST00000455915.2	-	12	2934	c.1465G>A	c.(1465-1467)Gca>Aca	p.A489T	RANGAP1_ENST00000405486.1_Missense_Mutation_p.A489T|RANGAP1_ENST00000356244.3_Missense_Mutation_p.A489T|RANGAP1_ENST00000407260.4_Missense_Mutation_p.A434T			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	489					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTGCACTGCCATCCTCACA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													230	152	178			NA	NA	22		NA											NA				41647029		2203	4300	6503	SO:0001583	missense			X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401	5905	5905			9854	protein-coding gene	gene with protein product		602362	segregation distorter homolog (Drosophila)	SD	NA	7878053	Standard	NM_002883	NM_002883	NA	Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1465G>A	22.37:g.41647029C>T	ENSP00000401470:p.Ala489Thr	NA	Q96JJ2	37	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204016	0.79127	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	4.53	4.53	0.55603	Ran-GTPase activating protein 1, C-terminal (3);	0.112249	0.64402	D	0.000014	D	0.95771	0.8624	M	0.77820	2.39	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.96006	0.8997	10	0.54805	T	0.06	-10.6364	16.2705	0.82616	0.0:1.0:0.0:0.0	.	434;489	F8W7I9;P46060	.;RAGP1_HUMAN	T	489;489;489;489;434	ENSP00000385866:A489T;ENSP00000348577:A489T;ENSP00000401470:A489T;ENSP00000385354:A434T	ENSP00000348577:A489T	A	-	1	0	RANGAP1	39976975	0.990000	0.36364	0.526000	0.27913	0.875000	0.50365	2.947000	0.49058	2.084000	0.62774	0.555000	0.69702	GCA	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320606.1		-	ENST00000455915.2	Missense_Mutation	SNP	22 : 41647029 - 41647029 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	352	7
RBBP6	5930	broad.mit.edu	37	16	24580170	24580170	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:24580170G>T	ENST00000319715.4	+	17	2591	c.2159G>T	c.(2158-2160)aGc>aTc	p.S720I	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.S686I	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	720					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CGATCATTCAGCCGCTCACAT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	131	137			NA	NA	16		NA											NA				24580170		2197	4300	6497	SO:0001583	missense				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257	5930	5930			9889	protein-coding gene	gene with protein product	proliferation potential-related protein	600938	retinoblastoma-binding protein 6		NA	8595913, 16396680	Standard	NM_006910	NM_006910	NA	Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.2159G>T	16.37:g.24580170G>T	ENSP00000317872:p.Ser720Ile	NA	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497395	0.44455	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.25414	1.95;1.8	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000001	T	0.44603	0.1301	L	0.34521	1.04	0.40089	D	0.976239	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.31724	-0.9933	10	0.72032	D	0.01	-12.372	20.4581	0.99154	0.0:0.0:1.0:0.0	.	686;720	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	I	720;686	ENSP00000317872:S720I;ENSP00000316291:S686I	ENSP00000317872:S720I	S	+	2	0	RBBP6	24487671	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.911000	0.69939	2.835000	0.97688	0.650000	0.86243	AGC	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214067.2		+	ENST00000319715.4	Missense_Mutation	SNP	16 : 24580170 - 24580170 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	532	31
RBM12	10137	broad.mit.edu	37	20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317677.5_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	47	48			NA	NA	20		NA											NA				34241168		2199	4292	6491	SO:0001583	missense			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462	10137	10137		RNA binding motif (RRM) containing	9898	protein-coding gene	gene with protein product		607179			NA	11435693	Standard	NM_006047	NM_006047	NA	Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2077C>T	20.37:g.34241168G>A	ENSP00000363228:p.Pro693Ser	NA	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	37	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653504	0.96724	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.22336	1.96;1.96;1.96	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000018	T	0.27663	0.0680	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.02365	-1.1170	10	0.19590	T	0.45	-3.377	14.4866	0.67622	0.0:0.0:1.0:0.0	.	693	Q9NTZ6	RBM12_HUMAN	S	693;693;693;492	ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S	ENSP00000339879:P492S	P	-	1	0	RBM12	33704582	0.002000	0.14202	0.997000	0.53966	0.903000	0.53119	-0.160000	0.10041	2.528000	0.85240	0.563000	0.77884	CCC	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078894.1		-	ENST00000374114.3	Missense_Mutation	SNP	20 : 34241168 - 34241168 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	671	6
RMND5B	64777	broad.mit.edu	37	5	177574596	177574596	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:177574596G>A	ENST00000515098.1	+	10	1274	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	RMND5B_ENST00000542098.1_Missense_Mutation_p.R295Q|RMND5B_ENST00000313386.4_Missense_Mutation_p.R308Q			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	308										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTGAGCAGCGGCAGTGCACT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	87	90			NA	NA	5		NA											NA				177574596		2203	4300	6503	SO:0001583	missense			BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916	64777	64777			26181	protein-coding gene	gene with protein product	GID complex subunit 2 homolog B				NA	12975309	Standard	NM_022762	NM_022762	NA	Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.923G>A	5.37:g.177574596G>A	ENSP00000420875:p.Arg308Gln	NA	Q1HE27|Q6UVY7|Q9H6F6	37	CCDS4431.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360506	0.95877	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.78071	0.4226	M	0.71581	2.175	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.964;0.984;0.975	T	0.75897	-0.3155	9	0.38643	T	0.18	-25.4369	17.5078	0.87750	0.0:0.0:1.0:0.0	.	295;295;308	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	Q	308;308;295	.	ENSP00000320623:R308Q	R	+	2	0	RMND5B	177507202	1.000000	0.71417	0.998000	0.56505	0.786000	0.44442	9.602000	0.98312	2.724000	0.93272	0.563000	0.77884	CGG	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373542.1		+	ENST00000515098.1	Missense_Mutation	SNP	5 : 177574596 - 177574596 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	203	47
ROBO1	6091	broad.mit.edu	37	3	78666997	78666997	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:78666997G>T	ENST00000464233.1	-	27	4183	c.4070C>A	c.(4069-4071)tCc>tAc	p.S1357Y	ROBO1_ENST00000467549.1_Missense_Mutation_p.S1257Y|ROBO1_ENST00000495273.1_Missense_Mutation_p.S1312Y|ROBO1_ENST00000436010.2_Missense_Mutation_p.S1318Y	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1357					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCCAACACTGGAGGCAGGTGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	72	69			NA	NA	3		NA											NA				78666997		2002	4167	6169	SO:0001583	missense			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855	6091	6091		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	10249	protein-coding gene	gene with protein product		602430	roundabout (axon guidance receptor, Drosophila) homolog 1		NA	9458045, 9608531	Standard	NM_002941	NM_002941	NA	Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4070C>A	3.37:g.78666997G>T	ENSP00000420321:p.Ser1357Tyr	NA	D3DU36|Q7Z300|Q9BUS7	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730379	0.69074	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.72051	-0.4;-0.44;-0.47;-0.62	5.68	5.68	0.88126	.	0.101670	0.64402	D	0.000001	T	0.78375	0.4273	L	0.34521	1.04	0.80722	D	1	D;P;D;D;D	0.71674	0.997;0.956;0.998;0.988;0.996	D;P;D;P;P	0.80764	0.994;0.577;0.924;0.805;0.875	T	0.74836	-0.3529	9	.	.	.	.	20.1553	0.98111	0.0:0.0:1.0:0.0	.	1321;1357;1312;1257;1318	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	Y	1318;1312;1357;1312;1257;1361	ENSP00000406043:S1318Y;ENSP00000420321:S1357Y;ENSP00000420637:S1312Y;ENSP00000417992:S1257Y	.	S	-	2	0	ROBO1	78749687	1.000000	0.71417	0.992000	0.48379	0.310000	0.27922	9.813000	0.99286	2.838000	0.97847	0.591000	0.81541	TCC	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352610.1		-	ENST00000464233.1	Missense_Mutation	SNP	3 : 78666997 - 78666997 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	194	9
ROBO1	6091	broad.mit.edu	37	3	78666996	78666996	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:78666996G>A	ENST00000464233.1	-	27	4184	c.4071C>T	c.(4069-4071)tcC>tcT	p.S1357S	ROBO1_ENST00000467549.1_Silent_p.S1257S|ROBO1_ENST00000495273.1_Silent_p.S1312S|ROBO1_ENST00000436010.2_Silent_p.S1318S	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1357					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCCCAACACTGGAGGCAGGTG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	72	69			NA	NA	3		NA											NA				78666996		1999	4167	6166	SO:0001819	synonymous_variant			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855	6091	6091		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	10249	protein-coding gene	gene with protein product		602430	roundabout (axon guidance receptor, Drosophila) homolog 1		NA	9458045, 9608531	Standard	NM_002941	NM_002941	NA	Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4071C>T	3.37:g.78666996G>A		NA	D3DU36|Q7Z300|Q9BUS7	37	CCDS54611.1																																																																																			ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352610.1		-	ENST00000464233.1	Silent	SNP	3 : 78666996 - 78666996 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	226	10
RP1-170O19.20	0	broad.mit.edu	37	7	27203297	27203297	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:27203297C>G	ENST00000470747.4	-	3	621	c.264G>C	c.(262-264)agG>agC	p.R88S	HOXA9_ENST00000396345.1_3'UTR|HOXA9_ENST00000497089.1_5'UTR|RP1-170O19.20_ENST00000465941.1_5'UTR|HOXA9_ENST00000343483.6_Missense_Mutation_p.R248S						NA											NA						TCTTGACCTGCCTCTCGGTGA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	137	137			NA	NA	7		NA											NA				27203297		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000470747.4:c.264G>C	7.37:g.27203297C>G	ENSP00000421799:p.Arg88Ser	NA		37		.	.	.	.	.	.	.	.	.	.	C	19.70	3.876027	0.72180	.	.	ENSG00000078399;ENSG00000078399;ENSG00000078399;ENSG00000257184	ENST00000343483;ENST00000354032;ENST00000242050;ENST00000470747	D;D	0.96427	-4.01;-4.01	5.21	3.01	0.34805	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000002	D	0.96626	0.8899	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95419	0.8505	10	0.87932	D	0	.	4.5519	0.12116	0.0:0.5833:0.0:0.4167	.	248	P31269	HXA9_HUMAN	S	248;172;239;88	ENSP00000343619:R248S;ENSP00000421799:R88S	ENSP00000242050:R239S	R	-	3	2	RP1-170O19.20;HOXA9	27169822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.826000	0.48104	1.349000	0.45751	0.561000	0.74099	AGG	RP1-170O19.20-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358707.3		-	ENST00000470747.4	Missense_Mutation	SNP	7 : 27203297 - 27203297 G PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	572	26
SAMD14	201191	broad.mit.edu	37	17	48191617	48191617	+	Silent	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:48191617G>T	ENST00000330175.4	-	8	1193	c.876C>A	c.(874-876)ccC>ccA	p.P292P	SAMD14_ENST00000503131.1_Silent_p.P320P	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	292										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						AGGGCCCACTGGGGATCTTGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	52	53			NA	NA	17		NA											NA				48191617		2203	4300	6503	SO:0001819	synonymous_variant				CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100	201191	201191		Sterile alpha motif (SAM) domain containing	27312	protein-coding gene	gene with protein product					NA	8619474	Standard	NM_174920	NM_174920	NA	Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.876C>A	17.37:g.48191617G>T		NA	A5D8V1|Q8N2X0	37	CCDS58562.1																																																																																			SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366661.1		-	ENST00000330175.4	Silent	SNP	17 : 48191617 - 48191617 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	173	7
SEPHS2	22928	broad.mit.edu	37	16	30456111	30456111	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:30456111G>A	ENST00000478753.2	-	1	1391	c.938C>T	c.(937-939)gCg>gTg	p.A313V	SEPHS2_ENST00000500504.2_Missense_Mutation_p.A313V|SEPHS2_ENST00000542752.1_Missense_Mutation_p.A256V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	313					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ATCTGTGGCCGCATGGGCATT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(81;1142 1261 11202 24614 35697)							NA				0													98	91	93			NA	NA	16		NA											NA				30456111		1944	4143	6087	SO:0001583	missense			BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918	22928	22928			19686	protein-coding gene	gene with protein product		606218			NA	10608886	Standard	NM_012248	NM_012248	NA	Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.938C>T	16.37:g.30456111G>A	ENSP00000418669:p.Ala313Val	NA	Q9BUQ2	37		.	.	.	.	.	.	.	.	.	.	G	17.53	3.413384	0.62511	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.64991	-0.13;-0.13;-0.13	5.28	5.28	0.74379	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.76709	0.4025	H	0.94620	3.56	0.80722	D	1	P;P	0.49090	0.919;0.906	P;B	0.45343	0.477;0.2	D	0.84632	0.0690	10	0.87932	D	0	-10.0941	16.7892	0.85583	0.0:0.0:1.0:0.0	.	313;256	Q99611;F5H8F9	SPS2_HUMAN;.	V	313;256;264;313	ENSP00000418669:A313V;ENSP00000443601:A256V;ENSP00000426234:A313V	ENSP00000390233:A264V	A	-	2	0	SEPHS2	30363612	1.000000	0.71417	0.991000	0.47740	0.267000	0.26476	9.772000	0.98984	2.652000	0.90054	0.655000	0.94253	GCG	SEPHS2-001	KNOWN	basic|seleno	protein_coding	NA	protein_coding	OTTHUMT00000109640.11		-	ENST00000478753.2	Missense_Mutation	SNP	16 : 30456111 - 30456111 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	571	5
SFRP4	6424	broad.mit.edu	37	7	37956044	37956044	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:37956044G>A	ENST00000436072.2	-	1	473	c.96C>T	c.(94-96)tgC>tgT	p.C32C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	32	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCATGTGCCGGCACATAGGGA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	89	96			NA	NA	7		NA											NA				37956044		2203	4300	6503	SO:0001819	synonymous_variant			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483	6424	6424		Secreted frizzled-related proteins	10778	protein-coding gene	gene with protein product		606570			NA	10211996	Standard	NM_003014	NM_003014	NA	Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.96C>T	7.37:g.37956044G>A		NA	B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	37	CCDS5453.1																																																																																			SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000220017.2		-	ENST00000436072.2	Silent	SNP	7 : 37956044 - 37956044 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	308	5
SLC22A17	51310	broad.mit.edu	37	14	23816760	23816760	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:23816760G>A	ENST00000354772.3	-	8	1628	c.1125C>T	c.(1123-1125)acC>acT	p.T375T	SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397260.3_Silent_p.T264T|SLC22A17_ENST00000206544.8_Silent_p.T375T|SLC22A17_ENST00000397267.1_Silent_p.T375T	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	375					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AAGCAATGCCGGTAAGGGTCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,4406		0,0,2203	53	54	54		1125,1125	-5.4	0.9	14		54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC22A17	NM_016609.3,NM_020372.2	,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,	375/521,375/539	23816760	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096	51310	51310		Solute carriers	23095	protein-coding gene	gene with protein product	neutrophil gelatinase-associated lipocalin receptor	611461			NA	16377569	Standard	NM_020372	NM_016609	NA	Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000354772.3:c.1125C>T	14.37:g.23816760G>A		NA	A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	37	CCDS9594.2																																																																																			SLC22A17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071769.4		-	ENST00000354772.3	Silent	SNP	14 : 23816760 - 23816760 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	179	4
SLC25A6	293	broad.mit.edu	37	X	1508553	1508553	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:1508553C>T	ENST00000381401.5	-	2	893	c.179G>A	c.(178-180)cGc>cAc	p.R60H	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	60					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CTTGGGGATGCGGACAATGCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	169	176			NA	NA	X		NA											NA				1508553		2203	4296	6499	SO:0001583	missense			AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100	293	293		Pseudoautosomal regions / PAR1, Solute carriers	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3	NA		Standard	NM_001636	NM_001636	NA	Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.179G>A	X.37:g.1508553C>T	ENSP00000370808:p.Arg60His	NA	Q96C49	37	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	11.91	1.779028	0.31502	.	.	ENSG00000169100	ENST00000381401;ENST00000447786	T	0.79653	-1.29	1.69	0.758	0.18432	Mitochondrial carrier domain (2);	0.119084	0.30850	U	0.008748	T	0.75838	0.3904	M	0.74546	2.27	0.09310	N	1	P	0.48503	0.911	B	0.40534	0.332	T	0.69124	-0.5228	10	0.72032	D	0.01	.	8.0252	0.30434	0.0:0.8621:0.0:0.1379	.	60	P12236	ADT3_HUMAN	H	60	ENSP00000370808:R60H	ENSP00000370808:R60H	R	-	2	0	SLC25A6	1468553	0.998000	0.40836	0.656000	0.29637	0.231000	0.25187	5.923000	0.70045	0.027000	0.15297	0.165000	0.16767	CGC	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055596.1		-	ENST00000381401.5	Missense_Mutation	SNP	X : 1508553 - 1508553 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	479	5
SLMO2	51012	broad.mit.edu	37	20	57613612	57613612	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr20:57613612T>A	ENST00000355937.4	-	2	288	c.110A>T	c.(109-111)gAt>gTt	p.D37V	SLMO2_ENST00000371033.5_Missense_Mutation_p.D37V	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	37	PRELI/MSF1.									endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			GTCCAACACATCAACTCCAAC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	119	121			NA	NA	20		NA											NA				57613612		1937	4140	6077	SO:0001583	missense			AF151865	CCDS42893.1, CCDS58783.1	20q13.32	2008-10-22	2007-02-06	2007-02-06	ENSG00000101166	ENSG00000101166	51012	51012			15892	protein-coding gene	gene with protein product			chromosome 20 open reading frame 45	C20orf45	NA		Standard	NM_016045	NM_016045	NA	Approved	dJ543J19.5, PRELID3B	uc002yam.3	Q9Y3B1	OTTHUMG00000032856	ENST00000355937.4:c.110A>T	20.37:g.57613612T>A	ENSP00000348206:p.Asp37Val	NA	E1P5I8|Q9NUL0	37	CCDS42893.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560690	0.86335	.	.	ENSG00000101166	ENST00000355937;ENST00000371033	T;T	0.32515	1.45;1.45	5.36	5.36	0.76844	PRELI/MSF1 (2);	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.83275	0.936;0.996	T	0.81703	-0.0812	10	0.87932	D	0	-10.0953	14.8261	0.70113	0.0:0.0:0.0:1.0	.	37;37	Q5JX17;Q9Y3B1	.;SLMO2_HUMAN	V	37	ENSP00000348206:D37V;ENSP00000360072:D37V	ENSP00000348206:D37V	D	-	2	0	SLMO2	57047007	1.000000	0.71417	0.922000	0.36590	0.997000	0.91878	7.578000	0.82498	2.153000	0.67306	0.533000	0.62120	GAT	SLMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079897.2		-	ENST00000355937.4	Missense_Mutation	SNP	20 : 57613612 - 57613612 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	797	246
SNCAIP	9627	broad.mit.edu	37	5	121776408	121776408	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:121776408G>A	ENST00000261367.7	+	9	2950	c.1522G>A	c.(1522-1524)Gtt>Att	p.V508I	SNCAIP_ENST00000414317.2_Missense_Mutation_p.V63I|SNCAIP_ENST00000261368.8_Missense_Mutation_p.V461I|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000503116.2_Missense_Mutation_p.V508I|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379536.2_Missense_Mutation_p.V401I|SNCAIP_ENST00000379533.2_Missense_Mutation_p.V508I|SNCAIP_ENST00000379538.3_Missense_Mutation_p.V95I|SNCAIP_ENST00000542191.1_Missense_Mutation_p.V19I			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	461					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAACAGTGCCGTTCACGTAGC	0.428		NA											G	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0													149	141	143			NA	NA	5		NA											NA				121776408		2203	4300	6503	SO:0001583	missense			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692	9627	9627		Ankyrin repeat domain containing	11139	protein-coding gene	gene with protein product	synphilin	603779			NA	10319874	Standard		NM_001242935	NA	Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261367.7:c.1522G>A	5.37:g.121776408G>A	ENSP00000261367:p.Val508Ile	NA	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.95	2.689844	0.48097	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854;ENST00000503116	T;T;T;T;T;T;T;T;T	0.63913	-0.03;0.71;0.71;0.71;0.71;1.48;0.71;1.48;-0.07	5.23	5.23	0.72850	Ankyrin repeat-containing domain (4);	0.124143	0.53938	D	0.000052	T	0.66479	0.2793	N	0.13327	0.33	0.54753	D	0.999981	B;P;P;P;D;B;D;P;D	0.89917	0.381;0.947;0.924;0.853;0.999;0.236;1.0;0.953;1.0	B;P;B;B;D;B;D;B;D	0.70487	0.117;0.5;0.32;0.444;0.917;0.016;0.947;0.382;0.969	T	0.71031	-0.4710	10	0.54805	T	0.06	-17.0364	18.9919	0.92796	0.0:0.0:1.0:0.0	.	401;89;63;508;401;95;95;508;461	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-6;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;.;SNCAP_HUMAN	I	19;401;461;508;401;95;508;63;101;508	ENSP00000441681:V19I;ENSP00000422106:V401I;ENSP00000261368:V461I;ENSP00000368848:V508I;ENSP00000368851:V401I;ENSP00000368854:V95I;ENSP00000261367:V508I;ENSP00000394392:V63I;ENSP00000423199:V508I	ENSP00000261367:V508I	V	+	1	0	SNCAIP	121804307	1.000000	0.71417	0.159000	0.22649	0.060000	0.15804	9.178000	0.94855	2.721000	0.93114	0.655000	0.94253	GTT	SNCAIP-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000250889.2		+	ENST00000261367.7	Missense_Mutation	SNP	5 : 121776408 - 121776408 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	490	5
SORBS2	8470	broad.mit.edu	37	4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr4:186544317G>A	ENST00000437304.2	-	16	2259				SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.P752S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S	NM_001145673.1	NP_001139145.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	NA						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(153;41 2433 9491 36028)							NA				1	Substitution - Missense(1)	prostate(1)											141	161	154			NA	NA	4		NA											NA				186544317		2203	4300	6503	SO:0001627	intron_variant				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556	8470	8470			24098	protein-coding gene	gene with protein product	Arg/Abl interacting protein				NA	9211900, 9872452	Standard	NM_003603	NM_021069	NA	Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000437304.2:c.1676-3012C>T	4.37:g.186544317G>A		NA	A6NEK9|D3DP62|D3DP63|O60592|O60593|Q96EX0	37	CCDS47175.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620652	0.46736	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.41758	1.09;1.09;0.99;1.05	5.77	5.77	0.91146	.	0.051313	0.85682	D	0.000000	T	0.58424	0.2121	L	0.39633	1.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.51865	-0.8651	10	0.38643	T	0.18	-14.2624	19.982	0.97329	0.0:0.0:1.0:0.0	.	656;852;752	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	S	752;752;656;852	ENSP00000284776:P752S;ENSP00000411764:P752S;ENSP00000397482:P656S;ENSP00000347852:P852S	ENSP00000284776:P752S	P	-	1	0	SORBS2	186781311	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	9.869000	0.99810	2.737000	0.93849	0.561000	0.74099	CCG	SORBS2-009	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347952.2		-	ENST00000437304.2	Intron	SNP	4 : 186544317 - 186544317 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	1058	7
SP140	11262	broad.mit.edu	37	2	231174695	231174695	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:231174695C>T	ENST00000343805.6	+	21	2035	c.1935C>T	c.(1933-1935)tgC>tgT	p.C645C	SP140_ENST00000417495.3_Silent_p.C591C|SP140_ENST00000486687.2_Silent_p.C629C|SP140_ENST00000392045.3_Silent_p.C705C|SP140_ENST00000420434.3_Silent_p.C678C|SP140_ENST00000350136.5_Silent_p.C574C	NM_001278452.1	NP_001265381.1	Q13342	LY10_HUMAN	SP140 nuclear body protein	705	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C705C(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGTTCTGTTGCGACACTTGTT	0.512		NA											C	2	9e-04	0.002	0.0028	2184	NA	0.9995	,	,	NA	4e-04	NA	NA	NA	0.0011	0.8455	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				1	Substitution - coding silent(1)	large_intestine(1)						C		3,4367	4.2+/-10.8	0,3,2182	179	192	188		2115	-4.4	0	2		188	4,8584	3.7+/-12.6	0,4,4290	no	coding-synonymous	SP140	NM_007237.4		0,7,6472	TT,TC,CC	NA	0.0466,0.0686,0.054		705/868	231174695	7,12951	2185	4294	6479	SO:0001819	synonymous_variant			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263	11262	11262		Zinc fingers, PHD-type	17133	protein-coding gene	gene with protein product		608602			NA	8695863, 8910577, 12368356	Standard	NM_007237	NM_001005176	NA	Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000343805.6:c.1935C>T	2.37:g.231174695C>T		NA	Q13341|Q4ZG66|Q53TG1|Q92881|Q96TG3	37																																																																																				SP140-009	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338219.1		+	ENST00000343805.6	Silent	SNP	2 : 231174695 - 231174695 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	520	121
SPTA1	6708	broad.mit.edu	37	1	158612287	158612287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:158612287G>A	ENST00000368147.4	-	33	4831	c.4651C>T	c.(4651-4653)Cga>Tga	p.R1551*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCTCAGATCGGCCATCGACT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	91	91			NA	NA	1		NA											NA				158612287		1973	4162	6135	SO:0001587	stop_gained			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	6708	6708		EF-hand domain containing	11272	protein-coding gene	gene with protein product	elliptocytosis 2	182860	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		NA		Standard	NM_003126	NM_003126	NA	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4651C>T	1.37:g.158612287G>A	ENSP00000357129:p.Arg1551*	NA	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	44	11.051605	0.99508	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.26	3.36	0.38483	.	0.337334	0.16870	N	0.196178	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	6.5799	0.22588	0.083:0.0:0.4906:0.4264	.	.	.	.	X	1551	.	ENSP00000357129:R1551X	R	-	1	2	SPTA1	156878911	1.000000	0.71417	0.002000	0.10522	0.001000	0.01503	3.911000	0.56378	0.768000	0.33290	-0.136000	0.14681	CGA	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051851.3		-	ENST00000368147.4	Nonsense_Mutation	SNP	1 : 158612287 - 158612287 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	465	11
SRPRB	58477	broad.mit.edu	37	3	133535748	133535748	+	Missense_Mutation	SNP	T	T	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:133535748T>G	ENST00000466490.2	+	7	859	c.574T>G	c.(574-576)Tta>Gta	p.L192V		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	192						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						ATCAGCAAAGTTAATTCAACA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	104	102			NA	NA	3		NA											NA				133535748		2203	4299	6502	SO:0001583	missense			AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867	58477	58477			24085	protein-coding gene	gene with protein product					NA	7844142, 10859309	Standard		NM_021203	NA	Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.574T>G	3.37:g.133535748T>G	ENSP00000418401:p.Leu192Val	NA	Q6P595|Q8N2D8	37	CCDS3081.1	.	.	.	.	.	.	.	.	.	.	T	2.622	-0.288295	0.05605	.	.	ENSG00000144867	ENST00000466490	T	0.15487	2.42	5.48	1.59	0.23543	.	0.156463	0.41605	D	0.000858	T	0.07548	0.0190	N	0.21373	0.66	0.43091	D	0.994765	B	0.21452	0.056	B	0.25884	0.064	T	0.28933	-1.0028	10	0.02654	T	1	-8.2866	3.628	0.08120	0.1767:0.3842:0.0:0.4392	.	192	Q9Y5M8	SRPRB_HUMAN	V	192	ENSP00000418401:L192V	ENSP00000418401:L192V	L	+	1	2	SRPRB	135018438	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	0.797000	0.26999	0.389000	0.25086	-0.256000	0.11100	TTA	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357170.2		+	ENST00000466490.2	Missense_Mutation	SNP	3 : 133535748 - 133535748 G PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	771	7
SST	6750	broad.mit.edu	37	3	187387014	187387014	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:187387014C>T	ENST00000287641.3	-	2	297	c.190G>A	c.(190-192)Gag>Aag	p.E64K		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	64					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	GCATCATTCTCCGTCTGGTTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													243	224	230			NA	NA	3		NA											NA				187387014		2203	4300	6503	SO:0001583	missense				CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005	6750	6750		Endogenous ligands	11329	protein-coding gene	gene with protein product	somatostatin-14, somatostatin-28, prepro-somatostatin	182450			NA	6126875, 6142531	Standard	NM_001048	NM_001048	NA	Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.190G>A	3.37:g.187387014C>T	ENSP00000287641:p.Glu64Lys	NA	B2R5G3|P01166	37	CCDS3288.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696829	0.68386	.	.	ENSG00000157005	ENST00000287641	T	0.38401	1.14	5.51	4.64	0.57946	.	0.045481	0.85682	D	0.000000	T	0.44746	0.1308	M	0.82323	2.585	0.52099	D	0.999948	P	0.46784	0.884	B	0.41466	0.358	T	0.55897	-0.8068	10	0.87932	D	0	-17.0825	13.4703	0.61278	0.0:0.9249:0.0:0.0751	.	64	P61278	SMS_HUMAN	K	64	ENSP00000287641:E64K	ENSP00000287641:E64K	E	-	1	0	SST	188869708	1.000000	0.71417	0.995000	0.50966	0.898000	0.52572	4.650000	0.61440	1.334000	0.45468	0.305000	0.20034	GAG	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344278.1		-	ENST00000287641.3	Missense_Mutation	SNP	3 : 187387014 - 187387014 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	1270	204
STARD3NL	83930	broad.mit.edu	37	7	38256892	38256892	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:38256892C>G	ENST00000009041.7	+	6	796	c.539C>G	c.(538-540)gCa>gGa	p.A180G	STARD3NL_ENST00000544203.1_Missense_Mutation_p.A173G|STARD3NL_ENST00000396013.1_Missense_Mutation_p.A180G|STARD3NL_ENST00000434197.1_Missense_Mutation_p.A162G	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	180	MENTAL.					integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						CCTCAAGAAGCAGAAGAAGAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	127	130			NA	NA	7		NA											NA				38256892		2203	4300	6503	SO:0001583	missense			AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270	NA	83930			19169	protein-coding gene	gene with protein product		611759			NA	12393907	Standard		NM_032016	NA	Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.539C>G	7.37:g.38256892C>G	ENSP00000009041:p.Ala180Gly	NA		37	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124761	0.77436	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000429075	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.93	5.93	0.95920	MENTAL domain (2);	0.150508	0.64402	D	0.000016	T	0.67951	0.2948	M	0.75447	2.3	0.50467	D	0.999874	P;P	0.52692	0.955;0.955	P;P	0.60236	0.871;0.843	T	0.67730	-0.5595	10	0.56958	D	0.05	-9.1947	19.1254	0.93380	0.0:1.0:0.0:0.0	.	162;180	C9JKL2;O95772	.;MENTO_HUMAN	G	180;173;162;180;180;180	ENSP00000009041:A180G;ENSP00000439436:A173G;ENSP00000394000:A162G;ENSP00000379334:A180G;ENSP00000411933:A180G;ENSP00000402028:A180G	ENSP00000009041:A180G	A	+	2	0	STARD3NL	38223417	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.985000	0.49362	2.826000	0.97356	0.655000	0.94253	GCA	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226929.2		+	ENST00000009041.7	Missense_Mutation	SNP	7 : 38256892 - 38256892 G PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	444	7
STEAP3	55240	broad.mit.edu	37	2	120005741	120005741	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:120005741C>T	ENST00000354888.5	+	4	1483	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	STEAP3_ENST00000393110.2_Missense_Mutation_p.R337C|STEAP3_ENST00000450943.2_Missense_Mutation_p.R327C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R327C|STEAP3_ENST00000393106.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R327C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R327C|STEAP3-AS1_ENST00000454260.1_RNA	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	327	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCCGCTGCGCCGCGCCCACCG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	31	31			NA	NA	2		NA											NA				120005741		2145	4206	6351	SO:0001583	missense			AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107	55240	55240			24592	protein-coding gene	gene with protein product		609671			NA	12606722	Standard	NM_018234	NM_182915	NA	Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.979C>T	2.37:g.120005741C>T	ENSP00000346961:p.Arg327Cys	NA	A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	37	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619547	0.46736	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	D;D;D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	4.73	3.83	0.44106	Flavoprotein transmembrane component (1);	0.229211	0.38959	N	0.001514	D	0.94434	0.8209	M	0.78801	2.425	0.53005	D	0.999967	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.74023	0.982;0.969;0.745	D	0.94067	0.7332	9	.	.	.	-17.2643	13.0647	0.59025	0.1787:0.8213:0.0:0.0	.	327;337;327	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	C	327;327;327;337;327;327;327;327	ENSP00000376820:R327C;ENSP00000346961:R327C;ENSP00000396873:R327C;ENSP00000376822:R337C;ENSP00000376818:R327C;ENSP00000386510:R327C;ENSP00000376819:R327C;ENSP00000396214:R327C	.	R	+	1	0	STEAP3	119722211	1.000000	0.71417	0.975000	0.42487	0.152000	0.21847	1.719000	0.38011	1.150000	0.42419	0.561000	0.74099	CGC	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254193.1		+	ENST00000354888.5	Missense_Mutation	SNP	2 : 120005741 - 120005741 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	286	12
STX11	8676	broad.mit.edu	37	6	144507954	144507954	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:144507954C>T	ENST00000367568.4	+	2	373	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	64					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CGACGTGAAGCGGCTGGGAAA	0.622		NA							Familial Hemophagocytic Lymphohistiocytosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	34	35			NA	NA	6		NA											NA				144507954		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604	8676	8676			11429	protein-coding gene	gene with protein product		605014			NA	9553086	Standard		NM_003764	NA	Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.190C>T	6.37:g.144507954C>T	ENSP00000356540:p.Arg64Trp	NA	E1P598|O75378|O95148|Q5TCL6	37	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830098	0.50845	.	.	ENSG00000135604	ENST00000367568	T	0.18960	2.18	5.99	5.99	0.97316	t-SNARE (1);Syntaxin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	M	0.83603	2.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.41645	-0.9497	10	0.87932	D	0	-32.9952	15.6832	0.77388	0.1375:0.8624:0.0:0.0	.	64	O75558	STX11_HUMAN	W	64	ENSP00000356540:R64W	ENSP00000356540:R64W	R	+	1	2	STX11	144549647	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	2.859000	0.48364	2.840000	0.97914	0.655000	0.94253	CGG	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042544.1		+	ENST00000367568.4	Missense_Mutation	SNP	6 : 144507954 - 144507954 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	152	11
SUSD1	64420	broad.mit.edu	37	9	114904607	114904607	+	Silent	SNP	A	A	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr9:114904607A>G	ENST00000374270.3	-	5	871	c.699T>C	c.(697-699)caT>caC	p.H233H	SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374264.2_Silent_p.H233H|SUSD1_ENST00000374263.3_Silent_p.H233H	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	233	Sushi 1.					integral to membrane	calcium ion binding	p.H233H(1)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CACCTTGGCAATGTAATTTTG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											115	118	117			NA	NA	9		NA											NA				114904607		2203	4300	6503	SO:0001819	synonymous_variant			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868	64420	64420			25413	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_022486	NM_022486	NA	Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.699T>C	9.37:g.114904607A>G		NA	A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	37	CCDS6783.1	.	.	.	.	.	.	.	.	.	.	A	7.504	0.653217	0.14580	.	.	ENSG00000106868	ENST00000415074	.	.	.	5.66	0.0291	0.14161	.	.	.	.	.	T	0.44286	0.1286	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23726	-1.0180	4	.	.	.	-0.156	4.204	0.10480	0.3829:0.0:0.3733:0.2438	.	.	.	.	T	47	.	.	I	-	2	0	SUSD1	113944428	0.000000	0.05858	0.515000	0.27774	0.950000	0.60333	-0.799000	0.04560	0.126000	0.18424	0.528000	0.53228	ATT	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053668.3		-	ENST00000374270.3	Silent	SNP	9 : 114904607 - 114904607 G PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	800	219
SYT9	143425	broad.mit.edu	37	11	7437383	7437383	+	Silent	SNP	A	A	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:7437383A>G	ENST00000318881.6	+	4	1392	c.1155A>G	c.(1153-1155)acA>acG	p.T385T		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	385	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGGACATAACAGGAGCATCAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	104	106			NA	NA	11		NA											NA				7437383		2201	4296	6497	SO:0001819	synonymous_variant			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743	143425	143425		Synaptotagmins	19265	protein-coding gene	gene with protein product		613528			NA	11543631	Standard	NM_175733	NM_175733	NA	Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1155A>G	11.37:g.7437383A>G		NA		37	CCDS7778.1																																																																																			SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384483.1		+	ENST00000318881.6	Silent	SNP	11 : 7437383 - 7437383 G PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	427	81
TAS1R2	80834	broad.mit.edu	37	1	19181067	19181067	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:19181067G>A	ENST00000375371.3	-	3	918	c.897C>T	c.(895-897)atC>atT	p.I299I	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	299					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ACTCGGAGGCGATCCACACGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	54	55			NA	NA	1		NA											NA				19181067		2203	4300	6503	SO:0001819	synonymous_variant				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002	80834	80834		Taste receptors / Type 1, GPCR / Unclassified : Taste receptors	14905	protein-coding gene	gene with protein product		606226	G protein-coupled receptor 71	GPR71	NA		Standard		NM_152232	NA	Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.897C>T	1.37:g.19181067G>A		NA	Q5TZ19	37	CCDS187.1																																																																																			TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006953.1		-	ENST00000375371.3	Silent	SNP	1 : 19181067 - 19181067 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	153	38
TAS2R8	50836	broad.mit.edu	37	12	10959184	10959184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:10959184C>T	ENST00000240615.2	-	1	708	c.396G>A	c.(394-396)tgG>tgA	p.W132*		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	132					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCAGCAGGATCCAGTGCACCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	88	91			NA	NA	12		NA											NA				10959184		2203	4299	6502	SO:0001587	stop_gained			AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314	50836	50836		Taste receptors / Type 2, GPCR / Unclassified : Taste receptors	14915	protein-coding gene	gene with protein product		604794			NA	10761934, 10766242	Standard		NM_023918	NA	Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.396G>A	12.37:g.10959184C>T	ENSP00000240615:p.Trp132*	NA	Q4KN29|Q645Y2	37	CCDS8632.1	.	.	.	.	.	.	.	.	.	.	C	34	5.342008	0.95783	.	.	ENSG00000121314	ENST00000240615	.	.	.	4.47	0.811	0.18739	.	0.924044	0.08834	U	0.886839	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	4.9053	0.13795	0.1496:0.6025:0.147:0.1009	.	.	.	.	X	132	.	ENSP00000240615:W132X	W	-	3	0	TAS2R8	10850451	0.000000	0.05858	0.000000	0.03702	0.319000	0.28217	-0.151000	0.10175	0.280000	0.22209	0.557000	0.71058	TGG	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399932.1		-	ENST00000240615.2	Nonsense_Mutation	SNP	12 : 10959184 - 10959184 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	263	14
TCF20	6942	broad.mit.edu	37	22	42609709	42609709	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:42609709G>A	ENST00000359486.3	-	1	1739	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	TCF20_ENST00000335626.4_Missense_Mutation_p.R535W	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTAGTTGCCGCACTCTCTCG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	140	139			NA	NA	22		NA											NA				42609709		2203	4300	6503	SO:0001583	missense			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207	6942	6942			11631	protein-coding gene	gene with protein product	stromelysin-1 platelet-derived growth factor-responsive element binding protein	603107			NA	9730594, 10995766	Standard	NM_181492	NM_005650	NA	Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1603C>T	22.37:g.42609709G>A	ENSP00000352463:p.Arg535Trp	NA	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657916	0.47467	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.38401	1.14;1.14	6.17	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.38200	-0.9672	10	0.56958	D	0.05	-23.6904	13.0614	0.59010	0.0:0.0:0.2872:0.7128	.	535;535	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	W	535	ENSP00000352463:R535W;ENSP00000335561:R535W	ENSP00000335561:R535W	R	-	1	2	TCF20	40939653	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	2.364000	0.44187	0.574000	0.29417	0.655000	0.94253	CGG	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320531.1		-	ENST00000359486.3	Missense_Mutation	SNP	22 : 42609709 - 42609709 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	1070	6
THADA	63892	broad.mit.edu	37	2	43768407	43768407	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:43768407C>T	ENST00000405006.4	-	21	3506	c.3155G>A	c.(3154-3156)tGt>tAt	p.C1052Y	THADA_ENST00000405975.2_Missense_Mutation_p.C1052Y|THADA_ENST00000415080.2_Missense_Mutation_p.C762Y|THADA_ENST00000330266.7_Missense_Mutation_p.C762Y	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1052							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCTCCAACAACATACCAGCAC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													242	242	242			NA	NA	2		NA											NA				43768407		2018	4189	6207	SO:0001583	missense			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970	63892	63892			19217	protein-coding gene	gene with protein product		611800			NA	12063398, 11214970	Standard	NM_022065	NM_022065	NA	Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3155G>A	2.37:g.43768407C>T	ENSP00000385995:p.Cys1052Tyr	NA	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	37	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.17|18.17	3.564569|3.564569	0.65651|0.65651	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T;T|.	0.40476|.	1.03;1.03;1.03;1.03|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66519|0.66519	0.2797|0.2797	L|L	0.39085|0.39085	1.19|1.19	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D;D|.	0.89917|.	0.998;1.0;0.997;1.0|.	D;D;D;D|.	0.91635|.	0.991;0.999;0.988;0.999|.	T|T	0.60682|0.60682	-0.7215|-0.7215	10|5	0.87932|.	D|.	0|.	.|.	19.7706|19.7706	0.96363|0.96363	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	762;1053;762;1052|.	Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6|.	.;.;.;THADA_HUMAN|.	Y|I	762;1052;1053;762;1052|366	ENSP00000331105:C762Y;ENSP00000386088:C1052Y;ENSP00000416048:C762Y;ENSP00000385995:C1052Y|.	ENSP00000331105:C762Y|.	C|V	-|-	2|1	0|0	THADA|THADA	43621911|43621911	1.000000|1.000000	0.71417|0.71417	0.869000|0.869000	0.34112|0.34112	0.998000|0.998000	0.95712|0.95712	6.179000|6.179000	0.71974|0.71974	2.697000|2.697000	0.92050|0.92050	0.655000|0.655000	0.94253|0.94253	TGT|GTT	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326070.3		-	ENST00000405006.4	Missense_Mutation	SNP	2 : 43768407 - 43768407 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	967	260
TMEM45B	120224	broad.mit.edu	37	11	129722430	129722430	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:129722430G>A	ENST00000524567.1	+	2	334	c.53G>A	c.(52-54)gGg>gAg	p.G18E	TMEM45B_ENST00000281441.3_Missense_Mutation_p.G18E			Q96B21	TM45B_HUMAN	transmembrane protein 45B	18						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CTGATCATTGGGCTGTGTTGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	109	115			NA	NA	11		NA											NA				129722430		2201	4297	6498	SO:0001583	missense			AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715	120224	120224			25194	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138788	NM_138788	NA	Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.53G>A	11.37:g.129722430G>A	ENSP00000436293:p.Gly18Glu	NA	A8K2L8	37	CCDS8482.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632180	0.87660	.	.	ENSG00000151715	ENST00000281441;ENST00000524567	T;T	0.61980	0.06;0.06	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86602	0.1867	10	0.87932	D	0	-16.7256	18.2812	0.90098	0.0:0.0:1.0:0.0	.	18	Q96B21	TM45B_HUMAN	E	18	ENSP00000281441:G18E;ENSP00000436293:G18E	ENSP00000281441:G18E	G	+	2	0	TMEM45B	129227640	1.000000	0.71417	0.823000	0.32752	0.573000	0.36030	9.317000	0.96327	2.653000	0.90120	0.655000	0.94253	GGG	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386062.1		+	ENST00000524567.1	Missense_Mutation	SNP	11 : 129722430 - 129722430 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	563	158
TNXB	7148	broad.mit.edu	37	6	32017099	32017099	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:32017099G>A	ENST00000375244.3	-	28	9906	c.9705C>T	c.(9703-9705)taC>taT	p.Y3235Y	TNXB_ENST00000375247.2_Silent_p.Y3233Y			P22105	TENX_HUMAN	tenascin XB	3280	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGTGGAGGCCGTACAGATGCA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	45	44			NA	NA	6		NA											NA				32017099		1278	2541	3819	SO:0001819	synonymous_variant			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477	7148	7148		Fibrinogen C domain containing, Fibronectin type III domain containing	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2	NA	8530023	Standard	NM_019105	NM_019105	NA	Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9705C>T	6.37:g.32017099G>A		NA	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	37																																																																																				TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000268927.2		-	ENST00000375244.3	Silent	SNP	6 : 32017099 - 32017099 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	339	11
TP53	7157	broad.mit.edu	37	17	7578180	7578190	+	Frame_Shift_Del	DEL	AGGCGGCTCAT	AGGCGGCTCAT	-	rs121912666		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	AGGCGGCTCAT	AGGCGGCTCAT	-	-	AGGCGGCTCAT	AGGCGGCTCAT	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:7578180_7578190delAGGCGGCTCAT	ENST00000420246.2	-	6	791_801	c.659_669delATGAGCCGCCT	c.(658-669)tatgagccgcctfs	p.YEPP220fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.YEPP220fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.E221*(14)|p.Y220S(12)|p.?(12)|p.0?(8)|p.P222P(5)|p.P222L(5)|p.P223P(4)|p.P223L(4)|p.E128*(3)|p.Y220*(3)|p.P223fs*1(3)|p.E221fs*4(3)|p.P222T(3)|p.E221E(2)|p.E221G(2)|p.E221fs*26(2)|p.P223H(2)|p.E221D(2)|p.P222S(2)|p.E221K(2)|p.P223R(1)|p.P223S(1)|p.P222fs*24(1)|p.P223A(1)|p.P223fs*24(1)|p.Y127S(1)|p.Y220_P223delYEPP(1)|p.P222Q(1)|p.P130fs*1(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)|p.D208fs*1(1)|p.E221fs*2(1)|p.Y220fs*25(1)|p.V218_E221delVPYE(1)|p.P222A(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.P222fs*25(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)		ACCAGACCTCAGGCGGCTCATAGGGCACCAC	0.55		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	418	Substitution - Missense(342)|Substitution - Nonsense(20)|Deletion - Frameshift(15)|Unknown(12)|Substitution - coding silent(11)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)	ovary(64)|breast(58)|upper_aerodigestive_tract(50)|lung(44)|urinary_tract(25)|large_intestine(23)|oesophagus(20)|stomach(19)|haematopoietic_and_lymphoid_tissue(19)|central_nervous_system(18)|liver(18)|endometrium(14)|soft_tissue(10)|biliary_tract(7)|skin(6)|prostate(5)|bone(5)|pancreas(4)|peritoneum(2)|thyroid(2)|vulva(1)|meninges(1)|salivary_gland(1)|small_intestine(1)|thymus(1)	GRCh37	CM015378|CM951227	TP53	M	rs121912666						NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_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.659_669delATGAGCCGCCT	17.37:g.7578180_7578190delAGGCGGCTCAT	ENSP00000391127:p.Tyr220fs	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																																																																																			TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Frame_Shift_Del	DEL	17 : 7578180 - 7578190 - PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	110	18
TRPC4	7223	broad.mit.edu	37	13	38211315	38211315	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:38211315C>G	ENST00000379705.3	-	11	3516	c.2659G>C	c.(2659-2661)Gaa>Caa	p.E887Q	TRPC4_ENST00000358477.2_Missense_Mutation_p.E803Q|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.E714Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.E738Q|TRPC4_ENST00000379679.1_Missense_Mutation_p.E714Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.E746Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.E892Q|TRPC4_ENST00000447043.1_Missense_Mutation_p.E746Q			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	887	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CCTCGAGATTCCAGTTGAATA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	91	93			NA	NA	13		NA											NA				38211315		2203	4300	6503	SO:0001583	missense			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107	7223	7223		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	12336	protein-coding gene	gene with protein product		603651			NA	8646775, 16382100	Standard	NM_003306	NM_016179	NA	Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2659G>C	13.37:g.38211315C>G	ENSP00000369027:p.Glu887Gln	NA	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764029	0.69878	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T	0.75938	-0.47;-0.47;-0.29;-0.29;-0.65;-0.63;-0.98;-0.65	5.3	5.3	0.74995	.	2.243490	0.01788	N	0.032140	T	0.81654	0.4868	N	0.19112	0.55	0.80722	D	1	B;D;P;B;D;B	0.69078	0.435;0.989;0.908;0.264;0.997;0.013	B;D;D;B;D;B	0.78314	0.093;0.979;0.922;0.082;0.991;0.005	T	0.67526	-0.5648	10	0.59425	D	0.04	-18.9881	14.8849	0.70560	0.0:0.8568:0.1431:0.0	.	746;738;892;714;803;887	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	Q	887;892;714;714;746;803;738;746	ENSP00000369027:E887Q;ENSP00000369003:E892Q;ENSP00000342580:E714Q;ENSP00000369001:E714Q;ENSP00000348025:E746Q;ENSP00000351264:E803Q;ENSP00000368995:E738Q;ENSP00000414316:E746Q	ENSP00000342580:E714Q	E	-	1	0	TRPC4	37109315	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	4.328000	0.59253	2.618000	0.88619	0.563000	0.77884	GAA	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044574.2		-	ENST00000379705.3	Missense_Mutation	SNP	13 : 38211315 - 38211315 G PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	404	105
UNC79	57578	broad.mit.edu	37	14	93954015	93954015	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:93954015C>T	ENST00000553484.1	+	5	780	c.626C>T	c.(625-627)tCc>tTc	p.S209F	UNC79_ENST00000555664.1_Missense_Mutation_p.S209F|UNC79_ENST00000393151.2_Missense_Mutation_p.S209F|UNC79_ENST00000256339.4_Missense_Mutation_p.S32F			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	209						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCAGTGGGCTCCTCAAGGAGA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	121	124			NA	NA	14		NA											NA				93954015		2203	4300	6503	SO:0001583	missense			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958	57578	57578			19966	protein-coding gene	gene with protein product			KIAA1409	KIAA1409	NA	20714347, 21040849	Standard	XM_028395	NM_020818	NA	Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000553484.1:c.626C>T	14.37:g.93954015C>T	ENSP00000451360:p.Ser209Phe	NA	Q6ZUT7	37		.	.	.	.	.	.	.	.	.	.	C	19.75	3.885344	0.72410	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.25606	0.0623	L	0.36672	1.1	0.58432	D	0.999999	P;P	0.49090	0.919;0.919	P;P	0.45712	0.491;0.491	T	0.01159	-1.1433	10	0.59425	D	0.04	-9.7376	19.2622	0.93973	0.0:1.0:0.0:0.0	.	209;209	C9JQL1;Q9P2D8	.;UNC79_HUMAN	F	32;209;209;209;209	ENSP00000256339:S32F;ENSP00000450868:S209F;ENSP00000451360:S209F;ENSP00000376858:S209F	ENSP00000256339:S32F	S	+	2	0	KIAA1409	93023768	1.000000	0.71417	0.981000	0.43875	0.592000	0.36648	7.541000	0.82084	2.564000	0.86499	0.591000	0.81541	TCC	UNC79-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000074289.4		+	ENST00000553484.1	Missense_Mutation	SNP	14 : 93954015 - 93954015 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	458	20
USP37	57695	broad.mit.edu	37	2	219414540	219414540	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:219414540C>A	ENST00000415516.1	-	5	633	c.205G>T	c.(205-207)Gac>Tac	p.D69Y	USP37_ENST00000258399.3_Missense_Mutation_p.D141Y|USP37_ENST00000338465.5_Missense_Mutation_p.D141Y|USP37_ENST00000454775.1_Missense_Mutation_p.D141Y|USP37_ENST00000418019.1_Missense_Mutation_p.D141Y			Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	141					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		ACCTGATTGTCTGAGTAAGAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	108	107			NA	NA	2		NA											NA				219414540		2203	4300	6503	SO:0001583	missense			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913	57695	57695		Ubiquitin-specific peptidases	20063	protein-coding gene	gene with protein product			ubiquitin specific protease 37		NA	12838346	Standard	NM_020935	NM_020935	NA	Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000415516.1:c.205G>T	2.37:g.219414540C>A	ENSP00000400902:p.Asp69Tyr	NA	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	37		.	.	.	.	.	.	.	.	.	.	C	16.68	3.191379	0.58017	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019;ENST00000338465	T;T;T;T;T	0.49139	0.92;0.92;0.92;0.92;0.79	5.03	5.03	0.67393	.	0.164432	0.53938	D	0.000059	T	0.44787	0.1310	N	0.08118	0	0.45354	D	0.998346	D;P;P	0.59767	0.986;0.904;0.845	P;P;B	0.57152	0.814;0.542;0.254	T	0.55147	-0.8186	10	0.66056	D	0.02	-13.609	16.7819	0.85565	0.0:1.0:0.0:0.0	.	141;69;141	Q86W68;Q86T82-2;Q86T82	.;.;UBP37_HUMAN	Y	141;141;69;141;141	ENSP00000258399:D141Y;ENSP00000393662:D141Y;ENSP00000400902:D69Y;ENSP00000396585:D141Y;ENSP00000345043:D141Y	ENSP00000258399:D141Y	D	-	1	0	USP37	219122784	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.725000	0.61979	2.640000	0.89533	0.579000	0.79373	GAC	USP37-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338136.2		-	ENST00000415516.1	Missense_Mutation	SNP	2 : 219414540 - 219414540 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	276	56
WDR33	55339	broad.mit.edu	37	2	128466262	128466262	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:128466262C>T	ENST00000322313.4	-	21	3928	c.3770G>A	c.(3769-3771)cGa>cAa	p.R1257Q		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1257					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TTTGCCTCCTCGGTCTTCAGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	126	126			NA	NA	2		NA											NA				128466262		2203	4300	6503	SO:0001583	missense				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709	55339	55339		WD repeat domain containing	25651	protein-coding gene	gene with protein product					NA	11162572	Standard	NM_018383	NM_001006622	NA	Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3770G>A	2.37:g.128466262C>T	ENSP00000325377:p.Arg1257Gln	NA	Q05DP8|Q53FG9|Q587J1|Q9NUL1	37	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759078	0.89843	.	.	ENSG00000136709	ENST00000322313	D	0.90324	-2.65	5.04	5.04	0.67666	.	0.077936	0.51477	D	0.000094	T	0.78496	0.4292	N	0.14661	0.345	0.80722	D	1	P	0.48998	0.918	B	0.32533	0.147	T	0.81357	-0.0969	10	0.48119	T	0.1	-9.4874	11.5723	0.50841	0.0:0.8202:0.1798:0.0	.	1257	Q9C0J8	WDR33_HUMAN	Q	1257	ENSP00000325377:R1257Q	ENSP00000325377:R1257Q	R	-	2	0	WDR33	128182732	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.410000	0.44592	2.640000	0.89533	0.655000	0.94253	CGA	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331141.2		-	ENST00000322313.4	Missense_Mutation	SNP	2 : 128466262 - 128466262 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	585	166
WDR63	126820	broad.mit.edu	37	1	85575766	85575766	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:85575766C>T	ENST00000294664.6	+	16	1914	c.1734C>T	c.(1732-1734)caC>caT	p.H578H	WDR63_ENST00000326813.8_Silent_p.H539H|WDR63_ENST00000370596.1_Silent_p.H539H	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	578										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GTTTAGACCACTGTCCAACCA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	124	125			NA	NA	1		NA											NA				85575766		2203	4300	6503	SO:0001819	synonymous_variant				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643	126820	126820		WD repeat domain containing	30711	protein-coding gene	gene with protein product					NA	21953912	Standard	NM_145172	XM_005270438	NA	Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1734C>T	1.37:g.85575766C>T		NA	A8K988|Q96L72|Q96NU4	37	CCDS702.1																																																																																			WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027565.2		+	ENST00000294664.6	Silent	SNP	1 : 85575766 - 85575766 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	453	163
XIRP2	129446	broad.mit.edu	37	2	168100148	168100148	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:168100148G>A	ENST00000409195.1	+	9	2335	c.2246G>A	c.(2245-2247)gGc>gAc	p.G749D	XIRP2_ENST00000409273.1_Missense_Mutation_p.G527D|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G749D	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	574					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGGTTCGGGCCAAATGCTG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	60	61			NA	NA	2		NA											NA				168100148		1856	4088	5944	SO:0001583	missense			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092	129446	129446			14303	protein-coding gene	gene with protein product	myomaxin	609778	cardiomyopathy associated 3	CMYA3	NA	17046827, 12203715, 15454575	Standard	NM_152381	NM_001079810	NA	Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2246G>A	2.37:g.168100148G>A	ENSP00000386840:p.Gly749Asp	NA	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680470	0.68042	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.28666	1.65;1.65;1.6	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.63260	-0.6677	10	0.56958	D	0.05	-15.5671	19.9164	0.97064	0.0:0.0:1.0:0.0	.	574;574;527	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	D	749;749;527	ENSP00000386840:G749D;ENSP00000295237:G749D;ENSP00000387255:G527D	ENSP00000295237:G749D	G	+	2	0	XIRP2	167808394	1.000000	0.71417	0.766000	0.31476	0.867000	0.49689	9.106000	0.94253	2.810000	0.96702	0.650000	0.86243	GGC	XIRP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333547.1		+	ENST00000409195.1	Missense_Mutation	SNP	2 : 168100148 - 168100148 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	339	5
ZCCHC9	84240	broad.mit.edu	37	5	80608439	80608439	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:80608439G>A	ENST00000254037.2	+	5	3929	c.774G>A	c.(772-774)ccG>ccA	p.P258P	ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000380199.5_Silent_p.P258P|ZCCHC9_ENST00000407610.3_Silent_p.P258P|ZCCHC9_ENST00000438268.2_Silent_p.P258P			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	258							nucleic acid binding|zinc ion binding	p.P258P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TACCTAAACCGCAAAAACCCA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	large_intestine(1)|lung(1)											96	91	92			NA	NA	5		NA											NA				80608439		2203	4300	6503	SO:0001819	synonymous_variant			BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732	84240	84240		Zinc fingers, CCHC domain containing, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	25424	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 41				NA	12477932	Standard	NM_032280	NM_032280	NA	Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.774G>A	5.37:g.80608439G>A		NA	B2RAE7|Q9H027	37	CCDS4054.1																																																																																			ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239213.1		+	ENST00000254037.2	Silent	SNP	5 : 80608439 - 80608439 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	455	5
ZFP36L1	677	broad.mit.edu	37	14	69256429	69256429	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:69256429G>A	ENST00000555997.1	-	0	1041				ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R280W|ZFP36L1_ENST00000439696.2_Missense_Mutation_p.R280W			Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	NA					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GACATGGGCCGGAAGAGGAAG	0.632		NA									OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	64	60			NA	NA	14		NA											NA				69256429		2203	4300	6503	SO:0001624	3_prime_UTR_variant			X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650	677	677		RING-type (C3HC4) zinc fingers	1107	protein-coding gene	gene with protein product		601064	zinc finger protein, C3H type, 36-like 1, zinc finger protein 36, C3H type-like 1	BRF1	NA	8024689	Standard		NM_004926	NA	Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000555997.1:c.*776C>T	14.37:g.69256429G>A		1113	Q13851	37		.	.	.	.	.	.	.	.	.	.	G	16.23	3.065008	0.55432	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246	T;T	0.36157	1.27;1.27	4.38	2.55	0.30701	.	0.000000	0.85682	D	0.000000	T	0.48978	0.1530	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.38045	-0.9679	10	0.39692	T	0.17	-6.8806	5.803	0.18424	0.1757:0.0:0.6325:0.1918	.	280	Q07352	TISB_HUMAN	W	280;280;263	ENSP00000388402:R280W;ENSP00000337386:R280W	ENSP00000337386:R280W	R	-	1	2	ZFP36L1	68326182	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.012000	0.49575	0.487000	0.27698	0.591000	0.81541	CGG	ZFP36L1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000413226.1		-	ENST00000555997.1	3'UTR	SNP	14 : 69256429 - 69256429 A PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	571	6
ZNRF3	84133	broad.mit.edu	37	22	29445400	29445400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:29445400C>T	ENST00000544604.2	+	8	1406	c.1231C>T	c.(1231-1233)Cag>Tag	p.Q411*	ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.Q311*	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	411						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CTATTCCCCGCAGACCCCCGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	44	41			NA	NA	22		NA											NA				29445400		2147	4239	6386	SO:0001587	stop_gained			AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579	84133	84133		RING-type (C3HC4) zinc fingers	18126	protein-coding gene	gene with protein product		612062			NA	10574461	Standard	XM_290972	NM_032173	NA	Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1231C>T	22.37:g.29445400C>T	ENSP00000443824:p.Gln411*	NA	Q6ICH1|Q6NTF8|Q8WU18	37	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353092	0.95830	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	.	.	.	5.53	5.53	0.82687	.	0.307718	0.36932	N	0.002329	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-2.0863	18.456	0.90721	0.0:1.0:0.0:0.0	.	.	.	.	X	411;311;118;311;311	.	ENSP00000328614:Q311X	Q	+	1	0	ZNRF3	27775400	1.000000	0.71417	0.851000	0.33527	0.570000	0.35934	5.647000	0.67923	2.593000	0.87608	0.655000	0.94253	CAG	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320943.2		+	ENST00000544604.2	Nonsense_Mutation	SNP	22 : 29445400 - 29445400 T PAAD-TCGA-F2-A8YN-Tumor-SM-5PNP3	219	58
