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
ABCA10	10349	broad.mit.edu	37	17	67187404	67187404	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:67187404G>T	ENST00000269081.4	-	18	2833	c.1924C>A	c.(1924-1926)Cag>Aag	p.Q642K	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	642					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GGAATGTGCTGCTTAATAAGG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	140	144			NA	NA	17		NA											NA				67187404		2202	4299	6501	SO:0001583	missense			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263	10349	10349		ATP binding cassette transporters / subfamily A	30	protein-coding gene	gene with protein product		612508			NA	12821155, 11435397	Standard	NM_080282	NM_080282	NA	Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1924C>A	17.37:g.67187404G>T	ENSP00000269081:p.Gln642Lys	NA	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	g	10.73	1.433378	0.25813	.	.	ENSG00000154263	ENST00000269081	T	0.81415	-1.49	2.99	2.99	0.34606	.	0.286451	0.18456	U	0.140682	T	0.69124	0.3076	L	0.27944	0.81	0.80722	D	1	B;B	0.16396	0.01;0.017	B;B	0.18561	0.015;0.022	T	0.66779	-0.5837	10	0.42905	T	0.14	.	12.0772	0.53652	0.0:0.1744:0.8256:0.0	.	642;642	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	K	642	ENSP00000269081:Q642K	ENSP00000269081:Q642K	Q	-	1	0	ABCA10	64698999	0.991000	0.36638	0.091000	0.20842	0.023000	0.10783	3.788000	0.55446	1.664000	0.50801	0.563000	0.77884	CAG	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379881.4		-	ENST00000269081.4	Missense_Mutation	SNP	17 : 67187404 - 67187404 T PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	128	4
AGAP1	116987	broad.mit.edu	37	2	236957825	236957825	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:236957825G>A	ENST00000304032.8	+	16	2594	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	AGAP1_ENST00000428334.2_Missense_Mutation_p.E511K|AGAP1_ENST00000336665.5_Missense_Mutation_p.E619K|AGAP1_ENST00000409538.1_Missense_Mutation_p.E884K	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	NA	Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTGGCCAGTCGAGCTCATCAA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	106	109			NA	NA	2		NA											NA				236957825		2203	4300	6503	SO:0001583	missense			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985	116987	116987		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	16922	protein-coding gene	gene with protein product		608651	centaurin, gamma 2	CENTG2	NA		Standard	NM_014914	NM_001037131	NA	Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.2014G>A	2.37:g.236957825G>A	ENSP00000307634:p.Glu672Lys	NA	B2RTX7|Q541S5|Q6P9D7|Q9NV93	37	CCDS33408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.882175|5.882175	0.97062|0.97062	.|.	.|.	ENSG00000157985|ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334|ENST00000418654;ENST00000453371	T;T;T;T|.	0.45668|.	0.89;0.89;0.89;0.89|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81772|0.81772	0.4893|0.4893	M|M	0.81239|0.81239	2.535|2.535	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.80764|.	0.992;0.994|.	T|T	0.82232|0.82232	-0.0559|-0.0559	10|5	0.56958|.	D|.	0.05|.	.|.	19.3968|19.3968	0.94610|0.94610	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	619;672|.	Q9UPQ3-2;Q9UPQ3|.	.;AGAP1_HUMAN|.	K|Q	672;619;884;511|224;73	ENSP00000307634:E672K;ENSP00000338378:E619K;ENSP00000386897:E884K;ENSP00000411824:E511K|.	ENSP00000307634:E672K|.	E|R	+|+	1|2	0|0	AGAP1|AGAP1	236622564|236622564	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.981000|0.981000	0.71138|0.71138	9.722000|9.722000	0.98770|0.98770	2.565000|2.565000	0.86533|0.86533	0.655000|0.655000	0.94253|0.94253	GAG|CGA	AGAP1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257076.2		+	ENST00000304032.8	Missense_Mutation	SNP	2 : 236957825 - 236957825 A PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	694	11
ARHGEF7	8874	broad.mit.edu	37	13	111870079	111870079	+	Silent	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:111870079C>T	ENST00000218789.5	+	4	548	c.51C>T	c.(49-51)ttC>ttT	p.F17F	ARHGEF7_ENST00000426073.2_Silent_p.F17F|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000375723.1_Silent_p.F17F|ARHGEF7_ENST00000375736.4_Silent_p.F17F|ARHGEF7_ENST00000375741.2_Silent_p.F195F|ARHGEF7_ENST00000375737.5_Silent_p.F92F|ARHGEF7_ENST00000370623.3_Silent_p.F102F|ARHGEF7_ENST00000317133.5_Silent_p.F174F|ARHGEF7_ENST00000375739.2_Silent_p.F145F			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	195	CH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGTTTAACTTCCAGCAGACCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	128	132			NA	NA	13		NA											NA				111870079		2203	4300	6503	SO:0001819	synonymous_variant			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606	8874	8874		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	15607	protein-coding gene	gene with protein product	SH3 domain-containing proline-rich protein, PAK-interacting exchange factor beta, rho, guanine nucleotide exchange factor 7	605477			NA	9207241, 9726964	Standard	NM_001113511	NM_003899	NA	Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000218789.5:c.51C>T	13.37:g.111870079C>T		NA	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	37																																																																																				ARHGEF7-001	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000045805.3		+	ENST00000218789.5	Silent	SNP	13 : 111870079 - 111870079 T PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	571	16
CBS	875	broad.mit.edu	37	21	44479374	44479374	+	Silent	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr21:44479374G>A	ENST00000398165.3	-	13	1444	c.1185C>T	c.(1183-1185)ggC>ggT	p.G395G	CBS_ENST00000352178.5_Silent_p.G395G|CBS_ENST00000359624.3_Silent_p.G395G|CBS_ENST00000544202.1_Silent_p.G307G|CBS_ENST00000398158.1_Silent_p.G395G|CBS_ENST00000398168.1_Silent_p.G395G	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	395					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CCTTCAGAAAGCCCTTCTGCA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	72	72			NA	NA	21		NA											NA				44479374		2203	4300	6503	SO:0001819	synonymous_variant			L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	875	875	4.2.1.22		1550	protein-coding gene	gene with protein product		613381			NA	9790750	Standard	NM_000071	NM_000071	NA	Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.1185C>T	21.37:g.44479374G>A		NA	B2R993|D3DSK4|Q99425|Q9BWC5	37	CCDS13693.1	.	.	.	.	.	.	.	.	.	.	G	6.771	0.511235	0.12883	.	.	ENSG00000160200	ENST00000430013	.	.	.	4.63	2.54	0.30619	.	.	.	.	.	T	0.44329	0.1288	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	4	.	.	.	-36.0301	2.2239	0.03979	0.108:0.212:0.462:0.2179	.	.	.	.	V	49	.	.	A	-	2	0	CBS	43352443	0.981000	0.34729	1.000000	0.80357	0.499000	0.33736	0.337000	0.19841	0.911000	0.36747	0.563000	0.77884	GCT	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195525.1		-	ENST00000398165.3	Silent	SNP	21 : 44479374 - 44479374 A PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	612	17
COL5A2	1290	broad.mit.edu	37	2	189927907	189927907	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:189927907T>A	ENST00000374866.3	-	27	2134	c.1860A>T	c.(1858-1860)aaA>aaT	p.K620N		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	620					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CACTGCTACCTTTGGGGCCTG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	101	97			NA	NA	2		NA											NA				189927907		2203	4300	6503	SO:0001583	missense			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262	1290	1290		Collagens	2210	protein-coding gene	gene with protein product	AB collagen	120190			NA	1572660	Standard	NM_000393	NM_000393	NA	Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1860A>T	2.37:g.189927907T>A	ENSP00000364000:p.Lys620Asn	NA	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.330784	0.60853	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.94184	-3.37	4.57	3.4	0.38934	.	0.000000	0.50627	D	0.000104	D	0.95686	0.8597	M	0.80616	2.505	0.58432	D	0.999999	D;D	0.71674	0.998;0.974	D;P	0.73708	0.981;0.831	D	0.94257	0.7499	9	.	.	.	.	8.2608	0.31783	0.0:0.181:0.0:0.819	.	260;620	Q5PR22;P05997	.;CO5A2_HUMAN	N	620;260	ENSP00000364000:K620N	.	K	-	3	2	COL5A2	189636152	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.183000	0.32041	0.711000	0.32018	0.383000	0.25322	AAA	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313523.1		-	ENST00000374866.3	Missense_Mutation	SNP	2 : 189927907 - 189927907 A PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	977	26
COLQ	8292	broad.mit.edu	37	3	15495398	15495398	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:15495398C>A	ENST00000383788.5	-	16	1361	c.1236G>T	c.(1234-1236)gaG>gaT	p.E412D	COLQ_ENST00000435459.2_Missense_Mutation_p.E402D|COLQ_ENST00000603808.1_Missense_Mutation_p.E413D|COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000383786.5_Missense_Mutation_p.E378D|COLQ_ENST00000383781.4_Missense_Mutation_p.E402D|COLQ_ENST00000383787.2_Missense_Mutation_p.E403D	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	412					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CCTCCACACCCTCATGCCGGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	135	147			NA	NA	3		NA											NA				15495398		2203	4300	6503	SO:0001583	missense			AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561	8292	8292			2226	protein-coding gene	gene with protein product	single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase, collagenic tail of endplate acetylcholinesterase, AChE Q subunit, acetylcholinesterase-associated collagen	603033			NA	9689136	Standard	NM_005677	NM_005677	NA	Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.1236G>T	3.37:g.15495398C>A	ENSP00000373298:p.Glu412Asp	NA	B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	37	CCDS33709.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563678	0.27915	.	.	ENSG00000206561	ENST00000383787;ENST00000383781;ENST00000435459;ENST00000383788;ENST00000420589;ENST00000454772;ENST00000383786	D;D;D;D;D	0.91295	-2.64;-2.82;-2.77;-2.77;-2.79	5.3	2.12	0.27331	.	0.637835	0.16393	N	0.216367	D	0.87767	0.6260	L	0.48642	1.525	0.80722	D	1	P;B;P;P	0.44044	0.683;0.024;0.555;0.825	B;B;B;P	0.46026	0.212;0.033;0.17;0.501	D	0.84958	0.0875	10	0.72032	D	0.01	0.0611	7.265	0.26224	0.0:0.5012:0.0:0.4988	.	378;403;412;402	Q9Y215-3;Q9Y215-5;Q9Y215;Q9Y215-2	.;.;COLQ_HUMAN;.	D	403;402;402;412;402;413;378	ENSP00000373297:E403D;ENSP00000373291:E402D;ENSP00000402511:E402D;ENSP00000373298:E412D;ENSP00000373296:E378D	ENSP00000373291:E402D	E	-	3	2	COLQ	15470402	0.005000	0.15991	0.679000	0.29978	0.987000	0.75469	-0.179000	0.09768	0.637000	0.30526	-0.369000	0.07265	GAG	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343575.1		-	ENST00000383788.5	Missense_Mutation	SNP	3 : 15495398 - 15495398 A PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	156	4
DMBT1	1755	broad.mit.edu	37	10	124399679	124399679	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:124399679G>A	ENST00000338354.3	+	52	6785	c.6679G>A	c.(6679-6681)Gac>Aac	p.D2227N	DMBT1_ENST00000368909.3_Missense_Mutation_p.D2227N|DMBT1_ENST00000359586.6_Missense_Mutation_p.D947N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D2217N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1599N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D2217N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1599N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2227	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACCTGGGTCGACACCATGTA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(182;93 2026 18125 22222 38972)							NA				0								G	ASN/ASP,ASN/ASP,ASN/ASP	0,4252		0,0,2126	235	222	226		4795,6679,6649	-11.1	0	10		226	2,8494		0,2,4246	no	missense,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	23,23,23	0,2,6372	AA,AG,GG	NA	0.0235,0.0,0.0157	benign,benign,benign	1599/1786,2227/2414,2217/2404	124399679	2,12746	2126	4248	6374	SO:0001583	missense				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908	1755	1755			2926	protein-coding gene	gene with protein product		601969			NA	9288095, 17548659	Standard	NM_004406	NM_004406	NA	Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6679G>A	10.37:g.124399679G>A	ENSP00000342210:p.Asp2227Asn	NA	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	37		.	.	.	.	.	.	.	.	.	.	G	10.08	1.252436	0.22880	0.0	2.35E-4	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.53	-11.1	0.00147	Zona pellucida sperm-binding protein (3);	2.913890	0.01909	N	0.039733	T	0.58637	0.2136	N	0.10809	0.05	0.09310	N	1	B;B;B;B;B;B;B	0.24963	0.001;0.115;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B	0.09377	0.001;0.004;0.0;0.0;0.0;0.0;0.001	T	0.53655	-0.8408	10	0.08599	T	0.76	.	15.5153	0.75818	0.1221:0.2851:0.5928:0.0	.	947;2207;1476;2356;1599;2217;2227	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	N	2227;2356;2227;2227;2227;2226;1599;2217;1599;1599;2227;2217;1599;373;947	ENSP00000342210:D2227N;ENSP00000343175:D2217N;ENSP00000327747:D1599N;ENSP00000357905:D2227N;ENSP00000357951:D2217N;ENSP00000357952:D1599N;ENSP00000352593:D947N	ENSP00000331522:D1599N	D	+	1	0	DMBT1	124389669	0.000000	0.05858	0.000000	0.03702	0.731000	0.41821	-0.417000	0.07088	-2.593000	0.00455	-1.004000	0.02495	GAC	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000050792.2		+	ENST00000338354.3	Missense_Mutation	SNP	10 : 124399679 - 124399679 A PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	813	17
DOCK2	1794	broad.mit.edu	37	5	169098083	169098083	+	Splice_Site	SNP	A	A	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:169098083A>T	ENST00000256935.8	+	5	306	c.226A>T	c.(226-228)Aat>Tat	p.N76Y		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	76					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTAAATAGAAATACTGAGAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	67	69			NA	NA	5		NA											NA				169098083		2203	4300	6503	SO:0001630	splice_region_variant			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516	1794	1794			2988	protein-coding gene	gene with protein product		603122	dedicator of cyto-kinesis 2		NA		Standard	NM_004946	NM_004946	NA	Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.225-1A>T	5.37:g.169098083A>T		NA	Q2M3I0|Q96AK7	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.986874	0.35036	.	.	ENSG00000134516	ENST00000256935	T	0.50001	0.76	5.67	5.67	0.87782	.	0.145914	0.64402	D	0.000012	T	0.30008	0.0751	N	0.22421	0.69	0.80722	D	1	P	0.45902	0.868	B	0.34038	0.174	T	0.13845	-1.0494	10	0.41790	T	0.15	.	12.6492	0.56751	0.8529:0.1471:0.0:0.0	.	76	Q92608	DOCK2_HUMAN	Y	76	ENSP00000256935:N76Y	ENSP00000256935:N76Y	N	+	1	0	DOCK2	169030661	1.000000	0.71417	0.979000	0.43373	0.981000	0.71138	3.543000	0.53633	2.158000	0.67659	0.460000	0.39030	AAT	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252828.2	Missense_Mutation	+	ENST00000256935.8	Splice_Site	SNP	5 : 169098083 - 169098083 T PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	271	6
DROSHA	29102	broad.mit.edu	37	5	31526591	31526591	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:31526591G>A	ENST00000511367.2	-	4	693	c.449C>T	c.(448-450)tCc>tTc	p.S150F	DROSHA_ENST00000513349.1_Missense_Mutation_p.S150F|DROSHA_ENST00000442743.1_Missense_Mutation_p.S150F|DROSHA_ENST00000344624.3_Missense_Mutation_p.S150F	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	150	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						ATGAGGCATGGAGGGAGGGGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	20	19			NA	NA	5		NA											NA				31526591		1886	4105	5991	SO:0001583	missense			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	29102	29102	3.1.26.3		17904	protein-coding gene	gene with protein product	drosha, ribonuclease type III, drosha, double-stranded RNA-specific endoribonuclease	608828	ribonuclease type III, nuclear	RNASEN	NA	10713462, 10948199	Standard	NM_013235	NM_013235	NA	Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.449C>T	5.37:g.31526591G>A	ENSP00000425979:p.Ser150Phe	NA	Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832994	0.32421	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000507438	T;T;T;T;T	0.48522	1.4;1.4;0.83;0.83;0.81	5.12	5.12	0.69794	.	0.382752	0.27691	N	0.018257	T	0.39682	0.1087	N	0.14661	0.345	0.27987	N	0.935818	P;P;P	0.43094	0.799;0.553;0.553	P;B;B	0.44990	0.466;0.205;0.205	T	0.41805	-0.9488	10	0.62326	D	0.03	-17.0111	16.7608	0.85511	0.0:0.0:1.0:0.0	.	150;150;150	Q9NRR4-2;E7EMP9;Q9NRR4	.;.;RNC_HUMAN	F	150;150;150;150;143;143;150	ENSP00000425979:S150F;ENSP00000339845:S150F;ENSP00000409335:S150F;ENSP00000424161:S150F;ENSP00000430921:S150F	ENSP00000265075:S143F	S	-	2	0	DROSHA	31562348	0.998000	0.40836	0.835000	0.33067	0.747000	0.42532	5.275000	0.65575	2.366000	0.80165	0.655000	0.94253	TCC	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366561.3		-	ENST00000511367.2	Missense_Mutation	SNP	5 : 31526591 - 31526591 A PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	182	8
FAM19A5	25817	broad.mit.edu	37	22	49042501	49042501	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr22:49042501G>A	ENST00000358295.5	+	2	359	c.184G>A	c.(184-186)Gcg>Acg	p.A62T	FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000402357.1_Missense_Mutation_p.A69T	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	69						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		CGCCCGCTGTGCGTGTAGAAA	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	25	23			NA	NA	22		NA											NA				49042501		2043	4173	6216	SO:0001583	missense			AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438	25817	25817			21592	protein-coding gene	gene with protein product					NA	15028294	Standard	NM_015381	NM_015381	NA	Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000358295.5:c.184G>A	22.37:g.49042501G>A	ENSP00000351043:p.Ala62Thr	NA	A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	37	CCDS46729.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446877	0.84101	.	.	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.75474	0.3854	M	0.62723	1.935	0.80722	D	1	D;D	0.62365	0.975;0.991	P;P	0.62382	0.591;0.901	T	0.78409	-0.2215	8	0.87932	D	0	.	17.3357	0.87280	0.0:0.0:1.0:0.0	.	62;69	Q7Z5A7-2;Q7Z5A7	.;F19A5_HUMAN	T	69;69;62	.	ENSP00000336812:A69T	A	+	1	0	FAM19A5	47428937	1.000000	0.71417	0.125000	0.21846	0.391000	0.30476	8.827000	0.92041	2.417000	0.82017	0.655000	0.94253	GCG	FAM19A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317502.1		+	ENST00000358295.5	Missense_Mutation	SNP	22 : 49042501 - 49042501 A PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	177	6
FFAR3	2865	broad.mit.edu	37	19	35850606	35850606	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:35850606G>A	ENST00000327809.4	+	2	1015	c.814G>A	c.(814-816)Gac>Aac	p.D272N	FFAR3_ENST00000594310.1_Missense_Mutation_p.D272N	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	272						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTCCTGTGTCGACCCCTTTGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(185;1742 2042 21963 24215 27871)							NA				0								G	ASN/ASP	0,4402		0,0,2201	173	126	142		814	5.1	0.9	19		142	1,8591	1.2+/-3.3	0,1,4295	no	missense	FFAR3	NM_005304.3	23	0,1,6496	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	272/347	35850606	1,12993	2201	4296	6497	SO:0001583	missense			AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897	2865	2865		GPCR / Class A : Fatty acid receptors	4499	protein-coding gene	gene with protein product		603821	G protein-coupled receptor 41	GPR41	NA	9344866, 22493486	Standard	NM_005304	NM_005304	NA	Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.814G>A	19.37:g.35850606G>A	ENSP00000328230:p.Asp272Asn	NA	B2RWM8|Q14CM7	37	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111399	0.56398	0.0	1.16E-4	ENSG00000185897	ENST00000327809	T	0.53857	0.6	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	T	0.65606	0.2707	L	0.51422	1.61	0.43122	D	0.994846	D	0.89917	1.0	D	0.91635	0.999	T	0.60352	-0.7280	10	0.20519	T	0.43	-29.2285	16.0595	0.80830	0.0:0.0:1.0:0.0	.	272	O14843	FFAR3_HUMAN	N	272	ENSP00000328230:D272N	ENSP00000328230:D272N	D	+	1	0	FFAR3	40542446	1.000000	0.71417	0.937000	0.37676	0.153000	0.21895	6.728000	0.74769	2.385000	0.81259	0.455000	0.32223	GAC	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418873.2		+	ENST00000327809.4	Missense_Mutation	SNP	19 : 35850606 - 35850606 A PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	1537	21
HERC2	8924	broad.mit.edu	37	15	28413594	28413594	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:28413594C>T	ENST00000261609.7	-	67	10480	c.10372G>A	c.(10372-10374)Gaa>Aaa	p.E3458K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3458					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGTCTGTCTTCGATATCAACA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	159	149	153		10372	5.2	0.9	15		153	0,8600		0,0,4300	no	missense	HERC2	NM_004667.4	56	0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154	probably-damaging	3458/4835	28413594	2,13004	2203	4300	6503	SO:0001583	missense			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	8924	8924			4868	protein-coding gene	gene with protein product		605837	hect domain and RLD 2		NA	9949213	Standard	NM_004667	NM_004667	NA	Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10372G>A	15.37:g.28413594C>T	ENSP00000261609:p.Glu3458Lys	NA	Q86SV7|Q86SV8|Q86SV9|Q86YY3|Q86YY4|Q86YY5|Q86YY6|Q86YY7|Q86YY8|Q86YY9|Q86YZ0|Q86YZ1	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016642	0.75161	4.54E-4	0.0	ENSG00000128731	ENST00000261609	T	0.37752	1.18	5.25	5.25	0.73442	.	0.049842	0.85682	D	0.000000	T	0.30448	0.0765	L	0.52364	1.645	0.80722	D	1	D	0.53619	0.961	B	0.36922	0.236	T	0.18147	-1.0346	10	0.10377	T	0.69	.	19.2064	0.93732	0.0:1.0:0.0:0.0	.	3458	O95714	HERC2_HUMAN	K	3458	ENSP00000261609:E3458K	ENSP00000261609:E3458K	E	-	1	0	HERC2	26087189	1.000000	0.71417	0.899000	0.35326	0.042000	0.13812	7.772000	0.85439	2.606000	0.88127	0.491000	0.48974	GAA	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251358.2		-	ENST00000261609.7	Missense_Mutation	SNP	15 : 28413594 - 28413594 T PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	976	15
KCNA1	3736	broad.mit.edu	37	12	5021748	5021748	+	Silent	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:5021748C>T	ENST00000382545.3	+	2	2311	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	402					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AACAATTGCCCTGCCCGTACC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													326	313	317			NA	NA	12		NA											NA				5021748		2203	4300	6503	SO:0001819	synonymous_variant			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262	3736	3736		Potassium channels, Voltage-gated ion channels / Potassium channels	6218	protein-coding gene	gene with protein product		176260		AEMK	NA	1349297, 8821794, 16382104	Standard	NM_000217	NM_000217	NA	Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1204C>T	12.37:g.5021748C>T		NA	A6NM83|Q3MIQ9	37	CCDS8535.1																																																																																			KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103343.2		+	ENST00000382545.3	Silent	SNP	12 : 5021748 - 5021748 T PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	3061	159
KCNA10	3744	broad.mit.edu	37	1	111060380	111060380	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:111060380G>A	ENST00000369771.2	-	1	1417	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	344						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.R344C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTCACCAGGCGGATGATCCTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)						G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	135	128	131		1030	5.6	1	1		131	0,8600		0,0,4300	no	missense	KCNA10	NM_005549.2	180	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	344/512	111060380	1,13005	2203	4300	6503	SO:0001583	missense			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105	3744	3744		Potassium channels, Voltage-gated ion channels / Potassium channels	6219	protein-coding gene	gene with protein product		602420			NA	16382104	Standard	NM_005549	NM_005549	NA	Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1030C>T	1.37:g.111060380G>A	ENSP00000358786:p.Arg344Cys	NA		37	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215244	0.79352	2.27E-4	0.0	ENSG00000143105	ENST00000369771	D	0.99259	-5.64	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	H	0.99900	4.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96505	0.9374	10	0.87932	D	0	.	18.3064	0.90184	0.0:0.0:1.0:0.0	.	344	Q16322	KCA10_HUMAN	C	344	ENSP00000358786:R344C	ENSP00000358786:R344C	R	-	1	0	KCNA10	110861903	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.505000	0.73708	2.676000	0.91093	0.558000	0.71614	CGC	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059081.1		-	ENST00000369771.2	Missense_Mutation	SNP	1 : 111060380 - 111060380 A PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	1067	16
KCNV1	27012	broad.mit.edu	37	8	110984838	110984838	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:110984838C>T	ENST00000524391.1	-	3	1672	c.640G>A	c.(640-642)Gtc>Atc	p.V214I	KCNV1_ENST00000297404.1_Missense_Mutation_p.V214I			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	214						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.V214I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATGGAGATGACGCCAAAGATA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											92	84	87			NA	NA	8		NA											NA				110984838		2203	4300	6503	SO:0001583	missense			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794	27012	27012		Potassium channels, Voltage-gated ion channels / Potassium channels	18861	protein-coding gene	gene with protein product		608164			NA	8670833, 16382104	Standard	NM_014379	NM_014379	NA	Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.640G>A	8.37:g.110984838C>T	ENSP00000435954:p.Val214Ile	NA	Q9UHJ4	37	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	C	0.164	-1.078020	0.01903	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97328	-4.34;-4.34	5.35	4.35	0.52113	.	0.306903	0.28109	N	0.016564	D	0.88566	0.6471	N	0.12569	0.235	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.75539	-0.3282	10	0.02654	T	1	.	3.8825	0.09083	0.0:0.6825:0.0:0.3175	.	214	Q6PIU1	KCNV1_HUMAN	I	214;214;90	ENSP00000435954:V214I;ENSP00000297404:V214I	ENSP00000297404:V214I	V	-	1	0	KCNV1	111054014	0.994000	0.37717	0.994000	0.49952	0.610000	0.37248	2.694000	0.47035	2.499000	0.84300	0.557000	0.71058	GTC	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385525.1		-	ENST00000524391.1	Missense_Mutation	SNP	8 : 110984838 - 110984838 T PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	350	10
KIAA1045	23349	broad.mit.edu	37	9	34976561	34976561	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:34976561C>T	ENST00000242315.3	+	5	755	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R225C	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	225							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GGACTTTCTGCGTTACCGCCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	0,4220		0,0,2110	34	41	39		673	4.9	1	9		39	1,8445		0,1,4222	no	missense	KIAA1045	NM_015297.1	180	0,1,6332	TT,TC,CC	NA	0.0118,0.0,0.0079	probably-damaging	225/401	34976561	1,12665	2110	4223	6333	SO:0001583	missense			AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733	23349	23349			29180	protein-coding gene	gene with protein product					NA	10470851	Standard	XM_048592	NM_015297	NA	Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.673C>T	9.37:g.34976561C>T	ENSP00000242315:p.Arg225Cys	NA	B7Z253|Q58FE9|Q5T662	37	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906243	0.92107	0.0	1.18E-4	ENSG00000122733	ENST00000544237;ENST00000242315	T;T	0.21932	1.98;1.98	4.92	4.92	0.64577	EF-hand-like domain (1);	0.137454	0.51477	D	0.000087	T	0.27278	0.0669	N	0.24115	0.695	0.54753	D	0.999985	D	0.76494	0.999	P	0.56700	0.804	T	0.03829	-1.1000	10	0.66056	D	0.02	.	15.2674	0.73672	0.0:1.0:0.0:0.0	.	225	Q9UPV7	K1045_HUMAN	C	225	ENSP00000444138:R225C;ENSP00000242315:R225C	ENSP00000242315:R225C	R	+	1	0	KIAA1045	34966561	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.116000	0.57871	2.282000	0.76494	0.561000	0.74099	CGT	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052256.2		+	ENST00000242315.3	Missense_Mutation	SNP	9 : 34976561 - 34976561 T PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	544	28
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	179	13
LEPR	3953	broad.mit.edu	37	1	66036155	66036155	+	Splice_Site	SNP	G	G	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:66036155G>T	ENST00000349533.6	+	4	225		c.e4-1		LEPR_ENST00000462765.1_Splice_Site|LEPR_ENST00000371059.3_Splice_Site|LEPR_ENST00000371060.3_Splice_Site|LEPR_ENST00000406510.3_Splice_Site|LEPR_ENST00000344610.8_Splice_Site|LEPR_ENST00000371058.1_Splice_Site	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	NA					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	p.?(2)		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)		TATCCTAACAGAATTTATTTA	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Unknown(2)	large_intestine(2)											42	44	44			NA	NA	1		NA											NA				66036155		2194	4298	6492	SO:0001630	splice_region_variant			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.41-1G>T	1.37:g.66036155G>T		NA	Q13592|Q13593|Q13594|Q92919|Q92920|Q92921	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	9.738	1.163980	0.21538	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0325	0.71720	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LEPR	65808743	1.000000	0.71417	0.995000	0.50966	0.077000	0.17291	5.008000	0.63991	2.619000	0.88677	0.460000	0.39030	.	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025275.1	Intron	+	ENST00000349533.6	Splice_Site	SNP	1 : 66036155 - 66036155 T PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	156	5
LPPR4	0	broad.mit.edu	37	1	99772446	99772446	+	Silent	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:99772446C>T	ENST00000370185.3	+	7	2669	c.2172C>T	c.(2170-2172)cgC>cgT	p.R724R	LPPR4_ENST00000457765.1_Silent_p.R666R|LPPR4_ENST00000370184.1_Silent_p.R566R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		724							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTTCTTCCCGCGACTCCACCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	57	58			NA	NA	1		NA											NA				99772446		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000370185.3:c.2172C>T	1.37:g.99772446C>T		NA	O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	37	CCDS757.1																																																																																			LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029670.2		+	ENST00000370185.3	Silent	SNP	1 : 99772446 - 99772446 T PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	335	19
MADD	8567	broad.mit.edu	37	11	47296667	47296667	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:47296667C>T	ENST00000342922.4	+	3	973	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	MADD_ENST00000402799.1_Missense_Mutation_p.R206C|MADD_ENST00000406482.1_Missense_Mutation_p.R206C|MADD_ENST00000407859.3_Missense_Mutation_p.R206C|MADD_ENST00000395336.3_Missense_Mutation_p.R206C|MADD_ENST00000395344.3_Missense_Mutation_p.R206C|MADD_ENST00000311027.5_Missense_Mutation_p.R206C|MADD_ENST00000349238.3_Missense_Mutation_p.R206C|MADD_ENST00000402192.2_Missense_Mutation_p.R206C	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	206	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTGTAGTGAGCGCCTTCTGGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	80	79			NA	NA	11		NA											NA				47296667		2201	4298	6499	SO:0001583	missense			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514	8567	8567		DENN/MADD domain containing	6766	protein-coding gene	gene with protein product		603584			NA	9115275, 9796103	Standard		NM_130476	NA	Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000342922.4:c.616C>T	11.37:g.47296667C>T	ENSP00000343902:p.Arg206Cys	NA	D3DQR4|O15065|O15293|Q15732|Q15741|Q8IWD7|Q8WXG3|Q8WXG4|Q8WXG5|Q8WZ63	37	CCDS7931.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885704	0.72410	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.07908	3.26;3.15;3.15;3.26;3.27;3.17;3.16;3.26;3.26	5.81	3.84	0.44239	DENN (3);	0.057038	0.64402	D	0.000002	T	0.27731	0.0682	M	0.73598	2.24	0.80722	D	1	D;P;D;D;D;D;D;D;D;D	0.89917	1.0;0.948;1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D;D;D;D	0.91635	0.994;0.791;0.992;0.981;0.981;0.981;0.988;0.999;0.993;0.988	T	0.02661	-1.1127	9	.	.	.	-6.6138	14.1753	0.65537	0.487:0.513:0.0:0.0	.	206;206;206;206;206;206;206;206;206;206	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	C	206	ENSP00000343902:R206C;ENSP00000385585:R206C;ENSP00000384435:R206C;ENSP00000304505:R206C;ENSP00000310933:R206C;ENSP00000384204:R206C;ENSP00000378753:R206C;ENSP00000378745:R206C;ENSP00000384287:R206C	.	R	+	1	0	MADD	47253243	1.000000	0.71417	0.788000	0.31933	0.970000	0.65996	3.083000	0.50136	1.409000	0.46915	0.655000	0.94253	CGC	MADD-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317741.2		+	ENST00000342922.4	Missense_Mutation	SNP	11 : 47296667 - 47296667 T PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	521	13
MYO7B	4648	broad.mit.edu	37	2	128350393	128350393	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:128350393C>T	ENST00000409816.2	+	16	2049	c.2017C>T	c.(2017-2019)Cgg>Tgg	p.R673W	MYO7B_ENST00000428314.1_Missense_Mutation_p.R673W|MYO7B_ENST00000389524.4_Missense_Mutation_p.R673W			Q6PIF6	MYO7B_HUMAN	myosin VIIB	673	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCTGTGCCTGCGGCAGCTGCG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	24	22			NA	NA	2		NA											NA				128350393		2040	4173	6213	SO:0001583	missense				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994	4648	4648		Myosins / Myosin superfamily : Class VII	7607	protein-coding gene	gene with protein product		606541			NA	8022818, 8884266	Standard	XM_291001	NM_001080527	NA	Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2017C>T	2.37:g.128350393C>T	ENSP00000386461:p.Arg673Trp	NA	Q14786|Q8TEE1	37	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086081	0.76642	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	T;T;T	0.72394	-0.65;-0.65;-0.65	4.93	4.04	0.47022	Myosin head, motor domain (2);	0.419727	0.22981	N	0.053306	D	0.84705	0.5531	M	0.91612	3.225	0.40257	D	0.978134	D	0.76494	0.999	D	0.65987	0.94	D	0.86786	0.1982	10	0.87932	D	0	.	9.7827	0.40658	0.1463:0.777:0.0:0.0767	.	673	Q6PIF6	MYO7B_HUMAN	W	673	ENSP00000374175:R673W;ENSP00000415090:R673W;ENSP00000386461:R673W	ENSP00000374175:R673W	R	+	1	2	MYO7B	128066863	0.096000	0.21769	0.486000	0.27416	0.986000	0.74619	2.109000	0.41863	1.198000	0.43158	0.655000	0.94253	CGG	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331124.3		+	ENST00000409816.2	Missense_Mutation	SNP	2 : 128350393 - 128350393 T PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	129	5
NALCN	259232	broad.mit.edu	37	13	102047562	102047562	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:102047562G>A	ENST00000251127.6	-	3	344	c.263C>T	c.(262-264)gCa>gTa	p.A88V	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.A88V|NALCN_ENST00000376200.5_Missense_Mutation_p.A88V	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	88						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGCATTTTTGCTATCATCTC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	90	97			NA	NA	13		NA											NA				102047562		2203	4300	6503	SO:0001583	missense			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452	259232	259232		Ion channels / Sodium leak channels, non-selective	19082	protein-coding gene	gene with protein product		611549	voltage gated channel like 1	VGCNL1	NA	17448995	Standard	NM_052867	XM_006719943	NA	Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.263C>T	13.37:g.102047562G>A	ENSP00000251127:p.Ala88Val	NA	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972746	0.34848	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98105	-4.72;-4.72;-4.72	5.59	5.59	0.84812	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.92861	0.7729	N	0.08118	0	0.80722	D	1	B;B	0.32526	0.374;0.328	B;B	0.35039	0.194;0.194	D	0.91202	0.4992	10	0.02654	T	1	.	19.5954	0.95535	0.0:0.0:1.0:0.0	.	88;88	F2Z323;Q8IZF0	.;NALCN_HUMAN	V	88	ENSP00000251127:A88V;ENSP00000365367:A88V;ENSP00000365373:A88V	ENSP00000251127:A88V	A	-	2	0	NALCN	100845563	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.635000	0.89317	0.563000	0.77884	GCA	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045663.2		-	ENST00000251127.6	Missense_Mutation	SNP	13 : 102047562 - 102047562 A PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	383	7
NOL4	8715	broad.mit.edu	37	18	31538336	31538336	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr18:31538336C>G	ENST00000535384.1	-	3	486	c.248G>C	c.(247-249)aGt>aCt	p.S83T	NOL4_ENST00000269185.4_Missense_Mutation_p.S254T|NOL4_ENST00000261592.5_Missense_Mutation_p.S368T|NOL4_ENST00000535475.1_Missense_Mutation_p.S213T|NOL4_ENST00000538587.1_Missense_Mutation_p.S294T|NOL4_ENST00000589544.1_Missense_Mutation_p.S368T	NM_001198549.1	NP_001185478.1	O94818	NOL4_HUMAN	nucleolar protein 4	368						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCGGTCTACACTCTCATTTTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													229	204	212			NA	NA	18		NA											NA				31538336		2203	4300	6503	SO:0001583	missense			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746	8715	8715			7870	protein-coding gene	gene with protein product	cancer/testis antigen 125	603577			NA	9813152	Standard	NM_003787	NM_003787	NA	Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000535384.1:c.248G>C	18.37:g.31538336C>G	ENSP00000445733:p.Ser83Thr	NA	Q6IBS2|Q9BWF1	37	CCDS56058.1	.	.	.	.	.	.	.	.	.	.	C	9.460	1.092768	0.20471	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	D;D;T;D;T	0.84442	-1.85;-1.85;-1.29;-1.85;-1.29	5.64	5.64	0.86602	.	0.188941	0.47093	D	0.000242	D	0.83792	0.5331	L	0.40543	1.245	0.41127	D	0.985853	P;B;B;B;B;B;B;B	0.41450	0.75;0.449;0.066;0.136;0.449;0.066;0.017;0.136	B;B;B;B;B;B;B;B	0.42827	0.399;0.215;0.061;0.143;0.143;0.061;0.043;0.061	D	0.84778	0.0771	10	0.54805	T	0.06	-5.3095	19.7023	0.96060	0.0:1.0:0.0:0.0	.	254;117;83;294;368;83;368;213	B4DLW2;F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;.;.;NOL4_HUMAN;.;.;.	T	368;254;117;83;213;294	ENSP00000261592:S368T;ENSP00000269185:S254T;ENSP00000445733:S83T;ENSP00000438190:S213T;ENSP00000443472:S294T	ENSP00000261592:S368T	S	-	2	0	NOL4	29792334	1.000000	0.71417	0.971000	0.41717	0.099000	0.18886	5.673000	0.68109	2.639000	0.89480	0.557000	0.71058	AGT	NOL4-006	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442111.1		-	ENST00000535384.1	Missense_Mutation	SNP	18 : 31538336 - 31538336 G PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	848	25
PBXIP1	57326	broad.mit.edu	37	1	154920764	154920764	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:154920764C>T	ENST00000368463.3	-	6	559	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R134Q|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R8Q|PBXIP1_ENST00000368460.3_Missense_Mutation_p.R163Q|PBXIP1_ENST00000498553.1_5'UTR	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	163	Poly-Arg.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCCGGCCCCGCCGTCTCCG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	19	19			NA	NA	1		NA											NA				154920764		2200	4297	6497	SO:0001583	missense			AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346	57326	57326			21199	protein-coding gene	gene with protein product			pre-B-cell leukemia transcription factor interacting protein 1		NA	7505766, 10825160	Standard	NM_020524	NM_020524	NA	Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.488G>A	1.37:g.154920764C>T	ENSP00000357448:p.Arg163Gln	NA	Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	37	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305987	0.40795	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000542459;ENST00000368460	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	4.64	3.73	0.42828	.	0.381252	0.23284	N	0.049879	T	0.07098	0.0180	M	0.65975	2.015	0.25005	N	0.991446	B	0.27498	0.18	B	0.17722	0.019	T	0.18241	-1.0343	10	0.66056	D	0.02	-7.6894	6.8497	0.24008	0.0:0.7955:0.0:0.2045	.	163	Q96AQ6	PBIP1_HUMAN	Q	134;163;163;8;163	ENSP00000357450:R134Q;ENSP00000357448:R163Q;ENSP00000438584:R8Q;ENSP00000357445:R163Q	ENSP00000295523:R163Q	R	-	2	0	PBXIP1	153187388	0.841000	0.29509	0.988000	0.46212	0.773000	0.43773	2.101000	0.41787	1.163000	0.42636	0.563000	0.77884	CGG	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090943.1		-	ENST00000368463.3	Missense_Mutation	SNP	1 : 154920764 - 154920764 T PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	100	6
PFKFB1	5207	broad.mit.edu	37	X	54987327	54987327	+	Nonsense_Mutation	SNP	G	G	A	rs147665375		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:54987327G>A	ENST00000375006.3	-	3	317	c.247C>T	c.(247-249)Cga>Tga	p.R83*	PFKFB1_ENST00000545676.1_Nonsense_Mutation_p.R18*|PFKFB1_ENST00000374992.2_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	83	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						ACTGCCTCTCGTCGATACTGG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	stop/ARG	1,3834		0,1,1631,571	112	93	99		247	2.9	1	X	dbSNP_134	99	1,6727		0,1,2427,1872	no	stop-gained	PFKFB1	NM_002625.2		0,2,4058,2443	AA,AG,GG,G	NA	0.0149,0.0261,0.0189		83/472	54987327	2,10561	2203	4300	6503	SO:0001587	stop_gained				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	5207	5207	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX	NA	9119406	Standard		NM_002625	NA	Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.247C>T	X.37:g.54987327G>A	ENSP00000364145:p.Arg83*	NA	B2RA88|Q5JXS5|Q99951	37	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	G	35	5.525944	0.96431	2.61E-4	1.49E-4	ENSG00000158571	ENST00000375006;ENST00000545676	.	.	.	4.89	2.9	0.33743	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2486	12.3398	0.55087	0.0:0.0:0.6625:0.3375	.	.	.	.	X	83;18	.	ENSP00000364145:R83X	R	-	1	2	PFKFB1	55004052	0.984000	0.35163	1.000000	0.80357	0.995000	0.86356	1.625000	0.37029	0.359000	0.24239	0.594000	0.82650	CGA	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056847.1		-	ENST00000375006.3	Nonsense_Mutation	SNP	X : 54987327 - 54987327 A PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	176	6
RECQL5	9400	broad.mit.edu	37	17	73624802	73624802	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:73624802G>A	ENST00000317905.5	-	17	2689	c.2530C>T	c.(2530-2532)Ccc>Tcc	p.P844S	RECQL5_ENST00000423245.2_Missense_Mutation_p.P817S|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	844					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCAGGGGTGGGCTGGACTTCA	0.652		NA						Other identified genes with known or suspected DNA repair function						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	77	75			NA	NA	17		NA											NA				73624802		2031	4188	6219	SO:0001583	missense			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469	9400	9400			9950	protein-coding gene	gene with protein product	RecQ protein 5	603781			NA	9878247	Standard	NM_004259	NM_004259	NA	Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2530C>T	17.37:g.73624802G>A	ENSP00000317636:p.Pro844Ser	NA	Q9H0B1|Q9P1W7|Q9UNC8	37	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285118	0.23478	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T;T	0.59638	0.25;0.43	5.15	4.19	0.49359	.	1.175340	0.06100	N	0.665238	T	0.48786	0.1519	L	0.35723	1.085	0.47153	D	0.999332	B;B;B	0.22909	0.013;0.013;0.077	B;B;B	0.26094	0.003;0.003;0.066	T	0.12630	-1.0540	10	0.07813	T	0.8	-1.086	11.4825	0.50333	0.0879:0.0:0.9121:0.0	.	844;817;40	O94762;Q6P4G0;Q6FIC9	RECQ5_HUMAN;.;.	S	439;844;844	ENSP00000394820:P844S;ENSP00000317636:P844S	ENSP00000317636:P844S	P	-	1	0	RECQL5	71136397	0.049000	0.20398	0.010000	0.14722	0.558000	0.35554	1.541000	0.36126	1.180000	0.42898	0.563000	0.77884	CCC	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448207.1		-	ENST00000317905.5	Missense_Mutation	SNP	17 : 73624802 - 73624802 A PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	447	12
SDE2	163859	broad.mit.edu	37	1	226180632	226180632	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:226180632G>C	ENST00000272091.7	-	3	328	c.310C>G	c.(310-312)Ctc>Gtc	p.L104V		NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)	NA											NA						CTTCCACTGAGATCCCGACAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	86	89			NA	NA	1		NA											NA				226180632		1877	4113	5990	SO:0001583	missense			BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751	163859	163859			26643	protein-coding gene	gene with protein product			chromosome 1 open reading frame 55	C1orf55	NA	21333630	Standard	NM_152608	NM_152608	NA	Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.310C>G	1.37:g.226180632G>C	ENSP00000272091:p.Leu104Val	NA		37	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	G	33	5.244837	0.95272	.	.	ENSG00000143751	ENST00000272091;ENST00000366818	D	0.81499	-1.5	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.92928	0.7750	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93870	0.7161	10	0.87932	D	0	-14.709	20.242	0.98377	0.0:0.0:1.0:0.0	.	92;104	Q6IQ49-2;Q6IQ49	.;CA055_HUMAN	V	104;92	ENSP00000272091:L104V	ENSP00000272091:L104V	L	-	1	0	C1orf55	224247255	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.611000	0.74183	2.788000	0.95919	0.650000	0.86243	CTC	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091310.1		-	ENST00000272091.7	Missense_Mutation	SNP	1 : 226180632 - 226180632 C PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	238	5
SIGLEC1	6614	broad.mit.edu	37	20	3670268	3670268	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:3670268A>G	ENST00000344754.4	-	19	4975	c.4976T>C	c.(4975-4977)cTg>cCg	p.L1659P	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1659P	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1659					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						GCAGGCCCCCAGGCCCAACAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	14	15			NA	NA	20		NA											NA				3670268		2182	4285	6467	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.4976T>C	20.37:g.3670268A>G	ENSP00000341141:p.Leu1659Pro	NA	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670089	0.47677	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.27104	1.72;1.69	5.39	5.39	0.77823	.	0.000000	0.30060	N	0.010502	T	0.37293	0.0998	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.987	T	0.05733	-1.0867	10	0.28530	T	0.3	.	12.0747	0.53636	1.0:0.0:0.0:0.0	.	1659;1659	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	P	1659	ENSP00000341141:L1659P;ENSP00000202578:L1659P	ENSP00000202578:L1659P	L	-	2	0	SIGLEC1	3618268	0.998000	0.40836	1.000000	0.80357	0.103000	0.19146	4.194000	0.58393	2.162000	0.67917	0.533000	0.62120	CTG	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077761.2		-	ENST00000344754.4	Missense_Mutation	SNP	20 : 3670268 - 3670268 G PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	88	5
TAGLN2	8407	broad.mit.edu	37	1	159888604	159888604	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:159888604G>A	ENST00000368097.4	-	5	896	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Missense_Mutation_p.R196C|TAGLN2_ENST00000368096.1_Missense_Mutation_p.R217C	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	196					muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGATCTGGCGTGGCATCCCG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	71	72			NA	NA	1		NA											NA				159888604		2203	4300	6503	SO:0001583	missense			D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710	8407	8407			11554	protein-coding gene	gene with protein product	SM22-alpha homolog	604634			NA	9693045	Standard	NM_003564	NM_001277223	NA	Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.586C>T	1.37:g.159888604G>A	ENSP00000357077:p.Arg196Cys	NA	Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	37	CCDS1189.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724566	0.68959	.	.	ENSG00000158710	ENST00000368097;ENST00000368096;ENST00000320307	D;D;D	0.91631	-2.88;-2.88;-2.88	4.65	2.68	0.31781	Calponin homology domain (1);	0.407364	0.15695	U	0.249233	D	0.92945	0.7755	H	0.97611	4.04	0.58432	D	0.999999	P	0.39060	0.657	B	0.40228	0.323	D	0.92678	0.6156	9	.	.	.	-12.6358	10.6602	0.45698	0.0:0.0:0.4966:0.5034	.	196	P37802	TAGL2_HUMAN	C	196;217;196	ENSP00000357077:R196C;ENSP00000357076:R217C;ENSP00000357075:R196C	.	R	-	1	0	TAGLN2	158155228	1.000000	0.71417	0.975000	0.42487	0.996000	0.88848	3.226000	0.51254	0.628000	0.30357	0.655000	0.94253	CGC	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059105.1		-	ENST00000368097.4	Missense_Mutation	SNP	1 : 159888604 - 159888604 A PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	1001	28
TIMELESS	8914	broad.mit.edu	37	12	56825369	56825369	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:56825369C>T	ENST00000229201.4	-	8	858	c.704G>A	c.(703-705)gGa>gAa	p.G235E	TIMELESS_ENST00000553532.1_Missense_Mutation_p.G236E|TIMELESS_ENST00000554616.1_Missense_Mutation_p.G236E	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	236					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTGCCCTACTCCCGCCAGCTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	63	64			NA	NA	12		NA											NA				56825369		2203	4300	6503	SO:0001583	missense			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602	8914	8914			11813	protein-coding gene	gene with protein product	Tof1 homolog (S. cerevisiae), timeless circadian clock 1	603887	timeless (Drosophila) homolog, timeless homolog (Drosophila)		NA	9856465	Standard	NM_003920	NM_003920	NA	Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000229201.4:c.704G>A	12.37:g.56825369C>T	ENSP00000229201:p.Gly235Glu	NA	B2ZAV0|O94802|Q86VM1|Q8IWH3	37		.	.	.	.	.	.	.	.	.	.	C	2.672	-0.277284	0.05679	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.39056	1.1;1.1;1.1	5.42	3.49	0.39957	Timeless protein (1);	0.470219	0.24623	N	0.036943	T	0.18923	0.0454	N	0.04508	-0.205	0.09310	N	1	B;B	0.24675	0.089;0.109	B;B	0.30943	0.075;0.122	T	0.22800	-1.0206	10	0.11182	T	0.66	-0.0727	8.6066	0.33778	0.1394:0.5219:0.3387:0.0	.	235;236	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	E	235;236;236	ENSP00000229201:G235E;ENSP00000450607:G236E;ENSP00000450848:G236E	ENSP00000229201:G236E	G	-	2	0	TIMELESS	55111636	0.077000	0.21312	0.764000	0.31436	0.291000	0.27294	2.205000	0.42770	2.715000	0.92844	0.655000	0.94253	GGA	TIMELESS-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000409772.2		-	ENST00000229201.4	Missense_Mutation	SNP	12 : 56825369 - 56825369 T PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	473	26
TMEM132B	114795	broad.mit.edu	37	12	126138387	126138387	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:126138387G>A	ENST00000299308.3	+	9	2376	c.2368G>A	c.(2368-2370)Gaa>Aaa	p.E790K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.E302K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	790						integral to membrane		p.E790K(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGTCAAATTCGAACCAAGTAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	NS(1)											88	87	87			NA	NA	12		NA											NA				126138387		2059	4205	6264	SO:0001583	missense			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02					114795	114795			29397	protein-coding gene	gene with protein product					NA	11572484	Standard	NM_052907	NM_001286219	NA	Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2368G>A	12.37:g.126138387G>A	ENSP00000299308:p.Glu790Lys	NA	A2RRG8|Q8NA73|Q96JN9|Q96PY1	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678338	0.47886	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.13538	2.58;2.58	5.53	5.53	0.82687	.	0.479442	0.20533	N	0.090474	T	0.11580	0.0282	L	0.34521	1.04	0.40552	D	0.981121	P	0.47106	0.89	B	0.33295	0.161	T	0.10660	-1.0620	10	0.41790	T	0.15	.	19.4753	0.94985	0.0:0.0:1.0:0.0	.	790	Q14DG7	T132B_HUMAN	K	790;302	ENSP00000299308:E790K;ENSP00000440436:E302K	ENSP00000299308:E790K	E	+	1	0	TMEM132B	124704340	1.000000	0.71417	0.343000	0.25615	0.598000	0.36846	6.179000	0.71974	2.596000	0.87737	0.650000	0.86243	GAA	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400043.1		+	ENST00000299308.3	Missense_Mutation	SNP	12 : 126138387 - 126138387 A PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	375	15
TOM1L1	10040	broad.mit.edu	37	17	52993283	52993283	+	Silent	SNP	T	T	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:52993283T>C	ENST00000572405.1	+	7	807	c.675T>C	c.(673-675)ctT>ctC	p.L225L	TOM1L1_ENST00000445275.2_Intron|TOM1L1_ENST00000572158.1_Intron|TOM1L1_ENST00000570371.1_Intron|TOM1L1_ENST00000575333.1_Intron|TOM1L1_ENST00000540336.1_Intron|TOM1L1_ENST00000348161.4_Intron|TOM1L1_ENST00000575882.1_Intron|TOM1L1_ENST00000536554.1_Intron			O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	0	GAT.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TCTCTAAACTTTGAGTTTGGA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198	10040	10040			11983	protein-coding gene	gene with protein product		604701	target of myb1 (chicken) homolog-like 1		NA	10329004, 15611048, 17977829	Standard	NM_005486	NM_005486	NA	Approved	SRCASM	uc002iud.2	O75674		ENST00000572405.1:c.675T>C	17.37:g.52993283T>C		NA	Q53G06	37																																																																																				TOM1L1-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000439057.1		+	ENST00000572405.1	Silent	SNP	17 : 52993283 - 52993283 C PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	144	6
ZC3H13	23091	broad.mit.edu	37	13	46543773	46543773	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:46543773T>A	ENST00000242848.4	-	14	3254	c.2906A>T	c.(2905-2907)aAa>aTa	p.K969I	ZC3H13_ENST00000378921.2_5'UTR|ZC3H13_ENST00000282007.3_Missense_Mutation_p.K969I			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	969	Lys-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTCTTTCTTTTTCTTAATTGG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(187;747 2077 11056 31291 44172)							NA				0													151	148	149			NA	NA	13		NA											NA				46543773		2203	4300	6503	SO:0001583	missense			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200	23091	23091		Zinc fingers, CCCH-type domain containing	20368	protein-coding gene	gene with protein product			KIAA0853	KIAA0853	NA	10048485	Standard	NM_015070	XM_005266301	NA	Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2906A>T	13.37:g.46543773T>A	ENSP00000242848:p.Lys969Ile	NA	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	37		.	.	.	.	.	.	.	.	.	.	T	11.21	1.572751	0.28092	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.49139	1.81;0.79	5.78	2.02	0.26589	.	0.257379	0.33515	N	0.004827	T	0.56790	0.2009	M	0.62723	1.935	0.80722	D	1	P;D	0.54397	0.943;0.966	P;P	0.58266	0.69;0.836	T	0.56220	-0.8015	10	0.51188	T	0.08	.	10.1538	0.42809	0.0:0.1986:0.0:0.8014	.	969;969	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	I	969	ENSP00000242848:K969I;ENSP00000282007:K969I	ENSP00000242848:K969I	K	-	2	0	ZC3H13	45441774	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.762000	0.55250	0.543000	0.28864	0.533000	0.62120	AAA	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000044789.1		-	ENST00000242848.4	Missense_Mutation	SNP	13 : 46543773 - 46543773 A PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	400	10
ZFHX4	79776	broad.mit.edu	37	8	77766675	77766675	+	Silent	SNP	A	A	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:77766675A>G	ENST00000521891.2	+	10	7966	c.7518A>G	c.(7516-7518)gaA>gaG	p.E2506E	ZFHX4_ENST00000518282.1_Silent_p.E2480E|ZFHX4_ENST00000050961.6_Silent_p.E2461E|ZFHX4_ENST00000455469.2_Silent_p.E2461E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2461						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAACTCTGGAACTCTGGCAGG	0.478		NA								HNSCC(33;0.089)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	183	181			NA	NA	8		NA											NA				77766675		2060	4226	6286	SO:0001819	synonymous_variant				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656	79776	79776		Homeoboxes / ZF class	30939	protein-coding gene	gene with protein product		606940	zinc finger homeodomain 4		NA	10873665, 11935336	Standard	NM_024721	NM_024721	NA	Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7518A>G	8.37:g.77766675A>G		NA	Q18PS0|Q6ZN20	37	CCDS47878.2																																																																																			ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379197.2		+	ENST00000521891.2	Silent	SNP	8 : 77766675 - 77766675 G PAAD-TCGA-HZ-8002-Tumor-SM-2RBK2	860	23
