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
ACSM2A	123876	broad.mit.edu	37	16	20491925	20491925	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr16:20491925C>T	ENST00000573854.1	+	11	1426	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	ACSM2A_ENST00000536134.1_Nonsense_Mutation_p.R210*|ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000417235.2_Nonsense_Mutation_p.R359*|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	438					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGCCAACATTCGAGGAGACTT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	93	101			NA	NA	16		NA											NA				20491925		2203	4298	6501	SO:0001587	stop_gained			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747	123876	123876		Acyl-CoA synthetase family	32017	protein-coding gene	gene with protein product		614358	acyl-CoA synthetase medium-chain family member 2	ACSM2	NA		Standard	NM_001010845	NM_001010845	NA	Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1312C>T	16.37:g.20491925C>T	ENSP00000459451:p.Arg438*	NA	B3KTT9|O75202	37	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	C	39	7.630041	0.98399	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	.	.	.	3.22	2.21	0.28008	.	0.490322	0.14929	N	0.290162	.	.	.	.	.	.	0.32100	N	0.590723	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3051	6.6302	0.22853	0.1786:0.7175:0.0:0.1039	.	.	.	.	X	359;438;210;438	.	ENSP00000219054:R438X	R	+	1	2	ACSM2A	20399426	0.004000	0.15560	0.806000	0.32338	0.843000	0.47879	0.146000	0.16180	0.422000	0.26005	0.298000	0.19748	CGA	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436764.1		+	ENST00000573854.1	Nonsense_Mutation	SNP	16 : 20491925 - 20491925 T PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	836	16
ADAMTS12	81792	broad.mit.edu	37	5	33616037	33616037	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr5:33616037T>G	ENST00000504830.1	-	15	2619	c.2284A>C	c.(2284-2286)Aac>Cac	p.N762H	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N677H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	762	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGTTCCCGTTCCACTGGATA	0.468		NA								HNSCC(64;0.19)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	129	133			NA	NA	5		NA											NA				33616037		2203	4300	6503	SO:0001583	missense			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388	81792	81792		ADAM metallopeptidases with thrombospondin type 1 motif	14605	protein-coding gene	gene with protein product		606184	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12		NA	11279086	Standard	NM_030955	NM_030955	NA	Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2284A>C	5.37:g.33616037T>G	ENSP00000422554:p.Asn762His	NA	A2RRN9|A5D6V6|Q6UWL3	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431270	0.83776	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.51817	0.69;0.69	5.51	5.51	0.81932	ADAM-TS Spacer 1 (1);	0.089134	0.85682	D	0.000000	T	0.63920	0.2552	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.975	D;P	0.91635	0.999;0.807	T	0.62821	-0.6773	10	0.40728	T	0.16	.	15.2861	0.73828	0.0:0.0:0.0:1.0	.	677;762	P58397-3;P58397	.;ATS12_HUMAN	H	762;677	ENSP00000422554:N762H;ENSP00000344847:N677H	ENSP00000344847:N677H	N	-	1	0	ADAMTS12	33651794	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.961000	0.87903	2.068000	0.61886	0.459000	0.35465	AAC	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367164.2		-	ENST00000504830.1	Missense_Mutation	SNP	5 : 33616037 - 33616037 G PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	627	18
ADAMTS12	81792	broad.mit.edu	37	5	33616038	33616038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr5:33616038C>T	ENST00000504830.1	-	15	2618	c.2283G>A	c.(2281-2283)tgG>tgA	p.W761*	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.W676*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	761	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.W761*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGTTCCCGTTCCACTGGATAA	0.468		NA								HNSCC(64;0.19)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	large_intestine(1)											139	130	133			NA	NA	5		NA											NA				33616038		2203	4300	6503	SO:0001587	stop_gained			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388	81792	81792		ADAM metallopeptidases with thrombospondin type 1 motif	14605	protein-coding gene	gene with protein product		606184	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12		NA	11279086	Standard	NM_030955	NM_030955	NA	Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2283G>A	5.37:g.33616038C>T	ENSP00000422554:p.Trp761*	NA	A2RRN9|A5D6V6|Q6UWL3	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	44	10.873556	0.99481	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.51	5.51	0.81932	.	0.057874	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.015	0.92890	0.0:1.0:0.0:0.0	.	.	.	.	X	761;676	.	ENSP00000344847:W676X	W	-	3	0	ADAMTS12	33651795	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.741000	0.84997	2.558000	0.86282	0.561000	0.74099	TGG	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367164.2		-	ENST00000504830.1	Nonsense_Mutation	SNP	5 : 33616038 - 33616038 T PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	628	18
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R					ankyrin repeat domain 36C	NA								p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				9	Substitution - Missense(9)	kidney(6)|lung(3)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501	400986	400986		Ankyrin repeat domain containing	32946	protein-coding gene	gene with protein product	protein immuno-reactive with anti-PTH polyclonal antibodies				NA		Standard	NM_001010914	XR_251121	NA	Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4232A>G	2.37:g.96521777T>C	ENSP00000403302:p.His1411Arg	NA		37		.	.	.	.	.	.	.	.	.	.	t	1.211	-0.629664	0.03610	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.13196	2.61;2.61;2.61	1.87	0.665	0.17896	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.15870	0.014	T	0.42666	-0.9438	9	0.15952	T	0.53	.	1.8453	0.03158	0.2739:0.1735:0.0:0.5526	.	1411	Q5JPF3	AN36C_HUMAN	R	662;1411;438	ENSP00000415231:H662R;ENSP00000403302:H1411R;ENSP00000407838:H438R	ENSP00000407838:H438R	H	-	2	0	AC073995.2	95885504	1.000000	0.71417	0.011000	0.14972	0.003000	0.03518	1.050000	0.30404	0.187000	0.20147	-0.818000	0.03119	CAT	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000338799.2		-	ENST00000456556.1	Missense_Mutation	SNP	2 : 96521777 - 96521777 C PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	257	10
ATP10B	23120	broad.mit.edu	37	5	160034027	160034027	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr5:160034027G>A	ENST00000327245.5	-	19	3751	c.2905C>T	c.(2905-2907)Cca>Tca	p.P969S		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	969					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGCGGTCTGGCTTCTGTAGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	99	101			NA	NA	5		NA											NA				160034027		1932	4118	6050	SO:0001583	missense			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322	23120	23120		ATPases / P-type	13543	protein-coding gene	gene with protein product			ATPase, Class V, type 10B		NA	9872452, 11015572	Standard	NM_025153	NM_025153	NA	Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2905C>T	5.37:g.160034027G>A	ENSP00000313600:p.Pro969Ser	NA	Q9H725	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	7.993	0.753803	0.15778	.	.	ENSG00000118322	ENST00000327245	T	0.05996	3.36	5.05	0.51	0.16983	HAD-like domain (1);	0.350809	0.30742	N	0.008963	T	0.04588	0.0125	L	0.31845	0.965	0.20196	N	0.999925	B	0.30146	0.27	B	0.34931	0.192	T	0.36672	-0.9738	9	.	.	.	.	3.8603	0.08993	0.0801:0.2168:0.4445:0.2586	.	969	O94823	AT10B_HUMAN	S	969	ENSP00000313600:P969S	.	P	-	1	0	ATP10B	159966605	0.572000	0.26668	0.873000	0.34254	0.294000	0.27393	0.461000	0.21940	0.526000	0.28541	-0.302000	0.09304	CCA	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374127.1		-	ENST00000327245.5	Missense_Mutation	SNP	5 : 160034027 - 160034027 A PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	663	76
BRINP3	339479	broad.mit.edu	37	1	190067264	190067264	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:190067264G>A	ENST00000367462.3	-	8	2416	c.2185C>T	c.(2185-2187)Cgt>Tgt	p.R729C	BRINP3_ENST00000534846.1_Missense_Mutation_p.R627C	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	729											NA						AGTCTATGACGAAGCAAGCAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	111	113			NA	NA	1		NA											NA				190067264		2203	4300	6503	SO:0001583	missense			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670	339479	339479			22393	protein-coding gene	gene with protein product			family with sequence similarity 5, member C	FAM5C	NA	16018821, 15193423	Standard	NM_199051	NM_199051	NA	Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2185C>T	1.37:g.190067264G>A	ENSP00000356432:p.Arg729Cys	NA		37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043770	0.75732	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.23147	2.17;1.92	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.52092	0.1713	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.985	T	0.52465	-0.8572	10	0.87932	D	0	.	17.3704	0.87376	0.0:0.0:1.0:0.0	.	627;729	B7Z260;Q76B58	.;FAM5C_HUMAN	C	729;627	ENSP00000356432:R729C;ENSP00000438022:R627C	ENSP00000356432:R729C	R	-	1	0	FAM5C	188333887	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.799000	0.85936	2.695000	0.91970	0.650000	0.86243	CGT	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086278.1		-	ENST00000367462.3	Missense_Mutation	SNP	1 : 190067264 - 190067264 A PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	742	37
CDK5RAP2	55755	broad.mit.edu	37	9	123253652	123253652	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr9:123253652A>C	ENST00000349780.4	-	13	1594	c.1415T>G	c.(1414-1416)tTg>tGg	p.L472W	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.L472W|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.L472W|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.L472W	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	472					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TTGATTGTGCAATTTTTTATT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	182	189			NA	NA	9		NA											NA				123253652		2203	4300	6503	SO:0001583	missense			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861	55755	55755			18672	protein-coding gene	gene with protein product	centrosomin	608201	microcephaly, primary autosomal recessive 3	MCPH3	NA	10721722, 17764569, 24466316	Standard	NM_018249	NM_018249	NA	Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1415T>G	9.37:g.123253652A>C	ENSP00000343818:p.Leu472Trp	NA	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.768643	0.31320	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.76	4.59	0.56863	.	0.528460	0.15845	N	0.241808	T	0.64778	0.2629	M	0.66939	2.045	0.09310	N	0.999999	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;D;D	0.68943	0.961;0.961;0.944;0.915	T	0.56998	-0.7886	10	0.66056	D	0.02	.	11.7091	0.51614	0.8524:0.1476:0.0:0.0	.	273;472;472;472	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	W	472;472;472;472;474	ENSP00000354065:L472W;ENSP00000352258:L472W;ENSP00000343818:L472W;ENSP00000353317:L472W	ENSP00000341695:L474W	L	-	2	0	CDK5RAP2	122293473	0.059000	0.20769	0.001000	0.08648	0.030000	0.12068	3.122000	0.50446	0.969000	0.38237	0.528000	0.53228	TTG	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055535.1		-	ENST00000349780.4	Missense_Mutation	SNP	9 : 123253652 - 123253652 C PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	312	37
CPNE6	9362	broad.mit.edu	37	14	24546432	24546432	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr14:24546432G>A	ENST00000397016.2	+	16	1680	c.1369G>A	c.(1369-1371)Gtg>Atg	p.V457M	CPNE6_ENST00000537691.1_Missense_Mutation_p.V512M|CPNE6_ENST00000216775.2_Missense_Mutation_p.V457M	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	457	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CACTGCTATCGTGCGTGCCTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	98	105			NA	NA	14		NA											NA				24546432		2203	4300	6503	SO:0001583	missense			AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884	9362	9362			2319	protein-coding gene	gene with protein product		605688			NA	9645480	Standard		NM_001280558	NA	Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1369G>A	14.37:g.24546432G>A	ENSP00000380211:p.Val457Met	NA	B2RAG6|D3DS55|Q53HA6|Q8WVG1	37	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569874	0.65765	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.31247	1.5;1.5;1.5	5.06	5.06	0.68205	von Willebrand factor, type A (2);Copine (1);	0.000000	0.48286	D	0.000197	T	0.66127	0.2758	M	0.93507	3.425	0.51233	D	0.999918	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.998;0.999	T	0.76454	-0.2953	10	0.87932	D	0	-12.3339	15.9207	0.79570	0.0:0.0:1.0:0.0	.	512;282;457	F5GXN1;B3KWK1;O95741	.;.;CPNE6_HUMAN	M	512;457;457	ENSP00000440077:V512M;ENSP00000380211:V457M;ENSP00000216775:V457M	ENSP00000216775:V457M	V	+	1	0	CPNE6	23616272	1.000000	0.71417	0.991000	0.47740	0.208000	0.24298	8.019000	0.88732	2.347000	0.79759	0.467000	0.42956	GTG	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071869.5		+	ENST00000397016.2	Missense_Mutation	SNP	14 : 24546432 - 24546432 A PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	420	35
DMAP1	55929	broad.mit.edu	37	1	44680450	44680450	+	Silent	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:44680450G>A	ENST00000372289.2	+	3	536	c.273G>A	c.(271-273)aaG>aaA	p.K91K	DMAP1_ENST00000315913.5_Silent_p.K91K|DMAP1_ENST00000361745.6_Silent_p.K91K	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	91					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					GCTCCAAGAAGGTGCGGCCTT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	82	86			NA	NA	1		NA											NA				44680450		2203	4300	6503	SO:0001819	synonymous_variant			AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028	55929	55929			18291	protein-coding gene	gene with protein product		605077			NA	10888872, 10718198	Standard	NM_019100	XM_005271039	NA	Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.273G>A	1.37:g.44680450G>A		NA	A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	37	CCDS509.1																																																																																			DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000020027.3		+	ENST00000372289.2	Silent	SNP	1 : 44680450 - 44680450 A PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	415	10
DOT1L	84444	broad.mit.edu	37	19	2210769	2210769	+	Silent	SNP	C	C	T			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr19:2210769C>T	ENST00000398665.3	+	14	1302	c.1266C>T	c.(1264-1266)ccC>ccT	p.P422P		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	422						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCGAACCCCGAGCGGAAGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4022		0,0,2011	50	63	59		1266	-1.8	0.9	19		59	2,8310		0,2,4154	no	coding-synonymous	DOT1L	NM_032482.2		0,2,6165	TT,TC,CC	NA	0.0241,0.0,0.0162		422/1538	2210769	2,12332	2011	4156	6167	SO:0001819	synonymous_variant			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	84444	84444	2.1.1.43	Chromatin-modifying enzymes / K-methyltransferases	24948	protein-coding gene	gene with protein product	histone methyltransferase DOT1L	607375	DOT1-like, histone H3 methyltransferase (S. cerevisiae)		NA	11347906, 12123582	Standard	NM_032482	NM_032482	NA	Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1266C>T	19.37:g.2210769C>T		NA	O60379|Q96JL1	37	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	9.563	1.119008	0.20877	0.0	2.41E-4	ENSG00000104885	ENST00000440640	T	0.43294	0.95	4.84	-1.75	0.08031	.	0.214680	0.38778	N	0.001567	T	0.40719	0.1128	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20806	-1.0264	7	0.44086	T	0.13	-23.3002	6.5387	0.22369	0.0:0.2079:0.1517:0.6404	.	.	.	.	L	209	ENSP00000388276:P209L	ENSP00000388276:P209L	P	+	2	0	DOT1L	2161769	0.013000	0.17824	0.899000	0.35326	0.617000	0.37484	-1.172000	0.03112	-0.107000	0.12088	0.561000	0.74099	CCG	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318066.1		+	ENST00000398665.3	Silent	SNP	19 : 2210769 - 2210769 T PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	506	78
FAM47A	158724	broad.mit.edu	37	X	34149477	34149477	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chrX:34149477C>T	ENST00000346193.3	-	1	970	c.919G>A	c.(919-921)Gag>Aag	p.E307K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	307										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGTGGAGTCTCGAAAGGCCGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	23	22			NA	NA	X		NA											NA				34149477		2195	4297	6492	SO:0001583	missense			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448	158724	158724			29962	protein-coding gene	gene with protein product	similar to hypothetical protein FLJ35782				NA	12477932	Standard	NM_203408	NM_203408	NA	Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.919G>A	X.37:g.34149477C>T	ENSP00000345029:p.Glu307Lys	NA	A8K8I9|Q8TAA0	37	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	9.037	0.988840	0.18966	.	.	ENSG00000185448	ENST00000346193	T	0.19806	2.12	0.13	0.13	0.14746	.	.	.	.	.	T	0.11367	0.0277	L	0.52126	1.63	0.09310	N	1	P	0.49253	0.921	B	0.29353	0.101	T	0.30060	-0.9991	8	0.16896	T	0.51	.	.	.	.	.	307	Q5JRC9	FA47A_HUMAN	K	307	ENSP00000345029:E307K	ENSP00000345029:E307K	E	-	1	0	FAM47A	34059398	0.730000	0.28100	0.064000	0.19789	0.064000	0.16182	0.440000	0.21592	0.171000	0.19730	0.173000	0.16961	GAG	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056205.1		-	ENST00000346193.3	Missense_Mutation	SNP	X : 34149477 - 34149477 T PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	202	36
FAT3	120114	broad.mit.edu	37	11	92533399	92533399	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr11:92533399C>T	ENST00000525166.1	+	9	6792	c.6770C>T	c.(6769-6771)gCc>gTc	p.A2257V	FAT3_ENST00000298047.6_Missense_Mutation_p.A2407V|FAT3_ENST00000409404.2_Missense_Mutation_p.A2407V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2407	Cadherin 20.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTGAATTAGCCCCCCGGGGC	0.443		NA								TCGA Ovarian(4;0.039)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	86	86			NA	NA	11		NA											NA				92533399		1825	4078	5903	SO:0001583	missense			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323	120114	120114		Cadherins / Cadherin-related	23112	protein-coding gene	gene with protein product	cadherin-related family member 10	612483	FAT tumor suppressor homolog 3 (Drosophila)		NA	11811999	Standard	NM_001008781	NM_001008781	NA	Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000525166.1:c.6770C>T	11.37:g.92533399C>T	ENSP00000432586:p.Ala2257Val	NA	B5MDB0|Q96AU6	37		.	.	.	.	.	.	.	.	.	.	C	21.9	4.220431	0.79464	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.55588	0.51;0.51;0.51	5.86	5.86	0.93980	.	.	.	.	.	T	0.74283	0.3696	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72404	-0.4304	9	0.45353	T	0.12	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	2407	Q8TDW7-3	.	V	2407;2407;2257	ENSP00000298047:A2407V;ENSP00000387040:A2407V;ENSP00000432586:A2257V	ENSP00000298047:A2407V	A	+	2	0	FAT3	92173047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.755000	0.85180	2.778000	0.95560	0.655000	0.94253	GCC	FAT3-001	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000335363.3		+	ENST00000525166.1	Missense_Mutation	SNP	11 : 92533399 - 92533399 T PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	616	13
GRIK3	2899	broad.mit.edu	37	1	37324731	37324731	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:37324731C>T	ENST00000373091.3	-	7	1098	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	GRIK3_ENST00000373093.4_Missense_Mutation_p.R361H|GRIK3_ENST00000462621.1_5'UTR	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	361					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.R361H(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTTCATGAAGCGGCCGCCAAA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	prostate(1)|lung(1)											77	81	80			NA	NA	1		NA											NA				37324731		2203	4300	6503	SO:0001583	missense			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873	2899	2899		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4581	protein-coding gene	gene with protein product		138243			NA	8128318	Standard	NM_000831	NM_000831	NA	Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1082G>A	1.37:g.37324731C>T	ENSP00000362183:p.Arg361His	NA	B1AMS6|Q13004|Q16136	37	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	35	5.578993	0.96565	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.83163	-1.69;-1.69	5.68	5.68	0.88126	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89037	0.6601	M	0.71581	2.175	0.80722	D	1	D;D	0.55605	0.972;0.963	P;P	0.55545	0.778;0.703	D	0.88965	0.3396	10	0.54805	T	0.06	.	19.7849	0.96432	0.0:1.0:0.0:0.0	.	361;361	A9Z1Z8;Q13003	.;GRIK3_HUMAN	H	361	ENSP00000362183:R361H;ENSP00000362185:R361H	ENSP00000362183:R361H	R	-	2	0	GRIK3	37097318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.785000	0.68998	2.671000	0.90904	0.650000	0.86243	CGC	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012053.1		-	ENST00000373091.3	Missense_Mutation	SNP	1 : 37324731 - 37324731 T PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	566	90
GRM1	2911	broad.mit.edu	37	6	146720262	146720262	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr6:146720262G>A	ENST00000392299.2	+	8	2557	c.2087G>A	c.(2086-2088)cGg>cAg	p.R696Q	GRM1_ENST00000361719.2_Missense_Mutation_p.R696Q|GRM1_ENST00000492807.2_Missense_Mutation_p.R696Q|GRM1_ENST00000282753.1_Missense_Mutation_p.R696Q|GRM1_ENST00000507907.1_Missense_Mutation_p.R696Q|GRM1_ENST00000355289.4_Missense_Mutation_p.R696Q			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	696			R -> W (in a colorectal cancer sample; somatic mutation).		synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ATCTGCACCCGGAAGCCCAGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	132	133			NA	NA	6		NA											NA				146720262		2203	4300	6503	SO:0001583	missense			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822	2911	2911		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4593	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 85	604473			NA	9076744, 9376535	Standard	NM_000838	NM_001278064	NA	Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000392299.2:c.2087G>A	6.37:g.146720262G>A	ENSP00000376119:p.Arg696Gln	NA	B9EG79|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	37	CCDS47497.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016814	0.35606	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26	5.51	5.51	0.81932	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.84647	0.5518	L	0.37850	1.14	0.58432	D	0.999998	D;D;D	0.76494	0.997;0.999;0.997	P;D;P	0.64321	0.852;0.924;0.852	T	0.80883	-0.1183	10	0.06365	T	0.9	.	19.4081	0.94656	0.0:0.0:1.0:0.0	.	696;696;696	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	Q	696	ENSP00000354896:R696Q;ENSP00000376119:R696Q;ENSP00000424095:R696Q;ENSP00000282753:R696Q;ENSP00000347437:R696Q;ENSP00000425599:R696Q	ENSP00000282753:R696Q	R	+	2	0	GRM1	146761955	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.876000	0.87215	2.604000	0.88044	0.585000	0.79938	CGG	GRM1-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042575.2		+	ENST00000392299.2	Missense_Mutation	SNP	6 : 146720262 - 146720262 A PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	842	17
HS6ST2	90161	broad.mit.edu	37	X	131762528	131762528	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chrX:131762528C>T	ENST00000370836.2	-	4	1956	c.1541G>A	c.(1540-1542)cGt>cAt	p.R514H	HS6ST2_ENST00000406696.3_Missense_Mutation_p.R240H|HS6ST2_ENST00000521489.1_Missense_Mutation_p.R554H|HS6ST2_ENST00000370833.2_Missense_Mutation_p.R408H	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	514						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TTGTTCCTGACGCTTTCGCCT	0.483		NA											C	0	0	NA	NA	1659	NA	1	,	,	NA	2e-04	NA	NA	NA	0	0.05	LOWCOV	NA	NA	7e-04	SNP								NA				0													108	105	106			NA	NA	X		NA											NA				131762528		1974	4127	6101	SO:0001583	missense			AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004	90161	90161		Sulfotransferases, membrane-bound	19133	protein-coding gene	gene with protein product		300545			NA	10644753	Standard	NM_147174	NM_147175	NA	Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1541G>A	X.37:g.131762528C>T	ENSP00000359873:p.Arg514His	NA	B9WRT4|B9WRT5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	37	CCDS48169.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	17.93	3.508910	0.64410	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000406696;ENST00000370833	T;T;T;T;T	0.81330	-1.4;-0.86;-0.77;-1.48;-1.25	6.01	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	L	0.54323	1.7	0.45899	D	0.998743	P;P;B	0.43231	0.801;0.801;0.019	B;B;B	0.27500	0.08;0.08;0.004	T	0.69960	-0.5003	10	0.72032	D	0.01	-3.7585	10.293	0.43608	0.0:0.7937:0.1322:0.0742	.	514;554;240	Q96MM7;E9PDY5;B7Z5H6	H6ST2_HUMAN;.;.	H	368;514;554;240;408	ENSP00000359874:R368H;ENSP00000359873:R514H;ENSP00000429473:R554H;ENSP00000384013:R240H;ENSP00000359870:R408H	ENSP00000359870:R408H	R	-	2	0	HS6ST2	131590209	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.070000	0.71220	0.665000	0.31066	0.594000	0.82650	CGT	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058332.3		-	ENST00000370836.2	Missense_Mutation	SNP	X : 131762528 - 131762528 T PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	714	15
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	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>T	12.37:g.25398284C>A	ENSP00000308495:p.Gly12Val	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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 A PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	139	16
MOV10L1	54456	broad.mit.edu	37	22	50553049	50553049	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr22:50553049C>T	ENST00000262794.5	+	7	1207	c.1124C>T	c.(1123-1125)cCa>cTa	p.P375L	MOV10L1_ENST00000545383.1_Missense_Mutation_p.P375L|MOV10L1_ENST00000395858.3_Missense_Mutation_p.P375L|MOV10L1_ENST00000540615.1_Missense_Mutation_p.P355L|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	375					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGAATCTCTCCAGGTAGTGGA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	42	40			NA	NA	22		NA											NA				50553049		2199	4297	6496	SO:0001583	missense			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146	54456	54456			7201	protein-coding gene	gene with protein product	cardiac helicase activated by MEF2C protein	605794	Mov10 (mouse)-like 1, Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)		NA	11279525	Standard	NM_018995	NM_018995	NA	Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1124C>T	22.37:g.50553049C>T	ENSP00000262794:p.Pro375Leu	NA	B7WPP1|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875431	0.33162	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.85702	-1.83;-1.83;-1.42;-2.02	6.04	4.84	0.62591	.	0.562070	0.17296	N	0.179461	T	0.80874	0.4707	L	0.54323	1.7	0.80722	D	1	B;P;B;B	0.34724	0.418;0.465;0.335;0.335	B;B;B;B	0.34242	0.075;0.178;0.058;0.08	T	0.75445	-0.3315	10	0.17832	T	0.49	-3.1	13.463	0.61237	0.0:0.9129:0.0:0.0871	.	136;355;375;375	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	L	375;375;375;355	ENSP00000438978:P375L;ENSP00000262794:P375L;ENSP00000379199:P375L;ENSP00000438542:P355L	ENSP00000262794:P375L	P	+	2	0	MOV10L1	48895176	0.715000	0.27946	0.641000	0.29422	0.103000	0.19146	1.020000	0.30027	2.873000	0.98535	0.563000	0.77884	CCA	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075009.2		+	ENST00000262794.5	Missense_Mutation	SNP	22 : 50553049 - 50553049 T PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	346	9
NAA40	79829	broad.mit.edu	37	11	63720021	63720021	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr11:63720021G>A	ENST00000542163.1	+	5	675	c.331G>A	c.(331-333)Gat>Aat	p.D111N	NAA40_ENST00000539656.1_Intron|NAA40_ENST00000377793.4_Missense_Mutation_p.D132N|NAA40_ENST00000456907.2_Missense_Mutation_p.D92N|NAA40_ENST00000536939.1_3'UTR			Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	132	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						GGAGTGTGGGGATGAAGTCCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	132	140			NA	NA	11		NA											NA				63720021		2201	4297	6498	SO:0001583	missense			AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583	79829	79829		N(alpha)-acetyltransferase subunits	25845	protein-coding gene	gene with protein product			N-acetyltransferase 11, N-acetyltransferase 11 (GCN5-related, putative), N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)	NAT11	NA	19660095	Standard	NM_024771	XM_005274296	NA	Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000542163.1:c.331G>A	11.37:g.63720021G>A	ENSP00000442055:p.Asp111Asn	NA	Q5HYL5|Q9H897	37		.	.	.	.	.	.	.	.	.	.	G	33	5.219701	0.95139	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000542163	T;T;T	0.21932	1.98;1.98;1.98	5.63	5.63	0.86233	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.044312	0.85682	D	0.000000	T	0.31358	0.0794	L	0.45422	1.42	0.80722	D	1	P;P	0.52577	0.954;0.922	P;P	0.54060	0.741;0.697	T	0.00896	-1.1523	10	0.18276	T	0.48	-14.1974	18.432	0.90628	0.0:0.0:1.0:0.0	.	92;132	B4DU10;Q86UY6	.;NAA40_HUMAN	N	132;92;111	ENSP00000367024:D132N;ENSP00000407578:D92N;ENSP00000442055:D111N	ENSP00000367024:D132N	D	+	1	0	NAA40	63476597	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.514000	0.98013	2.645000	0.89757	0.484000	0.47621	GAT	NAA40-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000396269.1		+	ENST00000542163.1	Missense_Mutation	SNP	11 : 63720021 - 63720021 A PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	338	8
NRSN1	140767	broad.mit.edu	37	6	24134622	24134622	+	Missense_Mutation	SNP	C	C	T	rs143725119		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr6:24134622C>T	ENST00000378491.4	+	3	368	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	NRSN1_ENST00000378478.1_Missense_Mutation_p.R23C|NRSN1_ENST00000378475.1_Missense_Mutation_p.R23C	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	23					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TGGTTACCAGCGCTATGGAGT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	135	122	127		67	5.8	1	6	dbSNP_134	127	0,8600		0,0,4300	yes	missense	NRSN1	NM_080723.4	180	0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154	probably-damaging	23/196	24134622	2,13004	2203	4300	6503	SO:0001583	missense			AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954	140767	140767			17881	protein-coding gene	gene with protein product			vesicular membrane protein p24	VMP	NA	12463420	Standard	NM_080723	NM_080723	NA	Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.67C>T	6.37:g.24134622C>T	ENSP00000367752:p.Arg23Cys	NA	B2RAV4|Q8N8R6|Q96P21	37	CCDS4549.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652867	0.88056	4.54E-4	0.0	ENSG00000152954	ENST00000378491;ENST00000378478;ENST00000378477;ENST00000378475	T;T;T	0.18338	2.22;2.22;2.22	5.85	5.85	0.93711	.	0.105826	0.64402	D	0.000003	T	0.27663	0.0680	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	P	0.56700	0.804	T	0.01004	-1.1484	10	0.87932	D	0	.	20.1634	0.98142	0.0:1.0:0.0:0.0	.	23	Q8IZ57	NRSN1_HUMAN	C	23	ENSP00000367752:R23C;ENSP00000367739:R23C;ENSP00000367736:R23C	ENSP00000367736:R23C	R	+	1	0	NRSN1	24242601	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.736000	0.55052	2.773000	0.95371	0.655000	0.94253	CGC	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043866.1		+	ENST00000378491.4	Missense_Mutation	SNP	6 : 24134622 - 24134622 T PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	313	10
PADI1	29943	broad.mit.edu	37	1	17570638	17570638	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:17570638A>T	ENST00000375471.4	+	16	1984	c.1892A>T	c.(1891-1893)gAt>gTt	p.D631V	PADI1_ENST00000536552.1_Missense_Mutation_p.D102V|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Missense_Mutation_p.D146V|PADI1_ENST00000537499.1_Missense_Mutation_p.D188V	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	631					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ATCTTCATTGATGACTACTTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(80;414 1257 4580 27746 50832)							NA				0													100	91	94			NA	NA	1		NA											NA				17570638		2203	4300	6503	SO:0001583	missense			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	29943	29943	3.5.3.15	Peptidyl arginine deiminases	18367	protein-coding gene	gene with protein product	peptidylarginine deiminase type I, protein-arginine deiminase type-1, hPAD-colony 10	607934			NA	12416996	Standard	NM_013358	NM_013358	NA	Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1892A>T	1.37:g.17570638A>T	ENSP00000364620:p.Asp631Val	NA	A1L4K6|Q70SX6	37	CCDS178.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.601209	0.66445	.	.	ENSG00000142623	ENST00000375471;ENST00000537499;ENST00000413717;ENST00000536552	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.19	5.19	0.71726	Protein-arginine deiminase, C-terminal (1);	0.055229	0.64402	D	0.000001	T	0.62221	0.2410	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.71283	-0.4639	10	0.87932	D	0	-21.0955	13.8958	0.63770	1.0:0.0:0.0:0.0	.	146;631	B4DPX6;Q9ULC6	.;PADI1_HUMAN	V	631;188;146;102	ENSP00000364620:D631V;ENSP00000444032:D188V;ENSP00000396697:D146V;ENSP00000444833:D102V	ENSP00000364620:D631V	D	+	2	0	PADI1	17443225	1.000000	0.71417	0.832000	0.32986	0.445000	0.32107	9.063000	0.93927	1.965000	0.57142	0.459000	0.35465	GAT	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006621.1		+	ENST00000375471.4	Missense_Mutation	SNP	1 : 17570638 - 17570638 T PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	423	12
PSD	5662	broad.mit.edu	37	10	104170669	104170669	+	Silent	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr10:104170669G>A	ENST00000020673.5	-	10	2563	c.2037C>T	c.(2035-2037)atC>atT	p.I679I	PSD_ENST00000406432.1_Silent_p.I679I	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	679	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCAGGTTCCCGATGAAGTCCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	76	75			NA	NA	10		NA											NA				104170669		2203	4300	6503	SO:0001819	synonymous_variant			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915	5662	5662		Pleckstrin homology (PH) domain containing	9507	protein-coding gene	gene with protein product		602327	pleckstrin and Sec7 domain protein		NA	9417912	Standard		NM_002779	NA	Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2037C>T	10.37:g.104170669G>A		NA	B1AKX7|D3DR87|Q15673|Q8IVG0	37	CCDS31272.1																																																																																			PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050041.2		-	ENST00000020673.5	Silent	SNP	10 : 104170669 - 104170669 A PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	704	34
RBM15	64783	broad.mit.edu	37	1	110883698	110883698	+	Silent	SNP	A	A	C			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:110883698A>C	ENST00000369784.3	+	1	2571	c.1671A>C	c.(1669-1671)gcA>gcC	p.A557A	RBM15_ENST00000602849.1_Silent_p.A557A|RBM15_ENST00000487146.2_Silent_p.A557A	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	557					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GACATCGGGCACCAGACCCTT	0.532		NA	T	MKL1	acute megakaryocytic leukemia									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0													60	55	57			NA	NA	1		NA											NA				110883698		2203	4300	6503	SO:0001819	synonymous_variant			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775	64783	64783		RNA binding motif (RRM) containing	14959	protein-coding gene	gene with protein product	one twenty-two	606077			NA	11431691, 11344311	Standard	NM_022768	NM_001201545	NA	Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1671A>C	1.37:g.110883698A>C		NA	Q4V760|Q5D058|Q5T613|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	37	CCDS822.1																																																																																			RBM15-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000031114.2		+	ENST00000369784.3	Silent	SNP	1 : 110883698 - 110883698 C PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	342	10
ZBTB22	9278	broad.mit.edu	37	6	33284203	33284203	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr6:33284203G>A	ENST00000431845.2	-	2	642	c.491C>T	c.(490-492)aCc>aTc	p.T164I	ZBTB22_ENST00000418724.1_Missense_Mutation_p.T164I	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGTGACAGAGGTGGCTGCAGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	71	71			NA	NA	6		NA											NA				33284203		2202	4300	6502	SO:0001583	missense			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104	NA	9278		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	13085	protein-coding gene	gene with protein product		611439	zinc finger protein 297	ZNF297	NA		Standard		NM_005453	NA	Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.491C>T	6.37:g.33284203G>A	ENSP00000407545:p.Thr164Ile	NA	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	37	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314965	0.23908	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.06142	3.34;3.34	3.53	3.53	0.40419	.	0.500652	0.15013	N	0.285427	T	0.01421	0.0046	N	0.14661	0.345	0.26247	N	0.978772	B	0.26975	0.165	B	0.22601	0.04	T	0.46775	-0.9167	10	0.33141	T	0.24	.	10.8007	0.46487	0.0:0.0:1.0:0.0	.	164	O15209	ZBT22_HUMAN	I	164	ENSP00000404403:T164I;ENSP00000407545:T164I	ENSP00000404403:T164I	T	-	2	0	ZBTB22	33392181	0.997000	0.39634	0.997000	0.53966	0.983000	0.72400	0.435000	0.21510	1.990000	0.58119	0.551000	0.68910	ACC	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076183.2		-	ENST00000431845.2	Missense_Mutation	SNP	6 : 33284203 - 33284203 A PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	584	17
ZNF284	342909	broad.mit.edu	37	19	44590411	44590411	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr19:44590411T>G	ENST00000421176.3	+	5	996	c.780T>G	c.(778-780)atT>atG	p.I260M	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AACCTCATATTTGTGAGGAAT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	81	79			NA	NA	19		NA											NA				44590411		2185	4288	6473	SO:0001583	missense			AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026	342909	342909		Zinc fingers, C2H2-type, -	13078	protein-coding gene	gene with protein product					NA	12743021	Standard	NM_001037813	NM_001037813	NA	Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.780T>G	19.37:g.44590411T>G	ENSP00000411032:p.Ile260Met	NA	Q86WM1	37	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	t	12.86	2.064710	0.36470	.	.	ENSG00000186026	ENST00000421176	T	0.17528	2.27	2.59	-5.18	0.02840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13500	0.0327	N	0.26162	0.8	0.09310	N	1	P	0.52463	0.953	P	0.50860	0.652	T	0.13098	-1.0522	9	0.72032	D	0.01	.	4.1304	0.10146	0.4782:0.0:0.2078:0.3139	.	260	Q2VY69	ZN284_HUMAN	M	260	ENSP00000411032:I260M	ENSP00000411032:I260M	I	+	3	3	ZNF284	49282251	0.000000	0.05858	0.004000	0.12327	0.189000	0.23516	-4.639000	0.00205	-0.871000	0.04042	0.379000	0.24179	ATT	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460473.1		+	ENST00000421176.3	Missense_Mutation	SNP	19 : 44590411 - 44590411 G PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	585	14
ZNF532	55205	broad.mit.edu	37	18	56586416	56586416	+	Silent	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr18:56586416G>A	ENST00000336078.4	+	4	1673	c.897G>A	c.(895-897)ccG>ccA	p.P299P	ZNF532_ENST00000589288.1_Silent_p.P299P|ZNF532_ENST00000591230.1_Silent_p.P299P|ZNF532_ENST00000591083.1_Silent_p.P299P|ZNF532_ENST00000591808.1_Silent_p.P299P	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AATCCTCCCCGTTACCAAAAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	81	82	82		897	-9.9	0.1	18		82	0,8598		0,0,4299	no	coding-synonymous	ZNF532	NM_018181.4		0,1,6501	AA,AG,GG	NA	0.0,0.0227,0.0077		299/1302	56586416	1,13003	2203	4299	6502	SO:0001819	synonymous_variant			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657	55205	55205		Zinc fingers, C2H2-type	30940	protein-coding gene	gene with protein product					NA	10997877	Standard	NM_018181	XM_005266723	NA	Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.897G>A	18.37:g.56586416G>A		NA	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	37	CCDS11969.1																																																																																			ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256130.1		+	ENST00000336078.4	Silent	SNP	18 : 56586416 - 56586416 A PAAD-TCGA-HZ-A49H-Tumor-SM-47KKG	766	14
