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
ACTG2	72	broad.mit.edu	37	2	74146664	74146664	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:74146664G>T	ENST00000409731.3	+	8	1085	c.964G>T	c.(964-966)Gag>Tag	p.E322*	ACTG2_ENST00000345517.3_Nonsense_Mutation_p.E365*|ACTG2_ENST00000409624.1_Nonsense_Mutation_p.E365*	NM_001199893.1	NP_001186822.1	P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	365					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						TGAGTATGATGAGGCAGGGCC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	75	76			NA	NA	2		NA											NA				74146664		2203	4300	6503	SO:0001587	stop_gained				CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017	72	72			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3	NA	1710027, 1673027	Standard	NM_001615	NM_001199893	NA	Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409731.3:c.964G>T	2.37:g.74146664G>T	ENSP00000386929:p.Glu322*	NA	B2R7E7|D6W5H8|P12718|Q504R1|Q6FI22	37	CCDS56124.1	.	.	.	.	.	.	.	.	.	.	G	36	5.762352	0.96906	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	.	.	.	4.8	4.8	0.61643	.	0.502454	0.17436	N	0.174289	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.1435	0.86760	0.0:0.0:1.0:0.0	.	.	.	.	X	322;365;365	.	ENSP00000295137:E365X	E	+	1	0	ACTG2	74000172	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.601000	0.98297	2.651000	0.90000	0.591000	0.81541	GAG	ACTG2-008	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328090.2		+	ENST00000409731.3	Nonsense_Mutation	SNP	2 : 74146664 - 74146664 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	299	6
ACTL9	284382	broad.mit.edu	37	19	8807951	8807951	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:8807951G>C	ENST00000324436.3	-	1	1221	c.1101C>G	c.(1099-1101)caC>caG	p.H367Q		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	367						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCACCACCACGTGGGTCTCGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	28	27			NA	NA	19		NA											NA				8807951		2203	4298	6501	SO:0001583	missense				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786	284382	284382			28494	protein-coding gene	gene with protein product					NA		Standard	NM_178525	NM_178525	NA	Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1101C>G	19.37:g.8807951G>C	ENSP00000316674:p.His367Gln	NA	A8K893|Q6X960	37	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	g	3.006	-0.204896	0.06180	.	.	ENSG00000181786	ENST00000324436	T	0.07444	3.19	4.51	2.29	0.28610	.	0.738936	0.11482	U	0.559628	T	0.05227	0.0139	N	0.17564	0.495	0.09310	N	1	B	0.12630	0.006	B	0.19148	0.024	T	0.38243	-0.9670	10	0.87932	D	0	.	3.6914	0.08347	0.088:0.316:0.4331:0.1629	.	367	Q8TC94	ACTL9_HUMAN	Q	367	ENSP00000316674:H367Q	ENSP00000316674:H367Q	H	-	3	2	ACTL9	8668951	0.001000	0.12720	0.084000	0.20598	0.088000	0.18126	0.676000	0.25247	0.604000	0.29930	-0.482000	0.04802	CAC	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459953.1		-	ENST00000324436.3	Missense_Mutation	SNP	19 : 8807951 - 8807951 C PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	215	34
ACTRT1	139741	broad.mit.edu	37	X	127185417	127185417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:127185417G>A	ENST00000371124.3	-	1	965	c.769C>T	c.(769-771)Caa>Taa	p.Q257*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	257						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCGGGCACTTGGTACAGCTCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	114	118			NA	NA	X		NA											NA				127185417		2203	4300	6503	SO:0001587	stop_gained			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165	139741	139741			24027	protein-coding gene	gene with protein product		300487			NA	12243744	Standard	NM_138289	NM_138289	NA	Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.769C>T	X.37:g.127185417G>A	ENSP00000360165:p.Gln257*	NA	Q6X7C1|Q96L10	37	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811660	0.50527	.	.	ENSG00000123165	ENST00000371124	.	.	.	3.58	0.589	0.17452	.	0.537891	0.16370	N	0.217347	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.9033	0.41362	0.0:0.0:0.4788:0.5212	.	.	.	.	X	257	.	ENSP00000360165:Q257X	Q	-	1	0	ACTRT1	127013098	1.000000	0.71417	0.001000	0.08648	0.023000	0.10783	1.058000	0.30504	0.001000	0.14605	0.600000	0.82982	CAA	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058192.1		-	ENST00000371124.3	Nonsense_Mutation	SNP	X : 127185417 - 127185417 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	416	6
ADAMTS2	9509	broad.mit.edu	37	5	178541162	178541162	+	Silent	SNP	G	G	A	rs79606317		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:178541162G>A	ENST00000251582.7	-	22	3443	c.3342C>T	c.(3340-3342)aaC>aaT	p.N1114N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1114					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1114N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGTCAATGTCGTTGTGCTTCC	0.587		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	EXOME	NA	NA	5e-04	SNP								NA				1	Substitution - coding silent(1)	large_intestine(1)						G		0,4406		0,0,2203	192	148	163		3342	-7.7	0.7	5	dbSNP_131	163	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ADAMTS2	NM_014244.4		0,3,6500	AA,AG,GG	NA	0.0349,0.0,0.0231		1114/1212	178541162	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116	9509	9509		ADAM metallopeptidases with thrombospondin type 1 motif	218	protein-coding gene	gene with protein product	procollagen I N-proteinase, procollagen N-endopeptidase	604539	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2		NA	10094461, 15373769	Standard	NM_014244	NM_014244	NA	Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3342C>T	5.37:g.178541162G>A		NA		37	CCDS4444.1																																																																																			ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253507.1		-	ENST00000251582.7	Silent	SNP	5 : 178541162 - 178541162 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	299	16
ADAMTS4	9507	broad.mit.edu	37	1	161166670	161166670	+	Splice_Site	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:161166670G>A	ENST00000367996.5	-	2	1062	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	ADAMTS4_ENST00000367995.3_Splice_Site_p.R212C	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	NA					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GAAGCAAAGCGCTGTAGAGAA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	125	123			NA	NA	1		NA											NA				161166670		2203	4300	6503	SO:0001630	splice_region_variant			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859	9507	9507		ADAM metallopeptidases with thrombospondin type 1 motif	220	protein-coding gene	gene with protein product		603876	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4		NA	10094461	Standard	NM_005099	NM_005099	NA	Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.634-1C>T	1.37:g.161166670G>A		NA	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	37	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989431	0.74589	.	.	ENSG00000158859	ENST00000367996;ENST00000367995	T;T	0.76839	-0.51;-1.05	4.64	4.64	0.57946	Metallopeptidase, catalytic domain (1);	0.197716	0.32548	N	0.005951	T	0.75287	0.3829	L	0.27053	0.805	0.54753	D	0.999987	D;D	0.89917	1.0;0.982	D;P	0.83275	0.996;0.75	T	0.79671	-0.1706	10	0.87932	D	0	.	11.7012	0.51571	0.0:0.0:0.823:0.177	.	212;212	Q5VTW1;O75173	.;ATS4_HUMAN	C	212	ENSP00000356975:R212C;ENSP00000356974:R212C	ENSP00000356974:R212C	R	-	1	0	ADAMTS4	159433294	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.564000	0.67359	2.418000	0.82041	0.650000	0.86243	CGC	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083066.2	Missense_Mutation	-	ENST00000367996.5	Splice_Site	SNP	1 : 161166670 - 161166670 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	1057	182
ADCY9	115	broad.mit.edu	37	16	4164208	4164208	+	Silent	SNP	G	G	A	rs73492586	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:4164208G>A	ENST00000294016.3	-	2	1774	c.1236C>T	c.(1234-1236)gcC>gcT	p.A412A		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	412	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCAGGGCGTGGGCAGACTTGT	0.512		NA											G	12	0.01	0.02	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0055	1	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								G		74,4320	67.6+/-105.2	0,74,2123	70	72	72		1236	-7.5	0.6	16	dbSNP_130	72	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ADCY9	NM_001116.3		0,77,6420	AA,AG,GG	NA	0.0349,1.6841,0.5926		412/1354	4164208	77,12917	2197	4300	6497	SO:0001819	synonymous_variant			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	115	115	4.6.1.1	Adenylate cyclases	240	protein-coding gene	gene with protein product		603302			NA	9628827	Standard		NM_001116	NA	Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1236C>T	16.37:g.4164208G>A		NA	A7E2V5|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	37	CCDS32382.1																																																																																			ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438076.1		-	ENST00000294016.3	Silent	SNP	16 : 4164208 - 4164208 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	379	74
AHNAK2	113146	broad.mit.edu	37	14	105412337	105412337	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:105412337G>A	ENST00000557457.1	-	2	24				AHNAK2_ENST00000333244.5_Missense_Mutation_p.P3151S			Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	NA						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGAACGACGGCATCTTGAAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	138	157			NA	NA	14		NA											NA				105412337		1926	4055	5981	SO:0001627	intron_variant			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567	113146	113146			20125	protein-coding gene	gene with protein product		608570	chromosome 14 open reading frame 78	C14orf78	NA	15007166	Standard	NM_138420	NM_138420	NA	Approved		uc010axc.1	Q8IVF2		ENST00000557457.1:c.220-5022C>T	14.37:g.105412337G>A		NA	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	37		.	.	.	.	.	.	.	.	.	.	N	11.15	1.553486	0.27739	.	.	ENSG00000185567	ENST00000333244	T	0.03152	4.03	3.29	3.29	0.37713	.	.	.	.	.	T	0.23649	0.0572	M	0.93106	3.38	0.35976	D	0.8357	D	0.89917	1.0	D	0.87578	0.998	T	0.48790	-0.9004	9	0.52906	T	0.07	.	14.1401	0.65313	0.0:0.0:1.0:0.0	.	3151	Q8IVF2	AHNK2_HUMAN	S	3151	ENSP00000353114:P3151S	ENSP00000353114:P3151S	P	-	1	0	AHNAK2	104483382	0.998000	0.40836	0.775000	0.31657	0.006000	0.05464	2.062000	0.41413	1.372000	0.46190	0.313000	0.20887	CCG	AHNAK2-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410299.1		-	ENST00000557457.1	Intron	SNP	14 : 105412337 - 105412337 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	816	7
AHNAK2	113146	broad.mit.edu	37	14	105413912	105413912	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:105413912C>T	ENST00000557457.1	-	1	24				AHNAK2_ENST00000333244.5_Missense_Mutation_p.D2626N			Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	NA						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGCGCACCATCCAGCTTTGCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	179	174			NA	NA	14		NA											NA				105413912		1916	4110	6026	SO:0001627	intron_variant			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567	113146	113146			20125	protein-coding gene	gene with protein product		608570	chromosome 14 open reading frame 78	C14orf78	NA	15007166	Standard	NM_138420	NM_138420	NA	Approved		uc010axc.1	Q8IVF2		ENST00000557457.1:c.219+6305G>A	14.37:g.105413912C>T		NA	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	37		.	.	.	.	.	.	.	.	.	.	c	13.05	2.120665	0.37436	.	.	ENSG00000185567	ENST00000333244	T	0.01629	4.72	2.6	2.6	0.31112	.	.	.	.	.	T	0.02156	0.0067	M	0.70903	2.155	0.09310	N	1	P	0.40834	0.73	B	0.34385	0.181	T	0.42582	-0.9443	9	0.21540	T	0.41	.	4.3944	0.11356	0.0:0.7139:0.0:0.2861	.	2626	Q8IVF2	AHNK2_HUMAN	N	2626	ENSP00000353114:D2626N	ENSP00000353114:D2626N	D	-	1	0	AHNAK2	104484957	0.000000	0.05858	0.005000	0.12908	0.015000	0.08874	-0.581000	0.05820	1.000000	0.39049	0.306000	0.20318	GAT	AHNAK2-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410299.1		-	ENST00000557457.1	Intron	SNP	14 : 105413912 - 105413912 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	1268	9
AMY2A	279	broad.mit.edu	37	1	104160198	104160198	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:104160198T>G	ENST00000414303.2	+	1	200	c.136T>G	c.(136-138)Tat>Gat	p.Y46D		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	46					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	ATGTGAGCGATATTTAGCTCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													276	228	244			NA	NA	1		NA											NA				104160198		2201	4279	6480	SO:0001583	missense			BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	279	279	3.2.1.1		477	protein-coding gene	gene with protein product		104650	amylase, alpha 2A; pancreatic	AMY2	NA	3260028	Standard	NM_000699	NM_000699	NA	Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.136T>G	1.37:g.104160198T>G	ENSP00000397582:p.Tyr46Asp	NA	Q9UBH3	37	CCDS783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	15.43|15.43	2.831461|2.831461	0.50845|0.50845	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000423678|ENST00000414303;ENST00000393932	.|D	.|0.99663	.|-6.33	3.22|3.22	3.22|3.22	0.36961|0.36961	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	.|0.056220	.|0.64402	.|D	.|0.000001	D|D	0.99462|0.99462	0.9809|0.9809	M|M	0.82132|0.82132	2.575|2.575	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.97110	.|1.0;0.985	D|D	0.98570|0.98570	1.0645|1.0645	5|10	.|0.87932	.|D	.|0	.|.	11.6147|11.6147	0.51083|0.51083	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|46;46	.|B9EJG1;P04746	.|.;AMYP_HUMAN	R|D	44|46	.|ENSP00000397582:Y46D	.|ENSP00000377509:Y46D	I|Y	+|+	2|1	0|0	AMY2A|AMY2A	103961721|103961721	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.474000|0.474000	0.32979|0.32979	7.267000|7.267000	0.78462|0.78462	1.455000|1.455000	0.47813|0.47813	0.374000|0.374000	0.22700|0.22700	ATA|TAT	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030315.1		+	ENST00000414303.2	Missense_Mutation	SNP	1 : 104160198 - 104160198 G PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	1167	360
ANAPC4	29945	broad.mit.edu	37	4	25395511	25395511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr4:25395511C>T	ENST00000315368.3	+	11	1016	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.Q292*	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	292					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	p.Q292*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CAAGTTTGTGCAGGTAAAGCA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	kidney(1)											81	76	78			NA	NA	4		NA											NA				25395511		2203	4300	6503	SO:0001587	stop_gained			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900	29945	29945		Anaphase promoting complex subunits	19990	protein-coding gene	gene with protein product		606947			NA	6180011	Standard	NM_013367	NM_013367	NA	Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.874C>T	4.37:g.25395511C>T	ENSP00000318775:p.Gln292*	NA	A8K8H1|Q6PCC6|Q9NSH6	37	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	C	39	7.341870	0.98224	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-20.3366	20.394	0.98981	0.0:1.0:0.0:0.0	.	.	.	.	X	292	.	ENSP00000318775:Q292X	Q	+	1	0	ANAPC4	25004609	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.162000	0.77515	2.830000	0.97506	0.585000	0.79938	CAG	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214986.1		+	ENST00000315368.3	Nonsense_Mutation	SNP	4 : 25395511 - 25395511 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	197	4
ANKRD11	29123	broad.mit.edu	37	16	89350085	89350085	+	Silent	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:89350085C>A	ENST00000301030.4	-	9	3325	c.2865G>T	c.(2863-2865)ctG>ctT	p.L955L	ANKRD11_ENST00000378330.2_Silent_p.L955L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	955	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGCAGCTCTCCAGGGCGTCCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	86	83			NA	NA	16		NA											NA				89350085		2198	4300	6498	SO:0001819	synonymous_variant			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522	29123	29123		Ankyrin repeat domain containing	21316	protein-coding gene	gene with protein product		611192			NA	11483580	Standard	NM_013275	NM_001256182	NA	Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2865G>T	16.37:g.89350085C>A		NA	Q6NTG1|Q6QMF8	37	CCDS32513.1																																																																																			ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430462.3		-	ENST00000301030.4	Silent	SNP	16 : 89350085 - 89350085 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	546	115
AP000304.12	0	broad.mit.edu	37	21	35281465	35281465	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr21:35281465C>T	ENST00000429238.1	-	2	93	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	ATP5O_ENST00000290299.2_Silent_p.V83V						NA											NA						TGGAACGCTTCACATAGGGAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	89	93			NA	NA	21		NA											NA				35281465		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000429238.1:c.94G>A	21.37:g.35281465C>T	ENSP00000394107:p.Glu32Lys	NA		37		.	.	.	.	.	.	.	.	.	.	C	7.061	0.566329	0.13560	.	.	ENSG00000249209	ENST00000429238	.	.	.	5.61	-11.2	0.00127	.	.	.	.	.	T	0.29976	0.0750	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39165	-0.9627	4	.	.	.	-28.5225	0.4541	0.00506	0.2592:0.2488:0.266:0.226	.	.	.	.	K	32	.	.	E	-	1	0	AP000304.12	34203335	0.001000	0.12720	0.002000	0.10522	0.717000	0.41224	-1.870000	0.01641	-2.262000	0.00690	-0.188000	0.12872	GAA	AP000304.12-001	PUTATIVE	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000368258.1		-	ENST00000429238.1	Missense_Mutation	SNP	21 : 35281465 - 35281465 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	378	70
ASNSD1	54529	broad.mit.edu	37	2	190535201	190535201	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:190535201C>T	ENST00000260952.4	+	6	2094	c.1681C>T	c.(1681-1683)Cta>Tta	p.L561L	ASNSD1_ENST00000607062.1_Silent_p.L80L	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	561	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TGTCTCCTTTCTAAATTCTCT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	72	71			NA	NA	2		NA											NA				190535201		2203	4300	6503	SO:0001819	synonymous_variant			AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381	54529	54529			24910	protein-coding gene	gene with protein product					NA		Standard	NM_019048	NM_019048	NA	Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1681C>T	2.37:g.190535201C>T		NA	D3DPH6|Q3LIC3|Q4ZG45	37	CCDS2300.1																																																																																			ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255919.3		+	ENST00000260952.4	Silent	SNP	2 : 190535201 - 190535201 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	598	108
ATP6V1H	51606	broad.mit.edu	37	8	54684564	54684564	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:54684564C>T	ENST00000355221.3	-	9	1539	c.980G>A	c.(979-981)aGt>aAt	p.S327N	ATP6V1H_ENST00000359530.2_Missense_Mutation_p.S345N|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.S305N|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.S345N	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	345					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GTCCTGGACACTCTCTCCAAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	120	123			NA	NA	8		NA											NA				54684564		2203	4300	6503	SO:0001583	missense			AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249	51606	51606		ATPases / V-type	18303	protein-coding gene	gene with protein product	vacuolar ATP synthase subunit H	608861	ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H		NA	9620685, 10810093	Standard	NM_015941	NM_015941	NA	Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000355221.3:c.980G>A	8.37:g.54684564C>T	ENSP00000347359:p.Ser327Asn	NA	B3KMR0|Q6PK44|Q9H3E3|Q9Y300	37	CCDS6154.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835276	0.71373	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774	.	.	.	5.31	5.31	0.75309	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	L	0.46567	1.45	0.80722	D	1	P;P	0.40360	0.68;0.714	P;B	0.44946	0.465;0.414	T	0.50800	-0.8785	9	0.15952	T	0.53	-20.9211	19.3551	0.94408	0.0:1.0:0.0:0.0	.	327;345	Q9UI12-2;Q9UI12	.;VATH_HUMAN	N	327;305;345;345	.	ENSP00000347359:S327N	S	-	2	0	ATP6V1H	54847117	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.639000	0.89480	0.609000	0.83330	AGT	ATP6V1H-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377864.3		-	ENST00000355221.3	Missense_Mutation	SNP	8 : 54684564 - 54684564 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	527	146
ATP8B3	148229	broad.mit.edu	37	19	1785279	1785279	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:1785279C>A	ENST00000310127.6	-	27	3649	c.3411G>T	c.(3409-3411)aaG>aaT	p.K1137N	ATP8B3_ENST00000525591.1_Missense_Mutation_p.K1100N|ATP8B3_ENST00000539485.1_Missense_Mutation_p.K1147N	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1137					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTCCAGTACTTGATGATAA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	47	44			NA	NA	19		NA											NA				1785279		2190	4290	6480	SO:0001583	missense			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270	148229	148229		ATPases / P-type	13535	protein-coding gene	gene with protein product	aminophospholipid translocase ATP8B3, potential phospholipid-transporting ATPase IK	605866	ATPase, Class I, type 8B, member 3, ATPase, class I, type 8B, member 3		NA	11015572	Standard	NM_138813	NM_138813	NA	Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3411G>T	19.37:g.1785279C>A	ENSP00000311336:p.Lys1137Asn	NA	Q8IVB8|Q8N4Y8|Q96M22	37	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345599	0.41498	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	D;D;D	0.88664	-2.41;-2.41;-2.41	4.49	-0.244	0.13031	.	0.488846	0.21162	N	0.079130	D	0.83594	0.5288	L	0.28694	0.88	0.21604	N	0.999627	D;D	0.54964	0.961;0.969	P;P	0.52159	0.617;0.691	T	0.75068	-0.3448	10	0.45353	T	0.12	.	5.2161	0.15344	0.1426:0.6161:0.0:0.2414	.	1137;1100	O60423;Q7Z485	AT8B3_HUMAN;.	N	1137;1147;1100	ENSP00000311336:K1137N;ENSP00000443574:K1147N;ENSP00000437115:K1100N	ENSP00000311336:K1137N	K	-	3	2	ATP8B3	1736279	0.001000	0.12720	0.070000	0.20053	0.053000	0.15095	-0.307000	0.08167	-0.219000	0.10003	-0.136000	0.14681	AAG	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388279.1		-	ENST00000310127.6	Missense_Mutation	SNP	19 : 1785279 - 1785279 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	105	17
BCORL1	63035	broad.mit.edu	37	X	129185988	129185988	+	Missense_Mutation	SNP	G	G	A	rs143047034		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:129185988G>A	ENST00000218147.7	+	12	5047	c.4850G>A	c.(4849-4851)cGc>cAc	p.R1617H	BCORL1_ENST00000303743.5_Missense_Mutation_p.R1691H|BCORL1_ENST00000359304.2_Missense_Mutation_p.R1487H|BCORL1_ENST00000540052.1_Missense_Mutation_p.R1617H			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1617					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						TCAGTGTCCCGCGGGTAAGTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	87	95			NA	NA	X		NA											NA				129185988		2203	4300	6503	SO:0001583	missense			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.4850G>A	X.37:g.129185988G>A	ENSP00000218147:p.Arg1617His	NA	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798032	0.31777	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.40476	1.03;1.32;1.04;1.03;1.37	5.53	2.58	0.30949	.	0.759301	0.10829	N	0.629586	T	0.36220	0.0959	L	0.47716	1.5	0.32970	D	0.522206	B;B	0.24651	0.108;0.023	B;B	0.18871	0.023;0.006	T	0.42310	-0.9459	10	0.66056	D	0.02	-3.2989	9.7559	0.40502	0.2547:0.0:0.7453:0.0	.	1691;1617	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	H	1617;1691;1487;1617;1291	ENSP00000218147:R1617H;ENSP00000307541:R1691H;ENSP00000352253:R1487H;ENSP00000437775:R1617H;ENSP00000399483:R1291H	ENSP00000218147:R1617H	R	+	2	0	BCORL1	129013669	0.988000	0.35896	0.628000	0.29241	0.404000	0.30871	2.792000	0.47837	0.420000	0.25954	0.513000	0.50165	CGC	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058223.1		+	ENST00000218147.7	Missense_Mutation	SNP	X : 129185988 - 129185988 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	252	67
C12orf55	0	broad.mit.edu	37	12	97112291	97112291	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:97112291C>T	ENST00000524981.4	+	49	6818	c.6795C>T	c.(6793-6795)agC>agT	p.S2265S							NA											NA						TCACTCTTAGCATGCTAAAGG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	62	62			NA	NA	12		NA											NA				97112291		2201	4298	6499	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000524981.4:c.6795C>T	12.37:g.97112291C>T		NA		37																																																																																				C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000395046.4		+	ENST00000524981.4	Silent	SNP	12 : 97112291 - 97112291 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	397	67
C20orf26	0	broad.mit.edu	37	20	20056245	20056245	+	Silent	SNP	C	C	T	rs116838168	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:20056245C>T	ENST00000245957.5	+	6	628	c.552C>T	c.(550-552)caC>caT	p.H184H	C20orf26_ENST00000377306.1_Silent_p.H184H|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Silent_p.H184H	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		184										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTCAGCTGCACGTTCGCAAAG	0.478		NA											C	4	0.0018	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0018	1	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								C	,	18,4388	28.1+/-56.4	0,18,2185	140	129	133		552,552	-0.5	0.1	20	dbSNP_132	133	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C20orf26	NM_001167816.1,NM_015585.3	,	0,18,6485	TT,TC,CC	NA	0.0,0.4085,0.1384	,	184/471,184/1238	20056245	18,12988	2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000245957.5:c.552C>T	20.37:g.20056245C>T		NA	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	37	CCDS33447.1																																																																																			C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078228.3		+	ENST00000245957.5	Silent	SNP	20 : 20056245 - 20056245 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	599	105
C3	718	broad.mit.edu	37	19	6694601	6694601	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:6694601G>A	ENST00000245907.6	-	24	3087	c.2995C>T	c.(2995-2997)Cgg>Tgg	p.R999W		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	999					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGCTTCAGCCGTTCCGCGTCG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	61	65			NA	NA	19		NA											NA				6694601		2203	4300	6503	SO:0001583	missense			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	718	718	3.4.21.43	Complement system, Endogenous ligands	1318	protein-coding gene	gene with protein product	C3a anaphylatoxin, complement component C3a, complement component C3b, prepro-C3	120700			NA		Standard	NM_000064	NM_000064	NA	Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2995C>T	19.37:g.6694601G>A	ENSP00000245907:p.Arg999Trp	NA	A7E236	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913948	0.52546	.	.	ENSG00000125730	ENST00000245907	T	0.37584	1.19	5.67	4.61	0.57282	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.519800	0.21650	N	0.071200	T	0.32704	0.0838	N	0.08118	0	0.20926	N	0.999829	D	0.76494	0.999	P	0.58620	0.842	T	0.13683	-1.0500	10	0.72032	D	0.01	.	10.8984	0.47036	0.0:0.0:0.6435:0.3565	.	999	P01024	CO3_HUMAN	W	999	ENSP00000245907:R999W	ENSP00000245907:R999W	R	-	1	2	C3	6645601	0.290000	0.24343	0.988000	0.46212	0.150000	0.21749	1.655000	0.37345	2.693000	0.91896	0.650000	0.86243	CGG	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317636.2		-	ENST00000245907.6	Missense_Mutation	SNP	19 : 6694601 - 6694601 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	294	34
CACNB2	783	broad.mit.edu	37	10	18828549	18828549	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:18828549C>T	ENST00000396576.2	+	13	2215	c.1714C>T	c.(1714-1716)Cgt>Tgt	p.R572C	CACNB2_ENST00000377315.4_Missense_Mutation_p.R579C|CACNB2_ENST00000282343.8_Missense_Mutation_p.R599C|CACNB2_ENST00000377331.2_Missense_Mutation_p.R575C|CACNB2_ENST00000377329.4_Missense_Mutation_p.R573C|CACNB2_ENST00000352115.6_Missense_Mutation_p.R603C|CACNB2_ENST00000377328.1_Missense_Mutation_p.R377C|CACNB2_ENST00000377319.3_Missense_Mutation_p.R534C|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000324631.7_Missense_Mutation_p.R627C	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	627					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCAGCGCAGCCGTCATAAATC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	65	68			NA	NA	10		NA											NA				18828549		2203	4300	6503	SO:0001583	missense			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995	783	783		Calcium channel subunits	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2	NA	9254841, 8494331	Standard	NM_000724	NM_201596	NA	Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000396576.2:c.1714C>T	10.37:g.18828549C>T	ENSP00000379821:p.Arg572Cys	NA	A6PVM5|A6PVM8|O00304|Q5VVG9|Q5VVH0|Q5VWV6|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	37	CCDS7128.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101030	0.76983	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.86627	-1.93;1.94;-2.15;-1.91;1.94;-2.0;-2.0;-2.01;-2.01	5.7	5.7	0.88788	.	0.075439	0.53938	D	0.000045	D	0.90508	0.7026	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0	D;D;D;D;D;D;D;D;D;D;P;D;D	0.91635	0.982;0.994;0.996;0.994;0.964;0.931;0.994;0.997;0.997;0.997;0.804;0.999;0.994	D	0.91406	0.5147	10	0.87932	D	0	-12.6196	19.8389	0.96675	0.0:1.0:0.0:0.0	.	541;599;377;579;549;573;583;534;575;599;589;603;627	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	C	627;603;377;599;575;572;534;573;579	ENSP00000320025:R627C;ENSP00000344474:R603C;ENSP00000366545:R377C;ENSP00000282343:R599C;ENSP00000366548:R575C;ENSP00000379821:R572C;ENSP00000366536:R534C;ENSP00000366546:R573C;ENSP00000366532:R579C	ENSP00000282343:R599C	R	+	1	0	CACNB2	18868555	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	5.214000	0.65236	2.703000	0.92315	0.655000	0.94253	CGT	CACNB2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047074.2		+	ENST00000396576.2	Missense_Mutation	SNP	10 : 18828549 - 18828549 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	308	60
CELSR3	1951	broad.mit.edu	37	3	48696487	48696487	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:48696487C>T	ENST00000164024.4	-	1	3861	c.3581G>A	c.(3580-3582)cGc>cAc	p.R1194H	CELSR3_ENST00000544264.1_Missense_Mutation_p.R1194H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1194	Cadherin 9.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCTGGGATGCGCCCAATAAT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	111	113			NA	NA	3		NA											NA				48696487		2203	4300	6503	SO:0001583	missense			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300	1951	1951		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3230	protein-coding gene	gene with protein product	flamingo homolog 1 (Drosophila)	604264	cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog	EGFL1	NA	9693030	Standard	NM_001407	NM_001407	NA	Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3581G>A	3.37:g.48696487C>T	ENSP00000164024:p.Arg1194His	NA	O75092	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049277	0.55218	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.39406	1.08;1.08	5.44	4.56	0.56223	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.59797	0.2220	M	0.82056	2.57	0.46437	D	0.999045	D;D	0.89917	1.0;0.999	D;P	0.63488	0.915;0.869	T	0.63545	-0.6613	9	0.72032	D	0.01	.	7.936	0.29931	0.0:0.7749:0.0:0.2251	.	1194;1264	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	H	1194	ENSP00000164024:R1194H;ENSP00000445694:R1194H	ENSP00000164024:R1194H	R	-	2	0	CELSR3	48671491	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.728000	0.47319	2.561000	0.86390	0.561000	0.74099	CGC	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257523.1		-	ENST00000164024.4	Missense_Mutation	SNP	3 : 48696487 - 48696487 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	228	5
CHD8	57680	broad.mit.edu	37	14	21875121	21875121	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:21875121C>G	ENST00000557364.1	-	14	3064	c.2801G>C	c.(2800-2802)tGt>tCt	p.C934S	CHD8_ENST00000399982.2_Missense_Mutation_p.C934S|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.C655S			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	934	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAGCTCAGGACAATCTGACAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	61	62			NA	NA	14		NA											NA				21875121		1966	4149	6115	SO:0001583	missense			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888	57680	57680			20153	protein-coding gene	gene with protein product		610528	helicase with SNF2 domain 1	HELSNF1	NA	10997877	Standard	NM_020920	NM_020920	NA	Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2801G>C	14.37:g.21875121C>G	ENSP00000451601:p.Cys934Ser	NA	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	37	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.542986|4.542986	0.86022|0.86022	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	D;D;D|.	0.93019|.	-3.15;-3.15;-3.15|.	5.41|5.41	5.41|5.41	0.78517|0.78517	DEAD-like helicase (2);SNF2-related (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.34193|0.34193	0.0889|0.0889	N|N	0.02334|0.02334	-0.595|-0.595	0.80722|0.80722	D|D	1|1	B;P|.	0.36633|.	0.236;0.562|.	B;B|.	0.43950|.	0.345;0.437|.	T|T	0.30357|0.30357	-0.9981|-0.9981	10|5	0.27785|.	T|.	0.31|.	-17.6138|-17.6138	18.1343|18.1343	0.89612|0.89612	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	934;655|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	S|F	655;934;654;934|159	ENSP00000406288:C655S;ENSP00000382863:C934S;ENSP00000451601:C934S|.	ENSP00000262707:C654S|.	C|L	-|-	2|3	0|2	CHD8|CHD8	20944961|20944961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.932000|5.932000	0.70121|0.70121	2.816000|2.816000	0.96949|0.96949	0.561000|0.561000	0.74099|0.74099	TGT|TTG	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410436.1		-	ENST00000557364.1	Missense_Mutation	SNP	14 : 21875121 - 21875121 G PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	106	18
CLCN6	1185	broad.mit.edu	37	1	11897102	11897102	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:11897102A>G	ENST00000346436.6	+	19	2079	c.2027A>G	c.(2026-2028)cAg>cGg	p.Q676R	CLCN6_ENST00000376496.3_Missense_Mutation_p.Q676R|CLCN6_ENST00000376487.3_Missense_Mutation_p.Q654R|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	676					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAACGGAGCCAGTCCATGAAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	66	67			NA	NA	1		NA											NA				11897102		2203	4300	6503	SO:0001583	missense			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021	1185	1185		Ion channels / Chloride channels : Voltage-sensitive	2024	protein-coding gene	gene with protein product		602726	chloride channel 6		NA	8543009	Standard	NM_001286	NM_001286	NA	Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2027A>G	1.37:g.11897102A>G	ENSP00000234488:p.Gln676Arg	NA	A8K1T4|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	37	CCDS138.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.664137	0.29604	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.91237	-2.8;-2.8;-2.81	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.85026	0.5603	L	0.34521	1.04	0.80722	D	1	B;B	0.17268	0.021;0.012	B;B	0.12837	0.008;0.004	T	0.80251	-0.1460	10	0.16420	T	0.52	-27.6288	15.1511	0.72700	1.0:0.0:0.0:0.0	.	654;676	F8W9R3;P51797	.;CLCN6_HUMAN	R	676;654;676	ENSP00000234488:Q676R;ENSP00000365670:Q654R;ENSP00000365679:Q676R	ENSP00000234488:Q676R	Q	+	2	0	CLCN6	11819689	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.422000	0.90262	2.189000	0.69895	0.459000	0.35465	CAG	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006639.2		+	ENST00000346436.6	Missense_Mutation	SNP	1 : 11897102 - 11897102 G PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	344	79
CNKSR2	22866	broad.mit.edu	37	X	21627423	21627423	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:21627423T>C	ENST00000379510.3	+	20	2416	c.2380T>C	c.(2380-2382)Ttc>Ctc	p.F794L	CNKSR2_ENST00000279451.4_Missense_Mutation_p.F794L|CNKSR2_ENST00000543067.1_Missense_Mutation_p.F745L|CNKSR2_ENST00000425654.2_Missense_Mutation_p.F764L	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	794					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GGATTCTGTCTTCTCTGACTC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	75	76			NA	NA	X		NA											NA				21627423		2203	4300	6503	SO:0001583	missense			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970	22866	22866		Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing	19701	protein-coding gene	gene with protein product		300724			NA		Standard	NM_014927	NM_014927	NA	Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2380T>C	X.37:g.21627423T>C	ENSP00000368824:p.Phe794Leu	NA	B9EG83|O94976|Q5JPK4|Q5JPN0|Q8WXI1	37	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.577480	0.28180	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.17691	2.52;2.26;2.27;2.55	5.51	5.51	0.81932	.	0.161421	0.56097	D	0.000028	T	0.17619	0.0423	L	0.60455	1.87	0.47037	D	0.999295	B;B;B;B	0.18610	0.0;0.0;0.008;0.029	B;B;B;B	0.16289	0.002;0.001;0.015;0.008	T	0.06006	-1.0851	10	0.08599	T	0.76	-27.16	14.6111	0.68517	0.0:0.0:0.0:1.0	.	764;745;386;794	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	L	764;745;794;794	ENSP00000397906:F764L;ENSP00000444633:F745L;ENSP00000279451:F794L;ENSP00000368824:F794L	ENSP00000279451:F794L	F	+	1	0	CNKSR2	21537344	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.187000	0.58344	1.831000	0.53308	0.417000	0.27973	TTC	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056019.1		+	ENST00000379510.3	Missense_Mutation	SNP	X : 21627423 - 21627423 C PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	199	5
COL5A1	1289	broad.mit.edu	37	9	137593107	137593107	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:137593107C>T	ENST00000371817.3	+	4	996	c.582C>T	c.(580-582)agC>agT	p.S194S	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	194	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCGACCGCAGCGACCACCCCA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	124	140			NA	NA	9		NA											NA				137593107		2203	4300	6503	SO:0001819	synonymous_variant			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635	1289	1289		Collagens	2209	protein-coding gene	gene with protein product	alpha 1 type V collagen	120215			NA	1572660	Standard	NM_000093	NM_001278074	NA	Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.582C>T	9.37:g.137593107C>T		NA	Q15094|Q5SUX4	37	CCDS6982.1																																																																																			COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054954.2		+	ENST00000371817.3	Silent	SNP	9 : 137593107 - 137593107 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	204	42
CTDSP1	58190	broad.mit.edu	37	2	219266400	219266400	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:219266400C>T	ENST00000273062.2	+	2	517	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Missense_Mutation_p.P61S	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	61					protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCGGGGCGCCCCTGCTTGT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	29	29			NA	NA	2		NA											NA				219266400		2203	4300	6503	SO:0001583	missense			AF229162	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			ENSG00000144579	ENSG00000144579	58190	58190		Serine/threonine phosphatases / CTD aspartate-based phosphatases	21614	protein-coding gene	gene with protein product	nuclear LIM interactor-interacting factor, small CTD phosphatase 1	605323			NA	11950066, 12721286	Standard	NM_182642, NM_021198	NM_021198	NA	Approved	NLIIF, SCP1	uc021vwv.1	Q9GZU7	OTTHUMG00000133109	ENST00000273062.2:c.181C>T	2.37:g.219266400C>T	ENSP00000273062:p.Pro61Ser	NA	Q7Z5Q3|Q7Z5Q4	37	CCDS2416.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561410	0.65538	.	.	ENSG00000144579	ENST00000443891;ENST00000273062	T;T	0.14144	2.53;2.55	5.08	4.19	0.49359	.	0.061117	0.64402	D	0.000003	T	0.19725	0.0474	M	0.74467	2.265	0.58432	D	0.999999	B;B	0.17852	0.024;0.024	B;B	0.26202	0.024;0.067	T	0.03060	-1.1077	10	0.44086	T	0.13	-16.6294	12.6141	0.56567	0.0:0.9192:0.0:0.0807	.	61;61	Q9GZU7;C9IYG0	CTDS1_HUMAN;.	S	61	ENSP00000392248:P61S;ENSP00000273062:P61S	ENSP00000273062:P61S	P	+	1	0	CTDSP1	218974644	0.543000	0.26434	0.924000	0.36721	0.734000	0.41952	3.105000	0.50314	2.362000	0.80069	0.655000	0.94253	CCC	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256774.1		+	ENST00000273062.2	Missense_Mutation	SNP	2 : 219266400 - 219266400 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	181	38
CUBN	8029	broad.mit.edu	37	10	17169885	17169885	+	Silent	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:17169885C>A	ENST00000377833.4	-	3	356	c.291G>T	c.(289-291)ggG>ggT	p.G97G	CUBN_ENST00000377823.1_Silent_p.G97G	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	97					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAATTGCACTCCCTTTTAACT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	199	200			NA	NA	10		NA											NA				17169885		2202	4300	6502	SO:0001819	synonymous_variant			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611	8029	8029			2548	protein-coding gene	gene with protein product		602997		MGA1	NA	9572993, 9478979	Standard	NM_001081	NM_001081	NA	Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.291G>T	10.37:g.17169885C>A		NA	B0YIZ4|Q5VTA6|Q96RU9	37	CCDS7113.1																																																																																			CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047009.1		-	ENST00000377833.4	Silent	SNP	10 : 17169885 - 17169885 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	809	118
DDX46	9879	broad.mit.edu	37	5	134130654	134130654	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:134130654G>A	ENST00000452510.2	+	14	1899	c.1741G>A	c.(1741-1743)Gta>Ata	p.V581I	DDX46_ENST00000354283.4_Missense_Mutation_p.V581I|DDX46_ENST00000509178.1_3'UTR	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	581	Helicase ATP-binding.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACCTATTGAAGTACAAGTTGG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(13;391 453 4901 21675 24897)							NA				0													220	198	206			NA	NA	5		NA											NA				134130654		2203	4300	6503	SO:0001583	missense				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833	9879	9879		DEAD-boxes	18681	protein-coding gene	gene with protein product					NA		Standard	NM_014829	XM_005272142	NA	Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000452510.2:c.1741G>A	5.37:g.134130654G>A	ENSP00000416534:p.Val581Ile	NA	O94894|Q96EI0|Q9Y658	37		.	.	.	.	.	.	.	.	.	.	G	12.22	1.872519	0.33069	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	D;D	0.92149	-2.98;-2.98	5.42	5.42	0.78866	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	T	0.81673	0.4872	N	0.04335	-0.225	0.80722	D	1	B	0.12630	0.006	B	0.16289	0.015	T	0.77138	-0.2698	10	0.02654	T	1	-15.5181	19.5998	0.95557	0.0:0.0:1.0:0.0	.	581	Q7L014	DDX46_HUMAN	I	581	ENSP00000416534:V581I;ENSP00000346236:V581I	ENSP00000346236:V581I	V	+	1	0	DDX46	134158553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.887000	0.87295	2.717000	0.92951	0.655000	0.94253	GTA	DDX46-001	KNOWN	non_canonical_conserved|basic	protein_coding	NA	protein_coding	OTTHUMT00000371583.1		+	ENST00000452510.2	Missense_Mutation	SNP	5 : 134130654 - 134130654 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	708	158
DMRT2	10655	broad.mit.edu	37	9	1056510	1056510	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:1056510A>G	ENST00000358146.2	+	3	923	c.923A>G	c.(922-924)gAt>gGt	p.D308G	DMRT2_ENST00000382251.3_Missense_Mutation_p.D308G|DMRT2_ENST00000302441.6_Missense_Mutation_p.D308G|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	308					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		ACCTGCCTTGATTTAACCATG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	88	87			NA	NA	9		NA											NA				1056510		2203	4300	6503	SO:0001583	missense			AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253	10655	10655			2935	protein-coding gene	gene with protein product	terra-like protein	604935			NA	10332030	Standard	NM_006557	NM_181872	NA	Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.923A>G	9.37:g.1056510A>G	ENSP00000350865:p.Asp308Gly	NA	B1ANC0|B9EGJ1|Q9NPG6	37	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.753973	0.69648	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.34275	1.37;1.37;1.37	5.62	5.62	0.85841	.	0.289079	0.38663	N	0.001609	T	0.57755	0.2075	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.965;0.984	T	0.61108	-0.7129	10	0.87932	D	0	-21.4324	15.5071	0.75748	1.0:0.0:0.0:0.0	.	308;152	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	G	308	ENSP00000371686:D308G;ENSP00000305785:D308G;ENSP00000350865:D308G	ENSP00000305785:D308G	D	+	2	0	DMRT2	1046510	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.730000	0.91510	2.153000	0.67306	0.528000	0.53228	GAT	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051492.1		+	ENST00000358146.2	Missense_Mutation	SNP	9 : 1056510 - 1056510 G PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	352	58
DNAH11	8701	broad.mit.edu	37	7	21640427	21640427	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:21640427G>A	ENST00000409508.3	+	16	3165	c.3134G>A	c.(3133-3135)cGa>cAa	p.R1045Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.R1045Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1045	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGGATGATCGAGCTGAGTTT	0.448		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	182	183			NA	NA	7		NA											NA				21640427		1972	4152	6124	SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04				8701	8701		Axonemal dyneins	2942	protein-coding gene	gene with protein product	dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like	603339	dynein, axonemal, heavy polypeptide 11		NA	9256245	Standard	NM_003777	NM_001277115	NA	Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3134G>A	7.37:g.21640427G>A	ENSP00000475939:p.Arg1045Gln	NA	Q9UJ82	37		.	.	.	.	.	.	.	.	.	.	G	19.10	3.762115	0.69763	.	.	ENSG00000105877	ENST00000328843	T	0.23348	1.91	5.23	5.23	0.72850	.	0.280795	0.30639	N	0.009182	T	0.35537	0.0935	.	.	.	0.46317	D	0.998987	D	0.76494	0.999	P	0.55615	0.78	T	0.02320	-1.1177	9	0.23891	T	0.37	.	13.1616	0.59547	0.0791:0.0:0.9209:0.0	.	1045	Q96DT5	DYH11_HUMAN	Q	1045	ENSP00000330671:R1045Q	ENSP00000330671:R1045Q	R	+	2	0	DNAH11	21606952	1.000000	0.71417	0.965000	0.40720	0.921000	0.55340	4.241000	0.58707	2.452000	0.82932	0.551000	0.68910	CGA	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000326582.6		+	ENST00000409508.3	Missense_Mutation	SNP	7 : 21640427 - 21640427 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	1040	148
DSG3	1830	broad.mit.edu	37	18	29049139	29049139	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:29049139G>A	ENST00000257189.4	+	12	1807	c.1724G>A	c.(1723-1725)cGg>cAg	p.R575Q		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	575					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGAACAATCGGTGTGAGATG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	136	141			NA	NA	18		NA											NA				29049139		2203	4300	6503	SO:0001583	missense			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757	1830	1830		Cadherins / Major cadherins	3050	protein-coding gene	gene with protein product	pemphigus vulgaris antigen	169615	desmoglein 3 (pemphigus vulgaris antigen)		NA	1601426	Standard	NM_001944	NM_001944	NA	Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1724G>A	18.37:g.29049139G>A	ENSP00000257189:p.Arg575Gln	NA	A8K2V2	37	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.462788	0.26248	.	.	ENSG00000134757	ENST00000257189	T	0.58060	0.36	5.95	-11.9	0.00025	.	1.487420	0.04727	N	0.420484	T	0.23094	0.0558	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05852	-1.0860	10	0.14252	T	0.57	.	8.0923	0.30807	0.1856:0.0:0.3465:0.4679	.	575	P32926	DSG3_HUMAN	Q	575	ENSP00000257189:R575Q	ENSP00000257189:R575Q	R	+	2	0	DSG3	27303137	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.230000	0.01207	-3.245000	0.00206	-1.911000	0.00521	CGG	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254949.1		+	ENST00000257189.4	Missense_Mutation	SNP	18 : 29049139 - 29049139 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	513	8
EEF2	1938	broad.mit.edu	37	19	3980040	3980040	+	Nonsense_Mutation	SNP	G	G	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:3980040G>C	ENST00000309311.6	-	10	1459	c.1371C>G	c.(1369-1371)taC>taG	p.Y457*		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	457						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCTCCACGTAGCGGCCCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(165;1804 1908 4071 6587 18799)							NA				0													43	39	40			NA	NA	19		NA											NA				3980040		2203	4300	6503	SO:0001587	stop_gained			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658	1938	1938			3214	protein-coding gene	gene with protein product	polypeptidyl-tRNA translocase	130610		EF2	NA	2610926, 6427766	Standard	NM_001961	NM_001961	NA	Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1371C>G	19.37:g.3980040G>C	ENSP00000307940:p.Tyr457*	NA	B2RMP5|D6W618|Q58J86	37	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	G	36	5.611568	0.96637	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	.	.	.	5.45	-4.98	0.03019	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.4193	14.8867	0.70575	0.5244:0.0:0.4756:0.0	.	.	.	.	X	457	.	ENSP00000307940:Y457X	Y	-	3	2	EEF2	3931040	0.000000	0.05858	0.873000	0.34254	0.950000	0.60333	-2.827000	0.00746	-0.965000	0.03591	-1.134000	0.01955	TAC	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457615.2		-	ENST00000309311.6	Nonsense_Mutation	SNP	19 : 3980040 - 3980040 C PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	155	20
F11	2160	broad.mit.edu	37	4	187206814	187206814	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr4:187206814C>T	ENST00000403665.2	+	12	1679	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	F11_ENST00000264692.4_Missense_Mutation_p.R391C	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	443	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	p.R443C(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TAAGATTTTGCGTGTCTACAG	0.358		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)	GRCh37	CM062624	F11	M		C	CYS/ARG	0,4406		0,0,2203	121	122	122		1327	4.9	1	4		122	1,8599	1.2+/-3.3	0,1,4299	no	missense	F11	NM_000128.3	180	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	443/626	187206814	1,13005	2203	4300	6503	SO:0001583	missense			M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	2160	2160	3.4.21.27		3529	protein-coding gene	gene with protein product	plasma thromboplastin antecedent	264900			NA		Standard		NM_000128	NA	Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1327C>T	4.37:g.187206814C>T	ENSP00000384957:p.Arg443Cys	NA	D3DP64|Q4W5C2|Q9Y495	37	CCDS3847.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655726	0.67586	0.0	1.16E-4	ENSG00000088926	ENST00000403665;ENST00000264692	D;D	0.89617	-2.54;-2.54	4.86	4.86	0.63082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.278238	0.31673	N	0.007243	D	0.93861	0.8036	M	0.81341	2.54	0.48395	D	0.999649	D	0.89917	1.0	D	0.76071	0.987	D	0.93783	0.7085	9	.	.	.	.	13.1878	0.59691	0.1594:0.8406:0.0:0.0	.	443	P03951	FA11_HUMAN	C	443;391	ENSP00000384957:R443C;ENSP00000264692:R391C	.	R	+	1	0	F11	187443808	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	3.339000	0.52135	2.504000	0.84457	0.650000	0.86243	CGT	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317519.4		+	ENST00000403665.2	Missense_Mutation	SNP	4 : 187206814 - 187206814 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	373	5
FAT3	120114	broad.mit.edu	37	11	92532543	92532543	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:92532543G>A	ENST00000525166.1	+	9	5936	c.5914G>A	c.(5914-5916)Gtc>Atc	p.V1972I	FAT3_ENST00000298047.6_Missense_Mutation_p.V2122I|FAT3_ENST00000409404.2_Missense_Mutation_p.V2122I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2122	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V2122L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTGACCTATGTCCTGCAGGA	0.423		NA								TCGA Ovarian(4;0.039)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											47	47	47			NA	NA	11		NA											NA				92532543		1905	4128	6033	SO:0001583	missense			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323	120114	120114		Cadherins / Cadherin-related	23112	protein-coding gene	gene with protein product	cadherin-related family member 10	612483	FAT tumor suppressor homolog 3 (Drosophila)		NA	11811999	Standard	NM_001008781	NM_001008781	NA	Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000525166.1:c.5914G>A	11.37:g.92532543G>A	ENSP00000432586:p.Val1972Ile	NA	B5MDB0|Q96AU6	37		.	.	.	.	.	.	.	.	.	.	G	6.771	0.511125	0.12883	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01767	4.65;4.65;4.65	5.9	0.248	0.15526	.	.	.	.	.	T	0.00936	0.0031	N	0.12853	0.265	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53464	-0.8435	9	0.23302	T	0.38	.	0.7489	0.00987	0.2335:0.2878:0.2715:0.2072	.	2122	Q8TDW7-3	.	I	2122;2122;1972	ENSP00000298047:V2122I;ENSP00000387040:V2122I;ENSP00000432586:V1972I	ENSP00000298047:V2122I	V	+	1	0	FAT3	92172191	0.011000	0.17503	0.983000	0.44433	0.964000	0.63967	0.949000	0.29109	0.412000	0.25729	-0.136000	0.14681	GTC	FAT3-001	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000335363.3		+	ENST00000525166.1	Missense_Mutation	SNP	11 : 92532543 - 92532543 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	139	24
FBXL7	23194	broad.mit.edu	37	5	15928366	15928366	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:15928366C>T	ENST00000504595.1	+	3	976	c.495C>T	c.(493-495)aaC>aaT	p.N165N	FBXL7_ENST00000329673.7_Silent_p.N153N|FBXL7_ENST00000510662.1_Silent_p.N118N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	165					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AGACCATCAACGTGGACCGCG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	28	27			NA	NA	5		NA											NA				15928366		2118	4226	6344	SO:0001819	synonymous_variant			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580	23194	23194		F-boxes / Leucine-rich repeats	13604	protein-coding gene	gene with protein product		605656			NA	10048485, 10531035	Standard	NM_012304	NM_012304	NA	Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.495C>T	5.37:g.15928366C>T		NA	B9EGF1|O94926	37	CCDS54833.1																																																																																			FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366117.1		+	ENST00000504595.1	Silent	SNP	5 : 15928366 - 15928366 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	104	20
FLNC	2318	broad.mit.edu	37	7	128495282	128495282	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:128495282G>A	ENST00000325888.8	+	43	7426	c.7165G>A	c.(7165-7167)Gat>Aat	p.D2389N	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.D2356N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2389					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAAGTTCAATGATGAGCACAT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	100	96			NA	NA	7		NA											NA				128495282		2192	4299	6491	SO:0001583	missense			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591	2318	2318			3756	protein-coding gene	gene with protein product	actin binding protein 280	102565	filamin C, gamma (actin binding protein 280)	FLN2	NA	7689010, 8088838	Standard		NM_001458	NA	Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7165G>A	7.37:g.128495282G>A	ENSP00000327145:p.Asp2389Asn	NA	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184039	0.57800	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.92249	-3.0;-3.0	5.29	5.29	0.74685	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.053142	0.64402	D	0.000001	D	0.90007	0.6880	L	0.46567	1.45	0.48452	D	0.999652	B;B	0.21071	0.008;0.051	B;B	0.24394	0.013;0.053	D	0.86013	0.1502	10	0.33940	T	0.23	.	18.9397	0.92600	0.0:0.0:1.0:0.0	.	2356;2389	Q14315-2;Q14315	.;FLNC_HUMAN	N	2389;2356	ENSP00000327145:D2389N;ENSP00000344002:D2356N	ENSP00000327145:D2389N	D	+	1	0	FLNC	128282518	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.797000	0.62503	2.470000	0.83445	0.462000	0.41574	GAT	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059948.3		+	ENST00000325888.8	Missense_Mutation	SNP	7 : 128495282 - 128495282 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	591	72
FLNC	2318	broad.mit.edu	37	7	128495281	128495282	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:128495281_128495282insA	ENST00000325888.8	+	43	7425_7426	c.7164_7165insA	c.(7165-7167)gatfs	p.D2389fs	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Frame_Shift_Ins_p.D2356fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2389					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCAAGTTCAATGATGAGCACAT	0.624		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			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591	2318	2318			3756	protein-coding gene	gene with protein product	actin binding protein 280	102565	filamin C, gamma (actin binding protein 280)	FLN2	NA	7689010, 8088838	Standard		NM_001458	NA	Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	Exception_encountered	7.37:g.128495281_128495282insA	ENSP00000327145:p.Asp2389fs	NA	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	37	CCDS43644.1																																																																																			FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059948.3		+	ENST00000325888.8	Frame_Shift_Ins	INS	7 : 128495281 - 128495282 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	521	70
FOXF1	2294	broad.mit.edu	37	16	86544569	86544569	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:86544569T>C	ENST00000262426.4	+	1	437	c.394T>C	c.(394-396)Ttc>Ctc	p.F132L		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	132					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CGAGTTCATGTTCGAGGAGGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	79	74			NA	NA	16		NA											NA				86544569		2197	4298	6495	SO:0001583	missense			U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241	2294	2294		Forkhead boxes	3809	protein-coding gene	gene with protein product		601089		FKHL5	NA	8825632, 7957066	Standard	NM_001451	NM_001451	NA	Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.394T>C	16.37:g.86544569T>C	ENSP00000262426:p.Phe132Leu	NA	B2RAF4|Q5FWE5	37	CCDS10957.2	.	.	.	.	.	.	.	.	.	.	T	28.1	4.887395	0.91814	.	.	ENSG00000103241	ENST00000262426	T	0.36340	1.26	4.51	4.51	0.55191	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	L	0.45285	1.41	0.80722	D	1	D	0.55605	0.972	D	0.66716	0.946	T	0.52563	-0.8559	10	0.87932	D	0	.	12.9875	0.58599	0.0:0.0:0.0:1.0	.	132	Q12946	FOXF1_HUMAN	L	132	ENSP00000262426:F132L	ENSP00000262426:F132L	F	+	1	0	FOXF1	85102070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.653000	0.83643	1.668000	0.50843	0.528000	0.53228	TTC	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269103.2		+	ENST00000262426.4	Missense_Mutation	SNP	16 : 86544569 - 86544569 C PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	681	163
GLIS3	169792	broad.mit.edu	37	9	4118378	4118378	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:4118378C>T	ENST00000324333.10	-	3	828	c.635G>A	c.(634-636)gGc>gAc	p.G212D	GLIS3_ENST00000381971.3_Missense_Mutation_p.G367D	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	212					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTTCTGGCTGCCGGGCACCGG	0.736		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	6	6			NA	NA	9		NA											NA				4118378		1786	3552	5338	SO:0001583	missense			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249	169792	169792		Zinc fingers, C2H2-type	28510	protein-coding gene	gene with protein product		610192	zinc finger protein 515	ZNF515	NA	14500813	Standard	NM_152629	NM_152629	NA	Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.635G>A	9.37:g.4118378C>T	ENSP00000325494:p.Gly212Asp	NA	B1AL19|Q1PHK5	37	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	C	4.448	0.083027	0.08533	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.10573	2.87;2.86	5.63	4.73	0.59995	.	0.314417	0.25622	N	0.029409	T	0.06005	0.0156	N	0.19112	0.55	0.09310	N	1	B;B	0.17667	0.023;0.006	B;B	0.18561	0.022;0.01	T	0.40117	-0.9580	10	0.15066	T	0.55	.	5.5169	0.16912	0.0:0.6111:0.1599:0.229	.	367;212	Q8NEA6-2;Q8NEA6	.;GLIS3_HUMAN	D	212;367	ENSP00000325494:G212D;ENSP00000371398:G367D	ENSP00000325494:G212D	G	-	2	0	GLIS3	4108378	0.000000	0.05858	0.016000	0.15963	0.060000	0.15804	0.091000	0.15046	1.372000	0.46190	0.655000	0.94253	GGC	GLIS3-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051559.1		-	ENST00000324333.10	Missense_Mutation	SNP	9 : 4118378 - 4118378 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	69	21
GRM8	2918	broad.mit.edu	37	7	126173853	126173853	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:126173853G>A	ENST00000339582.2	-	9	2391	c.1583C>T	c.(1582-1584)aCg>aTg	p.T528M	GRM8_ENST00000358373.3_Missense_Mutation_p.T528M|GRM8_ENST00000444921.2_Missense_Mutation_p.T528M|GRM8_ENST00000480995.1_Intron			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	528					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCCTTTCACCGTTTTCTTCCT	0.542		NA								HNSCC(24;0.065)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	85	85			NA	NA	7		NA											NA				126173853		2203	4300	6503	SO:0001583	missense				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603	NA	2918		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4600	protein-coding gene	gene with protein product		601116			NA	8824806	Standard		NM_000845	NA	Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1583C>T	7.37:g.126173853G>A	ENSP00000344173:p.Thr528Met	NA	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	1.717	-0.497514	0.04291	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89617	-2.54;-2.54;-2.54	5.8	4.92	0.64577	GPCR, family 3, nine cysteines domain (1);	0.100013	0.64402	D	0.000001	T	0.74261	0.3693	N	0.03999	-0.3	0.80722	D	1	B;B	0.16166	0.013;0.016	B;B	0.22880	0.002;0.042	T	0.69075	-0.5241	10	0.02654	T	1	.	14.0626	0.64808	0.0721:0.0:0.9279:0.0	.	528;528	O00222-2;O00222	.;GRM8_HUMAN	M	528	ENSP00000344173:T528M;ENSP00000409790:T528M;ENSP00000351142:T528M	ENSP00000344173:T528M	T	-	2	0	GRM8	125961089	0.754000	0.28360	0.709000	0.30452	0.984000	0.73092	1.180000	0.32005	1.468000	0.48064	0.643000	0.83706	ACG	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059209.4		-	ENST00000339582.2	Missense_Mutation	SNP	7 : 126173853 - 126173853 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	486	66
HECW1	23072	broad.mit.edu	37	7	43351452	43351452	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:43351452C>T	ENST00000453890.1	+	3	442	c.118C>T	c.(118-120)Cga>Tga	p.R40*	HECW1_ENST00000395891.2_Nonsense_Mutation_p.R40*			Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	40					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGAGCCGCTCCGATACAGCTA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	60	57			NA	NA	7		NA											NA				43351452		1996	4148	6144	SO:0001587	stop_gained			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746	23072	23072			22195	protein-coding gene	gene with protein product		610384			NA	12690205, 14684739	Standard	NM_015052	XM_005249665	NA	Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000453890.1:c.118C>T	7.37:g.43351452C>T	ENSP00000407774:p.Arg40*	NA	A7E2X0|A8MYS3|O15036|Q9HCC7	37		.	.	.	.	.	.	.	.	.	.	C	27.5	4.838602	0.91117	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	5.96	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.103	0.65070	0.3056:0.6944:0.0:0.0	.	.	.	.	X	40;40;39	.	ENSP00000265522:R39X	R	+	1	2	HECW1	43317977	0.992000	0.36948	0.995000	0.50966	0.246000	0.25737	2.924000	0.48876	2.813000	0.96785	0.655000	0.94253	CGA	HECW1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338775.1		+	ENST00000453890.1	Nonsense_Mutation	SNP	7 : 43351452 - 43351452 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	319	59
IGFALS	3483	broad.mit.edu	37	16	1843655	1843655	+	Translation_Start_Site	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:1843655C>A	ENST00000568221.1	-	1	133				IGFALS_ENST00000415638.3_De_novo_Start_InFrame|IGFALS_ENST00000215539.3_De_novo_Start_InFrame			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	NA					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CAGGGCCATCCTGCATGCAGG	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	15	16			NA	NA	16		NA											NA				1843655		2187	4294	6481	SO:0001627	intron_variant			M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769	3483	3483			5468	protein-coding gene	gene with protein product		601489			NA	1379671, 16114275	Standard		NM_004970	NA	Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000568221.1:c.48+1184G>T	16.37:g.1843655C>A		NA		37																																																																																				IGFALS-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000433578.1		-	ENST00000568221.1	Intron	SNP	16 : 1843655 - 1843655 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	31	5
KEL	3792	broad.mit.edu	37	7	142655036	142655036	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:142655036T>G	ENST00000355265.2	-	6	1024	c.550A>C	c.(550-552)Aaa>Caa	p.K184Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	184					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAAGTCCATTTACCAGAGATG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	66	69			NA	NA	7		NA											NA				142655036		2203	4300	6503	SO:0001583	missense			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993	3792	3792		CD molecules, Blood group antigens	6308	protein-coding gene	gene with protein product		613883	Kell blood group, Kell blood group, metalloendopeptidase		NA	1712490, 7683930	Standard	NM_000420	NM_000420	NA	Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.550A>C	7.37:g.142655036T>G	ENSP00000347409:p.Lys184Gln	NA	B2RBV4|Q96RS8|Q99885	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	T	8.336	0.827505	0.16749	.	.	ENSG00000197993	ENST00000355265;ENST00000467543	T;T	0.73363	-0.74;-0.74	5.8	3.26	0.37387	Peptidase M13 (1);	0.316302	0.26719	N	0.022860	T	0.49677	0.1571	N	0.14661	0.345	0.09310	N	1	B	0.32010	0.351	B	0.29663	0.105	T	0.30416	-0.9979	10	0.16896	T	0.51	-4.6538	5.6937	0.17843	0.0:0.0867:0.1694:0.744	.	184	P23276	KELL_HUMAN	Q	184;165	ENSP00000347409:K184Q;ENSP00000420011:K165Q	ENSP00000347409:K184Q	K	-	1	0	KEL	142365158	0.003000	0.15002	0.096000	0.21009	0.846000	0.48090	0.398000	0.20899	0.992000	0.38840	0.528000	0.53228	AAA	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347671.2		-	ENST00000355265.2	Missense_Mutation	SNP	7 : 142655036 - 142655036 G PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	226	42
KNDC1	85442	broad.mit.edu	37	10	135009218	135009218	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:135009218G>A	ENST00000304613.3	+	10	1648	c.1627G>A	c.(1627-1629)Gtc>Atc	p.V543I	KNDC1_ENST00000368572.2_Missense_Mutation_p.V543I|KNDC1_ENST00000368571.2_Missense_Mutation_p.V478I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	543	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAAGTTCAGCGTCCCCCGCAA	0.687		NA											G	2	9e-04	0.0041	NA	2184	NA	0.9997	,	,	NA	3e-04	NA	NA	NA	0.0011	0.8731	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0									ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	47	42	43		1627	-5.3	0	10		43	3,8597	3.0+/-9.4	0,3,4297	yes	missense	KNDC1	NM_152643.6	29	0,4,6499	AA,AG,GG	NA	0.0349,0.0227,0.0308	benign	543/1750	135009218	4,13002	2203	4300	6503	SO:0001583	missense			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798	85442	85442			29374	protein-coding gene	gene with protein product			RasGEF domain family, member 2	RASGEF2, C10orf23	NA	11214970	Standard	NM_152643	NM_152643	NA	Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1627G>A	10.37:g.135009218G>A	ENSP00000304437:p.Val543Ile	NA	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	37	CCDS7674.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	1.067	-0.671207	0.03403	2.27E-4	3.49E-4	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.32272	1.46;1.46;1.46	4.63	-5.31	0.02730	KIND (2);	0.976965	0.08346	N	0.960109	T	0.13415	0.0325	N	0.15975	0.35	0.09310	N	1	B;B	0.17465	0.022;0.005	B;B	0.09377	0.004;0.002	T	0.28138	-1.0053	10	0.27082	T	0.32	-20.5636	5.616	0.17432	0.5361:0.0:0.2633:0.2006	.	478;543	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	I	543;543;478	ENSP00000304437:V543I;ENSP00000357561:V543I;ENSP00000357560:V478I	ENSP00000304437:V543I	V	+	1	0	KNDC1	134859208	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-0.398000	0.07259	-0.658000	0.05366	-0.692000	0.03713	GTC	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277044.3		+	ENST00000304613.3	Missense_Mutation	SNP	10 : 135009218 - 135009218 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	146	33
KRAS	3845	broad.mit.edu	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	rs121913240		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:25380276T>C	ENST00000311936.3	-	3	373	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GTACTCCTCTTGACCTGCTGT	0.418	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	141	Substitution - Missense(141)	large_intestine(63)|lung(27)|thyroid(14)|haematopoietic_and_lymphoid_tissue(9)|pancreas(6)|skin(5)|stomach(3)|cervix(3)|upper_aerodigestive_tract(2)|soft_tissue(1)|central_nervous_system(1)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|gastrointestinal_tract_(site_indeterminate)(1)|breast(1)|prostate(1)|kidney(1)											109	97	101			NA	NA	12		NA											NA				25380276		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.182A>G	12.37:g.25380276T>C	ENSP00000308495:p.Gln61Arg	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022613	0.75275	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.83673	-1.75;-1.75	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.88358	0.6415	M	0.92367	3.3	0.80722	D	1	B;B	0.26744	0.158;0.026	B;B	0.32805	0.135;0.153	D	0.87885	0.2680	10	0.66056	D	0.02	.	15.5753	0.76373	0.0:0.0:0.0:1.0	.	61;61	P01116-2;P01116	.;RASK_HUMAN	R	61	ENSP00000308495:Q61R;ENSP00000256078:Q61R	ENSP00000256078:Q61R	Q	-	2	0	KRAS	25271543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.983000	0.88140	2.326000	0.78906	0.533000	0.62120	CAA	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25380276 - 25380276 C PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	417	78
KRT76	51350	broad.mit.edu	37	12	53170526	53170526	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:53170526G>A	ENST00000332411.2	-	1	603	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	184	Coil 1A.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCTGTTCCCGCTCCTGGGCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	112	110			NA	NA	12		NA											NA				53170526		2203	4298	6501	SO:0001583	missense			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069	51350	51350		-, Intermediate filaments type II, keratins (basic)	24430	protein-coding gene	gene with protein product					NA	1282112, 16831889	Standard	NM_015848	NM_015848	NA	Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.550C>T	12.37:g.53170526G>A	ENSP00000330101:p.Arg184Trp	NA	B4DRR3|Q7Z795	37	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271171	0.59649	.	.	ENSG00000185069	ENST00000332411	D	0.90261	-2.64	4.2	1.28	0.21552	Filament (1);	0.187921	0.26140	N	0.026104	D	0.95201	0.8444	M	0.87547	2.89	0.35775	D	0.821214	D	0.89917	1.0	D	0.97110	1.0	D	0.96746	0.9550	10	0.87932	D	0	.	13.7626	0.62975	0.0:0.0:0.2799:0.7201	.	184	Q01546	K22O_HUMAN	W	184	ENSP00000330101:R184W	ENSP00000330101:R184W	R	-	1	2	KRT76	51456793	1.000000	0.71417	0.969000	0.41365	0.984000	0.73092	1.734000	0.38166	0.284000	0.22305	-0.372000	0.07161	CGG	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405928.1		-	ENST00000332411.2	Missense_Mutation	SNP	12 : 53170526 - 53170526 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	522	7
L3MBTL4	91133	broad.mit.edu	37	18	6239823	6239823	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:6239823C>T	ENST00000400104.3	-	9	801	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	L3MBTL4_ENST00000535782.1_Missense_Mutation_p.V14M|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.V201M|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.V201M|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.V201M			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	201					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTCCTGTCCACGGCCTCCAGC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(41;748 902 17366 28959 43175)							NA				0													129	107	114			NA	NA	18		NA											NA				6239823		2203	4300	6503	SO:0001583	missense			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655	91133	91133		Sterile alpha motif (SAM) domain containing	26677	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_173464	NM_173464	NA	Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000400104.3:c.601G>A	18.37:g.6239823C>T	ENSP00000382975:p.Val201Met	NA	A8MTL8|Q8IXS3	37		.	.	.	.	.	.	.	.	.	.	C	16.34	3.095859	0.56075	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.35	-1.99	0.07457	.	0.485871	0.17200	N	0.183141	T	0.65616	0.2708	H	0.95982	3.75	0.09310	N	1	D;D	0.89917	1.0;0.967	D;P	0.68483	0.958;0.636	T	0.60702	-0.7211	10	0.87932	D	0	.	10.7292	0.46087	0.0:0.4918:0.0:0.5082	.	201;201	Q8NA19;F8W9S8	LMBL4_HUMAN;.	M	201;201;201;14;201	ENSP00000382976:V201M;ENSP00000318543:V201M;ENSP00000284898:V201M;ENSP00000444774:V14M;ENSP00000382975:V201M	ENSP00000284898:V201M	V	-	1	0	L3MBTL4	6229823	0.017000	0.18338	0.002000	0.10522	0.857000	0.48899	0.514000	0.22786	-0.856000	0.04120	-0.469000	0.05056	GTG	L3MBTL4-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000254447.1		-	ENST00000400104.3	Missense_Mutation	SNP	18 : 6239823 - 6239823 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	318	5
LEPR	3953	broad.mit.edu	37	1	66102532	66102532	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:66102532C>T	ENST00000349533.6	+	20	3517	c.3332C>T	c.(3331-3333)aCg>aTg	p.T1111M	LEPR_ENST00000406510.3_Missense_Mutation_p.T178M	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1111					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGTTTATTCACGGACATCAGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	66	67			NA	NA	1		NA											NA				66102532		2203	4300	6503	SO:0001583	missense			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678	3953	3953		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6554	protein-coding gene	gene with protein product		601007			NA	8548812, 8812446	Standard	NM_002303	NM_001003680	NA	Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3332C>T	1.37:g.66102532C>T	ENSP00000330393:p.Thr1111Met	NA	Q13592|Q13593|Q13594|Q92919|Q92920|Q92921	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	9.281	1.048241	0.19827	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.55760	0.5	5.37	-1.07	0.09968	.	0.746455	0.13820	N	0.360475	T	0.31765	0.0807	L	0.51422	1.61	0.09310	N	1	D	0.56287	0.975	P	0.49999	0.628	T	0.12372	-1.0550	10	0.48119	T	0.1	-4.0534	5.9674	0.19332	0.1701:0.3559:0.402:0.0719	.	1111	P48357	LEPR_HUMAN	M	1111;178	ENSP00000330393:T1111M	ENSP00000330393:T1111M	T	+	2	0	LEPR	65875120	0.038000	0.19896	0.098000	0.21074	0.002000	0.02628	0.224000	0.17738	0.136000	0.18733	-0.237000	0.12165	ACG	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025275.1		+	ENST00000349533.6	Missense_Mutation	SNP	1 : 66102532 - 66102532 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	236	49
LGI3	203190	broad.mit.edu	37	8	22006465	22006465	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:22006465C>T	ENST00000306317.2	-	8	1144	c.855G>A	c.(853-855)ccG>ccA	p.P285P	LGI3_ENST00000424267.2_Silent_p.P261P	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	285					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCACCACCATCGGCTTGCAGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	37	39			NA	NA	8		NA											NA				22006465		2203	4300	6503	SO:0001819	synonymous_variant			AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481	203190	203190			18711	protein-coding gene	gene with protein product		608302			NA	12023020, 18628660	Standard		NM_139278	NA	Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.855G>A	8.37:g.22006465C>T		NA	Q86TL4|Q8N296	37	CCDS6025.1																																																																																			LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254482.1		-	ENST00000306317.2	Silent	SNP	8 : 22006465 - 22006465 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	138	45
LIN28B	389421	broad.mit.edu	37	6	105474175	105474175	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr6:105474175C>A	ENST00000345080.4	+	3	404	c.201C>A	c.(199-201)agC>agA	p.S67R		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	67	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CTTTACAGAGCAAACTATTCA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	76	73			NA	NA	6		NA											NA				105474175		2196	4298	6494	SO:0001583	missense			AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772	389421	389421			32207	protein-coding gene	gene with protein product		611044			NA		Standard	NM_001004317	NM_001004317	NA	Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.201C>A	6.37:g.105474175C>A	ENSP00000344401:p.Ser67Arg	NA	A1L165|B2RPN6|Q5TCM4	37	CCDS34504.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783141	0.70222	.	.	ENSG00000187772	ENST00000345080	.	.	.	5.92	5.05	0.67936	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.074367	0.85682	D	0.000000	T	0.61160	0.2325	L	0.49640	1.575	0.80722	D	1	D;D	0.76494	0.991;0.999	P;D	0.66497	0.818;0.944	T	0.65302	-0.6201	9	0.52906	T	0.07	-13.7426	14.9456	0.71029	0.0:0.9318:0.0:0.0682	.	44;67	A7E2T3;Q6ZN17	.;LN28B_HUMAN	R	67	.	ENSP00000344401:S67R	S	+	3	2	LIN28B	105580868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.128000	0.50492	1.499000	0.48617	0.650000	0.86243	AGC	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041646.2		+	ENST00000345080.4	Missense_Mutation	SNP	6 : 105474175 - 105474175 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	474	87
MC5R	4161	broad.mit.edu	37	18	13825811	13825811	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:13825811C>T	ENST00000324750.3	+	1	269	c.47C>T	c.(46-48)gCc>gTc	p.A16V		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	16					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						AACCTGAATGCCACAGAGGGC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	84	84			NA	NA	18		NA											NA				13825811		2203	4300	6503	SO:0001583	missense			AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136	4161	4161		GPCR / Class A : Melanocortin receptors	6933	protein-coding gene	gene with protein product		600042			NA	8396929	Standard	NM_005913	NM_005913	NA	Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.47C>T	18.37:g.13825811C>T	ENSP00000318077:p.Ala16Val	NA	B0YJ34|Q502V1	37	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916374	0.33815	.	.	ENSG00000176136	ENST00000324750	T	0.37235	1.21	5.3	3.51	0.40186	.	1.217370	0.05665	N	0.587595	T	0.21631	0.0521	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.22173	-1.0224	10	0.49607	T	0.09	.	6.4409	0.21849	0.0:0.6892:0.1497:0.161	.	16	P33032	MC5R_HUMAN	V	16	ENSP00000318077:A16V	ENSP00000318077:A16V	A	+	2	0	MC5R	13815811	0.001000	0.12720	0.670000	0.29842	0.921000	0.55340	0.478000	0.22212	0.615000	0.30124	0.455000	0.32223	GCC	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254638.1		+	ENST00000324750.3	Missense_Mutation	SNP	18 : 13825811 - 13825811 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	365	6
MMP9	4318	broad.mit.edu	37	20	44639630	44639630	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:44639630G>A	ENST00000372330.3	+	4	609	c.590G>A	c.(589-591)gGc>gAc	p.G197D		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	197					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CCTGGCCCCGGCATTCAGGGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	80	82			NA	NA	20		NA											NA				44639630		2203	4300	6503	SO:0001583	missense				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	4318	4318	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase), matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	CLG4B	NA	2158484	Standard		NM_004994	NA	Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.590G>A	20.37:g.44639630G>A	ENSP00000361405:p.Gly197Asp	NA	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	37	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125006	0.94429	.	.	ENSG00000100985	ENST00000372330	T	0.23754	1.89	4.62	4.62	0.57501	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	M	0.76328	2.33	0.80722	D	1	P	0.40660	0.726	P	0.53649	0.731	T	0.50642	-0.8804	10	0.87932	D	0	.	16.9809	0.86327	0.0:0.0:1.0:0.0	.	197	P14780	MMP9_HUMAN	D	197	ENSP00000361405:G197D	ENSP00000361405:G197D	G	+	2	0	MMP9	44073037	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.601000	0.98297	2.553000	0.86117	0.650000	0.86243	GGC	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080337.1		+	ENST00000372330.3	Missense_Mutation	SNP	20 : 44639630 - 44639630 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	398	7
MT-CYB	4519	broad.mit.edu	37	M	15615	15615	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrM:15615G>A	ENST00000361789.2	+	1	869	c.869G>A	c.(868-870)gGc>gAc	p.G290D						mitochondrially encoded cytochrome b	NA										breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						CAAACTAGGAGGCGTCCTTGC	0.463		NA									OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		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:0001583	missense					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727	4519	4519		Cytochrome b genes, Mitochondrial respiratory chain complex / Complex III	7427	protein-coding gene	gene with protein product		516020	cytochrome b	MTCYB	NA		Standard	YP_003024038		NA	Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.869G>A	M.37:g.15615G>A	ENSP00000354554:p.Gly290Asp	585		37																																																																																				MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			+	ENST00000361789.2	Missense_Mutation	SNP	M : 15615 - 15615 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	0	0
NCAM1	4684	broad.mit.edu	37	11	113078701	113078701	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:113078701C>T	ENST00000533760.1	+	7	1138	c.539C>T	c.(538-540)gCg>gTg	p.A180V	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.A297V|NCAM1_ENST00000316851.7_Missense_Mutation_p.A288V	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	298	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GAGCAGGATGCGACCATCCAC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	51	51			NA	NA	11		NA											NA				113078701		2071	4217	6288	SO:0001583	missense				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294	4684	4684		CD molecules, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7656	protein-coding gene	gene with protein product		116930			NA		Standard	NM_000615	NM_000615	NA	Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.539C>T	11.37:g.113078701C>T	ENSP00000473281:p.Ala180Val	NA	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	37		.	.	.	.	.	.	.	.	.	.	C	21.1	4.105555	0.77096	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.69040	-0.37;-0.37	5.71	4.75	0.60458	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.205034	0.50627	D	0.000106	T	0.72293	0.3442	.	.	.	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.97	P;P;P;P;B	0.51657	0.612;0.612;0.609;0.676;0.329	T	0.75260	-0.3380	9	0.56958	D	0.05	-40.4986	15.5067	0.75745	0.1389:0.8611:0.0:0.0	.	298;298;298;298;298	P13591-5;P13591-1;P13591;P13591-3;P13591-6	.;.;NCAM1_HUMAN;.;.	V	180;297;288	ENSP00000384055:A297V;ENSP00000318472:A288V	ENSP00000318472:A288V	A	+	2	0	NCAM1	112583911	0.996000	0.38824	0.946000	0.38457	0.966000	0.64601	4.470000	0.60175	2.710000	0.92621	0.655000	0.94253	GCG	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000394068.2		+	ENST00000533760.1	Missense_Mutation	SNP	11 : 113078701 - 113078701 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	60	4
NEIL2	252969	broad.mit.edu	37	8	11637109	11637109	+	Silent	SNP	C	C	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:11637109C>G	ENST00000284503.6	+	3	740	c.141C>G	c.(139-141)gtC>gtG	p.V47V	NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000403422.3_5'UTR|NEIL2_ENST00000455213.2_Silent_p.V47V|NEIL2_ENST00000436750.3_Silent_p.V47V	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	47					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TTTTCTAGGTCCATGGAAAGA	0.468		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													56	70	65			NA	NA	8		NA											NA				11637109		2200	4296	6496	SO:0001819	synonymous_variant			AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328	252969	252969			18956	protein-coding gene	gene with protein product		608933	nei like 2 (E. coli)		NA	12097317, 17686777	Standard	NM_145043	NM_145043	NA	Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.141C>G	8.37:g.11637109C>G		NA	Q7Z3Q7|Q8N842|Q8NG52	37	CCDS5984.1																																																																																			NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207583.3		+	ENST00000284503.6	Silent	SNP	8 : 11637109 - 11637109 G PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	661	157
NOTUM	147111	broad.mit.edu	37	17	79914915	79914915	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:79914915C>T	ENST00000409678.3	-	7	1114	c.731G>A	c.(730-732)cGt>cAt	p.R244H		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	244				R -> L (in Ref. 1; AAH36872).		extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTCAGCCACACGGTCCACATT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	52	55			NA	NA	17		NA											NA				79914915		2203	4300	6503	SO:0001583	missense			BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269	147111	147111			27106	protein-coding gene	gene with protein product		609847			NA		Standard	NM_178493	NM_178493	NA	Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.731G>A	17.37:g.79914915C>T	ENSP00000387310:p.Arg244His	NA	Q8N410|Q8NI82	37	CCDS32771.2	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724700	0.30593	.	.	ENSG00000185269	ENST00000409678;ENST00000425009	.	.	.	4.54	3.56	0.40772	.	0.302720	0.37483	N	0.002071	T	0.43255	0.1239	L	0.39245	1.2	0.43994	D	0.996693	B	0.28258	0.205	B	0.28139	0.086	T	0.44817	-0.9303	9	0.48119	T	0.1	.	5.0317	0.14413	0.1749:0.6566:0.0:0.1686	.	244	Q6P988	NOTUM_HUMAN	H	244	.	ENSP00000387310:R244H	R	-	2	0	NOTUM	77508205	0.958000	0.32768	0.998000	0.56505	0.611000	0.37282	2.080000	0.41586	2.055000	0.61198	0.313000	0.20887	CGT	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335123.2		-	ENST00000409678.3	Missense_Mutation	SNP	17 : 79914915 - 79914915 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	175	32
NPHP3	27031	broad.mit.edu	37	3	132415576	132415576	+	Splice_Site	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:132415576G>A	ENST00000337331.5	-	15	2256	c.2170C>T	c.(2170-2172)Cgt>Tgt	p.R724C	NPHP3_ENST00000326682.8_Intron	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	724					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCACTCACCGCGCGATCATT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	138	144			NA	NA	3		NA											NA				132415576		2203	4300	6503	SO:0001630	splice_region_variant			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971	27031	27031		Tetratricopeptide (TTC) repeat domain containing	7907	protein-coding gene	gene with protein product	nephrocystin-3, Meckel syndrome, type 7, cilia and flagella associated protein 31	608002			NA	12872122, 15381417	Standard	NM_153240	NM_153240	NA	Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2171+1C>T	3.37:g.132415576G>A		NA	Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	37	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	G	9.374	1.071278	0.20147	.	.	ENSG00000113971	ENST00000337331	T	0.64085	-0.08	5.9	-3.65	0.04502	.	0.566832	0.22573	N	0.058315	T	0.30448	0.0765	N	0.02539	-0.55	0.35234	D	0.777212	B	0.02656	0.0	B	0.01281	0.0	T	0.04373	-1.0956	10	0.45353	T	0.12	-0.0351	11.0565	0.47922	0.6313:0.0:0.2772:0.0916	.	724	Q7Z494	NPHP3_HUMAN	C	724	ENSP00000338766:R724C	ENSP00000338766:R724C	R	-	1	0	NPHP3	133898266	0.000000	0.05858	0.002000	0.10522	0.043000	0.13939	-0.361000	0.07612	-0.584000	0.05913	0.650000	0.86243	CGT	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357020.2	Missense_Mutation	-	ENST00000337331.5	Splice_Site	SNP	3 : 132415576 - 132415576 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	1260	241
NYAP2	57624	broad.mit.edu	37	2	226447451	226447451	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:226447451G>A	ENST00000272907.6	+	4	1731	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	440	Pro-rich.							p.V440I(1)			NA						TCCCTCCCCCGTCAGCATGGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											35	39	37			NA	NA	2		NA											NA				226447451		2007	4183	6190	SO:0001583	missense			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460	57624	57624			29291	protein-coding gene	gene with protein product		615478	KIAA1486	KIAA1486	NA	10819331, 21946561	Standard	NM_020864	NM_020864	NA	Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1318G>A	2.37:g.226447451G>A	ENSP00000272907:p.Val440Ile	NA	A2RRN4|Q96NL2	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121708	0.77436	.	.	ENSG00000144460	ENST00000272907	T	0.33654	1.4	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	L	0.41824	1.3	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.41538	-0.9503	10	0.30854	T	0.27	-12.6994	18.7321	0.91739	0.0:0.0:1.0:0.0	.	440	Q9P242	K1486_HUMAN	I	440	ENSP00000272907:V440I	ENSP00000272907:V440I	V	+	1	0	KIAA1486	226155695	1.000000	0.71417	0.039000	0.18376	0.943000	0.58893	9.476000	0.97823	2.415000	0.81967	0.563000	0.77884	GTC	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331258.1		+	ENST00000272907.6	Missense_Mutation	SNP	2 : 226447451 - 226447451 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	182	31
OPCML	4978	broad.mit.edu	37	11	132307148	132307148	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:132307148G>A	ENST00000331898.7	-	4	1210	c.632C>T	c.(631-633)cCc>cTc	p.P211L	OPCML_ENST00000524381.1_Missense_Mutation_p.P204L|OPCML_ENST00000374778.4_Missense_Mutation_p.P170L|OPCML_ENST00000541867.1_Missense_Mutation_p.P211L|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	211	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CCGCACATCGGGCGCAGCGAC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	114	119			NA	NA	11		NA											NA				132307148		2201	4297	6498	SO:0001583	missense			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715	4978	4978		Immunoglobulin superfamily / I-set domain containing	8143	protein-coding gene	gene with protein product	IgLON family member 1	600632	opioid-binding protein/cell adhesion molecule-like		NA	8244387	Standard	NM_001012393	XM_005271578	NA	Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.632C>T	11.37:g.132307148G>A	ENSP00000330862:p.Pro211Leu	NA	Q17RN7	37	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825927	0.71143	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.59224	0.29;0.28;1.19;1.19	5.95	5.95	0.96441	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.77980	0.4212	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.997;0.997;0.995;0.997	T	0.78640	-0.2125	10	0.87932	D	0	-13.4278	19.9958	0.97383	0.0:0.0:1.0:0.0	.	211;204;210;211	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	L	211;204;170;178;211	ENSP00000330862:P211L;ENSP00000434750:P204L;ENSP00000363910:P170L;ENSP00000445496:P211L	ENSP00000330862:P211L	P	-	2	0	OPCML	131812358	1.000000	0.71417	0.320000	0.25306	0.040000	0.13550	9.476000	0.97823	2.825000	0.97269	0.655000	0.94253	CCC	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374689.3		-	ENST00000331898.7	Missense_Mutation	SNP	11 : 132307148 - 132307148 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	387	44
OR1C1	26188	broad.mit.edu	37	1	247920907	247920907	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:247920907G>T	ENST00000408896.2	-	1	1075	c.802C>A	c.(802-804)Cct>Act	p.P268T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCGCTCTCAGGCATATGGGGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	84	85			NA	NA	1		NA											NA				247920907		2021	4201	6222	SO:0001583	missense			X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888	26188	26188		GPCR / Class A : Olfactory receptors	8182	protein-coding gene	gene with protein product					NA	9119360	Standard		NM_012353	NA	Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.802C>A	1.37:g.247920907G>T	ENSP00000386138:p.Pro268Thr	NA	B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	37	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.835122	0.00579	.	.	ENSG00000221888	ENST00000408896	T	0.00207	8.55	3.22	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.11313	0.125	0.09310	N	1	B	0.22800	0.075	B	0.32393	0.145	T	0.09122	-1.0689	9	0.38643	T	0.18	.	5.286	0.15702	0.1055:0.0:0.5646:0.3299	.	268	Q15619	OR1C1_HUMAN	T	268	ENSP00000386138:P268T	ENSP00000386138:P268T	P	-	1	0	OR1C1	245987530	0.000000	0.05858	0.009000	0.14445	0.036000	0.12997	-0.309000	0.08145	0.681000	0.31386	0.591000	0.81541	CCT	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096855.1		-	ENST00000408896.2	Missense_Mutation	SNP	1 : 247920907 - 247920907 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	427	126
OR2T1	26696	broad.mit.edu	37	1	248569553	248569553	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:248569553C>A	ENST00000366474.1	+	1	258	c.258C>A	c.(256-258)ttC>ttA	p.F86L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATCTTCTTCACCGCACTGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	145	150			NA	NA	1		NA											NA				248569553		2203	4300	6503	SO:0001583	missense			U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143	26696	26696		GPCR / Class A : Olfactory receptors	8277	protein-coding gene	gene with protein product					NA	9500546	Standard		NM_030904	NA	Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.258C>A	1.37:g.248569553C>A	ENSP00000355430:p.Phe86Leu	NA	Q6IEZ9	37	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	c	1.274	-0.612375	0.03690	.	.	ENSG00000175143	ENST00000366474	T	0.00672	5.89	4.71	-0.642	0.11486	.	0.422262	0.17374	N	0.176578	T	0.00241	0.0007	N	0.00496	-1.435	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45323	-0.9269	10	0.02654	T	1	.	1.4067	0.02282	0.1474:0.2756:0.1437:0.4333	.	86	O43869	OR2T1_HUMAN	L	86	ENSP00000355430:F86L	ENSP00000355430:F86L	F	+	3	2	OR2T1	246636176	0.000000	0.05858	0.105000	0.21289	0.088000	0.18126	-4.701000	0.00196	0.213000	0.20722	0.557000	0.71058	TTC	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097346.2		+	ENST00000366474.1	Missense_Mutation	SNP	1 : 248569553 - 248569553 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	1008	143
OR4D5	219875	broad.mit.edu	37	11	123810974	123810974	+	Silent	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:123810974G>A	ENST00000307033.2	+	1	725	c.651G>A	c.(649-651)tcG>tcA	p.S217S		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTCTGGGATCGTACACAGCAC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													255	236	242			NA	NA	11		NA											NA				123810974		2202	4299	6501	SO:0001819	synonymous_variant			BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014	219875	219875		GPCR / Class A : Olfactory receptors	14852	protein-coding gene	gene with protein product					NA		Standard	NM_001001965	NM_001001965	NA	Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.651G>A	11.37:g.123810974G>A		NA	B9EGZ4|Q6IFE6	37	CCDS31699.1																																																																																			OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387263.1		+	ENST00000307033.2	Silent	SNP	11 : 123810974 - 123810974 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	811	7
PCDHA1	56147	broad.mit.edu	37	5	140167336	140167336	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:140167336C>T	ENST00000504120.2	+	1	1461	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	PCDHA1_ENST00000378133.3_Silent_p.N487N|PCDHA1_ENST00000394633.3_Silent_p.N487N	NM_018900.2	NP_061723.1			protocadherin alpha 1	NA								p.N487K(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGAGAACGCGCTGGTGT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											68	73	71			NA	NA	5		NA											NA				140167336		2203	4299	6502	SO:0001819	synonymous_variant			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970	56147	56147		Cadherins / Protocadherins : Clustered	8663	other	complex locus constituent	KIAA0345-like 13	606307			NA	10380929	Standard	NM_018900	NM_018900	NA	Approved			Q9Y5I3		ENST00000504120.2:c.1461C>T	5.37:g.140167336C>T		NA		37	CCDS54913.1																																																																																			PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389127.1		+	ENST00000504120.2	Silent	SNP	5 : 140167336 - 140167336 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	581	128
PCDHGB3	56102	broad.mit.edu	37	5	140751953	140751953	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:140751953C>T	ENST00000576222.1	+	1	2123	c.1992C>T	c.(1990-1992)ttC>ttT	p.F664F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			protocadherin gamma subfamily B, 3	NA										endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTAATCTTCGCAGATAGCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,,,,,,	0,4224		0,0,2112	67	73	71		,,,,,,,1992,1992	-1	0.5	5		71	1,8487		0,1,4243	no	intron,intron,intron,intron,intron,intron,intron,coding-synonymous,coding-synonymous	PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032097.1	,,,,,,,,	0,1,6355	TT,TC,CC	NA	0.0118,0.0,0.0079	,,,,,,,,	,,,,,,,664/930,664/815	140751953	1,12711	2112	4244	6356	SO:0001819	synonymous_variant			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26					56102	56102		Cadherins / Protocadherins : Clustered	8710	other	protocadherin		606301			NA	10380929	Standard	NM_018924	NM_018924	NA	Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1992C>T	5.37:g.140751953C>T		NA		37	CCDS58980.1																																																																																			PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437094.1		+	ENST00000576222.1	Silent	SNP	5 : 140751953 - 140751953 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	319	75
PKHD1	5314	broad.mit.edu	37	6	51944795	51944795	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr6:51944795G>A	ENST00000371117.3	-	5	568	c.293C>T	c.(292-294)tCt>tTt	p.S98F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S98F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	98	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGTGCTTCAGACAGCACAGA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	117	120			NA	NA	6		NA											NA				51944795		2203	4300	6503	SO:0001583	missense			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927	5314	5314			9016	protein-coding gene	gene with protein product	tigmin, polyductin, fibrocystin	606702	TIG multiple domains 1	TIGM1	NA	9503014	Standard	NM_138694	NM_138694	NA	Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.293C>T	6.37:g.51944795G>A	ENSP00000360158:p.Ser98Phe	NA	Q5VUA2|Q5VUA3|Q5VWV1|Q8TCZ9	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345983	0.41599	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88124	-2.13;-2.34	5.31	3.41	0.39046	.	0.768295	0.12007	N	0.508240	T	0.74951	0.3784	L	0.46157	1.445	0.09310	N	1	P;P	0.45474	0.859;0.779	B;B	0.40444	0.329;0.177	T	0.67452	-0.5667	10	0.62326	D	0.03	.	9.7386	0.40404	0.0:0.1492:0.6976:0.1532	.	98;98	P08F94-2;P08F94	.;PKHD1_HUMAN	F	98	ENSP00000360158:S98F;ENSP00000341097:S98F	ENSP00000341097:S98F	S	-	2	0	PKHD1	52052754	0.010000	0.17322	0.008000	0.14137	0.776000	0.43924	1.556000	0.36288	2.631000	0.89168	0.655000	0.94253	TCT	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040893.1		-	ENST00000371117.3	Missense_Mutation	SNP	6 : 51944795 - 51944795 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	417	99
PLAA	9373	broad.mit.edu	37	9	26919394	26919394	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:26919394A>G	ENST00000397292.3	-	9	1748	c.1331T>C	c.(1330-1332)cTg>cCg	p.L444P	PLAA_ENST00000520641.1_5'UTR|PLAA_ENST00000520884.1_Missense_Mutation_p.L444P	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	444	PFU.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TACTTGATCCAGAAACATAGG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(175;2670 2735 14091 35526)							NA				0													134	138	136			NA	NA	9		NA											NA				26919394		2203	4297	6500	SO:0001583	missense			AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055	9373	9373		WD repeat domain containing	9043	protein-coding gene	gene with protein product	DOA1 homolog (S. cerevisiae)	603873			NA	9931468, 10644453	Standard	NM_001031689	NM_001031689	NA	Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1331T>C	9.37:g.26919394A>G	ENSP00000380460:p.Leu444Pro	NA	Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	37	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.212242	0.79240	.	.	ENSG00000137055	ENST00000397292;ENST00000520884	T;T	0.61627	0.09;0.23	5.53	5.53	0.82687	PLAA family ubiquitin binding, PFU (2);	0.000000	0.85682	D	0.000000	T	0.81108	0.4754	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85613	0.1259	10	0.72032	D	0.01	-5.71	15.6677	0.77242	1.0:0.0:0.0:0.0	.	444;444	E5RIM3;Q9Y263	.;PLAP_HUMAN	P	444	ENSP00000380460:L444P;ENSP00000429372:L444P	ENSP00000380460:L444P	L	-	2	0	PLAA	26909394	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.059000	0.76684	2.092000	0.63282	0.482000	0.46254	CTG	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051958.2		-	ENST00000397292.3	Missense_Mutation	SNP	9 : 26919394 - 26919394 G PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	586	16
PLXNB2	23654	broad.mit.edu	37	22	50728171	50728171	+	Silent	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr22:50728171G>A	ENST00000449103.1	-	3	983	c.843C>T	c.(841-843)gcC>gcT	p.A281A	PLXNB2_ENST00000359337.4_Silent_p.A281A			O15031	PLXB2_HUMAN	plexin B2	281	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACGGAGGCGGCCAGGCAGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,3956		0,0,1978	29	33	32		843	-9.2	0	22		32	1,8299		0,1,4149	no	coding-synonymous	PLXNB2	NM_012401.3		0,1,6127	AA,AG,GG	NA	0.012,0.0,0.0082		281/1839	50728171	1,12255	1978	4150	6128	SO:0001819	synonymous_variant				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576	23654	23654		Plexins	9104	protein-coding gene	gene with protein product		604293			NA	10520995, 12183458	Standard	NM_012401	NM_012401	NA	Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.843C>T	22.37:g.50728171G>A		NA	A6QRH0|Q7KZU3|Q9BSU7	37	CCDS43035.1																																																																																			PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316874.3		-	ENST00000449103.1	Silent	SNP	22 : 50728171 - 50728171 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	153	25
PLXNC1	10154	broad.mit.edu	37	12	94620456	94620456	+	Silent	SNP	C	C	T	rs139278274	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:94620456C>T	ENST00000258526.4	+	8	2115	c.1866C>T	c.(1864-1866)tgC>tgT	p.C622C		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	622					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCACAGCTTGCGACCCTTCTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		6,4400	12.9+/-30.5	0,6,2197	172	165	167		1866	-5.5	0	12	dbSNP_134	167	0,8600		0,0,4300	no	coding-synonymous	PLXNC1	NM_005761.2		0,6,6497	TT,TC,CC	NA	0.0,0.1362,0.0461		622/1569	94620456	6,13000	2203	4300	6503	SO:0001819	synonymous_variant			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040	10154	10154		CD molecules, Plexins	9106	protein-coding gene	gene with protein product		604259			NA		Standard		NR_037687	NA	Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1866C>T	12.37:g.94620456C>T		NA	Q59H25	37	CCDS9049.1																																																																																			PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408126.2		+	ENST00000258526.4	Silent	SNP	12 : 94620456 - 94620456 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	451	5
PTPN12	5782	broad.mit.edu	37	7	77212936	77212936	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:77212936T>G	ENST00000248594.6	+	4	622	c.350T>G	c.(349-351)tTt>tGt	p.F117C	PTPN12_ENST00000415482.2_5'UTR|PTPN12_ENST00000435495.2_Intron	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	117	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GTAATAGATTTTTGGAGGATG	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	110	110			NA	NA	7		NA											NA				77212936		2203	4300	6503	SO:0001583	missense				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947	NA	5782		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9645	protein-coding gene	gene with protein product		600079			NA	7509295	Standard		NM_002835	NA	Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.350T>G	7.37:g.77212936T>G	ENSP00000248594:p.Phe117Cys	NA	Q16130|Q59FD6|Q75MN8|Q86XU4	37	CCDS5592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.31|18.31	3.594923|3.594923	0.66219|0.66219	.|.	.|.	ENSG00000127947|ENSG00000127947	ENST00000248594|ENST00000522115	T|.	0.39997|.	1.05|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Protein-tyrosine phosphatase, receptor/non-receptor type (4);|.	0.051905|0.051905	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.89339|0.89339	0.6687|0.6687	H|H	0.99626|0.99626	4.665|4.665	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.92460|0.92460	0.5977|0.5977	10|7	0.87932|0.87932	D|D	0|0	.|.	10.7297|10.7297	0.46089|0.46089	0.1422:0.0:0.0:0.8578|0.1422:0.0:0.0:0.8578	.|.	117|.	Q05209|.	PTN12_HUMAN|.	C|V	117|80	ENSP00000248594:F117C|.	ENSP00000248594:F117C|ENSP00000430726:F80V	F|F	+|+	2|1	0|0	PTPN12|PTPN12	77050872|77050872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.753000|4.753000	0.62183|0.62183	2.140000|2.140000	0.66376|0.66376	0.482000|0.482000	0.46254|0.46254	TTT|TTT	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253183.3		+	ENST00000248594.6	Missense_Mutation	SNP	7 : 77212936 - 77212936 G PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	415	81
PUM2	23369	broad.mit.edu	37	2	20508209	20508209	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:20508209G>A	ENST00000338086.5	-	5	677	c.655C>T	c.(655-657)Cct>Tct	p.P219S	PUM2_ENST00000403432.1_Missense_Mutation_p.P219S|PUM2_ENST00000319801.5_Missense_Mutation_p.P219S|PUM2_ENST00000420234.1_5'UTR|PUM2_ENST00000361078.2_Missense_Mutation_p.P219S|PUM2_ENST00000536417.1_Missense_Mutation_p.P163S	NM_001282752.1|NM_015317.1	NP_001269681.1|NP_056132.1	Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	219	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGTTTCAGGATTTGAAAAT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	85	85			NA	NA	2		NA											NA				20508209		2203	4300	6503	SO:0001583	missense			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917	23369	23369			14958	protein-coding gene	gene with protein product		607205	pumilio (Drosphila) homolog 2, pumilio homolog 2 (Drosophila)		NA	9039502, 12459267, 12511597	Standard	NM_015317	XM_005262607	NA	Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000338086.5:c.655C>T	2.37:g.20508209G>A	ENSP00000338173:p.Pro219Ser	NA	B3KSL0|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	37	CCDS1698.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581242	0.46006	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417;ENST00000442400	T;T;T;T;T;T	0.18016	2.31;2.58;2.58;2.24;2.31;2.31	6.07	4.22	0.49857	.	0.151121	0.64402	D	0.000008	T	0.08044	0.0201	N	0.08118	0	0.38222	D	0.94079	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.25882	-1.0119	10	0.21014	T	0.42	-4.9397	8.5974	0.33723	0.0667:0.0:0.5388:0.3945	.	163;219;219	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	S	219;219;219;110;219;163;219	ENSP00000338173:P219S;ENSP00000354370:P219S;ENSP00000326746:P219S;ENSP00000409905:P110S;ENSP00000385992:P219S;ENSP00000440093:P163S	ENSP00000326746:P219S	P	-	1	0	PUM2	20371690	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.825000	0.39081	0.840000	0.34995	0.650000	0.86243	CCT	PUM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000242862.1		-	ENST00000338086.5	Missense_Mutation	SNP	2 : 20508209 - 20508209 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	574	110
PYHIN1	149628	broad.mit.edu	37	1	158914733	158914733	+	Silent	SNP	G	G	A	rs150828296		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:158914733G>A	ENST00000368140.1	+	7	1505	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Silent_p.Q411Q|PYHIN1_ENST00000392252.3_Silent_p.Q411Q|PYHIN1_ENST00000392254.2_Silent_p.Q420Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	420					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AACAGAGTCAGCATCCAAAAC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	114	116			NA	NA	1		NA											NA				158914733		2203	4300	6503	SO:0001819	synonymous_variant			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564	149628	149628			28894	protein-coding gene	gene with protein product		612677			NA	15122330	Standard	NM_152501	NM_152501	NA	Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1260G>A	1.37:g.158914733G>A		NA	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	37	CCDS1178.1																																																																																			PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090110.1		+	ENST00000368140.1	Silent	SNP	1 : 158914733 - 158914733 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	360	5
PYROXD2	84795	broad.mit.edu	37	10	100157191	100157191	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:100157191G>A	ENST00000370575.4	-	6	584	c.536C>T	c.(535-537)gCg>gTg	p.A179V	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	179							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CACGGGGGCCGCATCCAGCAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	68	71			NA	NA	10		NA											NA				100157191		2203	4300	6503	SO:0001583	missense			AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943	84795	84795			23517	protein-coding gene	gene with protein product			chromosome 10 open reading frame 33	C10orf33	NA		Standard	NM_032709	NM_032709	NA	Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.536C>T	10.37:g.100157191G>A	ENSP00000359607:p.Ala179Val	NA	D3DR61|Q5TAA9|Q9BRQ1	37	CCDS7474.1	.	.	.	.	.	.	.	.	.	.	G	8.758	0.922912	0.18056	.	.	ENSG00000119943	ENST00000370575	T	0.58940	0.3	5.47	2.64	0.31445	.	0.420066	0.29424	N	0.012194	T	0.54143	0.1840	M	0.75447	2.3	0.29975	N	0.81819	B	0.09022	0.002	B	0.06405	0.002	T	0.51585	-0.8687	10	0.32370	T	0.25	-28.5325	10.5055	0.44832	0.2151:0.0:0.7849:0.0	.	179	Q8N2H3	PYRD2_HUMAN	V	179	ENSP00000359607:A179V	ENSP00000359607:A179V	A	-	2	0	PYROXD2	100147181	0.339000	0.24784	0.199000	0.23439	0.516000	0.34256	2.976000	0.49289	0.301000	0.22738	-1.060000	0.02296	GCG	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049782.2		-	ENST00000370575.4	Missense_Mutation	SNP	10 : 100157191 - 100157191 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	372	5
RNF114	55905	broad.mit.edu	37	20	48561946	48561946	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:48561946G>A	ENST00000244061.2	+	3	321	c.319G>A	c.(319-321)Gtg>Atg	p.V107M		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	107					cell differentiation|multicellular organismal development|spermatogenesis	intracellular	zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						CCGGTCCCACGTGGCTACTTG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	128	138			NA	NA	20		NA											NA				48561946		2203	4300	6503	SO:0001583	missense			AF265215	CCDS33482.1	20q13	2013-01-09	2008-06-16	2008-06-16	ENSG00000124226	ENSG00000124226	55905	55905		RING-type (C3HC4) zinc fingers	13094	protein-coding gene	gene with protein product		612451	zinc finger protein 313	ZNF313	NA	18364390	Standard	NM_018683	NM_018683	NA	Approved	PSORS12	uc002xux.3	Q9Y508	OTTHUMG00000032709	ENST00000244061.2:c.319G>A	20.37:g.48561946G>A	ENSP00000244061:p.Val107Met	NA	B2RDQ9|B4DWY5|E1P627|Q6N0B0	37	CCDS33482.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496437	0.44352	.	.	ENSG00000124226	ENST00000449816;ENST00000244061	T	0.81078	-1.45	5.97	5.02	0.67125	.	0.234988	0.44688	D	0.000431	T	0.73984	0.3657	L	0.46157	1.445	0.26976	N	0.965477	P;B	0.52842	0.956;0.282	B;B	0.43508	0.422;0.041	T	0.70263	-0.4920	10	0.42905	T	0.14	-6.465	9.5071	0.39053	0.0741:0.0:0.7856:0.1403	.	107;107	Q9Y508-2;Q9Y508	.;RN114_HUMAN	M	107	ENSP00000244061:V107M	ENSP00000244061:V107M	V	+	1	0	RNF114	47995353	1.000000	0.71417	0.977000	0.42913	0.934000	0.57294	4.718000	0.61930	2.833000	0.97629	0.585000	0.79938	GTG	RNF114-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079663.1		+	ENST00000244061.2	Missense_Mutation	SNP	20 : 48561946 - 48561946 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	252	44
S1PR1	1901	broad.mit.edu	37	1	101705012	101705012	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:101705012T>G	ENST00000305352.6	+	2	847	c.472T>G	c.(472-474)Ttc>Gtc	p.F158V	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	158					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GAGCAATAACTTCCGCCTCTT	0.557		NA									OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	93	95			NA	NA	1		NA											NA				101705012		2203	4300	6503	SO:0001583	missense			M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989	1901	1901		GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate, CD molecules	3165	protein-coding gene	gene with protein product		601974	endothelial differentiation, sphingolipid G-protein-coupled receptor, 1	EDG1	NA	2160972, 9488656	Standard	NM_001400	NM_001400	NA	Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.472T>G	1.37:g.101705012T>G	ENSP00000305416:p.Phe158Val	1360	D3DT66|Q9BYY4|Q9NYN8	37	CCDS777.1	.	.	.	.	.	.	.	.	.	.	T	6.195	0.404153	0.11754	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.36699	1.24	5.46	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	0.270993	0.42964	D	0.000624	T	0.04588	0.0125	N	0.02916	-0.46	0.31924	N	0.613066	B	0.02656	0.0	B	0.06405	0.002	T	0.38067	-0.9678	10	0.17369	T	0.5	.	7.8339	0.29360	0.0:0.0721:0.1384:0.7895	.	158	P21453	S1PR1_HUMAN	V	158	ENSP00000305416:F158V	ENSP00000305416:F158V	F	+	1	0	S1PR1	101477600	1.000000	0.71417	0.972000	0.41901	0.514000	0.34195	3.361000	0.52306	0.918000	0.36919	0.374000	0.22700	TTC	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029908.1		+	ENST00000305352.6	Missense_Mutation	SNP	1 : 101705012 - 101705012 G PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	293	73
SGIP1	84251	broad.mit.edu	37	1	67147855	67147855	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:67147855C>T	ENST00000371037.4	+	15	1195	c.1118C>T	c.(1117-1119)cCg>cTg	p.P373L	SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P377L|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	373	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GTACTATCGCCGCTCAATTTA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	96	90			NA	NA	1		NA											NA				67147855		2203	4300	6503	SO:0001583	missense			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473	84251	84251			25412	protein-coding gene	gene with protein product		611540			NA	11230166	Standard	NM_032291	NM_032291	NA	Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1118C>T	1.37:g.67147855C>T	ENSP00000360076:p.Pro373Leu	NA	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	37	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068566	0.76301	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.03152	4.03;4.03	5.19	4.26	0.50523	.	0.113033	0.64402	D	0.000010	T	0.07369	0.0186	L	0.47716	1.5	0.80722	D	1	D;B	0.89917	1.0;0.014	D;B	0.79108	0.992;0.005	T	0.13229	-1.0517	10	0.52906	T	0.07	-9.3174	13.4763	0.61310	0.0:0.9243:0.0:0.0757	.	376;373	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	L	377;376;376;373	ENSP00000237247:P377L;ENSP00000360076:P373L	ENSP00000237247:P377L	P	+	2	0	SGIP1	66920443	0.996000	0.38824	1.000000	0.80357	0.965000	0.64279	4.809000	0.62591	2.570000	0.86706	0.455000	0.32223	CCG	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025395.4		+	ENST00000371037.4	Missense_Mutation	SNP	1 : 67147855 - 67147855 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	617	131
SIGLEC1	6614	broad.mit.edu	37	20	3687258	3687258	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:3687258C>T	ENST00000344754.4	-	2	144	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V49M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	49	Ig-like V-type.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCACCTCCACGTCGGCAGGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	18	20			NA	NA	20		NA											NA				3687258		2202	4299	6501	SO:0001583	missense			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827	6614	6614		CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	11127	protein-coding gene	gene with protein product		600751	sialoadhesin	SN	NA	8530048	Standard	NM_023068	XM_006723610	NA	Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.145G>A	20.37:g.3687258C>T	ENSP00000341141:p.Val49Met	NA	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926139	0.52759	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.22336	1.96;1.96	5.01	1.48	0.22813	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.207799	0.24185	N	0.040780	T	0.36908	0.0984	M	0.70595	2.14	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.09207	-1.0685	10	0.62326	D	0.03	.	3.7683	0.08632	0.0:0.5395:0.1965:0.2641	.	49;49	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	M	49	ENSP00000341141:V49M;ENSP00000202578:V49M	ENSP00000202578:V49M	V	-	1	0	SIGLEC1	3635258	0.133000	0.22466	0.002000	0.10522	0.058000	0.15608	0.940000	0.28992	0.416000	0.25844	0.563000	0.77884	GTG	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077761.2		-	ENST00000344754.4	Missense_Mutation	SNP	20 : 3687258 - 3687258 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	77	4
SLC12A7	10723	broad.mit.edu	37	5	1074737	1074737	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:1074737C>A	ENST00000264930.5	-	16	2060	c.2017G>T	c.(2017-2019)Gcc>Tcc	p.A673S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	673					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCGTAGCGGGCGGCGTTCAGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	53	55			NA	NA	5		NA											NA				1074737		2202	4298	6500	SO:0001583	missense			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504	10723	10723		Solute carriers	10915	protein-coding gene	gene with protein product		604879			NA	10347194	Standard	NM_006598	NM_006598	NA	Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2017G>T	5.37:g.1074737C>A	ENSP00000264930:p.Ala673Ser	NA	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	37	CCDS34129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.40|18.40	3.616049|3.616049	0.66672|0.66672	.|.	.|.	ENSG00000113504|ENSG00000113504	ENST00000264930|ENST00000513223	D|.	0.98862|.	-5.19|.	4.11|4.11	4.11|4.11	0.48088|0.48088	Amino acid permease domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84097|0.84097	0.5397|0.5397	M|M	0.92459|0.92459	3.31|3.31	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.88363|0.88363	0.2989|0.2989	10|5	0.87932|.	D|.	0|.	.|.	14.1738|14.1738	0.65527|0.65527	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	673|.	Q9Y666|.	S12A7_HUMAN|.	S|L	673|30	ENSP00000264930:A673S|.	ENSP00000264930:A673S|.	A|R	-|-	1|2	0|0	SLC12A7|SLC12A7	1127737|1127737	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.045000|0.045000	0.14185|0.14185	6.881000|6.881000	0.75584|0.75584	1.996000|1.996000	0.58369|0.58369	0.313000|0.313000	0.20887|0.20887	GCC|CGC	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366446.2		-	ENST00000264930.5	Missense_Mutation	SNP	5 : 1074737 - 1074737 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	244	48
SLC2A7	155184	broad.mit.edu	37	1	9085071	9085071	+	Silent	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:9085071G>A	ENST00000400906.1	-	2	113	c.114C>T	c.(112-114)taC>taT	p.Y38Y		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	38						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GGTTGTAGCCGTACTGGAAGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	52	52			NA	NA	1		NA											NA				9085071		2203	4300	6503	SO:0001819	synonymous_variant			AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241	155184	155184		Solute carriers	13445	protein-coding gene	gene with protein product	intestinal facilitative glucose transporter 7	610371			NA	11780753	Standard	NM_207420	NM_207420	NA	Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.114C>T	1.37:g.9085071G>A		NA	A2A333	37	CCDS98.2																																																																																			SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000127768.3		-	ENST00000400906.1	Silent	SNP	1 : 9085071 - 9085071 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	331	55
SLC9C1	285335	broad.mit.edu	37	3	112005603	112005603	+	Silent	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:112005603A>G	ENST00000305815.5	-	2	288	c.36T>C	c.(34-36)acT>acC	p.T12T	SLC9C1_ENST00000487372.1_Silent_p.T12T|SLC9C1_ENST00000467397.1_5'UTR	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	12					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity				NA						GGAGGTCCTCAGTACTGAAAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	64	64			NA	NA	3		NA											NA				112005603		2203	4298	6501	SO:0001819	synonymous_variant			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139	285335	285335		Solute carriers	31401	protein-coding gene	gene with protein product	sperm-NHE	612738	solute carrier family 9, isoform 10, solute carrier family 9, member 10	SLC9A10	NA	12783626	Standard	NM_183061	NM_183061	NA	Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.36T>C	3.37:g.112005603A>G		NA	Q6ZRP4|Q7RTP2	37	CCDS33817.1																																																																																			SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354066.1		-	ENST00000305815.5	Silent	SNP	3 : 112005603 - 112005603 G PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	235	8
SPESP1	246777	broad.mit.edu	37	15	69238112	69238112	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr15:69238112A>G	ENST00000310673.3	+	2	393	c.239A>G	c.(238-240)cAt>cGt	p.H80R	NOX5_ENST00000260364.5_Intron|NOX5_ENST00000455873.3_Intron|SPESP1_ENST00000560188.1_3'UTR|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	80					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CTAGTTACACATGGAGACGCT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	104	104			NA	NA	15		NA											NA				69238112		2200	4298	6498	SO:0001583	missense			AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484	246777	246777			15570	protein-coding gene	gene with protein product		609399			NA	12773409	Standard	NM_145658	NM_145658	NA	Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.239A>G	15.37:g.69238112A>G	ENSP00000312284:p.His80Arg	NA	Q8NG22|Q8WVH8	37	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	A	1.739	-0.492198	0.04322	.	.	ENSG00000258484	ENST00000310673	T	0.20738	2.05	4.62	-1.08	0.09936	.	0.742875	0.11558	N	0.552026	T	0.14614	0.0353	L	0.32530	0.975	0.09310	N	1	B	0.32160	0.358	B	0.33521	0.165	T	0.25779	-1.0122	10	0.41790	T	0.15	-0.9374	7.6284	0.28226	0.3289:0.5445:0.0:0.1265	.	80	Q6UW49	SPESP_HUMAN	R	80	ENSP00000312284:H80R	ENSP00000312284:H80R	H	+	2	0	SPESP1	67025166	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.104000	0.15313	-0.050000	0.13356	-0.313000	0.08912	CAT	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257125.1		+	ENST00000310673.3	Missense_Mutation	SNP	15 : 69238112 - 69238112 G PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	414	9
ST8SIA5	29906	broad.mit.edu	37	18	44272163	44272163	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:44272163C>A	ENST00000315087.7	-	3	940	c.280G>T	c.(280-282)Gcg>Tcg	p.A94S	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.A130S|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.A63S	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	94					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						ATGTTCATCGCCCATTTGCAC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													228	153	178			NA	NA	18		NA											NA				44272163		2203	4300	6503	SO:0001583	missense			U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638	29906	29906		Sialyltransferases	17827	protein-coding gene	gene with protein product	ST8Sia V	607162	sialyltransferase 8E (alpha-2, 8-polysialytransferase)	SIAT8E	NA	9199191	Standard	NM_013305	XM_005258250	NA	Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.280G>T	18.37:g.44272163C>A	ENSP00000321343:p.Ala94Ser	NA	Q6IAW7	37	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627958	0.28978	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.43294	0.97;0.95;1.57	4.89	4.02	0.46733	.	0.249281	0.40064	N	0.001183	T	0.30823	0.0777	L	0.29908	0.895	0.34705	D	0.727107	B;B;B;B	0.16166	0.008;0.006;0.001;0.016	B;B;B;B	0.18561	0.017;0.004;0.003;0.022	T	0.32534	-0.9903	10	0.23302	T	0.38	.	13.3123	0.60386	0.0:0.923:0.0:0.077	.	63;130;63;94	F5H8D1;B7Z1K9;B7Z5F7;O15466	.;.;.;SIA8E_HUMAN	S	94;130;63	ENSP00000321343:A94S;ENSP00000445492:A130S;ENSP00000443683:A63S	ENSP00000321343:A94S	A	-	1	0	ST8SIA5	42526161	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.591000	0.67536	1.199000	0.43173	0.555000	0.69702	GCG	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255892.1		-	ENST00000315087.7	Missense_Mutation	SNP	18 : 44272163 - 44272163 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	344	70
STYXL1	51657	broad.mit.edu	37	7	75634627	75634627	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:75634627C>T	ENST00000451157.1	-	6	718	c.549G>A	c.(547-549)aaG>aaA	p.K183K	STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000340062.5_Silent_p.K87K|STYXL1_ENST00000359697.3_Silent_p.K183K|STYXL1_ENST00000248600.1_Silent_p.K183K|STYXL1_ENST00000431581.1_Silent_p.K183K			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	183	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TTTTCAAGTCCTTCTGAATCT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	96	98			NA	NA	7		NA											NA				75634627		2203	4300	6503	SO:0001819	synonymous_variant			AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952	51657	51657		Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases	18165	protein-coding gene	gene with protein product			dual specificity phosphatase 24 (putative)	DUSP24	NA	9757831	Standard	NM_016086	NM_016086	NA	Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000451157.1:c.549G>A	7.37:g.75634627C>T		NA	Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	37																																																																																				STYXL1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000344823.1		-	ENST00000451157.1	Silent	SNP	7 : 75634627 - 75634627 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	443	74
SYNE2	23224	broad.mit.edu	37	14	64468799	64468799	+	Splice_Site	SNP	G	G	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:64468799G>C	ENST00000554584.1	+	28	3837	c.3786G>C	c.(3784-3786)agG>agC	p.R1262S	SYNE2_ENST00000358025.3_Splice_Site_p.R1262S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Splice_Site_p.R1262S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1262					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACACCTAAGGGTAAGTATAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	106	108			NA	NA	14		NA											NA				64468799		1862	4096	5958	SO:0001630	splice_region_variant			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654	23224	23224			17084	protein-coding gene	gene with protein product	nuclear envelope spectrin repeat-2, nucleus and actin connecting element	608442			NA	10231032, 10878022	Standard	NM_182914	NM_182910	NA	Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000554584.1:c.3786+1G>C	14.37:g.64468799G>C		NA	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	37		.	.	.	.	.	.	.	.	.	.	G	12.13	1.844143	0.32606	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.59224	0.66;0.66;0.28	5.41	5.41	0.78517	.	0.323796	0.26446	N	0.024340	T	0.48732	0.1516	L	0.47716	1.5	0.80722	D	1	P;P	0.38504	0.501;0.634	B;B	0.28011	0.039;0.085	T	0.51450	-0.8704	10	0.39692	T	0.17	.	17.3435	0.87304	0.0:0.0:1.0:0.0	.	1262;1262	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	S	1262	ENSP00000350719:R1262S;ENSP00000341781:R1262S;ENSP00000452570:R1262S	ENSP00000261678:R1262S	R	+	3	2	SYNE2	63538552	1.000000	0.71417	0.941000	0.38009	0.045000	0.14185	5.812000	0.69194	2.709000	0.92574	0.655000	0.94253	AGG	SYNE2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411905.1	Missense_Mutation	+	ENST00000554584.1	Splice_Site	SNP	14 : 64468799 - 64468799 C PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	463	91
SZT2	23334	broad.mit.edu	37	1	43902866	43902866	+	Missense_Mutation	SNP	C	C	T	rs143602595		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:43902866C>T	ENST00000562955.1	+	42	5888	c.5888C>T	c.(5887-5889)gCg>gTg	p.A1963V	SZT2_ENST00000372442.1_Missense_Mutation_p.A1121V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2020						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GAGAGCTGTGCGCCCCGTGGG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	0,4406		0,0,2203	115	112	113		5888	3.9	1	1	dbSNP_134	113	2,8598	2.2+/-6.3	0,2,4298	no	missense	SZT2	NM_015284.3	64	0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154	benign	1963/3376	43902866	2,13004	2203	4300	6503	SO:0001583	missense			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198	23334	23334			29040	protein-coding gene	gene with protein product	seizure threshold 2 homolog A (mouse), seizure threshold 2 homolog B (mouse)	615463	chromosome 1 open reading frame 84, KIAA0467	C1orf84, KIAA0467	NA	9455484	Standard	NM_015284	NM_015284	NA	Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.5888C>T	1.37:g.43902866C>T	ENSP00000457168:p.Ala1963Val	NA	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859171	0.51376	0.0	2.33E-4	ENSG00000198198	ENST00000372442	.	.	.	5.86	3.88	0.44766	.	0.255324	0.38663	N	0.001618	T	0.11922	0.0290	N	0.08118	0	0.24335	N	0.994987	P	0.35774	0.519	B	0.24269	0.052	T	0.13980	-1.0489	9	0.27785	T	0.31	.	8.642	0.33983	0.3233:0.5576:0.1191:0.0	.	1963	Q5T011-5	.	V	1121	.	ENSP00000361519:A1121V	A	+	2	0	SZT2	43675453	1.000000	0.71417	0.992000	0.48379	0.801000	0.45260	5.486000	0.66856	1.475000	0.48197	0.655000	0.94253	GCG	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019517.3		+	ENST00000562955.1	Missense_Mutation	SNP	1 : 43902866 - 43902866 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	458	6
TAF1	6872	broad.mit.edu	37	X	70642968	70642970	+	Splice_Site	DEL	AAG	AAG	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	AAG	AAG	-	-	AAG	AAG	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:70642968_70642970delAAG	ENST00000373790.4	+	30	4502_4504	c.4451_4453delAAG	c.(4450-4455)aaagaa>aaa	p.E1485del	TAF1_ENST00000276072.3_Splice_Site_p.E1506del|TAF1_ENST00000423759.1_Splice_Site_p.E1506del|TAF1_ENST00000449580.1_Splice_Site_p.E1485del	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1485	Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TAATTTCAGAAAGAAGACAAATT	0.443		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:0001630	splice_region_variant				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133	6872	6872		Chromatin-modifying enzymes / K-acetyltransferases	11535	protein-coding gene	gene with protein product		313650	TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD, dystonia 3 (with Parkinsonism)	TAF2A, BA2R, CCG1, CCGS, DYT3	NA	3556424, 12928496, 17952504	Standard	NM_004606	XM_005262295	NA	Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4450-1AAG>-	X.37:g.70642971_70642973delAAG		NA	A5CVD0|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	37	CCDS35325.1																																																																																			TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058995.2	In_Frame_Del	+	ENST00000373790.4	Splice_Site	DEL	X : 70642968 - 70642970 - PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	250	95
TEP1	7011	broad.mit.edu	37	14	20869179	20869179	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:20869179G>A	ENST00000556935.1	-	7	1228	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	TEP1_ENST00000262715.5_Missense_Mutation_p.R505W			Q99973	TEP1_HUMAN	telomerase-associated protein 1	505	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTGTTCCCCCGTAGGCTCAGC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	117	125			NA	NA	14		NA											NA				20869179		2203	4300	6503	SO:0001583	missense				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566	7011	7011		WD repeat domain containing	11726	protein-coding gene	gene with protein product	TROVE domain family, member 1	601686			NA	9403057	Standard	NM_007110	NM_007110	NA	Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000556935.1:c.1189C>T	14.37:g.20869179G>A	ENSP00000452574:p.Arg397Trp	NA	A0AUV9	37		.	.	.	.	.	.	.	.	.	.	G	15.53	2.860278	0.51482	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.15718	2.4;2.4	5.71	2.77	0.32553	TROVE (2);	0.542528	0.20377	N	0.093526	T	0.17789	0.0427	M	0.64997	1.995	0.20307	N	0.999916	B;B	0.22346	0.022;0.068	B;B	0.17722	0.008;0.019	T	0.18335	-1.0340	10	0.87932	D	0	-9.617	8.5605	0.33507	0.0721:0.0:0.4738:0.4541	.	397;505	G3V5X7;Q99973	.;TEP1_HUMAN	W	505;505;397	ENSP00000262715:R505W;ENSP00000452574:R397W	ENSP00000262715:R505W	R	-	1	2	TEP1	19939019	0.002000	0.14202	0.333000	0.25482	0.410000	0.31052	0.233000	0.17911	0.752000	0.32923	0.555000	0.69702	CGG	TEP1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410689.1		-	ENST00000556935.1	Missense_Mutation	SNP	14 : 20869179 - 20869179 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	300	4
TGFBR2	7048	broad.mit.edu	37	3	30713755	30713758	+	Frame_Shift_Del	DEL	CCTC	CCTC	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	CCTC	CCTC	-	-	CCTC	CCTC	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:30713755_30713758delCCTC	ENST00000295754.5	+	4	1462_1465	c.1080_1083delCCTC	c.(1078-1083)cacctcfs	p.HL360fs	TGFBR2_ENST00000359013.4_Frame_Shift_Del_p.HL385fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	360	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGATTGCTCACCTCCACAGTGATC	0.608		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				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513	7048	7048			11773	protein-coding gene	gene with protein product		190182	transforming growth factor, beta receptor II (70-80kD)	MFS2	NA	1319842, 15235604	Standard		NM_001024847	NA	Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1080_1083delCCTC	3.37:g.30713755_30713758delCCTC	ENSP00000295754:p.His360fs	NA	B4DTV5|Q15580|Q6DKT6|Q99474	37	CCDS2648.1																																																																																			TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252994.2		+	ENST00000295754.5	Frame_Shift_Del	DEL	3 : 30713755 - 30713758 - PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	540	96
TLL2	7093	broad.mit.edu	37	10	98157035	98157035	+	Missense_Mutation	SNP	G	G	A	rs142713663	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:98157035G>A	ENST00000357947.3	-	11	1517	c.1292C>T	c.(1291-1293)cCg>cTg	p.P431L	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	431	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GAGGGGCTCCGGGATCTTATC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/PRO	0,4406		0,0,2203	53	49	50		1292	5.1	0.5	10	dbSNP_134	50	9,8591	7.1+/-27.0	0,9,4291	yes	missense	TLL2	NM_012465.3	98	0,9,6494	AA,AG,GG	NA	0.1047,0.0,0.0692	probably-damaging	431/1016	98157035	9,12997	2203	4300	6503	SO:0001583	missense			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587	7093	7093			11844	protein-coding gene	gene with protein product		606743			NA	10516436	Standard		NM_012465	NA	Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1292C>T	10.37:g.98157035G>A	ENSP00000350630:p.Pro431Leu	NA	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	37	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868544	0.72065	0.0	0.001047	ENSG00000095587	ENST00000357947	T	0.39406	1.08	5.11	5.11	0.69529	CUB (5);	0.000000	0.45361	D	0.000368	T	0.72590	0.3479	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76716	-0.2857	10	0.40728	T	0.16	.	17.7077	0.88313	0.0:0.0:1.0:0.0	.	431	Q9Y6L7	TLL2_HUMAN	L	431	ENSP00000350630:P431L	ENSP00000350630:P431L	P	-	2	0	TLL2	98147025	1.000000	0.71417	0.486000	0.27416	0.177000	0.22998	9.464000	0.97655	2.654000	0.90174	0.650000	0.86243	CCG	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049608.1		-	ENST00000357947.3	Missense_Mutation	SNP	10 : 98157035 - 98157035 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	210	22
TMC5	79838	broad.mit.edu	37	16	19488791	19488791	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:19488791G>A	ENST00000541464.1	+	12	2506	c.1964G>A	c.(1963-1965)gGc>gAc	p.G655D	TMC5_ENST00000564959.1_Missense_Mutation_p.G390D|TMC5_ENST00000542583.2_Missense_Mutation_p.G707D|TMC5_ENST00000396229.2_Missense_Mutation_p.G707D|TMC5_ENST00000381414.4_Missense_Mutation_p.G707D|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000219821.5_Missense_Mutation_p.G461D|TMC5_ENST00000561503.1_Missense_Mutation_p.G348D			Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	707						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCAATCATTGGCATTCTTTGT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													247	228	234			NA	NA	16		NA											NA				19488791		2197	4300	6497	SO:0001583	missense			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534	79838	79838			22999	protein-coding gene	gene with protein product					NA	12812529, 12906855	Standard	NM_024780	NM_024780	NA	Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000541464.1:c.1964G>A	16.37:g.19488791G>A	ENSP00000441227:p.Gly655Asp	NA	Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	37		.	.	.	.	.	.	.	.	.	.	G	18.05	3.537353	0.65085	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.69561	-0.41;-0.03;-0.03;-0.03;-0.03	4.33	4.33	0.51752	.	0.193755	0.43579	D	0.000559	T	0.81781	0.4895	M	0.81802	2.56	0.51233	D	0.99991	D;D;D;D;D;D	0.89917	1.0;0.996;0.999;0.998;0.999;1.0	D;D;D;D;D;D	0.81914	0.992;0.954;0.982;0.94;0.981;0.995	T	0.82625	-0.0365	10	0.38643	T	0.18	-14.3434	16.7528	0.85490	0.0:0.0:1.0:0.0	.	655;390;461;461;707;707	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	D	655;707;707;707;461;390	ENSP00000441227:G655D;ENSP00000370822:G707D;ENSP00000379531:G707D;ENSP00000446274:G707D;ENSP00000219821:G461D	ENSP00000219821:G461D	G	+	2	0	TMC5	19396292	1.000000	0.71417	0.998000	0.56505	0.422000	0.31414	7.615000	0.83006	2.112000	0.64535	0.655000	0.94253	GGC	TMC5-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000435887.1		+	ENST00000541464.1	Missense_Mutation	SNP	16 : 19488791 - 19488791 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	734	132
TP53	7157	broad.mit.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:7578555C>A	ENST00000420246.2	-	5	508		c.e5-1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	NA					activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGGGAGTACTGTAGGAAGA	0.552		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	51	Unknown(39)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	ovary(9)|pancreas(6)|bone(5)|upper_aerodigestive_tract(4)|liver(4)|lung(4)|breast(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(1)											42	42	42			NA	NA	17		NA											NA				7578555		2203	4300	6503	SO:0001630	splice_region_variant	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.376-1G>T	17.37:g.7578555C>A		NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370877	0.61624	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.87	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4246	0.50003	0.0:0.9094:0.0:0.0906	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519280	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.639000	0.83342	1.359000	0.45940	0.655000	0.94253	.	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1	Intron	-	ENST00000420246.2	Splice_Site	SNP	17 : 7578555 - 7578555 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	129	38
TTC21A	199223	broad.mit.edu	37	3	39177931	39177931	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:39177931G>A	ENST00000431162.2	+	23	3183	c.3049G>A	c.(3049-3051)Gcc>Acc	p.A1017T	TTC21A_ENST00000301819.6_Missense_Mutation_p.A1018T|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Missense_Mutation_p.A969T			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1017							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTTTGAATTGGCCAAGAAGGT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	143	142			NA	NA	3		NA											NA				39177931		1891	4116	6007	SO:0001583	missense			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026	199223	199223		Tetratricopeptide (TTC) repeat domain containing	30761	protein-coding gene	gene with protein product		611430			NA		Standard	NM_145755	NM_145755	NA	Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3049G>A	3.37:g.39177931G>A	ENSP00000398211:p.Ala1017Thr	NA	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	37	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175489	0.38413	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.54479	0.57;0.57;0.57	4.79	2.7	0.31948	Tetratricopeptide repeat-containing (1);	0.648196	0.14838	N	0.295467	T	0.57095	0.2030	M	0.73430	2.235	0.09310	N	1	B;B;B	0.27416	0.178;0.005;0.003	B;B;B	0.33960	0.173;0.015;0.006	T	0.57370	-0.7823	10	0.66056	D	0.02	-5.5503	13.7973	0.63180	0.0:0.0:0.7115:0.2885	.	969;1018;1017	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	T	1018;1000;1017;969	ENSP00000301819:A1018T;ENSP00000398211:A1017T;ENSP00000410882:A969T	ENSP00000301819:A1018T	A	+	1	0	TTC21A	39152935	1.000000	0.71417	0.027000	0.17364	0.857000	0.48899	1.702000	0.37836	0.990000	0.38787	0.462000	0.41574	GCC	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377829.1		+	ENST00000431162.2	Missense_Mutation	SNP	3 : 39177931 - 39177931 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	439	7
TTN	7273	broad.mit.edu	37	2	179455476	179455476	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:179455476C>T	ENST00000589042.1	-	304	61200	c.60976G>A	c.(60976-60978)Gct>Act	p.A20326T	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17758T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A11261T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A11386T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11453T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A18685T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18685	Fibronectin type-III 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGGTCAGCGATAGGTGTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,3812		0,0,1906	138	132	134		34357,34156,53272,33781	0.8	0	2		134	1,8267		0,1,4133	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	58,58,58,58	0,1,6039	TT,TC,CC	NA	0.0121,0.0,0.0083	benign,benign,benign,benign	11453/27119,11386/27052,17758/33424,11261/26927	179455476	1,12079	1906	4134	6040	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.60976G>A	2.37:g.179455476C>T	ENSP00000467141:p.Ala20326Thr	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	6.198	0.404659	0.11754	0.0	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	6.11	0.782	0.18567	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35158	0.0922	N	0.13352	0.335	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.28396	-1.0045	9	0.87932	D	0	.	11.1443	0.48422	0.0:0.2701:0.5822:0.1477	.	11261;11386;11453;18685	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	17758;11261;11453;11386;11259	ENSP00000343764:A17758T;ENSP00000434586:A11261T;ENSP00000340554:A11453T;ENSP00000352154:A11386T	ENSP00000340554:A11453T	A	-	1	0	TTN	179163722	0.086000	0.21541	0.001000	0.08648	0.796000	0.44982	0.327000	0.19663	-0.131000	0.11578	0.655000	0.94253	GCT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179455476 - 179455476 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	484	7
UGT1A1	54658	broad.mit.edu	37	2	234526363	234526363	+	Missense_Mutation	SNP	A	A	G	rs150485330		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:234526363A>G	ENST00000373450.4	+	1	73	c.10A>G	c.(10-12)Aca>Gca	p.T4A		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	NA					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.T4A(3)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CATGGCTCGCACAGGGTGGAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	prostate(1)|lung(1)|kidney(1)											61	53	56			NA	NA	2		NA											NA				234526363		2203	4300	6503	SO:0001583	missense			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	54658	54658	2.4.1.17	UDP glucuronosyltransferases	12530	other	complex locus constituent		191740	UDP glycosyltransferase 1 family, polypeptide A1	UGT1, GNT1	NA	9295054, 9535849	Standard		NM_000463	NA	Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.10A>G	2.37:g.234526363A>G	ENSP00000362549:p.Thr4Ala	NA		37	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	A	1.349	-0.591910	0.03799	.	.	ENSG00000242366	ENST00000373450	T	0.57273	0.41	3.96	-1.46	0.08800	.	.	.	.	.	T	0.20577	0.0495	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27331	-1.0077	9	0.06891	T	0.86	.	5.6018	0.17357	0.3817:0.1909:0.4274:0.0	.	4;4	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	A	4	ENSP00000362549:T4A	ENSP00000362549:T4A	T	+	1	0	UGT1A8	234191102	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	0.041000	0.13927	-0.096000	0.12329	-1.318000	0.01297	ACA	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130994.1		+	ENST00000373450.4	Missense_Mutation	SNP	2 : 234526363 - 234526363 G PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	325	5
ZNF709	163051	broad.mit.edu	37	19	12576048	12576048	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:12576048C>T	ENST00000397732.3	-	4	859	c.688G>A	c.(688-690)Ggg>Agg	p.G230R	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.G230R	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						AACGTTTTCCCGCATTCTTTA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(33;565 669 12371 29134 51667)							NA				0													102	106	104			NA	NA	19		NA											NA				12576048		2197	4300	6497	SO:0001583	missense			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852	163051	163051		Zinc fingers, C2H2-type, -	20629	protein-coding gene	gene with protein product					NA		Standard	NM_152601	NM_152601	NA	Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.688G>A	19.37:g.12576048C>T	ENSP00000380840:p.Gly230Arg	NA		37	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397133	0.62177	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.03524	3.9;3.9	2.4	0.0633	0.14348	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34676	N	0.003765	T	0.12732	0.0309	M	0.77616	2.38	0.30398	N	0.780325	D	0.89917	1.0	D	0.78314	0.991	T	0.01972	-1.1237	10	0.66056	D	0.02	.	6.0058	0.19544	0.0:0.6798:0.1959:0.1243	.	230	Q8N972	ZN709_HUMAN	R	230	ENSP00000380840:G230R;ENSP00000404127:G230R	ENSP00000404127:G230R	G	-	1	0	ZNF709;CTD-2192J16.17	12437048	0.059000	0.20769	0.201000	0.23476	0.396000	0.30629	1.548000	0.36201	0.097000	0.17492	0.313000	0.20887	GGG	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344088.1		-	ENST00000397732.3	Missense_Mutation	SNP	19 : 12576048 - 12576048 T PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	812	145
ZNF790	388536	broad.mit.edu	37	19	37310991	37310991	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:37310991C>A	ENST00000356725.4	-	5	375	c.255G>T	c.(253-255)aaG>aaT	p.K85N	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTAATAACTTCTTGGTCTGAC	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	51	51			NA	NA	19		NA											NA				37310991		2203	4300	6503	SO:0001583	missense			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863	388536	388536		Zinc fingers, C2H2-type, -	33114	protein-coding gene	gene with protein product					NA		Standard	NM_206894	NM_206894	NA	Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.255G>T	19.37:g.37310991C>A	ENSP00000349161:p.Lys85Asn	NA		37	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	C	8.442	0.851037	0.17034	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288	T;T;T	0.07327	3.2;6.04;5.63	3.08	3.08	0.35506	.	.	.	.	.	T	0.09862	0.0242	L	0.50333	1.59	0.09310	N	1	P	0.41313	0.745	B	0.41202	0.35	T	0.16482	-1.0401	9	0.52906	T	0.07	.	7.5937	0.28035	0.2541:0.7459:0.0:0.0	.	85	Q6PG37	ZN790_HUMAN	N	85	ENSP00000349161:K85N;ENSP00000435944:K85N;ENSP00000433389:K85N	ENSP00000349161:K85N	K	-	3	2	ZNF790	42002831	0.000000	0.05858	0.115000	0.21578	0.254000	0.26022	0.138000	0.16016	1.708000	0.51301	0.484000	0.47621	AAG	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385341.2		-	ENST00000356725.4	Missense_Mutation	SNP	19 : 37310991 - 37310991 A PAAD-TCGA-2L-AAQL-Tumor-SM-5W7V5	354	11
