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
ACIN1	22985	broad.mit.edu	37	14	23531399	23531399	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:23531399G>A	ENST00000262710.1	-	16	3578	c.3251C>T	c.(3250-3252)gCt>gTt	p.A1084V	ACIN1_ENST00000357481.2_Missense_Mutation_p.A326V|ACIN1_ENST00000557515.1_Missense_Mutation_p.A325V|ACIN1_ENST00000338631.6_Missense_Mutation_p.A357V|ACIN1_ENST00000457657.1_Missense_Mutation_p.A1044V|ACIN1_ENST00000555053.1_Missense_Mutation_p.A1071V|ACIN1_ENST00000397341.3_Missense_Mutation_p.A326V|ACIN1_ENST00000605057.1_Missense_Mutation_p.A1026V	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1084					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGCATAGTCAGCACAAAGGAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	112	111			NA	NA	14		NA											NA				23531399		2203	4300	6503	SO:0001583	missense			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813	22985	22985			17066	protein-coding gene	gene with protein product	functional spliceosome-associated protein 152	604562	apoptotic chromatin condensation inducer in the nucleus	ACINUS	NA	9734811, 10490026	Standard	NM_014977	NM_014977	NA	Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3251C>T	14.37:g.23531399G>A	ENSP00000262710:p.Ala1084Val	NA	D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	9.790	1.177752	0.21787	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21	5.19	5.19	0.71726	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.38720	N	0.001589	T	0.04407	0.0121	N	0.00289	-1.7	0.44388	D	0.997291	B;B;B;B;B	0.27013	0.137;0.166;0.084;0.111;0.054	B;B;B;B;B	0.35859	0.135;0.212;0.064;0.016;0.011	T	0.41610	-0.9499	10	0.02654	T	1	-9.2231	11.4006	0.49868	0.0848:0.0:0.9152:0.0	.	1071;1084;1044;357;326	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	V	325;357;326;1084;1044;326;1071	ENSP00000451138:A325V;ENSP00000345541:A357V;ENSP00000350073:A326V;ENSP00000262710:A1084V;ENSP00000405677:A1044V;ENSP00000380502:A326V;ENSP00000451328:A1071V	ENSP00000262710:A1084V	A	-	2	0	ACIN1	22601239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.835000	0.62781	2.578000	0.87016	0.563000	0.77884	GCT	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071707.3		-	ENST00000262710.1	Missense_Mutation	SNP	14 : 23531399 - 23531399 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	601	5
ACRC	93953	broad.mit.edu	37	X	70823926	70823926	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:70823926G>A	ENST00000373695.1	+	7	1336	c.799G>A	c.(799-801)Gac>Aac	p.D267N	ACRC_ENST00000373696.3_Missense_Mutation_p.D267N			Q96QF7	ACRC_HUMAN	acidic repeat containing	267	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGCTCCCGACGACAGCAGTGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	36	35			NA	NA	X		NA											NA				70823926		2152	4171	6323	SO:0001583	missense			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174	93953	93953			15805	protein-coding gene	gene with protein product		300369			NA		Standard		NM_052957	NA	Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.799G>A	X.37:g.70823926G>A	ENSP00000362799:p.Asp267Asn	NA	B9EG62	37	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	8.926	0.962358	0.18583	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.31769	1.48;1.48	0.14	0.14	0.14804	.	.	.	.	.	T	0.11707	0.0285	N	0.19112	0.55	0.09310	N	1	D	0.52996	0.957	B	0.29077	0.098	T	0.22977	-1.0201	9	0.66056	D	0.02	.	2.9227	0.05774	2.0E-4:2.0E-4:0.5081:0.4915	.	267	Q96QF7	ACRC_HUMAN	N	267	ENSP00000362800:D267N;ENSP00000362799:D267N	ENSP00000362799:D267N	D	+	1	0	ACRC	70740651	0.000000	0.05858	0.017000	0.16124	0.017000	0.09413	0.002000	0.13061	0.168000	0.19655	0.169000	0.16792	GAC	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000081856.1		+	ENST00000373695.1	Missense_Mutation	SNP	X : 70823926 - 70823926 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	1193	12
AGXT	189	broad.mit.edu	37	2	241817502	241817502	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:241817502G>A	ENST00000307503.3	+	10	1393	c.1006G>A	c.(1006-1008)Gtc>Atc	p.V336I		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	336			V -> D (in HP1).		glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	p.V336I(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GAGAGACATCGTCAGCTACGT	0.617		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)											58	51	53			NA	NA	2		NA											NA				241817502		2203	4300	6503	SO:0001583	missense			D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	189	189	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	oxalosis I, primary hyperoxaluria type 1, L-alanine: glyoxylate aminotransferase 1, serine:pyruvate aminotransferase, glycolicaciduria	604285		SPAT	NA	2039493, 2045108	Standard	NM_000030	NM_000030	NA	Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.1006G>A	2.37:g.241817502G>A	ENSP00000302620:p.Val336Ile	NA	Q53QU6	37	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	G	3.824	-0.037151	0.07497	.	.	ENSG00000172482	ENST00000307503	D	0.93547	-3.24	4.02	1.11	0.20524	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.923809	0.09133	N	0.844131	D	0.86460	0.5938	L	0.41573	1.285	0.09310	N	1	B;B	0.32338	0.365;0.109	B;B	0.22386	0.039;0.018	T	0.72487	-0.4278	10	0.19147	T	0.46	-28.2281	6.537	0.22359	0.4922:0.0:0.5077:0.0	.	214;336	Q9UJX1;P21549	.;SPYA_HUMAN	I	336	ENSP00000302620:V336I	ENSP00000302620:V336I	V	+	1	0	AGXT	241466175	0.000000	0.05858	0.445000	0.26908	0.097000	0.18754	0.572000	0.23684	0.294000	0.22547	0.563000	0.77884	GTC	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257186.1		+	ENST00000307503.3	Missense_Mutation	SNP	2 : 241817502 - 241817502 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	105	54
ANGPTL5	253935	broad.mit.edu	37	11	101773403	101773403	+	Silent	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:101773403T>C	ENST00000334289.3	-	6	1084	c.489A>G	c.(487-489)acA>acG	p.T163T		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	163	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		AACCACTCGGTGTTTTGGTGA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	127	125			NA	NA	11		NA											NA				101773403		2203	4299	6502	SO:0001819	synonymous_variant			BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151	253935	253935		Fibrinogen C domain containing	19705	protein-coding gene	gene with protein product		607666			NA	12624729	Standard	NM_178127	NM_178127	NA	Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.489A>G	11.37:g.101773403T>C		NA	A8K658|Q86VR9	37	CCDS8312.1																																																																																			ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394138.1		-	ENST00000334289.3	Silent	SNP	11 : 101773403 - 101773403 C PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	418	136
ANKRD34A	284615	broad.mit.edu	37	1	145474036	145474036	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:145474036C>T	ENST00000323397.4	+	4	2001	c.708C>T	c.(706-708)cgC>cgT	p.R236R		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	236	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACCACCACGCCATCCCCCAA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	83	79			NA	NA	1		NA											NA				145474036		2203	4300	6503	SO:0001819	synonymous_variant			AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031	284615	284615		Ankyrin repeat domain containing	27639	protein-coding gene	gene with protein product			ankyrin repeat domain 34	ANKRD34	NA		Standard		NM_001039888	NA	Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.708C>T	1.37:g.145474036C>T		NA	B3KSU3	37	CCDS30829.1																																																																																			ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000038512.1		+	ENST00000323397.4	Silent	SNP	1 : 145474036 - 145474036 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	986	192
ANKRD35	148741	broad.mit.edu	37	1	145562533	145562534	+	Frame_Shift_Ins	INS	-	-	G			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:145562533_145562534insG	ENST00000355594.4	+	10	2308_2309	c.2221_2222insG	c.(2221-2223)cggfs	p.R741fs		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	741								p.R741R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGATCGGCACCGGGAGGCCCAG	0.653		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(9;127 754 22988 51047)							NA				1	Substitution - coding silent(1)	central_nervous_system(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483	148741	148741		Ankyrin repeat domain containing	26323	protein-coding gene	gene with protein product					NA		Standard	NM_144698	NM_144698	NA	Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2224dupG	1.37:g.145562536_145562536dupG	ENSP00000347802:p.Arg741fs	NA	A6NEU0|Q3MJ10|Q96LS3	37	CCDS919.1																																																																																			ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000038515.1		+	ENST00000355594.4	Frame_Shift_Ins	INS	1 : 145562533 - 145562534 G PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	96	23
ANKRD35	148741	broad.mit.edu	37	1	145558485	145558485	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:145558485C>T	ENST00000355594.4	+	6	513	c.426C>T	c.(424-426)caC>caT	p.H142H	ANKRD35_ENST00000544626.1_Missense_Mutation_p.T123M	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	142										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTGTGACCACGAAGCCTTCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(9;127 754 22988 51047)							NA				0													148	131	136			NA	NA	1		NA											NA				145558485		2203	4300	6503	SO:0001819	synonymous_variant			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483	148741	148741		Ankyrin repeat domain containing	26323	protein-coding gene	gene with protein product					NA		Standard	NM_144698	NM_144698	NA	Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.426C>T	1.37:g.145558485C>T		NA	A6NEU0|Q3MJ10|Q96LS3	37	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326612	0.41197	.	.	ENSG00000198483	ENST00000544626	T	0.15603	2.41	5.09	-7.84	0.01196	.	.	.	.	.	T	0.11281	0.0275	.	.	.	0.19575	N	0.999965	.	.	.	.	.	.	T	0.14559	-1.0468	6	0.72032	D	0.01	-16.9738	16.3209	0.82951	0.0:0.2377:0.0:0.7623	.	.	.	.	M	123	ENSP00000442671:T123M	ENSP00000442671:T123M	T	+	2	0	ANKRD35	144269842	0.000000	0.05858	0.525000	0.27900	0.977000	0.68977	-4.830000	0.00180	-1.784000	0.01272	-0.768000	0.03414	ACG	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000038515.1		+	ENST00000355594.4	Silent	SNP	1 : 145558485 - 145558485 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	336	99
AP3B1	8546	broad.mit.edu	37	5	77436974	77436974	+	Missense_Mutation	SNP	G	G	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:77436974G>C	ENST00000519295.1	-	15	1767	c.1496C>G	c.(1495-1497)tCc>tGc	p.S499C	AP3B1_ENST00000255194.6_Missense_Mutation_p.S548C	NM_003664.3	NP_003655.3	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	548					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CACCTGTTTGGAGTTGGTTAA	0.408		NA							Hermansky-Pudlak syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	133	130			NA	NA	5		NA											NA				77436974		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842	8546	8546			566	protein-coding gene	gene with protein product		603401			NA	9182526, 9151686	Standard		NM_003664	NA	Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000519295.1:c.1496C>G	5.37:g.77436974G>C	ENSP00000430597:p.Ser499Cys	NA	O00580|Q7Z393|Q9HD66	37		.	.	.	.	.	.	.	.	.	.	G	25.9	4.686301	0.88639	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.14266	2.52;2.52	5.63	5.63	0.86233	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.29579	-1.0007	10	0.87932	D	0	-8.1557	19.6633	0.95882	0.0:0.0:1.0:0.0	.	548	O00203	AP3B1_HUMAN	C	548;499;548;452	ENSP00000255194:S548C;ENSP00000430597:S499C	ENSP00000255194:S548C	S	-	2	0	AP3B1	77472730	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.864000	0.99589	2.638000	0.89438	0.655000	0.94253	TCC	AP3B1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000369905.1		-	ENST00000519295.1	Missense_Mutation	SNP	5 : 77436974 - 77436974 C PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	377	104
ATP2B1	490	broad.mit.edu	37	12	90036041	90036041	+	Missense_Mutation	SNP	T	T	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:90036041T>A	ENST00000428670.3	-	3	756	c.300A>T	c.(298-300)caA>caT	p.Q100H	ATP2B1_ENST00000348959.3_Missense_Mutation_p.Q100H|ATP2B1_ENST00000261173.2_Missense_Mutation_p.Q100H|ATP2B1_ENST00000359142.3_Missense_Mutation_p.Q100H			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	100					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CCCATACTAATTGAAGAAAGG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	232	221			NA	NA	12		NA											NA				90036041		2203	4300	6503	SO:0001583	missense			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	490	490	3.6.3.8	ATPases / P-type	814	protein-coding gene	gene with protein product	plasma membrane calcium-transporting ATPase 1	108731			NA	1674727	Standard	NM_001682	NM_001682	NA	Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.300A>T	12.37:g.90036041T>A	ENSP00000392043:p.Gln100His	NA	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	37	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.237947	0.79800	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.76	-5.69	0.02428	.	0.000000	0.85682	D	0.000000	D	0.83275	0.5219	M	0.79805	2.47	0.53005	D	0.99996	D;P	0.63880	0.993;0.5	P;P	0.60682	0.878;0.55	D	0.84356	0.0535	9	.	.	.	-20.2557	15.3162	0.74081	0.0:0.6036:0.0:0.3964	.	100;100	P20020-3;P20020-2	.;.	H	100	ENSP00000261173:Q100H;ENSP00000343599:Q100H;ENSP00000352054:Q100H;ENSP00000392043:Q100H	.	Q	-	3	2	ATP2B1	88560172	0.015000	0.18098	0.906000	0.35671	0.986000	0.74619	-0.835000	0.04386	-0.979000	0.03529	0.379000	0.24179	CAA	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406653.1		-	ENST00000428670.3	Missense_Mutation	SNP	12 : 90036041 - 90036041 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	1472	517
B4GALNT3	283358	broad.mit.edu	37	12	653515	653515	+	Missense_Mutation	SNP	G	G	A	rs141528374		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:653515G>A	ENST00000266383.5	+	4	375	c.362G>A	c.(361-363)cGt>cAt	p.R121H	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	121						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TTCCGGGGCCGTGCCAACCTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	112	95	101		362	1	0.9	12	dbSNP_134	101	0,8600		0,0,4300	no	missense	B4GALNT3	NM_173593.3	29	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	121/999	653515	1,13005	2203	4300	6503	SO:0001583	missense			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	283358	283358	2.4.1.-	Beta 4-glycosyltransferases	24137	protein-coding gene	gene with protein product		612220			NA	12966086	Standard	NM_173593	NM_173593	NA	Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.362G>A	12.37:g.653515G>A	ENSP00000266383:p.Arg121His	NA	Q6ZNC1|Q8N7T6	37	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064962	0.36470	2.27E-4	0.0	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.31510	3.51;1.49	4.73	1.01	0.19927	.	0.563844	0.18883	N	0.128522	T	0.13586	0.0329	N	0.08118	0	0.29262	N	0.871299	B;B	0.15719	0.014;0.004	B;B	0.08055	0.003;0.002	T	0.12941	-1.0528	10	0.39692	T	0.17	-3.8814	7.2086	0.25921	0.6513:0.0:0.3487:0.0	.	23;121	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	H	121;23	ENSP00000266383:R121H;ENSP00000322953:R23H	ENSP00000266383:R121H	R	+	2	0	B4GALNT3	523776	0.004000	0.15560	0.863000	0.33907	0.836000	0.47400	0.174000	0.16743	0.138000	0.18790	0.491000	0.48974	CGT	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251406.2		+	ENST00000266383.5	Missense_Mutation	SNP	12 : 653515 - 653515 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	313	5
BCL6	604	broad.mit.edu	37	3	187447652	187447652	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:187447652C>T	ENST00000450123.2	-	4	564	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	BCL6_ENST00000406870.2_Missense_Mutation_p.A181T|BCL6_ENST00000232014.4_Missense_Mutation_p.A181T|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron	NM_001134738.1	NP_001128210.1	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	181					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AGGCTGGGGGCAAAGGCTCTG	0.602		NA	T, Mis	IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3	NHL, CLL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	0													68	67	67			NA	NA	3		NA											NA				187447652		2203	4300	6503	SO:0001583	missense				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916	604	604		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	1001	protein-coding gene	gene with protein product		109565	zinc finger protein 51	ZNF51	NA		Standard	NM_138931	NM_001130845	NA	Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000450123.2:c.541G>A	3.37:g.187447652C>T	ENSP00000413122:p.Ala181Thr	NA	A7E241|D3DNV5	37	CCDS46975.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268534	0.59540	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.08546	3.08;3.08;3.08	5.47	5.47	0.80525	.	0.252544	0.46442	D	0.000284	T	0.08492	0.0211	L	0.36672	1.1	0.39564	D	0.969175	P;P	0.38922	0.596;0.651	B;B	0.35353	0.201;0.15	T	0.09952	-1.0651	10	0.56958	D	0.05	.	14.385	0.66938	0.0:0.8524:0.1476:0.0	.	181;181	B8PSA7;P41182	.;BCL6_HUMAN	T	181	ENSP00000384371:A181T;ENSP00000232014:A181T;ENSP00000413122:A181T	ENSP00000232014:A181T	A	-	1	0	BCL6	188930346	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.270000	0.43355	2.764000	0.94973	0.556000	0.70494	GCC	BCL6-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344211.2		-	ENST00000450123.2	Missense_Mutation	SNP	3 : 187447652 - 187447652 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	291	92
BCORL1	63035	broad.mit.edu	37	X	129190051	129190051	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:129190051C>T	ENST00000218147.7	+	13	5273	c.5076C>T	c.(5074-5076)taC>taT	p.Y1692Y	BCORL1_ENST00000303743.5_Silent_p.Y1766Y|BCORL1_ENST00000359304.2_Silent_p.Y1562Y|BCORL1_ENST00000540052.1_Silent_p.Y1692Y			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1692					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGGTGCGGTACGAGCCAGACC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	38	38			NA	NA	X		NA											NA				129190051		2203	4300	6503	SO:0001819	synonymous_variant			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185	63035	63035		Ankyrin repeat domain containing	25657	protein-coding gene	gene with protein product		300688	chromosome X open reading frame 10, BCL6 co-repressor-like 1	CXorf10	NA		Standard	NM_021946	NM_021946	NA	Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.5076C>T	X.37:g.129190051C>T		NA	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	37	CCDS14616.1																																																																																			BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058223.1		+	ENST00000218147.7	Silent	SNP	X : 129190051 - 129190051 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	189	95
C1orf105	92346	broad.mit.edu	37	1	172437641	172437641	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:172437641C>T	ENST00000367727.4	+	7	657	c.459C>T	c.(457-459)caC>caT	p.H153H	C1orf105_ENST00000367726.1_3'UTR|C1orf105_ENST00000367725.4_Silent_p.H143H	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	153										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						CTGTCTTCCACGGATTACTGA	0.478		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0													161	171	168			NA	NA	1		NA											NA				172437641		2203	4300	6503	SO:0001819	synonymous_variant			AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999	92346	92346			29591	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_139240	NM_139240	NA	Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.459C>T	1.37:g.172437641C>T		NA	Q8IY02	37	CCDS1301.1																																																																																			C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084062.2		+	ENST00000367727.4	Silent	SNP	1 : 172437641 - 172437641 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	1242	23
C6orf118	168090	broad.mit.edu	37	6	165715133	165715133	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:165715133G>A	ENST00000230301.8	-	2	698	c.678C>T	c.(676-678)ctC>ctT	p.L226L	C6orf118_ENST00000543069.1_Silent_p.L122L	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	226										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTTGCTTGGCGAGCACTTCCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	74	74			NA	NA	6		NA											NA				165715133		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539	168090	168090			21233	protein-coding gene	gene with protein product					NA		Standard	NM_144980	NM_144980	NA	Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.678C>T	6.37:g.165715133G>A		NA	Q8TC11	37	CCDS5288.1																																																																																			C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043026.1		-	ENST00000230301.8	Silent	SNP	6 : 165715133 - 165715133 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	295	81
CBWD3	445571	broad.mit.edu	37	9	70871889	70871889	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873	445571	445571			18519	protein-coding gene	gene with protein product		611080			NA	15233989, 12421752	Standard	NM_201453	XM_005277637	NA	Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.483C>T	9.37:g.70871889C>T		NA		37	CCDS35038.1																																																																																			CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052526.1		+	ENST00000360171.6	Silent	SNP	9 : 70871889 - 70871889 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	916	9
CC2D2B	387707	broad.mit.edu	37	10	97791640	97791640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr10:97791640C>T	ENST00000344386.3	+	9	1008	c.844C>T	c.(844-846)Caa>Taa	p.Q282*	ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000371198.2_3'UTR|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Nonsense_Mutation_p.Q361*|RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000451364.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	282										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TGCTGTTTATCAAACTGGAAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	181	188			NA	NA	10		NA											NA				97791640		1872	4119	5991	SO:0001587	stop_gained			BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649	387707	387707			31666	protein-coding gene	gene with protein product			chromosome 10 open reading frame 130	C10orf130	NA		Standard	NM_001001732	NM_001001732	NA	Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.844C>T	10.37:g.97791640C>T	ENSP00000343747:p.Gln282*	NA	A2A3E9|Q5VUS0	37	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	C	35	5.445563	0.96187	.	.	ENSG00000188649	ENST00000451649;ENST00000344386	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	14.2322	0.65901	0.1493:0.8507:0.0:0.0	.	.	.	.	X	361;282	.	ENSP00000343747:Q282X	Q	+	1	0	CC2D2B	97781630	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.245000	0.51407	2.873000	0.98535	0.563000	0.77884	CAA	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049573.3		+	ENST00000344386.3	Nonsense_Mutation	SNP	10 : 97791640 - 97791640 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	426	7
CILP	8483	broad.mit.edu	37	15	65489789	65489789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr15:65489789C>T	ENST00000261883.4	-	9	3001	c.2835G>A	c.(2833-2835)tgG>tgA	p.W945*		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	945					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCGGCTTTGGCCACCATGCCA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	109	112			NA	NA	15		NA											NA				65489789		2202	4299	6501	SO:0001587	stop_gained			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615	8483	8483		Immunoglobulin superfamily / Immunoglobulin-like domain containing	1980	protein-coding gene	gene with protein product		603489			NA	9722584, 9722583	Standard	NM_003613	NM_003613	NA	Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2835G>A	15.37:g.65489789C>T	ENSP00000261883:p.Trp945*	NA	B2R8F7|Q6UW99|Q8IYI5	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	40	8.244679	0.98724	.	.	ENSG00000138615	ENST00000261883	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7735	19.0159	0.92894	0.0:1.0:0.0:0.0	.	.	.	.	X	945	.	ENSP00000261883:W945X	W	-	3	0	CILP	63276842	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.795000	0.85887	2.732000	0.93576	0.655000	0.94253	TGG	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256829.1		-	ENST00000261883.4	Nonsense_Mutation	SNP	15 : 65489789 - 65489789 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	399	5
CMTR1	23070	broad.mit.edu	37	6	37429865	37429865	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:37429865G>A	ENST00000373451.4	+	12	1476	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T		NM_015050.2	NP_055865.1			cap methyltransferase 1	438											NA						CAGCCGTCCTGCCAACTCAGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	141	143			NA	NA	6		NA											NA				37429865		2203	4300	6503	SO:0001583	missense			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	23070	23070	2.1.1.57	G patch domain containing	21077	protein-coding gene	gene with protein product			KIAA0082, FtsJ methyltransferase domain containing 2	KIAA0082, FTSJD2	NA	20713356	Standard	NM_015050	NM_015050	NA	Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1312G>A	6.37:g.37429865G>A	ENSP00000362550:p.Ala438Thr	NA		37	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	G	36	5.806409	0.96967	.	.	ENSG00000137200	ENST00000373451	T	0.30714	1.52	5.85	5.85	0.93711	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.54498	0.1862	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57004	-0.7885	10	0.66056	D	0.02	-21.0029	19.1516	0.93491	0.0:0.0:1.0:0.0	.	438	Q8N1G2	MTR1_HUMAN	T	438	ENSP00000362550:A438T	ENSP00000362550:A438T	A	+	1	0	FTSJD2	37537843	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.568000	0.98166	2.773000	0.95371	0.655000	0.94253	GCC	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040408.1		+	ENST00000373451.4	Missense_Mutation	SNP	6 : 37429865 - 37429865 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	465	5
COL4A5	1287	broad.mit.edu	37	X	107909779	107909779	+	Missense_Mutation	SNP	G	G	A	rs104886237		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:107909779G>A	ENST00000328300.6	+	39	3752	c.3508G>A	c.(3508-3510)Ggt>Agt	p.G1170S	COL4A5_ENST00000361603.2_Missense_Mutation_p.G1170S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1170	Triple-helical region.		G -> S (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGCAAACCCGGTCAAGATGG	0.443		NA							Alport syndrome with Diffuse Leiomyomatosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM993122	COL4A5	M	rs104886237						67	59	62			NA	NA	X		NA											NA				107909779		2203	4300	6503	SO:0001583	missense	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153	1287	1287		Collagens	2207	protein-coding gene	gene with protein product		303630	Alport syndrome	ASLN, ATS	NA		Standard		NM_000495	NA	Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000328300.6:c.3508G>A	X.37:g.107909779G>A	ENSP00000331902:p.Gly1170Ser	NA	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	37	CCDS35366.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146532	0.77888	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99329	-5.75;-5.75	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.99729	0.9894	H	0.98965	4.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96983	0.9716	10	0.87932	D	0	.	18.4199	0.90587	0.0:0.0:1.0:0.0	.	1170;1170	E7EVY4;P29400	.;CO4A5_HUMAN	S	1170	ENSP00000331902:G1170S;ENSP00000354505:G1170S	ENSP00000331902:G1170S	G	+	1	0	COL4A5	107796435	1.000000	0.71417	0.969000	0.41365	0.927000	0.56198	8.265000	0.89869	2.290000	0.77057	0.600000	0.82982	GGT	COL4A5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360023.1		+	ENST00000328300.6	Missense_Mutation	SNP	X : 107909779 - 107909779 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	73	61
CRB1	23418	broad.mit.edu	37	1	197411423	197411423	+	Splice_Site	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:197411423G>A	ENST00000367399.2	+	9	3669		c.e9+1		RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000538660.1_Splice_Site|CRB1_ENST00000367400.3_Splice_Site|CRB1_ENST00000367397.1_3'UTR|CRB1_ENST00000535699.1_Splice_Site|CRB1_ENST00000544212.1_Splice_Site	NM_001193640.1	NP_001180569.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	NA					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CGAGGTGGACGTAAGCAGCCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CS040833	CRB1	S							198	182	187			NA	NA	1		NA											NA				197411423		2203	4300	6503	SO:0001630	splice_region_variant				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376	23418	23418			2343	protein-coding gene	gene with protein product		604210	crumbs (Drosophila) homolog 1, crumbs homolog 1 (Drosophila)	RP12	NA	10373321, 10508521	Standard	NM_201253	NM_201253	NA	Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367399.2:c.3669+1G>A	1.37:g.197411423G>A		NA	A2A308|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0	37	CCDS53454.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650712	0.87958	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000448952	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6189	0.95647	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRB1	195678046	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.916000	0.87491	2.629000	0.89072	0.591000	0.81541	.	CRB1-005	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280653.1	Intron	+	ENST00000367399.2	Splice_Site	SNP	1 : 197411423 - 197411423 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	584	5
CRIM1	51232	broad.mit.edu	37	2	36704145	36704145	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:36704145G>A	ENST00000280527.2	+	6	1472	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	369	VWFC 1.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CTGCTTCACCGCCCAGTGTGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	111	116			NA	NA	2		NA											NA				36704145		2203	4300	6503	SO:0001583	missense			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938	51232	51232			2359	protein-coding gene	gene with protein product		606189	cysteine-rich motor neuron 1	S52	NA	10642437	Standard	NM_016441	NM_016441	NA	Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1105G>A	2.37:g.36704145G>A	ENSP00000280527:p.Ala369Thr	NA	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	37	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175054	0.94807	.	.	ENSG00000150938	ENST00000280527	T	0.71579	-0.58	5.93	5.93	0.95920	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67169	-0.5738	10	0.14656	T	0.56	-18.4323	19.3421	0.94347	0.0:0.0:1.0:0.0	.	369	Q9NZV1	CRIM1_HUMAN	T	369	ENSP00000280527:A369T	ENSP00000280527:A369T	A	+	1	0	CRIM1	36557649	1.000000	0.71417	0.982000	0.44146	0.988000	0.76386	9.714000	0.98744	2.826000	0.97356	0.655000	0.94253	GCC	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216878.2		+	ENST00000280527.2	Missense_Mutation	SNP	2 : 36704145 - 36704145 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	335	5
DAAM2	23500	broad.mit.edu	37	6	39845988	39845988	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:39845988C>T	ENST00000398904.2	+	12	1493	c.1311C>T	c.(1309-1311)aaC>aaT	p.N437N	DAAM2_ENST00000274867.4_Silent_p.N437N|DAAM2_ENST00000538976.1_Silent_p.N437N			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	437					actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGCTCATCAACGAGAATGAAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	,	0,4166		0,0,2083	75	83	80		1311,1311	-1.8	1	6		80	1,8429		0,1,4214	no	coding-synonymous,coding-synonymous	DAAM2	NM_001201427.1,NM_015345.3	,	0,1,6297	TT,TC,CC	NA	0.0119,0.0,0.0079	,	437/1069,437/1068	39845988	1,12595	2083	4215	6298	SO:0001819	synonymous_variant			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122	23500	23500			18143	protein-coding gene	gene with protein product		606627			NA	11779461, 12632087	Standard		NM_015345	NA	Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1311C>T	6.37:g.39845988C>T		NA	Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	37	CCDS56426.1																																																																																			DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280648.1		+	ENST00000398904.2	Silent	SNP	6 : 39845988 - 39845988 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	211	62
DNAH10	196385	broad.mit.edu	37	12	124317833	124317833	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:124317833C>A	ENST00000409039.3	+	26	4389	c.4364C>A	c.(4363-4365)cCt>cAt	p.P1455H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1455	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTTGTGGGGCCTTTTCTGCAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	63	63			NA	NA	12		NA											NA				124317833		1875	4106	5981	SO:0001583	missense			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653	196385	196385		Axonemal dyneins	2941	protein-coding gene	gene with protein product		605884	dynein, axonemal, heavy polypeptide 10		NA		Standard		NM_207437	NA	Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4364C>A	12.37:g.124317833C>A	ENSP00000386770:p.Pro1455His	NA	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980145	0.92982	.	.	ENSG00000197653	ENST00000409039	T	0.62105	0.05	5.83	5.83	0.93111	Dynein heavy chain, domain-2 (1);	0.000000	0.64402	U	0.000001	T	0.80742	0.4681	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78600	-0.2141	10	0.40728	T	0.16	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	1455	Q8IVF4	DYH10_HUMAN	H	1455	ENSP00000386770:P1455H	ENSP00000386770:P1455H	P	+	2	0	DNAH10	122883786	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.756000	0.94617	0.655000	0.94253	CCT	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335420.3		+	ENST00000409039.3	Missense_Mutation	SNP	12 : 124317833 - 124317833 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	123	31
DSC3	1825	broad.mit.edu	37	18	28610959	28610959	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr18:28610959G>A	ENST00000360428.4	-	3	414	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	DSC3_ENST00000434452.1_Silent_p.L112L	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	112					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTTCTAGCAGCACAGTAACC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	93	96			NA	NA	18		NA											NA				28610959		2203	4300	6503	SO:0001819	synonymous_variant			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762	1825	1825		Cadherins / Major cadherins	3037	protein-coding gene	gene with protein product		600271		DSC4	NA	7774948, 8486729	Standard	NM_001941, NM_024423	NM_001941	NA	Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.334C>T	18.37:g.28610959G>A		NA	A6NN35|Q14200|Q9HAZ9	37	CCDS32810.1																																																																																			DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447384.1		-	ENST00000360428.4	Silent	SNP	18 : 28610959 - 28610959 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	397	123
FMN2	56776	broad.mit.edu	37	1	240256586	240256586	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:240256586G>A	ENST00000319653.9	+	1	1407	c.1177G>A	c.(1177-1179)Gcg>Acg	p.A393T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	393					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.A536T(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGACGCCCCCGCGGCCGCTTC	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											17	23	21			NA	NA	1		NA											NA				240256586		2191	4287	6478	SO:0001583	missense			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816	56776	56776			14074	protein-coding gene	gene with protein product		606373			NA	10781961	Standard	XM_371352	NM_020066	NA	Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1177G>A	1.37:g.240256586G>A	ENSP00000318884:p.Ala393Thr	NA	B0QZA7|Q59GF6|Q5VU37|Q9NZ55	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	3.560	-0.089766	0.07053	.	.	ENSG00000155816	ENST00000319653	T	0.28255	1.62	4.15	-0.182	0.13287	.	0.885835	0.09526	N	0.790278	T	0.15435	0.0372	N	0.12182	0.205	0.09310	N	0.999999	B	0.12630	0.006	B	0.06405	0.002	T	0.24476	-1.0159	10	0.46703	T	0.11	.	5.4466	0.16539	0.2993:0.1625:0.5382:0.0	.	393	Q9NZ56	FMN2_HUMAN	T	393	ENSP00000318884:A393T	ENSP00000318884:A393T	A	+	1	0	FMN2	238323209	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-0.165000	0.09968	0.085000	0.17107	-0.379000	0.06801	GCG	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096217.2		+	ENST00000319653.9	Missense_Mutation	SNP	1 : 240256586 - 240256586 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	110	41
FXYD3	5349	broad.mit.edu	37	19	35613737	35613737	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:35613737G>A	ENST00000435734.2	+	7	425	c.166G>A	c.(166-168)Gtc>Atc	p.V56I	FXYD3_ENST00000346446.5_Missense_Mutation_p.V56I|FXYD3_ENST00000604404.1_Missense_Mutation_p.V56I|FXYD3_ENST00000604255.1_Missense_Mutation_p.V113I|FXYD3_ENST00000603181.1_Missense_Mutation_p.V56I|FXYD3_ENST00000604804.1_Missense_Mutation_p.V85I|FXYD3_ENST00000604621.1_Missense_Mutation_p.V56I|FXYD3_ENST00000344013.6_Missense_Mutation_p.V56I|FXYD3_ENST00000605550.1_Missense_Mutation_p.V56I|FXYD3_ENST00000406242.3_Missense_Mutation_p.V56I|FXYD3_ENST00000605677.1_Missense_Mutation_p.V56I|FXYD3_ENST00000406988.1_Missense_Mutation_p.V56I|FXYD3_ENST00000535103.1_Missense_Mutation_p.V113I|FXYD3_ENST00000603524.1_Missense_Mutation_p.V85I	NM_001136011.1|NM_021910.2	NP_001129483.1|NP_068710.1	Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	56						chloride channel complex|integral to plasma membrane	chloride channel activity	p.V56L(1)		endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CATCATCATCGTCATGAGTGA	0.637		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)											75	80	79			NA	NA	19		NA											NA				35613737		2203	4300	6503	SO:0001583	missense			X93036	CCDS12442.1, CCDS12443.1, CCDS46048.1, CCDS46049.1, CCDS46050.1	19q13.11-q13.12	2008-05-14	2002-01-14			ENSG00000089356	5349	5349			4027	protein-coding gene	gene with protein product		604996	FXYD domain-containing ion transport regulator 3	PLML	NA	7836447, 10950925	Standard	NM_021910	NM_005971	NA	Approved	MAT-8	uc010xsm.2	Q14802		ENST00000435734.2:c.166G>A	19.37:g.35613737G>A	ENSP00000389770:p.Val56Ile	NA	A6NDE0|Q13211|Q6IB59	37	CCDS12443.1	.	.	.	.	.	.	.	.	.	.	G	7.337	0.620212	0.14193	.	.	ENSG00000089356	ENST00000406242;ENST00000435734;ENST00000346446;ENST00000344013;ENST00000406988;ENST00000535103	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	4.97	2.77	0.32553	.	0.160135	0.41294	D	0.000906	T	0.24005	0.0581	N	0.02334	-0.595	0.20821	N	0.999848	B;B;B;B	0.33379	0.389;0.41;0.248;0.16	B;B;B;B	0.22386	0.039;0.036;0.024;0.027	T	0.23547	-1.0185	10	0.09084	T	0.74	-1.8921	11.7292	0.51726	0.0:0.6497:0.3503:0.0	.	113;56;56;56	F5H174;F8WB34;Q14802-2;Q14802	.;.;.;FXYD3_HUMAN	I	56;113;56;56;56;113	ENSP00000385412:V56I;ENSP00000328259:V56I;ENSP00000339499:V56I;ENSP00000385200:V56I;ENSP00000443953:V113I	ENSP00000339499:V56I	V	+	1	0	FXYD3	40305577	0.031000	0.19500	0.271000	0.24616	0.012000	0.07955	0.640000	0.24705	0.485000	0.27652	-0.153000	0.13522	GTC	FXYD3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000468986.1		+	ENST00000435734.2	Missense_Mutation	SNP	19 : 35613737 - 35613737 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	352	121
GALC	2581	broad.mit.edu	37	14	88411975	88411975	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:88411975C>T	ENST00000261304.2	-	14	1698	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	GALC_ENST00000393568.4_Missense_Mutation_p.R508H|GALC_ENST00000393569.2_Missense_Mutation_p.R505H|GALC_ENST00000544807.2_Missense_Mutation_p.R475H	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	531			R -> C (in GLD).|R -> H (in GLD; infantile; significant reduction of activity).		carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGAACTTGGCGTAGCGTGAA	0.408		NA											C	1	5e-04	NA	NA	2184	0.0017	0.9997	,	,	NA	3e-04	NA	NA	NA	6e-04	0.7337	EXOME	NA	NA	7e-04	SNP								NA				0			GRCh37	CM990620	GALC	M							123	119	120			NA	NA	14		NA											NA				88411975		1885	4098	5983	SO:0001583	missense			L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	2581	2581	3.2.1.46		4115	protein-coding gene	gene with protein product	Krabbe disease	606890	galactosylceramidase (Krabbe disease)		NA		Standard		NM_000153	NA	Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1592G>A	14.37:g.88411975C>T	ENSP00000261304:p.Arg531His	NA	B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|Q8J030	37	CCDS9878.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.14	3.314547	0.60524	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	5.5	4.61	0.57282	.	0.048176	0.85682	D	0.000000	D	0.97745	0.9260	M	0.91140	3.18	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.999	D	0.98792	1.0736	10	0.87932	D	0	-13.106	15.9398	0.79745	0.1363:0.8637:0.0:0.0	.	475;508;505;531	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	H	531;475;505;320;508	ENSP00000261304:R531H;ENSP00000437513:R475H;ENSP00000377199:R505H;ENSP00000377198:R508H	ENSP00000261304:R531H	R	-	2	0	GALC	87481728	1.000000	0.71417	0.840000	0.33206	0.012000	0.07955	7.637000	0.83313	1.441000	0.47550	0.585000	0.79938	CGC	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071559.2		-	ENST00000261304.2	Missense_Mutation	SNP	14 : 88411975 - 88411975 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	491	125
GDI1	2664	broad.mit.edu	37	X	153670920	153670920	+	Silent	SNP	C	C	T	rs76578139		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:153670920C>T	ENST00000447750.2	+	11	1580	c.1245C>T	c.(1243-1245)aaC>aaT	p.N415N	GDI1_ENST00000465640.1_3'UTR	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	415					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAACCTGCAACGACATCAAAG	0.522		NA											C	1	6e-04	NA	NA	1659	0.0023	0.9999	,	,	NA	2e-04	NA	NA	NA	5e-04	0.9135	EXOME	NA	NA	6e-04	SNP								NA				0													173	134	147			NA	NA	X		NA											NA				153670920		2203	4300	6503	SO:0001819	synonymous_variant			X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879	2664	2664			4226	protein-coding gene	gene with protein product	mental retardation, X-linked 41, mental retardation, X-linked 48, rab GDP-dissociation inhibitor, alpha	300104		MRX48, MRX41, GDIL	NA	7543319, 7849400	Standard	NM_001493	NM_001493	NA	Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.1245C>T	X.37:g.153670920C>T		NA	P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	37	CCDS35452.1																																																																																			GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000081649.2		+	ENST00000447750.2	Silent	SNP	X : 153670920 - 153670920 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	277	315
GFPT1	2673	broad.mit.edu	37	2	69556893	69556893	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:69556893G>A	ENST00000361060.5	-	15	1642	c.1466C>T	c.(1465-1467)gCc>gTc	p.A489V	GFPT1_ENST00000357308.4_Missense_Mutation_p.A507V	NM_002056.3	NP_002047.2	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	NA	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CATCATAAGGGCAAACATCAC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	118	125			NA	NA	2		NA											NA				69556893		2203	4300	6503	SO:0001583	missense				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2673	2673	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	glutamine-fructose-6-phosphate transaminase 1	GFPT	NA	1460020	Standard		NM_002056	NA	Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000361060.5:c.1466C>T	2.37:g.69556893G>A	ENSP00000354347:p.Ala489Val	NA	Q53QE6|Q9BXF8	37	CCDS33216.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875075	0.91664	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.62941	-0.01;-0.01	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.79673	0.4486	M	0.86268	2.805	0.80722	D	1	D	0.65815	0.995	P	0.59761	0.863	T	0.82959	-0.0198	10	0.87932	D	0	-11.8633	18.081	0.89441	0.0:0.0:1.0:0.0	.	489	Q06210-2	.	V	507;489	ENSP00000349860:A507V;ENSP00000354347:A489V	ENSP00000349860:A507V	A	-	2	0	GFPT1	69410397	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.388000	0.59633	2.758000	0.94735	0.563000	0.77884	GCC	GFPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327274.3		-	ENST00000361060.5	Missense_Mutation	SNP	2 : 69556893 - 69556893 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	186	4
GPR125	166647	broad.mit.edu	37	4	22436937	22436938	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	TT	TT	-	-	TT	TT	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr4:22436937_22436938delTT	ENST00000334304.5	-	10	1708_1709	c.1439_1440delAA	c.(1438-1440)aaafs	p.K480fs	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Frame_Shift_Del_p.K480fs|GPR125_ENST00000508133.1_Frame_Shift_Del_p.K254fs	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	480					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GAAGTACCTCTTTTGATTTTTC	0.337		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			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990	166647	166647		-, GPCR / Class B : Orphans, Immunoglobulin superfamily / I-set domain containing	13839	protein-coding gene	gene with protein product		612303			NA	12565841	Standard		NM_145290	NA	Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1439_1440delAA	4.37:g.22436939_22436940delTT	ENSP00000334952:p.Lys480fs	NA	Q6UXK9|Q86SQ5|Q8TC55	37	CCDS33964.1																																																																																			GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362960.3		-	ENST00000334304.5	Frame_Shift_Del	DEL	4 : 22436937 - 22436938 - PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	304	94
GPR179	440435	broad.mit.edu	37	17	36485458	36485458	+	Missense_Mutation	SNP	A	A	G			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:36485458A>G	ENST00000342292.4	-	11	4014	c.3994T>C	c.(3994-3996)Tcc>Ccc	p.S1332P		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1332						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GACCCAGGGGACAGACCTCCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	53	51			NA	NA	17		NA											NA				36485458		1981	4160	6141	SO:0001583	missense				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399	440435	440435		GPCR / Class C : Orphans	31371	protein-coding gene	gene with protein product		614515	GPR158-like 1, GPR179	GPR158L1	NA		Standard		NM_001004334	NA	Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3994T>C	17.37:g.36485458A>G	ENSP00000345060:p.Ser1332Pro	NA		37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	A	2.564	-0.301204	0.05495	.	.	ENSG00000188888	ENST00000342292	T	0.53206	0.63	4.74	1.23	0.21249	.	0.407814	0.21212	N	0.078287	T	0.32912	0.0845	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14839	-1.0458	10	0.39692	T	0.17	-4.2878	4.6654	0.12662	0.6483:0.1668:0.185:0.0	.	1332	Q6PRD1	GP179_HUMAN	P	1332	ENSP00000345060:S1332P	ENSP00000345060:S1332P	S	-	1	0	GPR179	33738984	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.510000	0.22723	0.854000	0.35336	0.374000	0.22700	TCC	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255329.2		-	ENST00000342292.4	Missense_Mutation	SNP	17 : 36485458 - 36485458 G PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	207	5
HAUS5	23354	broad.mit.edu	37	19	36105981	36105981	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:36105981G>A	ENST00000203166.5	+	5	282	c.257G>A	c.(256-258)cGc>cAc	p.R86H	HAUS5_ENST00000379045.2_Missense_Mutation_p.R86H	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	86					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GCTGTGACCCGCCTGCGGGCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	26	25			NA	NA	19		NA											NA				36105981		1948	4145	6093	SO:0001583	missense			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115	23354	23354		HAUS augmin-like complex subunits	29130	protein-coding gene	gene with protein product		613432	KIAA0841	KIAA0841	NA	10048485, 19427217	Standard		NM_015302	NA	Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.257G>A	19.37:g.36105981G>A	ENSP00000439056:p.Arg86His	NA	B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	37	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	G	8.109	0.778332	0.16120	.	.	ENSG00000249115	ENST00000203166;ENST00000379045	T;T	0.35421	1.31;1.31	4.94	0.373	0.16178	.	0.501507	0.20263	N	0.095838	T	0.32224	0.0822	M	0.67953	2.075	0.09310	N	1	B	0.18013	0.025	B	0.12837	0.008	T	0.28870	-1.0030	10	0.59425	D	0.04	-19.0807	7.3956	0.26934	0.3627:0.0:0.6373:0.0	.	86	O94927	HAUS5_HUMAN	H	86	ENSP00000439056:R86H;ENSP00000444373:R86H	ENSP00000439056:R86H	R	+	2	0	HAUS5	40797821	0.859000	0.29813	0.931000	0.37212	0.070000	0.16714	0.651000	0.24873	-0.066000	0.12998	-0.234000	0.12200	CGC	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459055.2		+	ENST00000203166.5	Missense_Mutation	SNP	19 : 36105981 - 36105981 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	44	14
HIST1H2BK	85236	broad.mit.edu	37	6	27114499	27114499	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:27114499C>T	ENST00000356950.1	-	1	78	c.79G>A	c.(79-81)Ggc>Agc	p.G27S	HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.G27S			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	27					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGCTTCTTGCCGTCCTTCTTC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	145	157			NA	NA	6		NA											NA				27114499		2203	4300	6503	SO:0001583	missense			AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903	85236	85236		Histones / Replication-dependent	13954	protein-coding gene	gene with protein product		615045	H2B histone family, member T, histone 1, H2bk	H2BFT	NA	12408966	Standard	NM_080593	NM_080593	NA	Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.79G>A	6.37:g.27114499C>T	ENSP00000349430:p.Gly27Ser	NA	A8K7P7|Q2VPI7	37	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487925	0.64074	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.22539	1.95;1.95	3.82	3.82	0.43975	Histone-fold (2);	.	.	.	.	T	0.09379	0.0231	L	0.46947	1.48	0.44946	D	0.997962	B	0.30146	0.27	B	0.08055	0.003	T	0.06356	-1.0831	9	0.46703	T	0.11	.	14.0417	0.64678	0.0:1.0:0.0:0.0	.	27	O60814	H2B1K_HUMAN	S	27	ENSP00000380100:G27S;ENSP00000349430:G27S	ENSP00000349430:G27S	G	-	1	0	HIST1H2BK	27222478	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	5.099000	0.64554	2.080000	0.62538	0.650000	0.86243	GGC	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040141.1		-	ENST00000356950.1	Missense_Mutation	SNP	6 : 27114499 - 27114499 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	774	9
IFT140	9742	broad.mit.edu	37	16	1612009	1612009	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:1612009G>A	ENST00000426508.2	-	18	2539	c.2176C>T	c.(2176-2178)Cct>Tct	p.P726S	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	726										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TAGTAATAAGGCACTTCCATC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	82	84			NA	NA	16		NA											NA				1612009		2199	4300	6499	SO:0001583	missense			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535	9742	9742		Intraflagellar transport homologs, WD repeat domain containing	29077	protein-coding gene	gene with protein product		614620	WD and tetratricopeptide repeats 2, intraflagellar transport 140 homolog (Chlamydomonas)	WDTC2	NA	9628581	Standard	NM_014714	NM_014714	NA	Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2176C>T	16.37:g.1612009G>A	ENSP00000406012:p.Pro726Ser	NA	A2A2A8|D3DU75|O60332	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702254	0.68501	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.68025	-0.3	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86852	0.2024	10	0.87932	D	0	.	18.9059	0.92460	0.0:0.0:1.0:0.0	.	726;451	Q96RY7;B4DR58	IF140_HUMAN;.	S	726	ENSP00000406012:P726S	ENSP00000380562:P726S	P	-	1	0	IFT140	1552010	1.000000	0.71417	0.797000	0.32132	0.084000	0.17831	9.225000	0.95219	2.535000	0.85469	0.563000	0.77884	CCT	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250438.2		-	ENST00000426508.2	Missense_Mutation	SNP	16 : 1612009 - 1612009 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	193	102
IGF2R	3482	broad.mit.edu	37	6	160465585	160465585	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:160465585C>T	ENST00000356956.1	+	13	1809	c.1661C>T	c.(1660-1662)tCt>tTt	p.S554F		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	554					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TTTATTTCCTCTCCCATGAAA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	41	41			NA	NA	6		NA											NA				160465585		2203	4300	6503	SO:0001583	missense			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081	3482	3482		CD molecules	5467	protein-coding gene	gene with protein product	cation-independent mannose-6 phosphate receptor	147280			NA		Standard	NM_000876	NM_000876	NA	Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1661C>T	6.37:g.160465585C>T	ENSP00000349437:p.Ser554Phe	NA	Q7Z7G9|Q96PT5	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706258	0.68615	.	.	ENSG00000197081	ENST00000356956	T	0.02656	4.21	5.91	5.91	0.95273	Mannose-6-phosphate receptor, binding (1);	0.210963	0.51477	D	0.000082	T	0.12008	0.0292	M	0.82517	2.595	0.53688	D	0.999974	D	0.58620	0.983	P	0.62649	0.905	T	0.00583	-1.1659	10	0.66056	D	0.02	-9.3461	20.2985	0.98592	0.0:1.0:0.0:0.0	.	554	P11717	MPRI_HUMAN	F	554	ENSP00000349437:S554F	ENSP00000349437:S554F	S	+	2	0	IGF2R	160385575	1.000000	0.71417	0.927000	0.36925	0.330000	0.28571	5.766000	0.68843	2.793000	0.96121	0.655000	0.94253	TCT	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042931.1		+	ENST00000356956.1	Missense_Mutation	SNP	6 : 160465585 - 160465585 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	208	6
IGFLR1	79713	broad.mit.edu	37	19	36231946	36231946	+	Missense_Mutation	SNP	A	A	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:36231946A>C	ENST00000592537.1	-	2	236	c.136T>G	c.(136-138)Ttc>Gtc	p.F46V	IGFLR1_ENST00000344990.3_Missense_Mutation_p.F46V|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000246532.1_Missense_Mutation_p.F46V|IGFLR1_ENST00000588992.1_Missense_Mutation_p.F46V|IGFLR1_ENST00000592889.1_Missense_Mutation_p.F46V			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	46						integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						GGCGGCCCGAAGCGTTGCAGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	31	28			NA	NA	19		NA											NA				36231946		2203	4299	6502	SO:0001583	missense			AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246	79713	79713			23620	protein-coding gene	gene with protein product		614143	U2(RNU2) small nuclear RNA auxiliary factor 1-like 4, transmembrane protein 149	U2AF1L4, TMEM149	NA	21454693	Standard	NM_024660	NM_024660	NA	Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.136T>G	19.37:g.36231946A>C	ENSP00000466181:p.Phe46Val	NA	Q8N5X0	37	CCDS12472.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224049	0.79576	.	.	ENSG00000126246	ENST00000246532;ENST00000344990	D	0.92249	-3.0	4.93	3.86	0.44501	.	0.364637	0.26234	N	0.025544	D	0.90508	0.7026	M	0.61703	1.905	0.24562	N	0.993961	P;B	0.46142	0.873;0.27	P;B	0.45681	0.49;0.162	D	0.85018	0.0910	10	0.56958	D	0.05	-29.0104	8.7011	0.34327	0.8087:0.1913:0.0:0.0	.	46;46	Q9H665;Q9H665-2	IGFR1_HUMAN;.	V	46	ENSP00000246532:F46V	ENSP00000246532:F46V	F	-	1	0	IGFLR1	40923786	0.549000	0.26481	1.000000	0.80357	0.896000	0.52359	1.176000	0.31957	2.072000	0.62099	0.459000	0.35465	TTC	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459077.1		-	ENST00000592537.1	Missense_Mutation	SNP	19 : 36231946 - 36231946 C PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	63	22
IRX2	153572	broad.mit.edu	37	5	2749835	2749835	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:2749835C>T	ENST00000502957.1	-	0	263				IRX2_ENST00000382611.6_Missense_Mutation_p.A106T|IRX2_ENST00000302057.5_Missense_Mutation_p.A106T			Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	NA						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GGGTAGGCCGCGCTGCCGTAC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	69	71			NA	NA	5		NA											NA				2749835		2203	4299	6502	SO:0001623	5_prime_UTR_variant			AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561	153572	153572		Homeoboxes / TALE class	14359	protein-coding gene	gene with protein product		606198			NA	11435706	Standard		NM_033267	NA	Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000502957.1:c.-582G>A	5.37:g.2749835C>T		NA	Q68A19|Q7Z2I7	37		.	.	.	.	.	.	.	.	.	.	C	17.75	3.467539	0.63625	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	T;T;T	0.66280	-0.2;-0.2;-0.15	4.85	3.96	0.45880	Homeodomain-like (1);	0.108027	0.64402	D	0.000004	T	0.40448	0.1117	N	0.17474	0.49	0.42845	D	0.994069	B	0.32382	0.368	B	0.20184	0.028	T	0.35968	-0.9767	10	0.21540	T	0.41	-22.7679	13.2911	0.60272	0.0:0.7288:0.2712:0.0	.	106	Q9BZI1	IRX2_HUMAN	T	106;106;13	ENSP00000372056:A106T;ENSP00000307006:A106T;ENSP00000426151:A13T	ENSP00000307006:A106T	A	-	1	0	IRX2	2802835	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.500000	0.60387	2.239000	0.73571	0.655000	0.94253	GCG	IRX2-003	KNOWN	mRNA_end_NF|basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000365963.2		-	ENST00000502957.1	5'UTR	SNP	5 : 2749835 - 2749835 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	170	91
KBTBD4	55709	broad.mit.edu	37	11	47595092	47595094	+	In_Frame_Del	DEL	CGA	CGA	-			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	CGA	CGA	-	-	CGA	CGA	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:47595092_47595094delCGA	ENST00000526005.1	-	4	1098_1100	c.945_947delTCG	c.(943-948)cctcgg>ccg	p.R316del	KBTBD4_ENST00000395288.2_In_Frame_Del_p.R316del|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_In_Frame_Del_p.R332del|KBTBD4_ENST00000533290.1_In_Frame_Del_p.R341del			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	316										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						GAGCCGGTCCCGAGGCAAAGGAG	0.571		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:0001651	inframe_deletion			AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444	55709	55709		BTB/POZ domain containing	23761	protein-coding gene	gene with protein product			BTB and kelch domain containing 4	BKLHD4	NA	11042152	Standard	NM_016506	NM_018095	NA	Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.945_947delTCG	11.37:g.47595092_47595094delCGA	ENSP00000433340:p.Arg316del	NA	D3DQS2|Q6IA85|Q9BUC3|Q9NV76	37	CCDS7940.1																																																																																			KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391763.1		-	ENST00000526005.1	In_Frame_Del	DEL	11 : 47595092 - 47595094 - PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	254	63
KCNA5	3741	broad.mit.edu	37	12	5153999	5153999	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:5153999G>A	ENST00000252321.3	+	1	915	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	229						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CCCCTGCCCCGCAACGAGTTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	77	74			NA	NA	12		NA											NA				5153999		2203	4300	6503	SO:0001583	missense			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037	3741	3741		Potassium channels, Voltage-gated ion channels / Potassium channels	6224	protein-coding gene	gene with protein product		176267			NA	16382104	Standard	NM_002234	NM_002234	NA	Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.686G>A	12.37:g.5153999G>A	ENSP00000252321:p.Arg229His	NA	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	37	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016133	0.35606	.	.	ENSG00000130037	ENST00000252321	T	0.65549	-0.16	4.77	4.77	0.60923	.	1.183500	0.06286	U	0.698225	T	0.56906	0.2017	L	0.35644	1.08	0.29339	N	0.866187	B	0.13145	0.007	B	0.12837	0.008	T	0.46938	-0.9155	10	0.52906	T	0.07	.	12.4671	0.55764	0.0832:0.0:0.9168:0.0	.	229	P22460	KCNA5_HUMAN	H	229	ENSP00000252321:R229H	ENSP00000252321:R229H	R	+	2	0	KCNA5	5024260	0.000000	0.05858	0.996000	0.52242	0.991000	0.79684	-0.403000	0.07214	2.478000	0.83669	0.561000	0.74099	CGC	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398925.2		+	ENST00000252321.3	Missense_Mutation	SNP	12 : 5153999 - 5153999 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	362	145
KEAP1	9817	broad.mit.edu	37	19	10610147	10610147	+	Missense_Mutation	SNP	G	G	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:10610147G>C	ENST00000171111.5	-	2	1110	c.563C>G	c.(562-564)gCc>gGc	p.A188G	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.A188G	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	188	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			AGCGAAGTTGGCGATGCCGAT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	79	86			NA	NA	19		NA											NA				10610147		2203	4300	6503	SO:0001583	missense			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999	9817	9817		Kelch-like, BTB/POZ domain containing	23177	protein-coding gene	gene with protein product	kelch-like family member 19	606016			NA		Standard	NM_012289	NM_012289	NA	Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.563C>G	19.37:g.10610147G>C	ENSP00000171111:p.Ala188Gly	NA	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	37	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980801	0.74474	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.69306	-0.39;-0.39	4.81	4.81	0.61882	BTB/Kelch-associated (2);	0.053770	0.64402	D	0.000001	T	0.76962	0.4061	L	0.53617	1.68	0.80722	D	1	D	0.67145	0.996	D	0.65573	0.936	T	0.79619	-0.1728	10	0.72032	D	0.01	.	15.3825	0.74669	0.0:0.0:1.0:0.0	.	188	Q14145	KEAP1_HUMAN	G	188	ENSP00000171111:A188G;ENSP00000377245:A188G	ENSP00000171111:A188G	A	-	2	0	KEAP1	10471147	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.017000	0.57167	2.232000	0.73038	0.561000	0.74099	GCC	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452000.1		-	ENST00000171111.5	Missense_Mutation	SNP	19 : 10610147 - 10610147 C PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	132	40
KLF5	688	broad.mit.edu	37	13	73636195	73636195	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr13:73636195delC	ENST00000377687.4	+	2	994	c.458delC	c.(457-459)tccfs	p.S153fs	KLF5_ENST00000539231.1_Frame_Shift_Del_p.S62fs|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	153					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CTCTACAAATCCCAGAGACCG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	131	139			NA	NA	13		NA											NA				73636195		2203	4300	6503	SO:0001589	frameshift_variant			D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554	688	688		Kruppel-like transcription factors, Zinc fingers, C2H2-type	6349	protein-coding gene	gene with protein product		602903		BTEB2	NA	8479902, 9973612	Standard		NM_001730	NA	Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.458delC	13.37:g.73636195delC	ENSP00000366915:p.Ser153fs	NA	Q9UHP8	37	CCDS9448.1																																																																																			KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045263.1		+	ENST00000377687.4	Frame_Shift_Del	DEL	13 : 73636195 - 73636195 - PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	426	137
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	301	94
KRAS	3845	broad.mit.edu	37	12	25362826	25362826	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:25362826T>C	ENST00000311936.3	-	5	661	c.470A>G	c.(469-471)tAt>tGt	p.Y157C	KRAS_ENST00000557334.1_Missense_Mutation_p.Y44C|KRAS_ENST00000256078.4_3'UTR	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	157					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		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)			AACTAATGTATAGAAGGCATC	0.284		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	0													58	57	57			NA	NA	12		NA											NA				25362826		2201	4287	6488	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.470A>G	12.37:g.25362826T>C	ENSP00000308495:p.Tyr157Cys	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.662479	0.67700	.	.	ENSG00000133703	ENST00000311936;ENST00000557334	T;T	0.80033	-1.33;-1.17	5.43	5.43	0.79202	.	.	.	.	.	D	0.89518	0.6738	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.90991	0.4835	8	0.87932	D	0	.	14.6577	0.68847	0.0:0.0:0.0:1.0	.	157	P01116-2	.	C	157;44	ENSP00000308495:Y157C;ENSP00000452512:Y44C	ENSP00000308495:Y157C	Y	-	2	0	KRAS	25254093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.649000	0.83500	2.066000	0.61787	0.482000	0.46254	TAT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25362826 - 25362826 C PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	311	184
KRT1	3848	broad.mit.edu	37	12	53069133	53069133	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:53069133G>A	ENST00000252244.3	-	9	1837	c.1779C>T	c.(1777-1779)ggC>ggT	p.G593G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	593	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.G593G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						cgccgccgccgcctccagagc	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	prostate(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768	3848	3848		-, Intermediate filaments type II, keratins (basic)	6412	protein-coding gene	gene with protein product		139350	epidermolytic hyperkeratosis 1	EHK1	NA	2461420, 2470667, 16831889	Standard	NM_006121	NM_006121	NA	Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1779C>T	12.37:g.53069133G>A		NA	B2RA01|Q14720|Q6GSJ0|Q9H298	37	CCDS8836.1																																																																																			KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405706.1		-	ENST00000252244.3	Silent	SNP	12 : 53069133 - 53069133 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	153	56
KRT34	3885	broad.mit.edu	37	17	39537409	39537409	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:39537409G>A	ENST00000394001.1	-	3	643	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AGGATCCTGCGTATGCTGTTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	154	127	136		613	5.5	1	17		136	0,8600		0,0,4300	no	missense	KRT34	NM_021013.3	180	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	205/437	39537409	1,13005	2203	4300	6503	SO:0001583	missense			Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737	3885	3885		-, Intermediate filaments type I, keratins (acidic)	6452	protein-coding gene	gene with protein product	hard keratin type I 4	602763	keratin, hair, acidic, 4	KRTHA4	NA	2431943, 9756910, 16831889	Standard	NM_021013	NM_021013	NA	Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.613C>T	17.37:g.39537409G>A	ENSP00000377570:p.Arg205Cys	NA	Q8IUT8|Q8N4W2	37	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	g	17.97	3.519112	0.64634	2.27E-4	0.0	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.52	5.52	0.82312	Filament (1);	0.000000	0.64402	D	0.000003	T	0.80019	0.4547	M	0.74881	2.28	0.48341	D	0.999631	D	0.89917	1.0	D	0.85130	0.997	T	0.81852	-0.0742	9	0.87932	D	0	.	18.419	0.90582	0.0:0.0:1.0:0.0	.	205	O76011	KRT34_HUMAN	C	163;205	.	ENSP00000251648:R205C	R	-	1	0	KRT34	36790935	0.995000	0.38212	1.000000	0.80357	0.497000	0.33675	2.210000	0.42816	2.606000	0.88127	0.655000	0.94253	CGC	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257304.3		-	ENST00000394001.1	Missense_Mutation	SNP	17 : 39537409 - 39537409 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	309	125
KRTAP4-3	85290	broad.mit.edu	37	17	39324213	39324213	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:39324213C>T	ENST00000391356.2	-	1	211	c.212G>A	c.(211-213)cGc>cAc	p.R71H		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	71	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].					keratin filament				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			gcagctggggcggcagcaggt	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													3	5	4			NA	NA	17		NA											NA				39324213		1366	3428	4794	SO:0001583	missense			AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156	85290	85290		Keratin associated proteins	18908	protein-coding gene	gene with protein product					NA		Standard		NM_033187	NA	Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.212G>A	17.37:g.39324213C>T	ENSP00000375151:p.Arg71His	NA		37	CCDS42331.1	.	.	.	.	.	.	.	.	.	.	.	14.27	2.484619	0.44147	.	.	ENSG00000196156	ENST00000391356	T	0.01495	4.83	4.46	1.32	0.21799	.	.	.	.	.	T	0.01870	0.0059	L	0.54908	1.71	0.09310	N	1	P	0.38335	0.627	B	0.23018	0.043	T	0.44667	-0.9313	9	0.66056	D	0.02	.	8.1078	0.30896	0.0:0.721:0.0:0.279	.	71	Q9BYR4	KRA43_HUMAN	H	71	ENSP00000375151:R71H	ENSP00000375151:R71H	R	-	2	0	KRTAP4-3	36577739	0.000000	0.05858	0.174000	0.22961	0.413000	0.31143	-0.095000	0.11077	0.081000	0.16988	0.609000	0.83330	CGC	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257784.1		-	ENST00000391356.2	Missense_Mutation	SNP	17 : 39324213 - 39324213 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	64	17
LILRA1	11024	broad.mit.edu	37	19	55107243	55107243	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:55107243G>A	ENST00000251372.3	+	6	983	c.801G>A	c.(799-801)caG>caA	p.Q267Q	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	267	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.L268I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACTTCCTCCAGCTCCCTGGCC	0.607		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)											106	104	104			NA	NA	19		NA											NA				55107243		2203	4300	6503	SO:0001819	synonymous_variant			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974	11024	11024		Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6602	protein-coding gene	gene with protein product		604810			NA	9548455	Standard	NM_006863	NM_006863	NA	Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.801G>A	19.37:g.55107243G>A		NA	O75018|Q3MJA6	37	CCDS12901.1																																																																																			LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000140807.2		+	ENST00000251372.3	Silent	SNP	19 : 55107243 - 55107243 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	411	157
LOXL2	4017	broad.mit.edu	37	8	23155589	23155589	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr8:23155589G>A	ENST00000389131.3	-	14	2661	c.2292C>T	c.(2290-2292)agC>agT	p.S764S		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	764					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TTAAGAGCCCGCTGAAGTGCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	78	79			NA	NA	8		NA											NA				23155589		2203	4300	6503	SO:0001819	synonymous_variant			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013	4017	4017			6666	protein-coding gene	gene with protein product		606663			NA	9722957	Standard		NM_002318	NA	Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.2292C>T	8.37:g.23155589G>A		NA	Q9BW70|Q9Y5Y8	37	CCDS34864.1																																																																																			LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375603.1		-	ENST00000389131.3	Silent	SNP	8 : 23155589 - 23155589 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	216	69
LRP1B	53353	broad.mit.edu	37	2	141264372	141264372	+	Silent	SNP	C	C	T	rs139084384	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:141264372C>T	ENST00000389484.3	-	53	9485	c.8514G>A	c.(8512-8514)ccG>ccA	p.P2838P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2838	LDL-receptor class A 18.				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)		TACCACACTGCGGTGACTCAT	0.383		NA								TSP Lung(27;0.18)			T	7	0.0032	0.01	NA	2184	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	0.0031	0.972	LOWCOV,EXOME	NA	NA	8e-04	SNP	Colon(99;50 2074 2507 20106)							NA				0								T		71,4335	819.9+/-416.4	0,71,2132	158	151	153		8514	0.3	0	2	dbSNP_134	153	0,8600		0,0,4300	no	coding-synonymous	LRP1B	NM_018557.2		0,71,6432	TT,TC,CC	NA	0.0,1.6114,0.5459		2838/4600	141264372	71,12935	2203	4300	6503	SO:0001819	synonymous_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.8514G>A	2.37:g.141264372C>T		NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1																																																																																			LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Silent	SNP	2 : 141264372 - 141264372 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	826	212
MBD4	8930	broad.mit.edu	37	3	129155916	129155916	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:129155916G>A	ENST00000429544.2	-	3	766	c.571C>T	c.(571-573)Ccg>Tcg	p.P191S	MBD4_ENST00000507208.1_Missense_Mutation_p.P191S|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000249910.1_Missense_Mutation_p.P191S|MBD4_ENST00000503197.1_Missense_Mutation_p.P191S|MBD4_ENST00000509587.1_Intron	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	191					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTACTTGGCGGCATAAACACA	0.443		NA						Base excision repair (BER), DNA glycosylases						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	153	151			NA	NA	3		NA											NA				129155916		2203	4300	6503	SO:0001583	missense			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071	8930	8930			6919	protein-coding gene	gene with protein product		603574			NA	9774669, 10097147	Standard	NM_003925	NM_003925	NA	Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000429544.2:c.571C>T	3.37:g.129155916G>A	ENSP00000394080:p.Pro191Ser	NA	D3DNC3|D3DNC4|Q7Z4T3|Q96F09	37		.	.	.	.	.	.	.	.	.	.	G	5.883	0.347124	0.11126	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000507208	D;D;D;D	0.92965	-2.93;-2.93;-3.14;-3.13	5.52	2.73	0.32206	.	1.116230	0.06686	N	0.768725	T	0.81422	0.4819	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.002;0.001	T	0.69785	-0.5051	10	0.56958	D	0.05	-0.0057	5.7883	0.18347	0.1473:0.0:0.5833:0.2694	.	191;191;191;191	E9PEE4;O95243-2;O95243-3;O95243	.;.;.;MBD4_HUMAN	S	191	ENSP00000394080:P191S;ENSP00000249910:P191S;ENSP00000424873:P191S;ENSP00000422327:P191S	ENSP00000249910:P191S	P	-	1	0	MBD4	130638606	0.004000	0.15560	0.005000	0.12908	0.003000	0.03518	0.522000	0.22909	0.289000	0.22422	-0.143000	0.13931	CCG	MBD4-003	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000355692.1		-	ENST00000429544.2	Missense_Mutation	SNP	3 : 129155916 - 129155916 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	520	6
MED12L	116931	broad.mit.edu	37	3	151075109	151075109	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:151075109C>T	ENST00000474524.1	+	18	2703	c.2665C>T	c.(2665-2667)Cgc>Tgc	p.R889C	MED12L_ENST00000273432.4_Missense_Mutation_p.R749C|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	889					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTTCTCAGGCGCTATCACAG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG,	1,4405	2.1+/-5.4	0,1,2202	128	109	116		2665,	4.4	0.9	3		116	0,8600		0,0,4300	no	missense,intron	P2RY12,MED12L	NM_053002.4,NM_022788.3	180,	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,	889/2146,	151075109	1,13005	2203	4300	6503	SO:0001583	missense			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893	116931	116931			16050	protein-coding gene	gene with protein product		611318	mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like		NA	11524702	Standard	NM_053002	XM_006713487	NA	Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2665C>T	3.37:g.151075109C>T	ENSP00000417235:p.Arg889Cys	NA	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953030	0.73902	2.27E-4	0.0	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.79454	-1.27;-1.27	5.3	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.85418	0.5692	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.995	D;P;P	0.72982	0.979;0.616;0.635	D	0.86975	0.2100	10	0.72032	D	0.01	-26.0088	15.3411	0.74296	0.141:0.859:0.0:0.0	.	749;889;889	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	C	889;749	ENSP00000417235:R889C;ENSP00000273432:R749C	ENSP00000273432:R749C	R	+	1	0	MED12L	152557799	1.000000	0.71417	0.866000	0.34008	0.957000	0.61999	2.622000	0.46427	1.336000	0.45506	-0.169000	0.13324	CGC	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357707.2		+	ENST00000474524.1	Missense_Mutation	SNP	3 : 151075109 - 151075109 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	527	169
MYT1L	23040	broad.mit.edu	37	2	1983497	1983497	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:1983497C>A	ENST00000399161.2	-	6	800	c.53G>T	c.(52-54)cGa>cTa	p.R18L	MYT1L_ENST00000428368.2_Missense_Mutation_p.R18L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	18					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGACATACCTCGAACCCCTTT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	58	55			NA	NA	2		NA											NA				1983497		2010	4177	6187	SO:0001583	missense			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487	23040	23040		Zinc fingers, C2HC-type containing	7623	protein-coding gene	gene with protein product	neural zinc finger transcription factor 1	613084			NA	9373037	Standard	NM_015025	XM_006711862	NA	Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.53G>T	2.37:g.1983497C>A	ENSP00000382114:p.Arg18Leu	NA	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	37		.	.	.	.	.	.	.	.	.	.	C	22.7	4.324853	0.81580	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.56444	0.46;0.46	5.1	5.1	0.69264	.	0.000000	0.47852	D	0.000207	T	0.69251	0.3090	L	0.54323	1.7	0.58432	D	0.999995	D;D	0.63046	0.987;0.992	D;D	0.70487	0.931;0.969	T	0.71656	-0.4527	10	0.72032	D	0.01	-19.3941	18.8902	0.92397	0.0:1.0:0.0:0.0	.	18;18	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	L	18	ENSP00000382114:R18L;ENSP00000396103:R18L	ENSP00000295067:R18L	R	-	2	0	MYT1L	1962504	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.591000	0.74090	2.539000	0.85634	0.591000	0.81541	CGA	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000322493.1		-	ENST00000399161.2	Missense_Mutation	SNP	2 : 1983497 - 1983497 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	171	39
NAP1L2	4674	broad.mit.edu	37	X	72434324	72434324	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:72434324G>A	ENST00000373517.3	-	1	360	c.5C>T	c.(4-6)gCc>gTc	p.A2V	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	2					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCTGACTCGGCCATTTTTCA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	53	51			NA	NA	X		NA											NA				72434324		2139	4033	6172	SO:0001583	missense			AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462	4674	4674			7638	protein-coding gene	gene with protein product		300026			NA	8789438	Standard	NM_021963	NM_021963	NA	Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.5C>T	X.37:g.72434324G>A	ENSP00000362616:p.Ala2Val	NA	B2RE61|Q8TAN6	37	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	g	16.18	3.049801	0.55218	.	.	ENSG00000186462	ENST00000373517	T	0.37584	1.19	3.03	2.16	0.27623	.	0.517494	0.18149	U	0.150154	T	0.20740	0.0499	N	0.19112	0.55	0.80722	D	1	B	0.19445	0.036	B	0.12837	0.008	T	0.06881	-1.0802	10	0.87932	D	0	-3.1541	5.4474	0.16544	0.1624:0.0:0.8376:0.0	.	2	Q9ULW6	NP1L2_HUMAN	V	2	ENSP00000362616:A2V	ENSP00000362616:A2V	A	-	2	0	NAP1L2	72351049	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	2.935000	0.48963	0.660000	0.30964	-0.208000	0.12717	GCC	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057225.1		-	ENST00000373517.3	Missense_Mutation	SNP	X : 72434324 - 72434324 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	350	6
NDUFV2	4729	broad.mit.edu	37	18	9122540	9122540	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	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-S4-A8RO-Tumor-SM-5PNP5	732	7
NOX4	50507	broad.mit.edu	37	11	89088203	89088203	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:89088203G>A	ENST00000535633.1	-	13	1382	c.1072C>T	c.(1072-1074)Cga>Tga	p.R358*	NOX4_ENST00000343727.5_Nonsense_Mutation_p.R358*|NOX4_ENST00000527956.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000534731.1_Nonsense_Mutation_p.R382*|NOX4_ENST00000424319.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000542487.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000413594.2_Nonsense_Mutation_p.R403*|NOX4_ENST00000528341.1_Nonsense_Mutation_p.R357*|NOX4_ENST00000375979.3_Nonsense_Mutation_p.R75*|NOX4_ENST00000263317.4_Nonsense_Mutation_p.R382*|NOX4_ENST00000531342.1_Nonsense_Mutation_p.R75*|NOX4_ENST00000532825.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000527626.1_Nonsense_Mutation_p.R216*	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	382	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.R382*(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTAAATCTCGAAATCGTTCT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	lung(1)						G	stop/ARG,stop/ARG,stop/ARG	0,4402		0,0,2201	50	49	49		1144,1072,1144	5.3	1	11		49	1,8597	1.2+/-3.3	0,1,4298	no	stop-gained,stop-gained,stop-gained	NOX4	NM_001143836.1,NM_001143837.1,NM_016931.3	,,	0,1,6499	AA,AG,GG	NA	0.0116,0.0,0.0077	,,	382/539,358/555,382/579	89088203	1,12999	2201	4299	6500	SO:0001587	stop_gained			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991	50507	50507			7891	protein-coding gene	gene with protein product		605261			NA		Standard	NM_016931	NM_001143837	NA	Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000535633.1:c.1072C>T	11.37:g.89088203G>A	ENSP00000440172:p.Arg358*	NA	A8K715|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	37	CCDS44696.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124446	0.94429	0.0	1.16E-4	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	.	.	.	5.31	5.31	0.75309	.	0.325791	0.27060	N	0.021133	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.9276	14.4891	0.67639	0.0:0.0:1.0:0.0	.	.	.	.	X	358;358;358;382;382;358;358;358;216;357;403;75;75	.	.	R	-	1	2	NOX4	88727851	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.228000	0.65310	2.479000	0.83701	0.563000	0.77884	CGA	NOX4-203	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394051.1		-	ENST00000535633.1	Nonsense_Mutation	SNP	11 : 89088203 - 89088203 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	280	158
NRN1L	123904	broad.mit.edu	37	16	67920029	67920029	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:67920029G>A	ENST00000339176.3	+	3	464	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	NRN1L_ENST00000576147.1_Missense_Mutation_p.G49R|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN	neuritin 1-like	122						anchored to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GTGCATGTTCGGGAGCGCGGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	0,4394		0,0,2197	33	33	33		365	-3.5	0	16		33	2,8598	2.2+/-6.3	0,2,4298	yes	missense	NRN1L	NM_198443.1	43	0,2,6495	AA,AG,GG	NA	0.0233,0.0,0.0154	benign	122/166	67920029	2,12992	2197	4300	6497	SO:0001583	missense			AY358782	CCDS10850.1	16q22.1	2008-02-05			ENSG00000188038	ENSG00000188038	123904	123904			29811	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_198443	NM_198443	NA	Approved	UNQ2446, MRCC2446	uc002euu.3	Q496H8	OTTHUMG00000137541	ENST00000339176.3:c.365G>A	16.37:g.67920029G>A	ENSP00000342411:p.Arg122Gln	NA	Q6UWH7	37	CCDS10850.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599853	0.28534	0.0	2.33E-4	ENSG00000188038	ENST00000339176	.	.	.	4.86	-3.54	0.04653	.	1.058750	0.07350	N	0.882262	T	0.10508	0.0257	N	0.01109	-1.01	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.29822	-0.9999	9	0.19147	T	0.46	.	6.5616	0.22489	0.4412:0.2124:0.3464:0.0	.	122	Q496H8	NRN1L_HUMAN	Q	122	.	ENSP00000342411:R122Q	R	+	2	0	NRN1L	66477530	0.010000	0.17322	0.049000	0.19019	0.006000	0.05464	0.003000	0.13083	-0.579000	0.05952	-1.417000	0.01113	CGG	NRN1L-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268872.2		+	ENST00000339176.3	Missense_Mutation	SNP	16 : 67920029 - 67920029 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	80	30
NUDT21	11051	broad.mit.edu	37	16	56468701	56468701	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:56468701T>C	ENST00000300291.5	-	5	684	c.512A>G	c.(511-513)cAt>cGt	p.H171R		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	171	Nudix hydrolase.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						CAACTTCTTATGTTCCTTAGG	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	111	109			NA	NA	16		NA											NA				56468701		2197	4293	6490	SO:0001583	missense			AJ001810	CCDS10760.1	16q12.2	2013-06-18	2005-07-11	2005-07-11	ENSG00000167005	ENSG00000167005	11051	11051		Nudix motif containing	13870	protein-coding gene	gene with protein product	cleavage factor Im complex 25 kDa subunit	604978	cleavage and polyadenylation specific factor 5, 25 kDa, cleavage and polyadenylation specific factor 5, 25 kD subunit	CPSF5	NA	9659921	Standard	NM_007006	NM_007006	NA	Approved	CFIM25	uc002eja.3	O43809	OTTHUMG00000133240	ENST00000300291.5:c.512A>G	16.37:g.56468701T>C	ENSP00000300291:p.His171Arg	NA	Q6IB85|Q6NE84	37	CCDS10760.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.563365	0.45694	.	.	ENSG00000167005	ENST00000300291	.	.	.	5.34	5.34	0.76211	NUDIX hydrolase domain (1);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	L	0.42581	1.335	0.80722	D	1	D	0.63046	0.992	P	0.57152	0.814	T	0.58578	-0.7612	9	0.23302	T	0.38	.	15.602	0.76631	0.0:0.0:0.0:1.0	.	171	O43809	CPSF5_HUMAN	R	171	.	ENSP00000300291:H171R	H	-	2	0	NUDT21	55026202	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.582000	0.82546	2.145000	0.66743	0.477000	0.44152	CAT	NUDT21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256980.3		-	ENST00000300291.5	Missense_Mutation	SNP	16 : 56468701 - 56468701 C PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	842	294
OR10A5	144124	broad.mit.edu	37	11	6867677	6867677	+	Missense_Mutation	SNP	C	C	G			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:6867677C>G	ENST00000299454.4	+	1	795	c.764C>G	c.(763-765)tCt>tGt	p.S255C	OR10A5_ENST00000379831.2_Missense_Mutation_p.S259C			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTCTATATATCTTCTAGCCTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(44;21 1072 25662 28041 45559)							NA				0													193	188	189			NA	NA	11		NA											NA				6867677		2201	4296	6497	SO:0001583	missense			AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363	144124	144124		GPCR / Class A : Olfactory receptors	15131	protein-coding gene	gene with protein product		608493		OR10A1	NA		Standard	NM_178168	NM_178168	NA	Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.764C>G	11.37:g.6867677C>G	ENSP00000299454:p.Ser255Cys	NA	O95223|Q52M66|Q96R21|Q96R22	37	CCDS7773.1	.	.	.	.	.	.	.	.	.	.	.	7.000	0.554679	0.13436	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.00183	8.6;8.6	3.59	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000018	T	0.00300	0.0009	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.70016	0.967	T	0.68834	-0.5304	10	0.41790	T	0.15	.	13.509	0.61499	0.0:1.0:0.0:0.0	.	255	Q9H207	O10A5_HUMAN	C	255;259	ENSP00000299454:S255C;ENSP00000369159:S259C	ENSP00000299454:S255C	S	+	2	0	OR10A5	6824253	0.000000	0.05858	0.221000	0.23827	0.007000	0.05969	0.600000	0.24104	2.269000	0.75478	0.591000	0.81541	TCT	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385983.1		+	ENST00000299454.4	Missense_Mutation	SNP	11 : 6867677 - 6867677 G PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	424	8
OR13C3	138803	broad.mit.edu	37	9	107298219	107298219	+	Silent	SNP	C	C	T	rs145221004		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr9:107298219C>T	ENST00000374781.2	-	1	918	c.876G>A	c.(874-876)ccG>ccA	p.P292P		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CTTGAGACTTCGGTTTCGCAT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(86;1248 1274 14222 15028 46219)							NA				0								C		0,4406		0,0,2203	142	134	137		876	-1.6	0.1	9	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR13C3	NM_001001961.1		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		292/348	107298219	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246	138803	138803		GPCR / Class A : Olfactory receptors	14704	protein-coding gene	gene with protein product					NA		Standard		NM_001001961	NA	Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.876G>A	9.37:g.107298219C>T		NA	Q5VVG1|Q6IF52	37	CCDS35089.1																																																																																			OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053477.2		-	ENST00000374781.2	Silent	SNP	9 : 107298219 - 107298219 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	496	181
OR51F2	119694	broad.mit.edu	37	11	4843156	4843156	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:4843156T>C	ENST00000322110.5	+	1	606	c.541T>C	c.(541-543)Tcc>Ccc	p.S181P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAGAGGTTGTCCTTCTGCAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													318	277	291			NA	NA	11		NA											NA				4843156		2201	4298	6499	SO:0001583	missense			BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925	119694	119694		GPCR / Class A : Olfactory receptors	15197	protein-coding gene	gene with protein product					NA		Standard	NM_001004753	NM_001004753	NA	Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.541T>C	11.37:g.4843156T>C	ENSP00000323952:p.Ser181Pro	NA	Q6IFI1	37	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	T	2.880	-0.232112	0.05983	.	.	ENSG00000176925	ENST00000322110	T	0.00036	8.86	4.66	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.663319	0.12337	U	0.477833	T	0.00210	0.0006	L	0.35487	1.065	0.09310	N	1	D	0.69078	0.997	D	0.71656	0.974	T	0.32824	-0.9892	10	0.02654	T	1	.	5.3429	0.15994	0.4154:0.0:0.148:0.4366	.	181	Q8NH61	O51F2_HUMAN	P	181	ENSP00000323952:S181P	ENSP00000323952:S181P	S	+	1	0	OR51F2	4799732	0.000000	0.05858	0.977000	0.42913	0.614000	0.37383	-0.787000	0.04618	0.309000	0.22966	0.459000	0.35465	TCC	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142181.1		+	ENST00000322110.5	Missense_Mutation	SNP	11 : 4843156 - 4843156 C PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	528	9
OR51G1	79324	broad.mit.edu	37	11	4945382	4945382	+	Missense_Mutation	SNP	T	T	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:4945382T>A	ENST00000321961.2	-	1	255	c.188A>T	c.(187-189)tAt>tTt	p.Y63F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCCAAGAAATAGTACATGGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	87	95			NA	NA	11		NA											NA				4945382		2201	4298	6499	SO:0001583	missense			AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879	79324	79324		GPCR / Class A : Olfactory receptors	14738	protein-coding gene	gene with protein product				OR51G3P	NA		Standard	NM_001005237	NM_001005237	NA	Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.188A>T	11.37:g.4945382T>A	ENSP00000322546:p.Tyr63Phe	NA	B9EGW8|Q6IFH6	37	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.517143	0.44763	.	.	ENSG00000176879	ENST00000321961	T	0.01685	4.69	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35739	U	0.003015	T	0.01592	0.0051	N	0.25060	0.705	0.27676	N	0.946609	B	0.15719	0.014	B	0.15484	0.013	T	0.37934	-0.9684	10	0.66056	D	0.02	.	6.9793	0.24694	0.3172:0.0:0.0:0.6828	.	63	Q8NGK1	O51G1_HUMAN	F	63	ENSP00000322546:Y63F	ENSP00000322546:Y63F	Y	-	2	0	OR51G1	4901958	0.901000	0.30685	1.000000	0.80357	0.963000	0.63663	1.508000	0.35769	1.760000	0.52011	0.455000	0.32223	TAT	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142345.1		-	ENST00000321961.2	Missense_Mutation	SNP	11 : 4945382 - 4945382 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	107	7
OR52H1	390067	broad.mit.edu	37	11	5565922	5565922	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:5565922G>A	ENST00000322653.4	-	1	857	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAAGGTGCGAGAGACATTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	197	203			NA	NA	11		NA											NA				5565922		2201	4297	6498	SO:0001583	missense			AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616	390067	390067		GPCR / Class A : Olfactory receptors	15218	protein-coding gene	gene with protein product					NA		Standard	NM_001005289	NM_001005289	NA	Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.832C>T	11.37:g.5565922G>A	ENSP00000326259:p.Arg278Cys	NA	B9EH26|Q6IF79	37	CCDS31386.1	.	.	.	.	.	.	.	.	.	.	g	11.32	1.604765	0.28623	.	.	ENSG00000181616	ENST00000322653	T	0.00158	8.65	5.22	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.697402	0.13692	N	0.369445	T	0.00241	0.0007	M	0.76938	2.355	0.09310	N	1	B	0.22800	0.075	B	0.24269	0.052	T	0.32534	-0.9903	10	0.49607	T	0.09	.	12.8057	0.57612	0.08:0.0:0.9199:0.0	.	278	Q8NGJ2	O52H1_HUMAN	C	278	ENSP00000326259:R278C	ENSP00000326259:R278C	R	-	1	0	OR52H1	5522498	0.000000	0.05858	0.177000	0.23020	0.738000	0.42128	0.114000	0.15520	1.209000	0.43321	-0.127000	0.14921	CGC	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143400.1		-	ENST00000322653.4	Missense_Mutation	SNP	11 : 5565922 - 5565922 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	173	4
OR5H1	26341	broad.mit.edu	37	3	97852022	97852022	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:97852022G>T	ENST00000354565.2	+	1	481	c.481G>T	c.(481-483)Gga>Tga	p.G161*	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AATCCATGAAGGATTTTTATT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	43	40			NA	NA	3		NA											NA				97852022		2182	4276	6458	SO:0001587	stop_gained			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192	26341	26341		GPCR / Class A : Olfactory receptors	8346	protein-coding gene	gene with protein product					NA	1370859	Standard	NM_001005338	NM_001005338	NA	Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.481G>T	3.37:g.97852022G>T	ENSP00000346575:p.Gly161*	NA		37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	G	7.459	0.644345	0.14451	.	.	ENSG00000231192	ENST00000354565	.	.	.	3.57	2.68	0.31781	.	0.626401	0.13894	N	0.355411	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	8.4928	0.33110	0.121:0.0:0.879:0.0	.	.	.	.	X	161	.	ENSP00000346575:G161X	G	+	1	0	OR5H1	99334712	0.000000	0.05858	0.005000	0.12908	0.014000	0.08584	-0.384000	0.07389	0.683000	0.31428	0.195000	0.17529	GGA	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359100.2		+	ENST00000354565.2	Nonsense_Mutation	SNP	3 : 97852022 - 97852022 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	384	39
OR5H14	403273	broad.mit.edu	37	3	97868710	97868710	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:97868710G>T	ENST00000437310.1	+	1	541	c.481G>T	c.(481-483)Gga>Tga	p.G161*		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AATCCATGAAGGATTTTTATT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	105	104			NA	NA	3		NA											NA				97868710		2202	4300	6502	SO:0001587	stop_gained				CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032	403273	403273		GPCR / Class A : Olfactory receptors	31286	protein-coding gene	gene with protein product					NA		Standard		NM_001005514	NA	Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.481G>T	3.37:g.97868710G>T	ENSP00000401706:p.Gly161*	NA	B9EH15	37	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	g	10.51	1.369165	0.24771	.	.	ENSG00000236032	ENST00000437310	.	.	.	2.49	-4.97	0.03029	.	0.899723	0.09201	N	0.834639	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	1.2356	0.01952	0.3199:0.1452:0.3874:0.1475	.	.	.	.	X	161	.	ENSP00000401706:G161X	G	+	1	0	OR5H14	99351400	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.434000	0.01021	-1.909000	0.01085	-1.051000	0.02340	GGA	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359112.1		+	ENST00000437310.1	Nonsense_Mutation	SNP	3 : 97868710 - 97868710 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	820	9
PABPC3	5042	broad.mit.edu	37	13	25671262	25671262	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr13:25671262G>A	ENST00000281589.3	+	1	963	c.926G>A	c.(925-927)cGt>cAt	p.R309H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	309	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GATGATGAACGTCTCCGGAAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													219	217	218			NA	NA	13		NA											NA				25671262		2203	4300	6503	SO:0001583	missense			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846	5042	5042		RNA binding motif (RRM) containing	8556	protein-coding gene	gene with protein product	testis PABP	604680	poly(A)-binding protein, cytoplasmic 3	PABPL3	NA	8432538, 10543404	Standard	NM_030979	NM_030979	NA	Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.926G>A	13.37:g.25671262G>A	ENSP00000281589:p.Arg309His	NA	Q8NHV0|Q9H086	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	8.903	0.956849	0.18507	.	.	ENSG00000151846	ENST00000281589	T	0.15952	2.38	0.875	-0.438	0.12268	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.135449	0.32473	N	0.006058	T	0.07007	0.0178	N	0.10685	0.025	0.50632	D	0.999884	P	0.43094	0.799	B	0.38985	0.287	T	0.30880	-0.9963	10	0.62326	D	0.03	.	6.1527	0.20320	0.0:0.3209:0.679:0.0	.	309	Q9H361	PABP3_HUMAN	H	309	ENSP00000281589:R309H	ENSP00000281589:R309H	R	+	2	0	PABPC3	24569262	1.000000	0.71417	0.851000	0.33527	0.226000	0.24999	3.068000	0.50018	-0.161000	0.10983	0.313000	0.20887	CGT	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044220.2		+	ENST00000281589.3	Missense_Mutation	SNP	13 : 25671262 - 25671262 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	1356	444
PCDH1	5097	broad.mit.edu	37	5	141248263	141248263	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:141248263G>A	ENST00000287008.3	-	2	921	c.774C>T	c.(772-774)ccC>ccT	p.P258P	PCDH1_ENST00000503492.1_Silent_p.P258P|PCDH1_ENST00000456271.1_Silent_p.P246P|PCDH1_ENST00000536585.1_Silent_p.P236P|PCDH1_ENST00000394536.3_Silent_p.P258P	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	258	Cadherin 2.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGGCGCGTGGGGGGCTGCCGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(132;1609 1739 4190 14731 45037)							NA				0													62	56	58			NA	NA	5		NA											NA				141248263		2203	4300	6503	SO:0001819	synonymous_variant			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453	5097	5097		Cadherins / Protocadherins : Non-clustered	8655	protein-coding gene	gene with protein product		603626	protocadherin 1 (cadherin-like 1)		NA	8508762	Standard	NM_032420	NM_032420	NA	Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.774C>T	5.37:g.141248263G>A		NA	Q8IUP2	37	CCDS4267.1																																																																																			PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320587.2		-	ENST00000287008.3	Silent	SNP	5 : 141248263 - 141248263 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	161	50
PCDHA5	56143	broad.mit.edu	37	5	140202956	140202956	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:140202956C>T	ENST00000529859.1	+	1	1596	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.F532F|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.F532F|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1			protocadherin alpha 5	NA										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGCAGTTCCAGGTGAGCG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	53	51			NA	NA	5		NA											NA				140202956		2203	4298	6501	SO:0001819	synonymous_variant			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965	56143	56143		Cadherins / Protocadherins : Clustered	8671	other	complex locus constituent	ortholog of mouse CNR6, KIAA0345-like 9	606311		CNRS6	NA	10380929, 10662547	Standard	NM_018908	NM_018908	NA	Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1596C>T	5.37:g.140202956C>T		NA		37	CCDS54917.1																																																																																			PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372883.2		+	ENST00000529859.1	Silent	SNP	5 : 140202956 - 140202956 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	500	5
PCDHB7	56129	broad.mit.edu	37	5	140553979	140553979	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:140553979C>T	ENST00000231137.3	+	1	1737	c.1563C>T	c.(1561-1563)taC>taT	p.Y521Y		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	521	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGGACTACGAGGCCCTGC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	78	76			NA	NA	5		NA											NA				140553979		2203	4300	6503	SO:0001819	synonymous_variant			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212	56129	56129		Cadherins / Protocadherins : Clustered	8692	other	protocadherin		606333			NA	10380929	Standard	NM_018940	NM_018940	NA	Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1563C>T	5.37:g.140553979C>T		NA		37	CCDS4249.1																																																																																			PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251803.2		+	ENST00000231137.3	Silent	SNP	5 : 140553979 - 140553979 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	494	55
PDZRN4	29951	broad.mit.edu	37	12	41966704	41966704	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:41966704G>A	ENST00000298919.7	+	10	1731	c.1343G>A	c.(1342-1344)cGg>cAg	p.R448Q	PDZRN4_ENST00000402685.2_Missense_Mutation_p.R708Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R450Q			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	708	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GGAGGATTCCGGAATTATAAC	0.443		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	2e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	7e-04	SNP								NA				0													98	100	99			NA	NA	12		NA											NA				41966704		2203	4300	6503	SO:0001583	missense			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966	29951	29951		RING-type (C3HC4) zinc fingers	30552	protein-coding gene	gene with protein product	similar to semaF cytoplasmic domain associated protein 3	609730			NA	11230166, 15010864	Standard	NM_013377	NM_013377	NA	Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000298919.7:c.1343G>A	12.37:g.41966704G>A	ENSP00000298919:p.Arg448Gln	NA	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.61	1.398179	0.25205	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.72505	-0.66;3.83;3.83	4.32	3.42	0.39159	.	0.094359	0.43416	D	0.000561	T	0.65565	0.2703	M	0.76838	2.35	0.39920	D	0.974143	B;B;B	0.31503	0.114;0.326;0.043	B;B;B	0.24269	0.003;0.052;0.014	T	0.64892	-0.6300	10	0.34782	T	0.22	-7.5442	9.2356	0.37464	0.0828:0.1469:0.7702:0.0	.	708;448;450	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	Q	708;450;448	ENSP00000384197:R708Q;ENSP00000439990:R450Q;ENSP00000298919:R448Q	ENSP00000298919:R448Q	R	+	2	0	PDZRN4	40252971	1.000000	0.71417	0.981000	0.43875	0.762000	0.43233	2.333000	0.43912	1.124000	0.41980	0.650000	0.86243	CGG	PDZRN4-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000403703.1		+	ENST00000298919.7	Missense_Mutation	SNP	12 : 41966704 - 41966704 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	291	72
PLD2	5338	broad.mit.edu	37	17	4712837	4712837	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:4712837G>A	ENST00000263088.6	+	7	736	c.605G>A	c.(604-606)cGc>cAc	p.R202H	PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	202					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GACTTGGGCCGCAAAGGACTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	59	58			NA	NA	17		NA											NA				4712837		2203	4300	6503	SO:0001583	missense			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	5338	5338	3.1.4.4		9068	protein-coding gene	gene with protein product	choline phosphatase 2	602384			NA	9858823, 9582313	Standard	NM_002663	NM_002663	NA	Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.605G>A	17.37:g.4712837G>A	ENSP00000263088:p.Arg202His	NA	O43540|O43579|O43580|Q6PGR0|Q96BY3	37	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940910	0.34283	.	.	ENSG00000129219	ENST00000263088	T	0.06449	3.3	5.1	0.825	0.18824	.	0.567307	0.19886	N	0.103853	T	0.02610	0.0079	N	0.04508	-0.205	0.19775	N	0.99996	B;B;B	0.21225	0.053;0.041;0.01	B;B;B	0.12156	0.001;0.007;0.002	T	0.48151	-0.9060	10	0.15499	T	0.54	-1.3847	9.5998	0.39596	0.0:0.495:0.426:0.079	.	59;202;202	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	H	202	ENSP00000263088:R202H	ENSP00000263088:R202H	R	+	2	0	PLD2	4659801	0.761000	0.28439	0.852000	0.33557	0.645000	0.38454	1.825000	0.39081	0.056000	0.16144	-0.311000	0.09066	CGC	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207561.3		+	ENST00000263088.6	Missense_Mutation	SNP	17 : 4712837 - 4712837 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	258	5
PPP1R16B	26051	broad.mit.edu	37	20	37547257	37547257	+	Missense_Mutation	SNP	C	C	G			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:37547257C>G	ENST00000299824.1	+	11	1841	c.1652C>G	c.(1651-1653)gCc>gGc	p.A551G	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A509G	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	551					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AAGTTCAAGGCCCCCATAGAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	52	53			NA	NA	20		NA											NA				37547257		2203	4300	6503	SO:0001583	missense			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445	26051	26051		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Ankyrin repeat domain containing	15850	protein-coding gene	gene with protein product	TGF-beta-inhibited membrane-associated protein, ankyrin repeat domain protein 4	613275	protein phosphatase 1, regulatory (inhibitor) subunit 16B		NA	10048485, 12055102	Standard	NM_015568	NM_001172735	NA	Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1652C>G	20.37:g.37547257C>G	ENSP00000299824:p.Ala551Gly	NA	A2RRR6|O94912|Q9NQG4	37	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.01|17.01	3.278924|3.278924	0.59758|0.59758	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.77229|.	-0.81;-1.08|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.188207|.	0.48767|.	D|.	0.000177|.	T|T	0.64438|0.64438	0.2598|0.2598	M|M	0.61703|0.61703	1.905|1.905	0.32685|0.32685	N|N	0.514994|0.514994	D;D|.	0.61080|.	0.989;0.98|.	P;P|.	0.57101|.	0.813;0.813|.	T|T	0.70619|0.70619	-0.4822|-0.4822	10|5	0.59425|.	D|.	0.04|.	.|.	17.2316|17.2316	0.86985|0.86985	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	509;551|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	G|A	551;509|452	ENSP00000299824:A551G;ENSP00000362428:A509G|.	ENSP00000299824:A551G|.	A|P	+|+	2|1	0|0	PPP1R16B|PPP1R16B	36980671|36980671	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.088000|5.088000	0.64486|0.64486	2.498000|2.498000	0.84270|0.84270	0.655000|0.655000	0.94253|0.94253	GCC|CCC	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079220.2		+	ENST00000299824.1	Missense_Mutation	SNP	20 : 37547257 - 37547257 G PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	194	52
PPP2R5C	5527	broad.mit.edu	37	14	102360847	102360847	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:102360847G>A	ENST00000334743.5	+	8	850	c.802G>A	c.(802-804)Gca>Aca	p.A268T	PPP2R5C_ENST00000557095.1_Missense_Mutation_p.A268T|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.A268T|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.A268T|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.A323T|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.A299T	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	268					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TTTTTAGCTGGCATACTGTGT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	134	149			NA	NA	14		NA											NA				102360847		2203	4300	6503	SO:0001583	missense			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304	5527	5527		Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits	9311	protein-coding gene	gene with protein product		601645	protein phosphatase 2, regulatory subunit B (B56), gamma isoform, protein phosphatase 2, regulatory subunit B', gamma isoform		NA	7592815	Standard	NM_002719	NM_002719	NA	Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.802G>A	14.37:g.102360847G>A	ENSP00000333905:p.Ala268Thr	NA	B5BUA5|Q14391|Q15060|Q15174	37	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593023	0.86953	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334756;ENST00000445439;ENST00000334743;ENST00000557095;ENST00000557716	T;T;T;T;T	0.49720	0.78;0.77;0.77;0.83;0.78	5.63	5.63	0.86233	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56615	0.1997	L	0.59436	1.845	0.80722	D	1	P;B;P;P;B;P	0.45531	0.831;0.083;0.765;0.86;0.148;0.567	B;B;B;P;B;B	0.48063	0.429;0.122;0.252;0.565;0.074;0.443	T	0.57487	-0.7803	10	0.54805	T	0.06	-6.5997	19.6959	0.96026	0.0:0.0:1.0:0.0	.	299;166;268;268;268;323	F5GWP3;E9PHN5;Q13362-3;Q13362;Q13362-2;Q6ZN33	.;.;.;2A5G_HUMAN;.;.	T	299;323;297;268;166;268;268;268;64	ENSP00000412324:A299T;ENSP00000329009:A323T;ENSP00000450931:A297T;ENSP00000262239:A268T;ENSP00000333905:A268T	ENSP00000329009:A323T	A	+	1	0	PPP2R5C	101430600	1.000000	0.71417	0.999000	0.59377	0.799000	0.45148	9.694000	0.98686	2.659000	0.90383	0.650000	0.86243	GCA	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414373.2		+	ENST00000334743.5	Missense_Mutation	SNP	14 : 102360847 - 102360847 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	400	6
PROS1	5627	broad.mit.edu	37	3	93611912	93611912	+	Nonsense_Mutation	SNP	G	G	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:93611912G>C	ENST00000394236.3	-	10	1336	c.1020C>G	c.(1018-1020)taC>taG	p.Y340*	PROS1_ENST00000407433.1_Nonsense_Mutation_p.Y209*	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	340	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TAGATTCTGCGTACAGTATCA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	77	79			NA	NA	3		NA											NA				93611912		2203	4300	6503	SO:0001587	stop_gained				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500	5627	5627			9456	protein-coding gene	gene with protein product		176880		PROS	NA	214811, 1833851	Standard	NM_000313	NM_000313	NA	Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1020C>G	3.37:g.93611912G>C	ENSP00000377783:p.Tyr340*	NA	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	37	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	G	36	5.885622	0.97068	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	.	.	.	4.47	2.05	0.26809	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4211	0.27073	0.7526:0.0:0.2474:0.0	.	.	.	.	X	340;209	.	ENSP00000377783:Y340X	Y	-	3	2	PROS1	95094602	1.000000	0.71417	0.997000	0.53966	0.557000	0.35523	0.858000	0.27845	0.263000	0.21812	-0.324000	0.08512	TAC	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317762.1		-	ENST00000394236.3	Nonsense_Mutation	SNP	3 : 93611912 - 93611912 C PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	185	61
PTRF	284119	broad.mit.edu	37	17	40557353	40557353	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:40557353C>T	ENST00000357037.5	-	2	944	c.525G>A	c.(523-525)tcG>tcA	p.S175S		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	175					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	p.S175S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GCAGCGCCTCCGACTCTTTCA	0.647		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)											81	88	86			NA	NA	17		NA											NA				40557353		2203	4300	6503	SO:0001819	synonymous_variant			AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469	284119	284119			9688	protein-coding gene	gene with protein product		603198			NA	9582279	Standard	NM_012232	NM_012232	NA	Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.525G>A	17.37:g.40557353C>T		NA	B2RAW7|O00535|Q6GMY1|Q96H74|Q9BT85|Q9HAP4	37	CCDS11425.1																																																																																			PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449938.1		-	ENST00000357037.5	Silent	SNP	17 : 40557353 - 40557353 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	630	203
RAMP3	10268	broad.mit.edu	37	7	45222846	45222846	+	Silent	SNP	C	C	T	rs138821752		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr7:45222846C>T	ENST00000496212.1	+	3	282	c.282C>T	c.(280-282)acC>acT	p.T94T	RAMP3_ENST00000481345.1_Silent_p.T94T|RAMP3_ENST00000242249.4_Silent_p.T94T			O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	94					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	GCTTCATCACCGGCATCCACA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	82	82	82		282	-8.7	0	7	dbSNP_134	82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RAMP3	NM_005856.2		0,3,6500	TT,TC,CC	NA	0.0233,0.0227,0.0231		94/149	45222846	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679	10268	10268		Receptor (G protein-coupled) activity modifying proteins	9845	protein-coding gene	gene with protein product		605155	receptor activity modifying protein 3, receptor (calcitonin) activity modifying protein 3		NA		Standard	NM_005856	NM_005856	NA	Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000496212.1:c.282C>T	7.37:g.45222846C>T		NA	Q7Z2Y1	37																																																																																				RAMP3-003	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353707.1		+	ENST00000496212.1	Silent	SNP	7 : 45222846 - 45222846 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	364	121
RBM24	221662	broad.mit.edu	37	6	17283114	17283114	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:17283114G>A	ENST00000379052.5	+	2	483	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	RBM24_ENST00000425446.2_Missense_Mutation_p.V25M|RBM24_ENST00000318204.5_Missense_Mutation_p.V38M	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	83	RRM.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			AAAGGCCAACGTGAACCTGGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	95	105			NA	NA	6		NA											NA				17283114		2203	4300	6503	SO:0001583	missense			BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183	221662	221662		RNA binding motif (RRM) containing	21539	protein-coding gene	gene with protein product			RNA-binding region (RNP1, RRM) containing 6	RNPC6	NA		Standard	NM_153020	NM_153020	NA	Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.247G>A	6.37:g.17283114G>A	ENSP00000368341:p.Val83Met	NA	Q6QDA4|Q8N9D3|Q96NI3	37	CCDS47378.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889107	0.91814	.	.	ENSG00000112183	ENST00000379052;ENST00000509686;ENST00000425446;ENST00000318204	T;D;T;T	0.84298	2.72;-1.83;1.47;2.72	4.8	4.8	0.61643	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.135582	0.48767	D	0.000169	D	0.93936	0.8059	H	0.95437	3.67	0.80722	D	1	D;P;P	0.65815	0.995;0.652;0.652	D;P;P	0.66084	0.941;0.459;0.459	D	0.95757	0.8797	10	0.87932	D	0	-12.3307	17.9074	0.88923	0.0:0.0:1.0:0.0	.	38;83;83	Q9BX46-2;Q9BX46;A8KAI7	.;RBM24_HUMAN;.	M	83;42;25;38	ENSP00000368341:V83M;ENSP00000426222:V42M;ENSP00000396898:V25M;ENSP00000319551:V38M	ENSP00000319551:V38M	V	+	1	0	RBM24	17391093	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.547000	0.98100	2.222000	0.72286	0.650000	0.86243	GTG	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039946.2		+	ENST00000379052.5	Missense_Mutation	SNP	6 : 17283114 - 17283114 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	183	23
RGL2	5863	broad.mit.edu	37	6	33263940	33263940	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:33263940G>A	ENST00000497454.1	-	6	1128	c.633C>T	c.(631-633)ctC>ctT	p.L211L	RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Silent_p.L129L|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	211	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CCCGGGACCGGAGATTGCGGA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	97	92			NA	NA	6		NA											NA				33263940		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441	5863	5863			9769	protein-coding gene	gene with protein product		602306	RAB2, member RAS oncogene family-like	RAB2L	NA	8976381	Standard		NM_001243738	NA	Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.633C>T	6.37:g.33263940G>A		NA	Q5STK0|Q9Y3F3	37	CCDS4774.1																																																																																			RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076098.2		-	ENST00000497454.1	Silent	SNP	6 : 33263940 - 33263940 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	640	6
RIMS4	140730	broad.mit.edu	37	20	43386349	43386349	+	Missense_Mutation	SNP	C	C	T	rs141614672	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:43386349C>T	ENST00000372851.3	-	4	479	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	RIMS4_ENST00000541604.2_Missense_Mutation_p.R139Q	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	138	C2.				exocytosis|neurotransmitter transport	cell junction|synapse		p.R138Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TGTCAGTCCCCGAGCCTGGAT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)						C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	124	102	109		416,413	4.8	0.8	20	dbSNP_134	109	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	RIMS4	NM_001205317.1,NM_182970.3	43,43	0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154	probably-damaging,probably-damaging	139/271,138/270	43386349	2,13004	2203	4300	6503	SO:0001583	missense				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098	140730	140730			16183	protein-coding gene	gene with protein product		611601	chromosome 20 open reading frame 190	C20orf190	NA	12620390	Standard	NM_182970	NM_182970	NA	Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.413G>A	20.37:g.43386349C>T	ENSP00000361942:p.Arg138Gln	NA	Q3MI44|Q5JWT7	37	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	34	5.371169	0.95923	0.0	2.33E-4	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.69806	-0.43;-0.43	5.76	4.82	0.62117	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.82240	0.4994	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70487	0.95;0.969	D	0.85425	0.1145	10	0.87932	D	0	.	14.8657	0.70412	0.0:0.9312:0.0:0.0688	.	139;138	E1P613;Q9H426	.;RIMS4_HUMAN	Q	138;139	ENSP00000361942:R138Q;ENSP00000439287:R139Q	ENSP00000361942:R138Q	R	-	2	0	RIMS4	42819763	1.000000	0.71417	0.813000	0.32504	0.910000	0.53928	6.089000	0.71384	1.457000	0.47850	0.655000	0.94253	CGG	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000101027.2		-	ENST00000372851.3	Missense_Mutation	SNP	20 : 43386349 - 43386349 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	433	129
RP11-468E2.4	0	broad.mit.edu	37	14	24624885	24624885	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:24624885T>C	ENST00000558468.1	+	6	902	c.902T>C	c.(901-903)gTg>gCg	p.V301A	RNF31_ENST00000382687.3_Missense_Mutation_p.V675A|RNF31_ENST00000559275.1_Missense_Mutation_p.V675A|RNF31_ENST00000324103.6_Missense_Mutation_p.V826A						NA											NA						ACCTTCTGTGTGCGCTGCAAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	105	105			NA	NA	14		NA											NA				24624885		1993	4179	6172	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000558468.1:c.902T>C	14.37:g.24624885T>C	ENSP00000457512:p.Val301Ala	NA		37		.	.	.	.	.	.	.	.	.	.	T	10.45	1.352802	0.24512	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.63096	-0.02;-0.02	5.2	5.2	0.72013	Zinc finger, C6HC-type (2);	0.069879	0.56097	D	0.000022	T	0.35537	0.0935	N	0.00152	-1.975	0.35483	D	0.798341	B;D;D	0.56746	0.081;0.977;0.971	B;P;P	0.58820	0.042;0.846;0.761	T	0.55010	-0.8207	10	0.16420	T	0.52	-16.726	10.3507	0.43934	0.0:0.0:0.1647:0.8353	.	585;826;675	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	A	268;826;675	ENSP00000315112:V826A;ENSP00000372134:V675A	ENSP00000315112:V826A	V	+	2	0	RNF31	23694725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.469000	0.53093	2.185000	0.69588	0.460000	0.39030	GTG	RP11-468E2.4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000416078.1		+	ENST00000558468.1	Missense_Mutation	SNP	14 : 24624885 - 24624885 C PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	681	19
RPS6KB1	6198	broad.mit.edu	37	17	58009016	58009016	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:58009016G>A	ENST00000406116.3	+	7	661	c.621G>A	c.(619-621)ggG>ggA	p.G207G	RPS6KB1_ENST00000393021.3_Silent_p.G154G|RPS6KB1_ENST00000225577.4_Silent_p.G207G|RPS6KB1_ENST00000443572.2_Silent_p.G184G			P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	207	Protein kinase.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TGGCTTTGGGGCATTTACATC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	64	63			NA	NA	17		NA											NA				58009016		2203	4300	6503	SO:0001819	synonymous_variant			M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443	6198	6198			10436	protein-coding gene	gene with protein product		608938	ribosomal protein S6 kinase, 70kD, polypeptide 1	STK14A	NA	1922062	Standard	NM_003161	NM_003161	NA	Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000406116.3:c.621G>A	17.37:g.58009016G>A		NA		37																																																																																				RPS6KB1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000319325.1		+	ENST00000406116.3	Silent	SNP	17 : 58009016 - 58009016 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	330	5
RPS6KB2	6199	broad.mit.edu	37	11	67200423	67200423	+	Splice_Site	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:67200423G>A	ENST00000312629.5	+	8	662	c.617G>A	c.(616-618)gGc>gAc	p.G206D	RPS6KB2_ENST00000539188.1_3'UTR|AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000524814.1_3'UTR	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	206	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCTTCCTCAGGCCACATCAAA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	45	43			NA	NA	11		NA											NA				67200423		2050	4199	6249	SO:0001630	splice_region_variant			AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634	6199	6199			10437	protein-coding gene	gene with protein product		608939	ribosomal protein S6 kinase, 70kD, polypeptide 2		NA	9878560, 9804755	Standard	NM_003952	XM_005274164	NA	Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.617-1G>A	11.37:g.67200423G>A		NA	B2RMZ9|O94809|Q9UEC1	37	CCDS41677.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.69|15.69	2.909408|2.909408	0.52439|0.52439	.|.	.|.	ENSG00000175634|ENSG00000175634	ENST00000524814|ENST00000312629	.|T	.|0.31510	.|1.49	4.76|4.76	4.76|4.76	0.60689|0.60689	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58308|0.58308	0.2113|0.2113	M|M	0.80422|0.80422	2.495|2.495	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.61778|0.61778	-0.6993|-0.6993	5|9	.|.	.|.	.|.	.|.	16.6904|16.6904	0.85320|0.85320	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|206;206	.|Q9BRS0;Q9UBS0	.|.;KS6B2_HUMAN	T|D	157|206	.|ENSP00000308413:G206D	.|.	A|G	+|+	1|2	0|0	RPS6KB2|RPS6KB2	66956999|66956999	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	9.087000|9.087000	0.94110|0.94110	2.461000|2.461000	0.83175|0.83175	0.561000|0.561000	0.74099|0.74099	GCC|GGC	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395508.1	Missense_Mutation	+	ENST00000312629.5	Splice_Site	SNP	11 : 67200423 - 67200423 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	193	68
RSPRY1	89970	broad.mit.edu	37	16	57238646	57238646	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:57238646C>A	ENST00000537866.1	+	2	949	c.76C>A	c.(76-78)Cac>Aac	p.H26N	RSPRY1_ENST00000394420.4_Missense_Mutation_p.H26N			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	26						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TCTCGAAGAGCACATAGCCCA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													206	211	209			NA	NA	16		NA											NA				57238646		2198	4300	6498	SO:0001583	missense			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579	89970	89970		RING-type (C3HC4) zinc fingers	29420	protein-coding gene	gene with protein product					NA	11853319	Standard	NM_133368	NM_133368	NA	Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.76C>A	16.37:g.57238646C>A	ENSP00000443176:p.His26Asn	NA	Q6UX21|Q8ND53	37	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469227	0.63625	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.84660	-1.88;-1.88	5.12	5.12	0.69794	.	0.163476	0.42821	D	0.000651	T	0.82157	0.4976	L	0.40543	1.245	0.48571	D	0.99967	P;B	0.42518	0.782;0.039	B;B	0.40256	0.324;0.005	D	0.84695	0.0725	10	0.66056	D	0.02	.	18.9378	0.92592	0.0:1.0:0.0:0.0	.	26;26	Q96DX4-2;Q96DX4	.;RSPRY_HUMAN	N	26	ENSP00000377942:H26N;ENSP00000443176:H26N	ENSP00000377942:H26N	H	+	1	0	RSPRY1	55796147	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.155000	0.64900	2.550000	0.86006	0.655000	0.94253	CAC	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432953.1		+	ENST00000537866.1	Missense_Mutation	SNP	16 : 57238646 - 57238646 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	749	7
SLC25A48	153328	broad.mit.edu	37	5	135188366	135188366	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:135188366G>A	ENST00000274513.5	+	4	449	c.277G>A	c.(277-279)Ggg>Agg	p.G93R	SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Missense_Mutation_p.G39R|SLC25A48_ENST00000412661.2_Missense_Mutation_p.G93R|SLC25A48_ENST00000420621.1_Missense_Mutation_p.G93R			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	93					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GCACCGCTGCGGGGAGCCAGA	0.667		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	5		NA											NA				135188366		1956	4132	6088	SO:0001583	missense				CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832	153328	153328		Solute carriers	30451	protein-coding gene	gene with protein product	HCC-down-regulated mitochondrial carrier protein				NA	15322095, 19303656	Standard	NM_145282	NM_145282	NA	Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000274513.5:c.277G>A	5.37:g.135188366G>A	ENSP00000274513:p.Gly93Arg	NA	Q8TAV9	37		.	.	.	.	.	.	.	.	.	.	G	6.814	0.519364	0.13005	.	.	ENSG00000145832	ENST00000274513;ENST00000420621;ENST00000433282;ENST00000412661	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.08	-8.67	0.00863	.	0.646404	0.16859	N	0.196603	T	0.43211	0.1237	N	0.10685	0.025	0.41440	D	0.987911	B;B	0.34147	0.002;0.438	B;B	0.23716	0.008;0.048	T	0.43114	-0.9411	10	0.20519	T	0.43	-15.6428	7.7379	0.28825	0.4958:0.2008:0.3033:0.0	.	93;93	Q6ZT89-3;Q6ZT89-2	.;.	R	93;93;39;93	ENSP00000274513:G93R;ENSP00000407973:G93R;ENSP00000399834:G39R;ENSP00000413049:G93R	ENSP00000274513:G93R	G	+	1	0	SLC25A48	135216265	0.965000	0.33210	0.005000	0.12908	0.036000	0.12997	0.890000	0.28295	-2.100000	0.00848	-1.773000	0.00660	GGG	SLC25A48-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000347064.1		+	ENST00000274513.5	Missense_Mutation	SNP	5 : 135188366 - 135188366 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	344	125
SLCO4A1	28231	broad.mit.edu	37	20	61300301	61300301	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:61300301C>T	ENST00000370507.1	+	10	1992	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	SLCO4A1_ENST00000470412.1_3'UTR|SLCO4A1_ENST00000217159.1_Silent_p.I632I			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	632					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CGGGGCCCATCGCCTTCGGCT	0.662		NA									OREG0026115	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		Pancreas(168;741 2006 10379 40139 45334)							NA				0													34	36	35			NA	NA	20		NA											NA				61300301		2202	4300	6502	SO:0001819	synonymous_variant			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187	28231	28231		Solute carriers	10953	protein-coding gene	gene with protein product		612436	solute carrier family 21 (organic anion transporter), member 12	SLC21A12	NA	10873595	Standard	NM_016354	NM_016354	NA	Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1896C>T	20.37:g.61300301C>T		1052	Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	37	CCDS13501.1																																																																																			SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080048.2		+	ENST00000370507.1	Silent	SNP	20 : 61300301 - 61300301 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	247	114
SORBS1	10580	broad.mit.edu	37	10	97096368	97096368	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr10:97096368G>A	ENST00000371227.4	-	28	3600	c.3411C>T	c.(3409-3411)agC>agT	p.S1137S	SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000361941.3_Silent_p.S1183S|SORBS1_ENST00000371246.2_Silent_p.S1042S|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371247.2_Silent_p.S1183S|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000277982.5_Silent_p.S1042S|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000353505.5_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1183					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTGGAAAAGCGCTACCCAGGG	0.617		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	80	84	82		3549,3126,,,,,	5.6	1	10		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron,intron,intron,intron,intron	SORBS1	NM_001034954.1,NM_001034955.1,NM_001034956.1,NM_001034957.1,NM_006434.2,NM_015385.2,NM_024991.1	,,,,,,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,,,,,,	1183/1293,1042/1152,,,,,	97096368	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637	10580	10580			14565	protein-coding gene	gene with protein product	c-Cbl-associated protein	605264	SH3-domain protein 5 (ponsin)	SH3D5	NA	10085297, 11001060	Standard		XM_005269405	NA	Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000371227.4:c.3411C>T	10.37:g.97096368G>A		NA	A0AED4|A6NEK3|A6NID8|A6NJS4|A7MD40|D3DR42|O43857|Q5T923|Q5T924|Q5T927|Q5T928|Q5T929|Q5T930|Q5T931|Q5T932|Q7LBE5|Q8IVK0|Q8IVQ4|Q96KF3|Q96KF4|Q9BX64|Q9BX65|Q9P2Q0|Q9UFT2|Q9UHN7|Q9Y338	37																																																																																				SORBS1-015	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000049528.2		-	ENST00000371227.4	Silent	SNP	10 : 97096368 - 97096368 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	378	203
SQLE	6713	broad.mit.edu	37	8	126030321	126030321	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr8:126030321G>A	ENST00000265896.5	+	8	2123	c.1225G>A	c.(1225-1227)Gca>Aca	p.A409T	SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	409					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTTGGGAGACGCATATAATAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	103	105			NA	NA	8		NA											NA				126030321		1828	4076	5904	SO:0001583	missense			D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	6713	6713	1.14.13.132		11279	protein-coding gene	gene with protein product	squalene monooxygenase	602019			NA	9286711	Standard	NM_003129	NM_003129	NA	Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.1225G>A	8.37:g.126030321G>A	ENSP00000265896:p.Ala409Thr	NA	Q9UEK6	37	CCDS47918.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039032	0.75617	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193;ENST00000518931	T;T;T	0.75050	-0.9;-0.9;-0.9	5.48	5.48	0.80851	Aromatic-ring hydroxylase-like (1);Squalene epoxidase (1);	0.000000	0.85682	D	0.000000	D	0.89639	0.6773	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91448	0.5179	10	0.72032	D	0.01	-14.8692	19.3542	0.94404	0.0:0.0:1.0:0.0	.	409	Q14534	ERG1_HUMAN	T	314;409;214;61	ENSP00000430331:A314T;ENSP00000265896:A409T;ENSP00000429916:A61T	ENSP00000265896:A409T	A	+	1	0	SQLE	126099503	1.000000	0.71417	0.950000	0.38849	0.012000	0.07955	9.609000	0.98334	2.575000	0.86900	0.655000	0.94253	GCA	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381362.1		+	ENST00000265896.5	Missense_Mutation	SNP	8 : 126030321 - 126030321 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	435	5
SUV39H2	79723	broad.mit.edu	37	10	14941644	14941644	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr10:14941644C>T	ENST00000313519.5	+	3	1007	c.776C>T	c.(775-777)gCg>gTg	p.A259V	DCLRE1C_ENST00000378289.4_Intron|SUV39H2_ENST00000378325.3_Missense_Mutation_p.A139V|SUV39H2_ENST00000354919.6_Missense_Mutation_p.A319V	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	319	SET.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						ACAGTGGATGCGGCTCGATAC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	152	160			NA	NA	10		NA											NA				14941644		2203	4300	6503	SO:0001583	missense			AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455	79723	79723		Chromatin-modifying enzymes / K-methyltransferases	17287	protein-coding gene	gene with protein product		606503			NA	11094092	Standard	NM_024670	NM_001193424	NA	Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000313519.5:c.776C>T	10.37:g.14941644C>T	ENSP00000319208:p.Ala259Val	NA	D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	37	CCDS7104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.625237|5.625237	0.96671|0.96671	.|.	.|.	ENSG00000152455|ENSG00000152455	ENST00000433779;ENST00000378325;ENST00000354919;ENST00000313519|ENST00000358298	D;D;D;D|.	0.93763|.	-3.28;-1.8;-3.28;-3.28|.	5.62|5.62	5.62|5.62	0.85841|0.85841	SET domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90985|0.90985	0.7165|0.7165	H|H	0.98314|0.98314	4.2|4.2	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.79108|.	0.992;0.945|.	D|D	0.93938|0.93938	0.7220|0.7220	10|5	0.87932|.	D|.	0|.	.|.	19.0078|19.0078	0.92859|0.92859	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	319;139|.	Q9H5I1;Q9H5I1-3|.	SUV92_HUMAN;.|.	V|W	79;139;319;259|85	ENSP00000388968:A79V;ENSP00000367576:A139V;ENSP00000346997:A319V;ENSP00000319208:A259V|.	ENSP00000319208:A259V|.	A|R	+|+	2|1	0|2	SUV39H2|SUV39H2	14981650|14981650	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.776000|7.776000	0.85560|0.85560	2.809000|2.809000	0.96659|0.96659	0.557000|0.557000	0.71058|0.71058	GCG|CGG	SUV39H2-008	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046953.2		+	ENST00000313519.5	Missense_Mutation	SNP	10 : 14941644 - 14941644 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	583	5
SYCP2L	221711	broad.mit.edu	37	6	10894138	10894138	+	Silent	SNP	A	A	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:10894138A>T	ENST00000283141.6	+	3	413	c.117A>T	c.(115-117)ggA>ggT	p.G39G	SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	39						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ATGATAAAGGATTTCAGAAAA	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	33	33			NA	NA	6		NA											NA				10894138		1798	4060	5858	SO:0001819	synonymous_variant			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157	221711	221711			21537	protein-coding gene	gene with protein product			chromosome 6 open reading frame 177	C6orf177	NA		Standard	NM_194299	NM_001040274	NA	Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.117A>T	6.37:g.10894138A>T		NA	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	37	CCDS43423.1																																																																																			SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039845.3		+	ENST00000283141.6	Silent	SNP	6 : 10894138 - 10894138 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	126	49
SYT10	341359	broad.mit.edu	37	12	33538128	33538128	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:33538128C>T	ENST00000228567.3	-	4	1472	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	SYT10_ENST00000535526.1_Silent_p.A211A	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	392	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TAATATCCATCGCCTTCAGAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	136	145			NA	NA	12		NA											NA				33538128		2203	4300	6503	SO:0001819	synonymous_variant			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975	341359	341359		Synaptotagmins	19266	protein-coding gene	gene with protein product					NA		Standard	NM_198992	NM_198992	NA	Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1176G>A	12.37:g.33538128C>T		NA	Q495U2	37	CCDS8732.1																																																																																			SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403222.1		-	ENST00000228567.3	Silent	SNP	12 : 33538128 - 33538128 T PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	476	137
TMIGD2	126259	broad.mit.edu	37	19	4298112	4298113	+	Frame_Shift_Ins	INS	-	-	G			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:4298112_4298113insG	ENST00000301272.2	-	2	321_322	c.276_277insC	c.(274-279)cccagcfs	p.S93fs	TMIGD2_ENST00000600114.1_Intron|TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000595645.1_Frame_Shift_Ins_p.S93fs	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	93	Ig-like.					integral to membrane		p.S93R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAGATGGCTGGGTGCCTGCC	0.658		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)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05				126259	126259		Immunoglobulin superfamily / Immunoglobulin-like domain containing	28324	protein-coding gene	gene with protein product		614715			NA		Standard	NM_144615	NM_144615	NA	Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.277dupC	19.37:g.4298115_4298115dupG	ENSP00000301272:p.Ser93fs	NA	Q6UW59	37	CCDS12126.1																																																																																			TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458088.1		-	ENST00000301272.2	Frame_Shift_Ins	INS	19 : 4298112 - 4298113 G PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	372	114
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	GRCh37	CM056413|CM920678	TP53	M	rs28934574	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.844C>T	17.37:g.7577094G>A	ENSP00000391127:p.Arg282Trp	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577094 - 7577094 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	88	52
TPTE	7179	broad.mit.edu	37	21	10942745	10942745	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr21:10942745C>A	ENST00000298232.7	-	12	1009	c.642G>T	c.(640-642)agG>agT	p.R214S	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.R232S|TPTE_ENST00000342420.5_Missense_Mutation_p.R194S	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	232					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAATCCATCCCTTGTGTATC	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													484	423	444			NA	NA	21		NA											NA				10942745		2203	4300	6503	SO:0001583	missense			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391	7179	7179		Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs	12023	protein-coding gene	gene with protein product	PTEN-related tyrosine phosphatase, cancer/testis antigen 44	604336			NA	10830953, 14659893	Standard		NM_001290224	NA	Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000298232.7:c.642G>T	21.37:g.10942745C>A	ENSP00000298232:p.Arg214Ser	NA	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	37	CCDS33512.1	.	.	.	.	.	.	.	.	.	.	.	10.06	1.246943	0.22796	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.29142	1.58;1.58;1.58	2.07	0.162	0.14981	Phosphatase tensin type (1);	0.162065	0.52532	U	0.000067	T	0.24890	0.0604	L	0.46157	1.445	0.26087	N	0.981001	B;B;B	0.33345	0.409;0.409;0.012	B;B;B	0.37422	0.196;0.249;0.008	T	0.16188	-1.0411	10	0.66056	D	0.02	-10.1256	6.055	0.19807	0.0:0.6974:0.0:0.3026	.	194;214;232	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	S	214;232;194	ENSP00000298232:R214S;ENSP00000355208:R232S;ENSP00000344441:R194S	ENSP00000298232:R214S	R	-	3	2	TPTE	9964616	0.996000	0.38824	0.396000	0.26296	0.598000	0.36846	0.311000	0.19380	0.028000	0.15324	0.194000	0.17425	AGG	TPTE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157412.2		-	ENST00000298232.7	Missense_Mutation	SNP	21 : 10942745 - 10942745 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	737	144
TUBA3C	7278	broad.mit.edu	37	13	19751734	19751734	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr13:19751734G>A	ENST00000400113.3	-	4	493	c.389C>T	c.(388-390)aCg>aTg	p.T130M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	130					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTGCAGTCCCGTGCACAGATC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	48	48			NA	NA	13		NA											NA				19751734		2203	4300	6503	SO:0001583	missense			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033	7278	7278		Tubulins	12408	protein-coding gene	gene with protein product		602528	tubulin, alpha 2	TUBA2	NA	9465305	Standard	NM_006001	NM_006001	NA	Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.389C>T	13.37:g.19751734G>A	ENSP00000382982:p.Thr130Met	NA	A6NJQ0|Q5W099|Q6PEY3|Q96F18	37	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	9.895	1.205228	0.22205	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.68624	-0.34	1.19	1.19	0.21007	.	0.000000	0.48286	U	0.000184	T	0.70439	0.3224	.	.	.	0.40500	D	0.980633	.	.	.	.	.	.	T	0.72763	-0.4195	7	0.87932	D	0	.	8.3041	0.32032	0.0:0.0:1.0:0.0	.	.	.	.	M	130	ENSP00000382982:T130M	ENSP00000354037:T130M	T	-	2	0	TUBA3C	18649734	1.000000	0.71417	0.920000	0.36463	0.408000	0.30992	4.910000	0.63321	0.966000	0.38159	0.162000	0.16502	ACG	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044007.2		-	ENST00000400113.3	Missense_Mutation	SNP	13 : 19751734 - 19751734 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	186	68
UNC13A	23025	broad.mit.edu	37	19	17766751	17766751	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:17766751G>A	ENST00000519716.2	-	10	1223	c.1224C>T	c.(1222-1224)ccC>ccT	p.P408P	UNC13A_ENST00000428389.2_Silent_p.P496P|UNC13A_ENST00000550896.1_Silent_p.P408P|UNC13A_ENST00000551649.1_Silent_p.P408P|UNC13A_ENST00000252773.7_Silent_p.P408P|UNC13A_ENST00000552293.1_Silent_p.P408P	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	408					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCACCTTGTCGGGCGTGGCTG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4031		0,1,2015	22	27	25		1224	-8.5	0	19		25	1,8337		0,1,4168	no	coding-synonymous	UNC13A	NM_001080421.2		0,2,6183	AA,AG,GG	NA	0.012,0.0248,0.0162		408/1704	17766751	2,12368	2016	4169	6185	SO:0001819	synonymous_variant			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477	23025	23025			23150	protein-coding gene	gene with protein product		609894			NA		Standard	XM_038604	NM_001080421	NA	Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1224C>T	19.37:g.17766751G>A		NA		37	CCDS46013.2																																																																																			UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376169.2		-	ENST00000519716.2	Silent	SNP	19 : 17766751 - 17766751 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	86	24
UPF1	5976	broad.mit.edu	37	19	18971174	18971174	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:18971174G>A	ENST00000262803.5	+	16	2499	c.2227G>A	c.(2227-2229)Gat>Aat	p.D743N	UPF1_ENST00000599848.1_Missense_Mutation_p.D754N	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	754					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCCCCAACCCGATAAACCGAT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	149	155			NA	NA	19		NA											NA				18971174		2203	4300	6503	SO:0001583	missense			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007	5976	5976			9962	protein-coding gene	gene with protein product	UP Frameshift 1, smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)	601430	regulator of nonsense transcripts 1	RENT1	NA	8855285, 9064659	Standard	NM_002911	XM_005260015	NA	Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000262803.5:c.2227G>A	19.37:g.18971174G>A	ENSP00000262803:p.Asp743Asn	NA	O00239|O43343|Q86Z25|Q92842	37	CCDS12386.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786634	0.49997	.	.	ENSG00000005007	ENST00000262803	D	0.82619	-1.63	4.62	4.62	0.57501	.	0.049115	0.85682	D	0.000000	T	0.70107	0.3186	N	0.11756	0.17	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.64875	-0.6304	10	0.26408	T	0.33	-36.0408	16.4462	0.83935	0.0:0.0:1.0:0.0	.	754;743	Q92900;Q92900-2	RENT1_HUMAN;.	N	743	ENSP00000262803:D743N	ENSP00000262803:D743N	D	+	1	0	UPF1	18832174	1.000000	0.71417	0.995000	0.50966	0.693000	0.40251	9.369000	0.97156	2.108000	0.64289	0.478000	0.44815	GAT	UPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464683.1		+	ENST00000262803.5	Missense_Mutation	SNP	19 : 18971174 - 18971174 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	680	5
USH2A	7399	broad.mit.edu	37	1	216144042	216144042	+	Silent	SNP	G	G	A	rs147615382		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:216144042G>A	ENST00000307340.3	-	36	7268	c.6882C>T	c.(6880-6882)taC>taT	p.Y2294Y	USH2A_ENST00000366943.2_Silent_p.Y2294Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2294	Fibronectin type-III 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGCAAATCCGTAAGCACGAT	0.418		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		2,4404	4.2+/-10.8	0,2,2201	112	106	108		6882	-1.1	0.2	1	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	USH2A	NM_206933.2		0,3,6500	AA,AG,GG	NA	0.0116,0.0454,0.0231		2294/5203	216144042	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6882C>T	1.37:g.216144042G>A		NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1																																																																																			USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Silent	SNP	1 : 216144042 - 216144042 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	629	5
WNT6	7475	broad.mit.edu	37	2	219735855	219735855	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:219735855G>A	ENST00000233948.3	+	2	404	c.187G>A	c.(187-189)Gca>Aca	p.A63T	WNT6_ENST00000486233.1_Intron	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	63					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGTGGTGGCAGAGCTAGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	61	56			NA	NA	2		NA											NA				219735855		2203	4298	6501	SO:0001583	missense			AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596	7475	7475		Wingless-type MMTV integration sites	12785	protein-coding gene	gene with protein product		604663			NA	10343101, 11350055	Standard	NM_006522	NM_006522	NA	Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.187G>A	2.37:g.219735855G>A	ENSP00000233948:p.Ala63Thr	NA	Q9H1J6|Q9H238	37	CCDS2425.1	.	.	.	.	.	.	.	.	.	.	g	12.69	2.013700	0.35511	.	.	ENSG00000115596	ENST00000233948	T	0.76448	-1.02	5.17	5.17	0.71159	.	0.451424	0.24781	N	0.035645	T	0.63581	0.2523	L	0.31926	0.97	0.24988	N	0.991557	B	0.16396	0.017	B	0.19391	0.025	T	0.46386	-0.9195	10	0.14252	T	0.57	.	7.7483	0.28881	0.0881:0.1792:0.7326:0.0	.	63	Q9Y6F9	WNT6_HUMAN	T	63	ENSP00000233948:A63T	ENSP00000233948:A63T	A	+	1	0	WNT6	219444099	0.948000	0.32251	0.996000	0.52242	0.887000	0.51463	1.737000	0.38197	2.407000	0.81776	0.586000	0.80456	GCA	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256727.2		+	ENST00000233948.3	Missense_Mutation	SNP	2 : 219735855 - 219735855 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	652	327
ZFYVE26	23503	broad.mit.edu	37	14	68260952	68260952	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:68260952G>A	ENST00000347230.4	-	13	2475	c.2337C>T	c.(2335-2337)ggC>ggT	p.G779G	ZFYVE26_ENST00000555452.1_Silent_p.G779G	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	779					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTCTGTCTCGGCCATCTACAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	182	192			NA	NA	14		NA											NA				68260952		2203	4300	6503	SO:0001819	synonymous_variant			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121	23503	23503		Zinc fingers, FYVE domain containing	20761	protein-coding gene	gene with protein product	spastizin, FYVE-CENT	612012	spastic paraplegia 15 (complicated, autosomal recessive)	SPG15	NA	9205841, 18394578	Standard	NM_015346	NM_015346	NA	Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.2337C>T	14.37:g.68260952G>A		NA	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	37	CCDS9788.1																																																																																			ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412736.2		-	ENST00000347230.4	Silent	SNP	14 : 68260952 - 68260952 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	646	6
ZFYVE26	23503	broad.mit.edu	37	14	68238816	68238816	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:68238816G>A	ENST00000347230.4	-	28	5570	c.5432C>T	c.(5431-5433)cCg>cTg	p.P1811L	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P1811L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1811					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGTCTCATCCGGTACCCACTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	39	40			NA	NA	14		NA											NA				68238816		2203	4300	6503	SO:0001583	missense			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121	23503	23503		Zinc fingers, FYVE domain containing	20761	protein-coding gene	gene with protein product	spastizin, FYVE-CENT	612012	spastic paraplegia 15 (complicated, autosomal recessive)	SPG15	NA	9205841, 18394578	Standard	NM_015346	NM_015346	NA	Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5432C>T	14.37:g.68238816G>A	ENSP00000251119:p.Pro1811Leu	NA	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269444	0.80469	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.49720	0.77;0.77	5.76	5.76	0.90799	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.77260	0.4104	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.81780	-0.0776	10	0.87932	D	0	-14.759	19.9574	0.97228	0.0:0.0:1.0:0.0	.	1811;1811	G3V2D8;Q68DK2	.;ZFY26_HUMAN	L	1811;1790;1811	ENSP00000251119:P1811L;ENSP00000450603:P1811L	ENSP00000251119:P1811L	P	-	2	0	ZFYVE26	67308569	1.000000	0.71417	0.432000	0.26747	0.625000	0.37756	7.804000	0.85993	2.715000	0.92844	0.561000	0.74099	CCG	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412736.2		-	ENST00000347230.4	Missense_Mutation	SNP	14 : 68238816 - 68238816 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	124	54
ZNF831	128611	broad.mit.edu	37	20	57769643	57769643	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:57769643G>A	ENST00000371030.2	+	1	3569	c.3569G>A	c.(3568-3570)cGc>cAc	p.R1190H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1190						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCCTGAGCCGCAGTGTCCCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	43	41			NA	NA	20		NA											NA				57769643		2073	4204	6277	SO:0001583	missense			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203	128611	128611			16167	protein-coding gene	gene with protein product			chromosome 20 open reading frame 174	C20orf174	NA		Standard	NM_178457	NM_178457	NA	Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3569G>A	20.37:g.57769643G>A	ENSP00000360069:p.Arg1190His	NA	Q5TDR4|Q8TCP0	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708768	0.68615	.	.	ENSG00000124203	ENST00000371030	T	0.08896	3.04	5.05	5.05	0.67936	.	0.227351	0.29355	N	0.012399	T	0.21921	0.0528	L	0.52573	1.65	0.31710	N	0.639596	D	0.89917	1.0	D	0.71656	0.974	T	0.03112	-1.1071	10	0.87932	D	0	-16.6053	12.8728	0.57975	0.0814:0.0:0.9186:0.0	.	1190	Q5JPB2	ZN831_HUMAN	H	1190	ENSP00000360069:R1190H	ENSP00000360069:R1190H	R	+	2	0	ZNF831	57203038	0.988000	0.35896	1.000000	0.80357	0.678000	0.39670	3.840000	0.55843	2.352000	0.79861	0.609000	0.83330	CGC	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079916.2		+	ENST00000371030.2	Missense_Mutation	SNP	20 : 57769643 - 57769643 A PAAD-TCGA-S4-A8RO-Tumor-SM-5PNP5	233	5
