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
AANAT	15	broad.mit.edu	37	17	74464914	74464914	+	Missense_Mutation	SNP	G	G	A	rs141006262	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:74464914G>A	ENST00000250615.3	+	5	1228	c.221G>A	c.(220-222)cGc>cAc	p.R74H	AANAT_ENST00000392492.3_Missense_Mutation_p.R29H	NM_001166579.1	NP_001160051.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	29	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						TGTCAGCGGCGCCACACACTC	0.662		NA											G	5	0.0023	0.01	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	0.0023	0.9823	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								G	HIS/ARG,HIS/ARG	14,4392	22.3+/-47.3	0,14,2189	46	45	45		86,221	4.3	1	17	dbSNP_134	45	0,8600		0,0,4300	yes	missense,missense	AANAT	NM_001088.2,NM_001166579.1	29,29	0,14,6489	AA,AG,GG	NA	0.0,0.3177,0.1076	probably-damaging,probably-damaging	29/208,74/253	74464914	14,12992	2203	4300	6503	SO:0001583	missense			U40347	CCDS11745.1, CCDS54169.1	17q25.1	2013-10-15	2010-05-07		ENSG00000129673	ENSG00000129673	15	15	2.3.1.87		19	protein-coding gene	gene with protein product	serotonin N-acetyltransferase	600950	arylalkylamine N-acetyltransferase		NA	8661026	Standard	NM_001088	NM_001088	NA	Approved	SNAT	uc002jro.3	Q16613	OTTHUMG00000180179	ENST00000250615.3:c.221G>A	17.37:g.74464914G>A	ENSP00000250615:p.Arg74His	NA	A0AVF2|Q562F4	37	CCDS54169.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	22.0	4.226616	0.79576	0.003177	0.0	ENSG00000129673	ENST00000250615;ENST00000392492	T;T	0.55930	0.49;0.6	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79429	-0.1807	10	0.72032	D	0.01	-6.0846	16.7956	0.85601	0.0:0.0:1.0:0.0	.	29	Q16613	SNAT_HUMAN	H	74;29	ENSP00000250615:R74H;ENSP00000376282:R29H	ENSP00000250615:R74H	R	+	2	0	AANAT	71976509	1.000000	0.71417	0.987000	0.45799	0.752000	0.42762	9.117000	0.94347	1.942000	0.56320	0.462000	0.41574	CGC	AANAT-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450129.1		+	ENST00000250615.3	Missense_Mutation	SNP	17 : 74464914 - 74464914 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	161	4
ADAMTSL3	57188	broad.mit.edu	37	15	84651305	84651305	+	Silent	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:84651305C>T	ENST00000286744.5	+	21	3149	c.2925C>T	c.(2923-2925)ccC>ccT	p.P975P	ADAMTSL3_ENST00000567476.1_Silent_p.P975P	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	975	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGCTGCCCCCGACATCGGCG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	81	80			NA	NA	15		NA											NA				84651305		2203	4300	6503	SO:0001819	synonymous_variant			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218	57188	57188		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	14633	protein-coding gene	gene with protein product		609199			NA	9628581, 10574462	Standard	NM_207517	NM_207517	NA	Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2925C>T	15.37:g.84651305C>T		NA	A1A566|A1A567|Q9ULI7	37	CCDS10326.1																																																																																			ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000304007.2		+	ENST00000286744.5	Silent	SNP	15 : 84651305 - 84651305 T PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	394	12
AHNAK2	113146	broad.mit.edu	37	14	105412407	105412407	+	Silent	SNP	C	C	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr14:105412407C>A	ENST00000557457.1	-	2	24				AHNAK2_ENST00000333244.5_Silent_p.G3127G			Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	NA						nucleus		p.G3127G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGACAGGTCCCCCTCCAGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	ovary(1)						A		0,3924		0,0,1962	152	129	136		9381	-6.6	0	14		136	2,8232		0,2,4115	no	coding-synonymous	AHNAK2	NM_138420.2		0,2,6077	AA,AC,CC	NA	0.0243,0.0,0.0165		3127/5796	105412407	2,12156	1962	4117	6079	SO:0001627	intron_variant			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567	113146	113146			20125	protein-coding gene	gene with protein product		608570	chromosome 14 open reading frame 78	C14orf78	NA	15007166	Standard	NM_138420	NM_138420	NA	Approved		uc010axc.1	Q8IVF2		ENST00000557457.1:c.220-5092G>T	14.37:g.105412407C>A		NA	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	37																																																																																				AHNAK2-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410299.1		-	ENST00000557457.1	Intron	SNP	14 : 105412407 - 105412407 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	1237	11
ARAP3	64411	broad.mit.edu	37	5	141053229	141053229	+	Missense_Mutation	SNP	G	G	A	rs149350776		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr5:141053229G>A	ENST00000508305.1	-	5	860	c.611C>T	c.(610-612)aCg>aTg	p.T204M	ARAP3_ENST00000239440.4_Missense_Mutation_p.T282M			Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	282					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCGGTCTGCCGTGAAGGAGAA	0.607		NA											G	1	5e-04	NA	NA	2184	NA	0.9998	,	,	NA	3e-04	0.0013	NA	NA	4e-04	0.7999	EXOME	NA	NA	0.0029	SNP								NA				0								G	MET/THR	4,4402	8.1+/-20.4	0,4,2199	156	156	156		845	2.8	0.9	5	dbSNP_134	156	0,8600		0,0,4300	yes	missense	ARAP3	NM_022481.5	81	0,4,6499	AA,AG,GG	NA	0.0,0.0908,0.0308	benign	282/1545	141053229	4,13002	2203	4300	6503	SO:0001583	missense			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318	64411	64411		ADP-ribosylation factor GTPase activating proteins, Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	24097	protein-coding gene	gene with protein product		606647	centaurin, delta 3	CENTD3	NA	11804589, 12015138	Standard	NM_022481	XM_005268497	NA	Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000508305.1:c.611C>T	5.37:g.141053229G>A	ENSP00000421826:p.Thr204Met	NA	D3DQE3	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.85	2.359944	0.41801	9.08E-4	0.0	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000504448	T;T;T	0.18338	2.49;3.19;2.22	4.87	2.79	0.32731	.	0.832410	0.10688	N	0.645579	T	0.09423	0.0232	L	0.29908	0.895	0.80722	D	1	P;B	0.42584	0.784;0.154	B;B	0.33454	0.164;0.015	T	0.23154	-1.0196	10	0.32370	T	0.25	.	4.4043	0.11402	0.4754:0.0:0.5246:0.0	.	204;282	G5E9Y3;Q8WWN8	.;ARAP3_HUMAN	M	201;204;282;282	ENSP00000421826:T204M;ENSP00000239440:T282M;ENSP00000421148:T282M	ENSP00000239440:T282M	T	-	2	0	ARAP3	141033413	0.991000	0.36638	0.904000	0.35570	0.039000	0.13416	2.662000	0.46766	1.040000	0.40099	0.557000	0.71058	ACG	ARAP3-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000373653.2		-	ENST00000508305.1	Missense_Mutation	SNP	5 : 141053229 - 141053229 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	552	11
ARID1A	8289	broad.mit.edu	37	1	27105586	27105586	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:27105586G>T	ENST00000457599.2	+	20	4546	c.4546G>T	c.(4546-4548)Gag>Tag	p.E1516*	ARID1A_ENST00000324856.7_Nonsense_Mutation_p.E1733*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.E61*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1350*	NM_139135.2	NP_624361.1	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1733					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.E1733*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATTTTAAAGGAGTATGAGGT	0.478		NA	Mis, N, F, S, D		clear cell ovarian carcinoma, RCC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Nonsense(1)	endometrium(1)											138	148	144			NA	NA	1		NA											NA				27105586		2203	4300	6503	SO:0001587	stop_gained			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713	8289	8289		-	11110	protein-coding gene	gene with protein product		603024	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1, AT rich interactive domain 1A (SWI- like)	C1orf4, SMARCF1	NA	9630625, 9434167	Standard	NM_139135	NM_139135	NA	Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000457599.2:c.4546G>T	1.37:g.27105586G>T	ENSP00000387636:p.Glu1516*	NA	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	37	CCDS44091.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.761334|9.761334	0.99257|0.99257	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	.|.	.|.	.|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74596	.|0.3737	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73119	.|-0.4083	.|4	0.49607|.	T|.	0.09|.	-13.7961|-13.7961	18.7335|18.7335	0.91744|0.91744	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	1733;1516;1350;61|629	.|.	ENSP00000320485:E1733X|.	E|G	+|+	1|2	0|0	ARID1A|ARID1A	26978173|26978173	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.084000|9.084000	0.94076|0.94076	2.738000|2.738000	0.93877|0.93877	0.591000|0.591000	0.81541|0.81541	GAG|GGA	ARID1A-002	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011438.2		+	ENST00000457599.2	Nonsense_Mutation	SNP	1 : 27105586 - 27105586 T PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	872	18
BPTF	2186	broad.mit.edu	37	17	65882284	65882284	+	Silent	SNP	T	T	C			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:65882284T>C	ENST00000424123.3	+	6	1677	c.1677T>C	c.(1675-1677)gcT>gcC	p.A559A	BPTF_ENST00000335221.5_Silent_p.A698A|BPTF_ENST00000321892.4_Silent_p.A698A|BPTF_ENST00000306378.6_Intron			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	698					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACACTAGTGCTACCACTACCT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	122	123			NA	NA	17		NA											NA				65882284		2203	4300	6503	SO:0001819	synonymous_variant			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634	2186	2186		Zinc fingers, PHD-type	3581	protein-coding gene	gene with protein product		601819	fetal Alzheimer antigen	FALZ	NA	8975731, 10662542, 16728976	Standard	NM_182641, NM_004459	NM_182641	NA	Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000424123.3:c.1677T>C	17.37:g.65882284T>C		NA	Q6NX67|Q7Z7D6|Q9UIG2	37																																																																																				BPTF-001	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000255333.2		+	ENST00000424123.3	Silent	SNP	17 : 65882284 - 65882284 C PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	493	16
BRD9	65980	broad.mit.edu	37	5	889786	889786	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr5:889786T>A	ENST00000467963.1	-	4	567				BRD9_ENST00000483173.1_Intron|BRD9_ENST00000435709.2_Missense_Mutation_p.N10I|BRD9_ENST00000323510.4_Missense_Mutation_p.N10I|BRD9_ENST00000388890.4_Missense_Mutation_p.N10I	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	NA							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GAAAAAAAAATTGAATACAAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	89	88			NA	NA	5		NA											NA				889786		2203	4300	6503	SO:0001627	intron_variant			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310	65980	65980			25818	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_023924	NM_023924	NA	Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.401-24A>T	5.37:g.889786T>A		NA	A6NFY8|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	37	CCDS34127.2	.	.	.	.	.	.	.	.	.	.	T	11.79	1.744156	0.30865	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000435709;ENST00000489093	T;T;T;T	0.35605	1.53;1.53;1.3;1.33	4.32	-8.65	0.00870	.	1.608980	0.03781	N	0.261414	T	0.21550	0.0519	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18209	-1.0344	9	0.87932	D	0	.	1.3174	0.02110	0.3499:0.2089:0.2817:0.1595	.	10;10	Q9H8M2-1;Q9H8M2-3	.;.	I	10	ENSP00000323557:N10I;ENSP00000373542:N10I;ENSP00000402984:N10I;ENSP00000420722:N10I	ENSP00000323557:N10I	N	-	2	0	BRD9	942786	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.385000	0.01062	-3.868000	0.00097	-0.490000	0.04691	AAT	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354113.1		-	ENST00000467963.1	Intron	SNP	5 : 889786 - 889786 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	291	5
CADM1	23705	broad.mit.edu	37	11	115109255	115109255	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr11:115109255G>A	ENST00000452722.3	-	3	409	c.389C>T	c.(388-390)cCc>cTc	p.P130L	CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Missense_Mutation_p.P130L|CADM1_ENST00000537058.1_Missense_Mutation_p.P130L|CADM1_ENST00000542447.2_Missense_Mutation_p.P130L|CADM1_ENST00000331581.6_Missense_Mutation_p.P130L	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	NA	Ig-like V-type.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TTCCTGTGGGGGATCGGTATA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	141	143			NA	NA	11		NA											NA				115109255		2201	4296	6497	SO:0001583	missense			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985	23705	23705		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5951	protein-coding gene	gene with protein product	nectin-like 2	605686	tumor suppressor in lung cancer 1, immunoglobulin superfamily, member 4	TSLC1, IGSF4	NA	10610705	Standard	NM_014333	NM_014333	NA	Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.389C>T	11.37:g.115109255G>A	ENSP00000395359:p.Pro130Leu	NA	Q86WB8|Q8N2F4	37	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.670276|4.670276	0.88348|0.88348	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000545094|ENST00000543249	D;D;D;D;D;D|D	0.83506|0.83419	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73|-1.72	5.38|5.38	5.38|5.38	0.77491|0.77491	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.87497|0.87497	0.6192|0.6192	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.998;1.0|.	D;D;D;D;D|.	0.97110|.	0.999;0.999;1.0;0.992;0.999|.	D|D	0.85876|0.85876	0.1419|0.1419	10|8	0.66056|0.41790	D|T	0.02|0.15	.|.	19.3366|19.3366	0.94322|0.94322	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	130;130;131;130;130|.	Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1|.	.;.;.;CADM1_HUMAN;.|.	L|S	130;130;130;130;89;130;97|114	ENSP00000439176:P130L;ENSP00000395359:P130L;ENSP00000439817:P130L;ENSP00000440322:P130L;ENSP00000329797:P130L;ENSP00000439696:P97L|ENSP00000442227:P114S	ENSP00000329797:P130L|ENSP00000442227:P114S	P|P	-|-	2|1	0|0	CADM1|CADM1	114614465|114614465	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	9.222000|9.222000	0.95196|0.95196	2.799000|2.799000	0.96334|0.96334	0.650000|0.650000	0.86243|0.86243	CCC|CCC	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398753.2		-	ENST00000452722.3	Missense_Mutation	SNP	11 : 115109255 - 115109255 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	608	12
CASC3	22794	broad.mit.edu	37	17	38324149	38324149	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:38324149G>A	ENST00000264645.7	+	10	1924	c.1698G>A	c.(1696-1698)ccG>ccA	p.P566P		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	566	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCCCTGCCCCGCTGCCTCCAC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	142	148			NA	NA	17		NA											NA				38324149		2203	4300	6503	SO:0001819	synonymous_variant			X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349	22794	22794			17040	protein-coding gene	gene with protein product		606504			NA	7490069, 18332872	Standard	NM_007359	NM_007359	NA	Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1698G>A	17.37:g.38324149G>A		NA	A8K8R0	37	CCDS11362.1																																																																																			CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257127.3		+	ENST00000264645.7	Silent	SNP	17 : 38324149 - 38324149 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	630	6
CCDC47	57003	broad.mit.edu	37	17	61833870	61833870	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:61833870G>A	ENST00000225726.5	-	7	1178	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W	CCDC47_ENST00000403162.3_Missense_Mutation_p.R266W|CCDC47_ENST00000582252.1_Missense_Mutation_p.R266W	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	266						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AAGGCTTTCCGTGTGCCAACA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	107	112			NA	NA	17		NA											NA				61833870		2203	4300	6503	SO:0001583	missense			AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588	57003	57003			24856	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_020198	NM_020198	NA	Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.796C>T	17.37:g.61833870G>A	ENSP00000225726:p.Arg266Trp	NA	B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	37	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054915	0.36277	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.77	5.77	0.91146	.	0.052964	0.64402	D	0.000001	T	0.69396	0.3106	L	0.52573	1.65	0.58432	D	0.999997	D;D	0.76494	0.998;0.999	P;D	0.66084	0.859;0.941	T	0.71087	-0.4694	9	0.87932	D	0	-10.161	14.4629	0.67465	0.0:0.0:0.8437:0.1562	.	266;266	Q96A33-2;Q96A33	.;CCD47_HUMAN	W	266	.	ENSP00000225726:R266W	R	-	1	2	CCDC47	59187602	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.753000	0.55180	2.730000	0.93505	0.655000	0.94253	CGG	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444016.2		-	ENST00000225726.5	Missense_Mutation	SNP	17 : 61833870 - 61833870 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	436	5
CCDC88C	440193	broad.mit.edu	37	14	91791261	91791261	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr14:91791261C>T	ENST00000389857.6	-	12	1290	c.1204G>A	c.(1204-1206)Gac>Aac	p.D402N		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	402					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TTATCTGTGTCCCGGTCCTGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	102	100			NA	NA	14		NA											NA				91791261		2021	4187	6208	SO:0001583	missense				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133	440193	440193			19967	protein-coding gene	gene with protein product	Dvl-associating protein with a high frequency of leucine residues, spinocerebellar ataxia 40	611204	KIAA1509	KIAA1509	NA	17185515, 25062847	Standard	XM_029353	NM_001080414	NA	Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.1204G>A	14.37:g.91791261C>T	ENSP00000374507:p.Asp402Asn	NA	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	37	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022353	0.93462	.	.	ENSG00000015133	ENST00000389857	T	0.57436	0.4	5.76	5.76	0.90799	.	0.000000	0.51477	U	0.000096	T	0.74756	0.3758	M	0.85041	2.73	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.78209	-0.2293	10	0.72032	D	0.01	-45.0551	14.7623	0.69614	0.1445:0.8555:0.0:0.0	.	402	Q9P219	DAPLE_HUMAN	N	402	ENSP00000374507:D402N	ENSP00000374507:D402N	D	-	1	0	CCDC88C	90861014	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.568000	0.67385	2.728000	0.93425	0.555000	0.69702	GAC	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411650.1		-	ENST00000389857.6	Missense_Mutation	SNP	14 : 91791261 - 91791261 T PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	257	5
CDH11	1009	broad.mit.edu	37	16	64981668	64981668	+	Silent	SNP	G	G	A	rs145843219	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr16:64981668G>A	ENST00000268603.4	-	13	2844	c.2229C>T	c.(2227-2229)taC>taT	p.Y743Y	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Silent_p.Y617Y	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	743					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTTCATAACCGTAGATTTGAA	0.537		NA	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16q22.1	1009	cadherin 11, type 2, OB-cadherin (osteoblast)		M	0								G		4,4402	8.1+/-20.4	0,4,2199	90	89	90		2229	-3	0.9	16	dbSNP_134	90	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	CDH11	NM_001797.2		0,13,6490	AA,AG,GG	NA	0.1047,0.0908,0.1		743/797	64981668	13,12993	2203	4300	6503	SO:0001819	synonymous_variant			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937	1009	1009		Cadherins / Major cadherins	1750	protein-coding gene	gene with protein product	OB-Cadherin	600023			NA	9615235	Standard	NM_033664	NM_001797	NA	Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2229C>T	16.37:g.64981668G>A		NA	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	37	CCDS10803.1																																																																																			CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268755.1		-	ENST00000268603.4	Silent	SNP	16 : 64981668 - 64981668 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	444	10
CHDH	55349	broad.mit.edu	37	3	53852140	53852140	+	Silent	SNP	C	C	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:53852140C>A	ENST00000315251.6	-	9	1886	c.1449G>T	c.(1447-1449)ggG>ggT	p.G483G		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	NA					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GGAGCTCTTTCCCTCGGAACG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	68	69			NA	NA	3		NA											NA				53852140		2203	4300	6503	SO:0001819	synonymous_variant			AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	55349	55349	1.1.99.1		24288	protein-coding gene	gene with protein product					NA		Standard	NM_018397	NM_018397	NA	Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.1449G>T	3.37:g.53852140C>A		NA	Q9NY17	37	CCDS2873.1																																																																																			CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350567.2		-	ENST00000315251.6	Silent	SNP	3 : 53852140 - 53852140 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	312	6
DCAF8L1	139425	broad.mit.edu	37	X	27998523	27998523	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chrX:27998523A>C	ENST00000441525.1	-	1	1043	c.929T>G	c.(928-930)gTt>gGt	p.V310G		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	310										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GGTGAACACAACGGCATCTTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	74	78			NA	NA	X		NA											NA				27998523		2202	4300	6502	SO:0001583	missense				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372	139425	139425		WD repeat domain containing	31810	protein-coding gene	gene with protein product			WD repeat domain 42B	WDR42B	NA		Standard	XM_066690	NM_001017930	NA	Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.929T>G	X.37:g.27998523A>C	ENSP00000405222:p.Val310Gly	NA	B3KXX1	37	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.975494	0.53720	.	.	ENSG00000226372	ENST00000441525	D	0.81499	-1.5	0.842	0.842	0.18927	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.80166	0.4573	M	0.85197	2.74	0.80722	D	1	P	0.37548	0.599	B	0.41412	0.356	T	0.76348	-0.2992	10	0.51188	T	0.08	-11.5024	5.6395	0.17557	0.9999:0.0:1.0E-4:0.0	.	310	A6NGE4	DC8L1_HUMAN	G	310	ENSP00000405222:V310G	ENSP00000405222:V310G	V	-	2	0	DCAF8L1	27908444	0.997000	0.39634	0.313000	0.25210	0.401000	0.30781	5.370000	0.66144	0.571000	0.29365	0.235000	0.17854	GTT	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056150.2		-	ENST00000441525.1	Missense_Mutation	SNP	X : 27998523 - 27998523 C PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	222	5
DRP2	1821	broad.mit.edu	37	X	100492764	100492764	+	Splice_Site	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chrX:100492764G>A	ENST00000395209.3	+	5	965	c.438G>A	c.(436-438)gcG>gcA	p.A146A	DRP2_ENST00000402866.1_Splice_Site_p.A146A|DRP2_ENST00000538510.1_Splice_Site_p.A146A|DRP2_ENST00000541709.1_Splice_Site_p.A68A	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	146					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						AGACACATGCGGTAGGTTAGA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,3835		0,0,1632,571	74	72	73		204,438	3.2	1	X		73	1,6727		0,1,2427,1872	no	coding-synonymous-near-splice,coding-synonymous-near-splice	DRP2	NM_001171184.1,NM_001939.2	,	0,1,4059,2443	AA,AG,GG,G	NA	0.0149,0.0,0.0095	,	68/880,146/958	100492764	1,10562	2203	4300	6503	SO:0001630	splice_region_variant			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385	1821	1821			3032	protein-coding gene	gene with protein product		300052			NA	8640231	Standard	NM_001939	NM_001939	NA	Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.438+1G>A	X.37:g.100492764G>A		NA	A6ZKI5|A8K1B0|B1B1F3	37	CCDS14480.2																																																																																			DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057522.3	Silent	+	ENST00000395209.3	Splice_Site	SNP	X : 100492764 - 100492764 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	177	4
FAM107A	11170	broad.mit.edu	37	3	58555477	58555477	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:58555477G>A	ENST00000447756.2	-	2	371	c.195C>T	c.(193-195)ccC>ccT	p.P65P	FAM107A_ENST00000360997.2_Silent_p.P37P|FAM107A_ENST00000394481.1_Silent_p.P37P|FAM107A_ENST00000464064.1_Silent_p.P37P|FAM107A_ENST00000474531.1_Silent_p.P68P			O95990	F107A_HUMAN	family with sequence similarity 107, member A	37					regulation of cell growth	nucleus	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		AGGCCTTCACGGGGTTCAGCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	69	68			NA	NA	3		NA											NA				58555477		2203	4300	6503	SO:0001819	synonymous_variant			AF089854	CCDS2892.1, CCDS63672.1, CCDS63673.1	3p14.2	2006-02-03			ENSG00000168309	ENSG00000168309	11170	11170			30827	protein-coding gene	gene with protein product		608295			NA	10564580, 10702698	Standard	NM_007177	XM_005264835	NA	Approved	DRR1, TU3A	uc003dkn.3	O95990	OTTHUMG00000159159	ENST00000447756.2:c.195C>T	3.37:g.58555477G>A		NA	Q96NH4	37																																																																																				FAM107A-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353584.1		-	ENST00000447756.2	Silent	SNP	3 : 58555477 - 58555477 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	302	8
FAM63A	55793	broad.mit.edu	37	1	150971955	150971955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:150971955C>T	ENST00000361936.5	-	8	1825	c.871G>A	c.(871-873)Gcg>Acg	p.A291T	FAM63A_ENST00000361738.6_Missense_Mutation_p.A339T|FAM63A_ENST00000312210.5_Missense_Mutation_p.A149T|FAM63A_ENST00000493834.2_Missense_Mutation_p.A196T|FAM63A_ENST00000470877.1_5'UTR	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	291							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGCTGGGCCGCGGTGGTCTCC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	140	141			NA	NA	1		NA											NA				150971955		2203	4300	6503	SO:0001583	missense			BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409	55793	55793			25648	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_018379	NM_001040217	NA	Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.871G>A	1.37:g.150971955C>T	ENSP00000354814:p.Ala291Thr	NA	B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|Q5SZF0|Q9NUL9|Q9P2F7	37	CCDS976.1	.	.	.	.	.	.	.	.	.	.	C	35	5.556802	0.96514	.	.	ENSG00000143409	ENST00000312210;ENST00000361936;ENST00000361738;ENST00000493834	T;T;T;T	0.54675	0.63;0.6;0.56;0.66	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.70072	0.3182	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.944;0.997	T	0.72846	-0.4169	10	0.56958	D	0.05	-20.127	16.156	0.81666	0.0:1.0:0.0:0.0	.	339;291	Q8N5J2-3;Q8N5J2	.;FA63A_HUMAN	T	149;291;339;196	ENSP00000310923:A149T;ENSP00000354814:A291T;ENSP00000354669:A339T;ENSP00000437174:A196T	ENSP00000310923:A149T	A	-	1	0	FAM63A	149238579	1.000000	0.71417	0.141000	0.22245	0.816000	0.46133	7.540000	0.82074	2.687000	0.91594	0.655000	0.94253	GCG	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411753.1		-	ENST00000361936.5	Missense_Mutation	SNP	1 : 150971955 - 150971955 T PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	747	20
GATAD2B	57459	broad.mit.edu	37	1	153800794	153800794	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:153800794G>A	ENST00000368655.4	-	2	273	c.30C>T	c.(28-30)cgC>cgT	p.R10R		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	10						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACAGATTCAAGCGAAGAGCAT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	82	81			NA	NA	1		NA											NA				153800794		2203	4300	6503	SO:0001819	synonymous_variant			AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614	57459	57459		GATA zinc finger domain containing	30778	protein-coding gene	gene with protein product	transcription repressor p66 beta component of the MeCP1 complex	614998			NA	10574461, 11756549	Standard	NM_020699	NM_020699	NA	Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.30C>T	1.37:g.153800794G>A		NA	D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	37	CCDS1054.1																																																																																			GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090305.1		-	ENST00000368655.4	Silent	SNP	1 : 153800794 - 153800794 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	618	39
GOLGA1	2800	broad.mit.edu	37	9	127650555	127650555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr9:127650555G>A	ENST00000373555.4	-	19	2215	c.1882C>T	c.(1882-1884)Cag>Tag	p.Q628*		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	628						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AGAAGTTGCTGCTCCAAGTCC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													338	288	305			NA	NA	9		NA											NA				127650555		2203	4300	6503	SO:0001587	stop_gained			U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935	2800	2800			4424	protein-coding gene	gene with protein product		602502	golgi autoantigen, golgin subfamily a, 1		NA	9324025	Standard	NM_002077	NM_002077	NA	Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1882C>T	9.37:g.127650555G>A	ENSP00000362656:p.Gln628*	NA	Q5T164|Q8IYZ9	37	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	G	41	8.756512	0.98941	.	.	ENSG00000136935	ENST00000373555	.	.	.	5.06	5.06	0.68205	.	0.000000	0.44285	D	0.000466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-8.953	17.7842	0.88532	0.0:0.0:1.0:0.0	.	.	.	.	X	628	.	ENSP00000362656:Q628X	Q	-	1	0	GOLGA1	126690376	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.487000	0.81328	2.523000	0.85059	0.442000	0.29010	CAG	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054049.1		-	ENST00000373555.4	Nonsense_Mutation	SNP	9 : 127650555 - 127650555 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	1344	24
GOLGA1	2800	broad.mit.edu	37	9	127650651	127650651	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr9:127650651G>A	ENST00000373555.4	-	19	2119	c.1786C>T	c.(1786-1788)Cct>Tct	p.P596S		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	596						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGGAACACAGGGTCCTGCATG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	149	161			NA	NA	9		NA											NA				127650651		2203	4300	6503	SO:0001583	missense			U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935	2800	2800			4424	protein-coding gene	gene with protein product		602502	golgi autoantigen, golgin subfamily a, 1		NA	9324025	Standard	NM_002077	NM_002077	NA	Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1786C>T	9.37:g.127650651G>A	ENSP00000362656:p.Pro596Ser	NA	Q5T164|Q8IYZ9	37	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	G	5.582	0.292267	0.10567	.	.	ENSG00000136935	ENST00000373555	T	0.20598	2.06	4.94	0.655	0.17839	.	1.145650	0.06646	N	0.761924	T	0.09774	0.0240	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37619	-0.9698	10	0.18710	T	0.47	0.154	5.4401	0.16504	0.2873:0.203:0.5096:0.0	.	596	Q92805	GOGA1_HUMAN	S	596	ENSP00000362656:P596S	ENSP00000362656:P596S	P	-	1	0	GOLGA1	126690472	0.003000	0.15002	0.002000	0.10522	0.519000	0.34347	0.484000	0.22308	0.214000	0.20742	0.289000	0.19496	CCT	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054049.1		-	ENST00000373555.4	Missense_Mutation	SNP	9 : 127650651 - 127650651 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	611	17
GPR179	440435	broad.mit.edu	37	17	36491506	36491506	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:36491506G>A	ENST00000342292.4	-	6	1394	c.1374C>T	c.(1372-1374)atC>atT	p.I458I		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	458						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGCCGTAGACGATGGCAAAAC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	82	79			NA	NA	17		NA											NA				36491506		2064	4223	6287	SO:0001819	synonymous_variant				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399	440435	440435		GPCR / Class C : Orphans	31371	protein-coding gene	gene with protein product		614515	GPR158-like 1, GPR179	GPR158L1	NA		Standard		NM_001004334	NA	Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1374C>T	17.37:g.36491506G>A		NA		37	CCDS42308.1																																																																																			GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255329.2		-	ENST00000342292.4	Silent	SNP	17 : 36491506 - 36491506 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	229	4
GRB14	2888	broad.mit.edu	37	2	165353909	165353909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:165353909G>A	ENST00000263915.3	-	10	1734	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V	GRB14_ENST00000543549.1_Missense_Mutation_p.A312V	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	399					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TTCTTCAACCGCAACTGAAAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	100	99			NA	NA	2		NA											NA				165353909		2203	4300	6503	SO:0001583	missense				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290	2888	2888		Pleckstrin homology (PH) domain containing, SH2 domain containing	4565	protein-coding gene	gene with protein product		601524			NA	8812444	Standard		XM_005246477	NA	Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1196C>T	2.37:g.165353909G>A	ENSP00000263915:p.Ala399Val	NA	Q7Z6I1	37	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400675	0.96030	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;T	0.39229	1.67;1.75;1.09	5.81	5.81	0.92471	BPS (Between PH and SH2) domain (1);	0.000000	0.85682	D	0.000000	T	0.67116	0.2859	M	0.79475	2.455	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.67900	0.954;0.954	T	0.68051	-0.5511	10	0.59425	D	0.04	-15.2997	20.0825	0.97783	0.0:0.0:1.0:0.0	.	312;399	B7Z7F9;Q14449	.;GRB14_HUMAN	V	399;312;354	ENSP00000263915:A399V;ENSP00000443699:A312V;ENSP00000416786:A354V	ENSP00000263915:A399V	A	-	2	0	GRB14	165062155	1.000000	0.71417	0.996000	0.52242	0.875000	0.50365	9.869000	0.99810	2.746000	0.94184	0.655000	0.94253	GCG	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255180.2		-	ENST00000263915.3	Missense_Mutation	SNP	2 : 165353909 - 165353909 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	559	6
IGF1R	3480	broad.mit.edu	37	15	99454671	99454671	+	Splice_Site	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:99454671G>A	ENST00000558762.1	+	7	2127		c.e7+1		IGF1R_ENST00000268035.6_Splice_Site			P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	NA					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ACAAGGAAGCGTGAGTTTCTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	141	147			NA	NA	15		NA											NA				99454671		2197	4297	6494	SO:0001630	splice_region_variant			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443	3480	3480		CD molecules, Fibronectin type III domain containing	5465	protein-coding gene	gene with protein product		147370			NA	1316909	Standard	NM_000875	XM_006720486	NA	Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000558762.1:c.1589+1G>A	15.37:g.99454671G>A		NA	B1B5Y2|Q14CV2|Q9UCC0	37		.	.	.	.	.	.	.	.	.	.	G	29.4	5.005527	0.93287	.	.	ENSG00000140443	ENST00000268035	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1313	0.98000	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IGF1R	97272194	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.778000	0.99011	2.837000	0.97791	0.655000	0.94253	.	IGF1R-002	NOVEL	NAGNAG_splice_site|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000415271.1	Intron	+	ENST00000558762.1	Splice_Site	SNP	15 : 99454671 - 99454671 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	344	9
INMT	11185	broad.mit.edu	37	7	30795239	30795239	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr7:30795239G>A	ENST00000013222.5	+	3	580	c.564G>A	c.(562-564)aaG>aaA	p.K188K	INMT_ENST00000409539.1_Silent_p.K187K|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	188						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CACTGCTCAAGCCGGGTGGCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	98	104			NA	NA	7		NA											NA				30795239		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	11185	11185	2.1.1.49		6069	protein-coding gene	gene with protein product		604854			NA	10552930	Standard	NM_006774	NM_001199219	NA	Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.564G>A	7.37:g.30795239G>A		NA	Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	37	CCDS5430.1																																																																																			INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214993.3		+	ENST00000013222.5	Silent	SNP	7 : 30795239 - 30795239 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	345	13
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	GRCh37	CM076251	KRAS	M	rs121913530						93	83	86			NA	NA	12		NA											NA				25398285		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.34G>C	12.37:g.25398285C>G	ENSP00000308495:p.Gly12Arg	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398285 - 25398285 G PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	355	15
KRT25	147183	broad.mit.edu	37	17	38907438	38907438	+	Silent	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:38907438C>T	ENST00000312150.4	-	4	870	c.810G>A	c.(808-810)gcG>gcA	p.A270A		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	270	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				ACCAGGCCTCCGCGTCCCTGC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	76	81			NA	NA	17		NA											NA				38907438		2203	4300	6503	SO:0001819	synonymous_variant			AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897	147183	147183		-, Intermediate filaments type I, keratins (acidic)	30839	protein-coding gene	gene with protein product			keratin 25A	KRT25A	NA	16831889	Standard	NM_181534	NM_181534	NA	Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.810G>A	17.37:g.38907438C>T		NA		37	CCDS11373.1																																																																																			KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257218.1		-	ENST00000312150.4	Silent	SNP	17 : 38907438 - 38907438 T PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	291	5
KRTAP21-1	337977	broad.mit.edu	37	21	32127654	32127654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr21:32127654C>T	ENST00000335093.3	-	1	92	c.43G>A	c.(43-45)Ggc>Agc	p.G15S		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	15			G -> S (in a breast cancer sample; somatic mutation).			intermediate filament		p.G15S(1)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						cagccacagccggagccatag	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	breast(1)											126	117	120			NA	NA	21		NA											NA				32127654		2203	4300	6503	SO:0001583	missense			AP001709	CCDS13606.1	21q22.1	2006-03-13			ENSG00000187005	ENSG00000187005	337977	337977		Keratin associated proteins	18945	protein-coding gene	gene with protein product					NA	12359730	Standard		NM_181619	NA	Approved	KAP21.1	uc011adi.2	Q3LI58	OTTHUMG00000057777	ENST00000335093.3:c.43G>A	21.37:g.32127654C>T	ENSP00000335566:p.Gly15Ser	NA		37	CCDS13606.1	.	.	.	.	.	.	.	.	.	.	C	8.706	0.910980	0.17833	.	.	ENSG00000187005	ENST00000335093	.	.	.	4.17	3.26	0.37387	.	.	.	.	.	T	0.57330	0.2046	.	.	.	0.23739	N	0.996979	D	0.89917	1.0	D	0.75020	0.985	T	0.40813	-0.9543	7	0.45353	T	0.12	.	9.2597	0.37605	0.2151:0.7849:0.0:0.0	.	15	Q3LI58	KR211_HUMAN	S	15	.	ENSP00000335566:G15S	G	-	1	0	KRTAP21-1	31049525	0.000000	0.05858	0.906000	0.35671	0.230000	0.25150	-0.171000	0.09883	1.293000	0.44690	0.609000	0.83330	GGC	KRTAP21-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128229.2		-	ENST00000335093.3	Missense_Mutation	SNP	21 : 32127654 - 32127654 T PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	723	15
LPL	4023	broad.mit.edu	37	8	19811679	19811679	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr8:19811679G>A	ENST00000311322.8	+	5	1060	c.590G>A	c.(589-591)cGt>cAt	p.R197H		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	197					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	GCCCCGAGTCGTCTTTCTCCT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM034045	LPL	M		G	HIS/ARG	0,4406		0,0,2203	135	130	131		590	6.2	1	8		131	1,8599	1.2+/-3.3	0,1,4299	no	missense	LPL	NM_000237.2	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	197/476	19811679	1,13005	2203	4300	6503	SO:0001583	missense				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	4023	4023	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD	NA		Standard		NM_000237	NA	Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.590G>A	8.37:g.19811679G>A	ENSP00000309757:p.Arg197His	NA	B2R5T9|Q16282|Q16283|Q96FC4	37	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778409	0.70107	0.0	1.16E-4	ENSG00000175445	ENST00000311322;ENST00000538071;ENST00000535763	D	0.93307	-3.2	6.17	6.17	0.99709	Lipase, N-terminal (1);	0.226102	0.47852	D	0.000212	D	0.96078	0.8722	M	0.76002	2.32	0.30091	N	0.808285	D	0.89917	1.0	D	0.76575	0.988	D	0.95786	0.8821	8	.	.	.	-23.5122	13.211	0.59825	0.0:0.0:0.8411:0.1589	.	197	P06858	LIPL_HUMAN	H	197;121;183	ENSP00000309757:R197H	.	R	+	2	0	LPL	19855959	0.996000	0.38824	0.997000	0.53966	0.428000	0.31595	3.031000	0.49728	2.941000	0.99782	0.655000	0.94253	CGT	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089113.3		+	ENST00000311322.8	Missense_Mutation	SNP	8 : 19811679 - 19811679 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	508	7
MCOLN1	57192	broad.mit.edu	37	19	7591452	7591452	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr19:7591452G>A	ENST00000264079.6	+	3	490	c.365G>A	c.(364-366)cGg>cAg	p.R122Q		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	122					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	p.R122L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCCTACACGCGGGAGCAGCTG	0.652		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	GLN/ARG	0,4406		0,0,2203	124	104	111		365	-4.2	0.6	19		111	1,8599	1.2+/-3.3	0,1,4299	no	missense	MCOLN1	NM_020533.2	43	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	122/581	7591452	1,13005	2203	4300	6503	SO:0001583	missense			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674	57192	57192		Voltage-gated ion channels / Transient receptor potential cation channels	13356	protein-coding gene	gene with protein product		605248			NA	16382100	Standard	NM_020533	NM_020533	NA	Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.365G>A	19.37:g.7591452G>A	ENSP00000264079:p.Arg122Gln	NA	D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	37	CCDS12180.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.949|6.949	0.544986|0.544986	0.13312|0.13312	0.0|0.0	1.16E-4|1.16E-4	ENSG00000090674|ENSG00000090674	ENST00000394321|ENST00000264079	.|T	.|0.44083	.|0.93	5.48|5.48	-4.19|-4.19	0.03835|0.03835	.|.	.|0.427403	.|0.27636	.|N	.|0.018482	T|T	0.08268|0.08268	0.0206|0.0206	N|N	0.00275|0.00275	-1.725|-1.725	0.24373|0.24373	N|N	0.994821|0.994821	B|B	0.15473|0.02656	0.013|0.0	B|B	0.09377|0.04013	0.004|0.001	T|T	0.42548|0.42548	-0.9445|-0.9445	8|10	0.87932|0.07325	D|T	0|0.83	.|.	11.4747|11.4747	0.50291|0.50291	0.7257:0.0:0.2743:0.0|0.7257:0.0:0.2743:0.0	.|.	9|122	Q9GZU1-2|Q9GZU1	.|MCLN1_HUMAN	R|Q	9|122	.|ENSP00000264079:R122Q	ENSP00000377856:G9R|ENSP00000264079:R122Q	G|R	+|+	1|2	0|0	MCOLN1|MCOLN1	7497452|7497452	1.000000|1.000000	0.71417|0.71417	0.649000|0.649000	0.29536|0.29536	0.893000|0.893000	0.52053|0.52053	3.092000|3.092000	0.50207|0.50207	-0.447000|-0.447000	0.07138|0.07138	-1.631000|-1.631000	0.00782|0.00782	GGG|CGG	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458974.2		+	ENST00000264079.6	Missense_Mutation	SNP	19 : 7591452 - 7591452 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	317	9
MECOM	2122	broad.mit.edu	37	3	168818719	168818719	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:168818719T>C	ENST00000464456.1	-	10	3412	c.2212A>G	c.(2212-2214)Aac>Gac	p.N738D	MECOM_ENST00000460814.1_Missense_Mutation_p.N738D|MECOM_ENST00000392736.3_Missense_Mutation_p.N747D|MECOM_ENST00000494292.1_Missense_Mutation_p.N926D|MECOM_ENST00000433243.2_Missense_Mutation_p.N748D|MECOM_ENST00000468789.1_Missense_Mutation_p.N747D|MECOM_ENST00000264674.3_Missense_Mutation_p.N812D|MECOM_ENST00000472280.1_Missense_Mutation_p.N748D	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CGTGTTAGGTTTGCAGACCTT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	82	83			NA	NA	3		NA											NA				168818719		2203	4300	6503	SO:0001583	missense			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276	2122	2122		Zinc fingers, C2H2-type	3498	protein-coding gene	gene with protein product		165215	myelodysplasia syndrome 1, ecotropic viral integration site 1	MDS1, EVI1	NA	2115646, 8171026, 8643684	Standard	NM_005241, NM_004991	NM_001105077	NA	Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2212A>G	3.37:g.168818719T>C	ENSP00000419770:p.Asn738Asp	NA	Q13466|Q6FH90	37	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.301710	0.60195	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.55	5.55	0.83447	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.15522	0.0374	N	0.16016	0.355	0.80722	D	1	D;P;D;D;D	0.76494	0.999;0.563;0.999;0.999;0.999	D;P;D;D;D	0.80764	0.993;0.502;0.994;0.988;0.981	T	0.14755	-1.0461	10	0.52906	T	0.07	-13.5136	15.7017	0.77547	0.0:0.0:0.0:1.0	.	935;739;926;812;747	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	D	812;747;738;748;926;747;738;748	ENSP00000264674:N812D;ENSP00000376493:N747D;ENSP00000419770:N738D;ENSP00000420048:N748D;ENSP00000417899:N926D;ENSP00000419995:N747D;ENSP00000420466:N738D;ENSP00000394302:N748D	ENSP00000264674:N812D	N	-	1	0	MECOM	170301413	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	8.040000	0.89188	2.096000	0.63516	0.528000	0.53228	AAC	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351519.1		-	ENST00000464456.1	Missense_Mutation	SNP	3 : 168818719 - 168818719 C PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	348	7
MGA	23269	broad.mit.edu	37	15	42041764	42041764	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:42041764G>T	ENST00000570161.1	+	16	5959	c.5959G>T	c.(5959-5961)Gag>Tag	p.E1987*	MGA_ENST00000566586.1_Nonsense_Mutation_p.E1778*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E1948*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E1778*|MGA_ENST00000219905.7_Nonsense_Mutation_p.E1987*			Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1948						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AATAAAAAGAGAGCAAGAAAC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	59	60			NA	NA	15		NA											NA				42041764		1849	4092	5941	SO:0001587	stop_gained			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197	23269	23269		MAX dimerization proteins, T-boxes	14010	protein-coding gene	gene with protein product			MAX gene associated		NA		Standard	NM_001164273.1	NM_001080541	NA	Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5959G>T	15.37:g.42041764G>T	ENSP00000457035:p.Glu1987*	NA	Q9H8R3|Q9H9N7|Q9UG69|Q9Y4E9	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011840	0.75046	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	4.89	2.96	0.34315	.	0.000000	0.45126	D	0.000382	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	5.9914	0.19465	0.1012:0.1952:0.7036:0.0	.	.	.	.	X	1987;1948;1778	.	ENSP00000219905:E1987X	E	+	1	0	MGA	39829056	1.000000	0.71417	0.994000	0.49952	0.636000	0.38137	2.731000	0.47343	1.383000	0.46405	0.563000	0.77884	GAG	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420229.1		+	ENST00000570161.1	Nonsense_Mutation	SNP	15 : 42041764 - 42041764 T PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	266	5
MGLL	11343	broad.mit.edu	37	3	127413957	127413957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:127413957G>A	ENST00000398101.3	-	5	1067	c.569C>T	c.(568-570)gCc>gTc	p.A190V	MGLL_ENST00000265052.5_Missense_Mutation_p.A226V|MGLL_ENST00000434178.2_Missense_Mutation_p.A216V|MGLL_ENST00000398104.1_Missense_Mutation_p.A216V|MGLL_ENST00000453507.2_Missense_Mutation_p.A196V|MGLL_ENST00000476682.1_5'UTR			Q99685	MGLL_HUMAN	monoglyceride lipase	216					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						CCGTGAGACGGCATTCAGCAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	59	57			NA	NA	3		NA											NA				127413957		2098	4218	6316	SO:0001583	missense			BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	11343	11343	3.1.1.23		17038	protein-coding gene	gene with protein product		609699			NA	9495531	Standard	NM_007283	NM_007283	NA	Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000398101.3:c.569C>T	3.37:g.127413957G>A	ENSP00000381173:p.Ala190Val	NA	Q96AA5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.690146|4.690146	0.88735|0.88735	.|.	.|.	ENSG00000074416|ENSG00000074416	ENST00000434178;ENST00000265052;ENST00000398104;ENST00000398101;ENST00000536024;ENST00000453507;ENST00000484451|ENST00000496306	T;T;T;T;T|.	0.68479|.	-0.33;-0.33;-0.33;-0.33;-0.33|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73164|0.73164	0.3552|0.3552	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D|.	0.76494|.	0.979;0.999;0.986;0.994|.	P;D;P;D|.	0.67548|.	0.751;0.952;0.789;0.923|.	T|T	0.72218|0.72218	-0.4357|-0.4357	10|5	0.31617|.	T|.	0.26|.	-40.9361|-40.9361	18.335|18.335	0.90285|0.90285	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	196;216;226;190|.	B7Z9D1;Q99685;B3KRC2;E7EWX8|.	.;MGLL_HUMAN;.;.|.	V|S	216;226;216;190;226;196;110|122	ENSP00000402798:A216V;ENSP00000265052:A226V;ENSP00000381176:A216V;ENSP00000381173:A190V;ENSP00000419340:A110V|.	ENSP00000265052:A226V|.	A|P	-|-	2|1	0|0	MGLL|MGLL	128896647|128896647	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.923000|0.923000	0.55619|0.55619	5.586000|5.586000	0.67503|0.67503	2.317000|2.317000	0.78254|0.78254	0.591000|0.591000	0.81541|0.81541	GCC|CCG	MGLL-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356720.1		-	ENST00000398101.3	Missense_Mutation	SNP	3 : 127413957 - 127413957 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	262	5
MMP21	118856	broad.mit.edu	37	10	127461268	127461268	+	Missense_Mutation	SNP	G	G	A	rs146859109		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr10:127461268G>A	ENST00000368808.3	-	3	748	c.749C>T	c.(748-750)gCa>gTa	p.A250V		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	250					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCAGGCGTGTGCAAACTCCTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	86	92			NA	NA	10		NA											NA				127461268		2203	4300	6503	SO:0001583	missense			AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485	118856	118856			14357	protein-coding gene	gene with protein product		608416	matrix metalloproteinase 21		NA	11255011	Standard		NM_147191	NA	Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.749C>T	10.37:g.127461268G>A	ENSP00000357798:p.Ala250Val	NA	Q5VZP9|Q8NG02	37	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195076	0.94960	.	.	ENSG00000154485	ENST00000368808	T	0.37058	1.22	4.51	4.51	0.55191	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.060133	0.64402	D	0.000004	T	0.70474	0.3228	H	0.95294	3.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.80555	-0.1330	10	0.87932	D	0	-15.8357	14.7847	0.69793	0.0:0.0:1.0:0.0	.	250	Q8N119	MMP21_HUMAN	V	250	ENSP00000357798:A250V	ENSP00000357798:A250V	A	-	2	0	MMP21	127451258	1.000000	0.71417	0.942000	0.38095	0.896000	0.52359	7.729000	0.84864	2.350000	0.79820	0.561000	0.74099	GCA	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050928.1		-	ENST00000368808.3	Missense_Mutation	SNP	10 : 127461268 - 127461268 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	210	4
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	95	96			NA	NA	19		NA											NA				9090831		2041	4195	6236	SO:0001819	synonymous_variant			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143	94025	94025		Mucins	15582	protein-coding gene	gene with protein product		606154			NA	11369781	Standard	NM_024690	XM_006722941	NA	Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G		NA	Q6ZQW5|Q96RK2	37	CCDS54212.1																																																																																			MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Silent	SNP	19 : 9090831 - 9090831 G PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	318	7
NAALAD2	10003	broad.mit.edu	37	11	89868837	89868837	+	Splice_Site	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr11:89868837C>T	ENST00000525171.1	+	2	223	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C	NAALAD2_ENST00000534061.1_Splice_Site_p.R65C|NAALAD2_ENST00000321955.4_Splice_Site_p.R65C|NAALAD2_ENST00000375944.3_Splice_Site_p.R65C			Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	65					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATCATTTCTTCGGTAAGTTTA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	87	87			NA	NA	11		NA											NA				89868837		2201	4299	6500	SO:0001630	splice_region_variant			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	10003	10003	3.4.17.21		14526	protein-coding gene	gene with protein product	glutamate carboxypeptidase III	611636			NA	10085079	Standard	NM_005467	NM_005467	NA	Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000525171.1:c.194+1C>T	11.37:g.89868837C>T		NA	B3KQR4|Q4VAM9	37		.	.	.	.	.	.	.	.	.	.	C	18.45	3.626242	0.66901	.	.	ENSG00000077616	ENST00000525497;ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T;T	0.50001	0.76;0.96;0.96;0.96;0.96;0.96	5.17	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.70090	0.3184	M	0.87617	2.895	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.98;0.98;0.965;0.997;0.98	T	0.74372	-0.3687	9	.	.	.	-6.1181	11.0386	0.47816	0.0:0.9137:0.0:0.0863	.	65;65;65;65;65	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	C	65;65;65;65;65;11	ENSP00000431989:R65C;ENSP00000432481:R65C;ENSP00000320083:R65C;ENSP00000435249:R65C;ENSP00000365111:R65C;ENSP00000435670:R11C	.	R	+	1	0	NAALAD2	89508485	0.998000	0.40836	1.000000	0.80357	0.783000	0.44284	1.650000	0.37292	1.425000	0.47237	0.644000	0.83932	CGT	NAALAD2-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394387.1	Missense_Mutation	+	ENST00000525171.1	Splice_Site	SNP	11 : 89868837 - 89868837 T PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	208	4
NARG2	0	broad.mit.edu	37	15	60720749	60720749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:60720749G>A	ENST00000261520.4	-	15	2933	c.2699C>T	c.(2698-2700)tCc>tTc	p.S900F	NARG2_ENST00000439632.1_Missense_Mutation_p.S763F	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN		900						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TGAGAGACTGGAAGGTACACC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	87	88			NA	NA	15		NA											NA				60720749		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000261520.4:c.2699C>T	15.37:g.60720749G>A	ENSP00000261520:p.Ser900Phe	NA	B2RU08|Q05CT1|Q3B7W6|Q63HP4|Q658Q0|Q68CN8|Q6IPW7|Q6UX23|Q71H65|Q96CY5|Q9HAA2	37	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467917	0.84533	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.96	5.96	0.96718	NMDA receptor-regulated gene protein 2 (1);	0.305688	0.36374	N	0.002621	T	0.67757	0.2927	L	0.44542	1.39	0.34937	D	0.749928	D	0.54397	0.966	P	0.58331	0.837	T	0.74945	-0.3491	9	0.87932	D	0	-3.8481	18.5997	0.91244	0.0:0.0:1.0:0.0	.	900	Q659A1	NARG2_HUMAN	F	900;763	.	ENSP00000261520:S900F	S	-	2	0	NARG2	58508041	1.000000	0.71417	0.998000	0.56505	0.770000	0.43624	6.152000	0.71812	2.831000	0.97527	0.650000	0.86243	TCC	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256136.1		-	ENST00000261520.4	Missense_Mutation	SNP	15 : 60720749 - 60720749 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	279	7
NCAPG	64151	broad.mit.edu	37	4	17844989	17844989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr4:17844989G>A	ENST00000251496.2	+	21	3165	c.2989G>A	c.(2989-2991)Gca>Aca	p.A997T	LCORL_ENST00000326877.4_3'UTR	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	997					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		AGCCAAAACCGCAGCACTAGA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	109	106			NA	NA	4		NA											NA				17844989		2203	4299	6502	SO:0001583	missense			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805	64151	64151			24304	protein-coding gene	gene with protein product	chromosome condensation protein G	606280			NA	10910072, 11136719	Standard	NM_022346	NM_022346	NA	Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2989G>A	4.37:g.17844989G>A	ENSP00000251496:p.Ala997Thr	NA	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	37	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029780	0.93518	.	.	ENSG00000109805	ENST00000251496	T	0.47869	0.83	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.67249	0.2873	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.65233	0.933	T	0.66850	-0.5819	10	0.59425	D	0.04	-20.6171	17.0447	0.86499	0.0:0.0:0.8724:0.1276	.	997	Q9BPX3	CND3_HUMAN	T	997	ENSP00000251496:A997T	ENSP00000251496:A997T	A	+	1	0	NCAPG	17454087	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.104000	0.41815	2.937000	0.99478	0.650000	0.86243	GCA	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250375.1		+	ENST00000251496.2	Missense_Mutation	SNP	4 : 17844989 - 17844989 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	626	7
NDUFAF7	55471	broad.mit.edu	37	2	37474607	37474607	+	Silent	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:37474607C>T	ENST00000002125.4	+	9	985	c.945C>T	c.(943-945)tgC>tgT	p.C315C	NDUFAF7_ENST00000336237.6_Silent_p.C217C	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	NA											NA						AGGGGTTTTGCGACCACAAGC	0.343		NA											c	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	4e-04	0.95	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								C	,	2,4404	4.2+/-10.8	0,2,2201	86	79	82		651,945	-1.4	1	2		82	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C2orf56	NM_001083946.1,NM_144736.4	,	0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154	,	217/344,315/442	37474607	2,13004	2203	4300	6503	SO:0001819	synonymous_variant				CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509	55471	55471		Mitochondrial respiratory chain complex assembly factors	28816	protein-coding gene	gene with protein product	mitochondrial dysfunction protein A homolog	615898	chromosome 2 open reading frame 56	C2orf56	NA		Standard	NM_144736	NM_144736	NA	Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.945C>T	2.37:g.37474607C>T		NA		37	CCDS1788.1																																																																																			NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250267.1		+	ENST00000002125.4	Silent	SNP	2 : 37474607 - 37474607 T PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	439	5
NEURL2	140825	broad.mit.edu	37	20	44517457	44517457	+	Silent	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr20:44517457C>T	ENST00000372518.4	-	2	1093	c.798G>A	c.(796-798)cgG>cgA	p.R266R		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	266	SOCS box.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CAATGGCCAGCCGGTGCACCA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	81	86			NA	NA	20		NA											NA				44517457		2203	4300	6503	SO:0001819	synonymous_variant			AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257	140825	140825			16156	protein-coding gene	gene with protein product		608597	chromosome 20 open reading frame 163, neuralized-like 2 (Drosophila), neuralized homolog 2 (Drosophila)	C20orf163	NA	12076535, 19723503	Standard		NM_001278535	NA	Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.798G>A	20.37:g.44517457C>T		NA	Q3KR34	37	CCDS13384.1																																																																																			NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079539.2		-	ENST00000372518.4	Silent	SNP	20 : 44517457 - 44517457 T PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	242	4
NSD1	64324	broad.mit.edu	37	5	176687011	176687011	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr5:176687011G>A	ENST00000439151.2	+	14	5033	c.4988G>A	c.(4987-4989)cGc>cAc	p.R1663H	NSD1_ENST00000347982.4_Missense_Mutation_p.R1394H|NSD1_ENST00000354179.4_Missense_Mutation_p.R1394H|NSD1_ENST00000361032.4_Missense_Mutation_p.R1560H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1663					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CGCTGTGTCCGCTGTCCTGTG	0.418		NA	T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													132	122	125			NA	NA	5		NA											NA				176687011		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671	64324	64324		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	14234	protein-coding gene	gene with protein product		606681	Sotos syndrome	STO	NA	9628876, 11896389	Standard	NM_172349	NM_022455	NA	Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4988G>A	5.37:g.176687011G>A	ENSP00000395929:p.Arg1663His	NA	Q96PD8|Q96RN7	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	35	5.530693	0.96446	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1	5.68	5.68	0.88126	Zinc finger, PHD-type (1);	0.000000	0.64402	D	0.000002	D	0.98065	0.9362	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.98376	1.0556	10	0.72032	D	0.01	.	20.14	0.98056	0.0:0.0:1.0:0.0	.	1394;1560;1663	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	H	1394;1663;1394;1560	ENSP00000346111:R1394H;ENSP00000395929:R1663H;ENSP00000343209:R1394H;ENSP00000354310:R1560H	ENSP00000343209:R1394H	R	+	2	0	NSD1	176619617	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.837000	0.97791	0.591000	0.81541	CGC	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253412.2		+	ENST00000439151.2	Missense_Mutation	SNP	5 : 176687011 - 176687011 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	590	6
PCNXL2	80003	broad.mit.edu	37	1	233152748	233152748	+	Silent	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:233152748C>T	ENST00000258229.9	-	27	4992	c.4758G>A	c.(4756-4758)ccG>ccA	p.P1586P	PCNXL2_ENST00000344698.2_Silent_p.P238P	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	NA						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCTGGAGACACGGGACGTAGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	129	130			NA	NA	1		NA											NA				233152748		1989	4163	6152	SO:0001819	synonymous_variant			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749	80003	80003			8736	protein-coding gene	gene with protein product			pecanex (Drosophila)-like 2		NA	12477932	Standard	NM_014801	NM_014801	NA	Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4758G>A	1.37:g.233152748C>T		NA	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	37	CCDS44335.1																																																																																			PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092480.3		-	ENST00000258229.9	Silent	SNP	1 : 233152748 - 233152748 T PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	400	10
PFAS	5198	broad.mit.edu	37	17	8172434	8172434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:8172434G>A	ENST00000314666.6	+	28	4002	c.3869G>A	c.(3868-3870)cGc>cAc	p.R1290H	PFAS_ENST00000545834.1_Missense_Mutation_p.R866H	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1290	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGTGATGGCCGCCACCTGGCT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	50	49			NA	NA	17		NA											NA				8172434		2203	4300	6503	SO:0001583	missense			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	5198	5198	6.3.5.3		8863	protein-coding gene	gene with protein product	FGAR amidotransferase	602133			NA	8110788	Standard		NM_012393	NA	Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3869G>A	17.37:g.8172434G>A	ENSP00000313490:p.Arg1290His	NA	A6H8V8	37	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261601	0.95368	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.51325	0.71;1.42	5.46	5.46	0.80206	Glutamine amidotransferase type 1 (1);	0.000000	0.85682	D	0.000000	T	0.76456	0.3990	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82561	-0.0396	10	0.87932	D	0	-18.6721	16.808	0.85710	0.0:0.0:1.0:0.0	.	1290	O15067	PUR4_HUMAN	H	866;1290;699	ENSP00000441706:R866H;ENSP00000313490:R1290H	ENSP00000313490:R1290H	R	+	2	0	PFAS	8113159	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.142000	0.94618	2.544000	0.85801	0.655000	0.94253	CGC	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226994.2		+	ENST00000314666.6	Missense_Mutation	SNP	17 : 8172434 - 8172434 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	314	5
PIAS2	9063	broad.mit.edu	37	18	44435568	44435568	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr18:44435568G>A	ENST00000585916.1	-	4	594	c.595C>T	c.(595-597)Cca>Tca	p.P199S	PIAS2_ENST00000324794.7_Missense_Mutation_p.P199S|PIAS2_ENST00000545673.1_5'UTR	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	199	PINIT.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CTACCACCTGGCAAAAAATCC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	64	64			NA	NA	18		NA											NA				44435568		2203	4300	6503	SO:0001583	missense			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043	9063	9063		Zinc fingers, MIZ-type	17311	protein-coding gene	gene with protein product	zinc finger, MIZ-type containing 4	603567			NA	9724754, 9256341	Standard	NM_004671	NM_004671	NA	Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.595C>T	18.37:g.44435568G>A	ENSP00000465676:p.Pro199Ser	NA	O75927|Q96BT5|Q96KE3	37	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.686884	0.48097	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000324794	T	0.32515	1.45	5.45	5.45	0.79879	PINIT domain (1);	0.000000	0.85682	D	0.000000	T	0.29061	0.0722	N	0.25245	0.725	0.80722	D	1	B;B;B;P	0.37500	0.24;0.106;0.357;0.597	B;B;B;B	0.42882	0.28;0.377;0.32;0.401	T	0.02603	-1.1135	10	0.22109	T	0.4	-2.7415	19.2762	0.94032	0.0:0.0:1.0:0.0	.	203;199;199;199	O75928-3;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	S	199;199;195;199	ENSP00000317163:P199S	ENSP00000262161:P199S	P	-	1	0	PIAS2	42689566	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.217000	0.95160	2.553000	0.86117	0.591000	0.81541	CCA	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445656.2		-	ENST00000585916.1	Missense_Mutation	SNP	18 : 44435568 - 44435568 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	226	4
PLB1	151056	broad.mit.edu	37	2	28826861	28826861	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:28826861C>T	ENST00000327757.5	+	40	2847	c.2803C>T	c.(2803-2805)Cgg>Tgg	p.R935W	PLB1_ENST00000422425.2_Missense_Mutation_p.R924W|PLB1_ENST00000541605.1_Intron	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	935	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCTGACCCTGCGGGAGAACTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	74	77			NA	NA	2		NA											NA				28826861		2203	4300	6503	SO:0001583	missense				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	151056	151056	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179			NA	12150957	Standard		NM_153021	NA	Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2803C>T	2.37:g.28826861C>T	ENSP00000330442:p.Arg935Trp	NA	A8KAX2|Q53S03|Q8IUP7|Q96DP9	37	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595327	0.66219	.	.	ENSG00000163803	ENST00000327757;ENST00000422425	T;T	0.14144	2.53;2.53	5.42	-2.49	0.06403	Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);	0.806235	0.10925	N	0.618969	T	0.29061	0.0722	M	0.74881	2.28	0.21878	N	0.999492	D;D	0.89917	1.0;1.0	D;D	0.85130	0.987;0.997	T	0.12785	-1.0534	10	0.66056	D	0.02	-9.4276	4.5013	0.11865	0.5745:0.2231:0.1199:0.0825	.	924;935	Q6P1J6-3;Q6P1J6	.;PLB1_HUMAN	W	935;924	ENSP00000330442:R935W;ENSP00000416440:R924W	ENSP00000330442:R935W	R	+	1	2	PLB1	28680365	0.000000	0.05858	0.022000	0.16811	0.993000	0.82548	-0.785000	0.04628	-0.179000	0.10654	0.555000	0.69702	CGG	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353348.2		+	ENST00000327757.5	Missense_Mutation	SNP	2 : 28826861 - 28826861 T PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	217	4
PPL	5493	broad.mit.edu	37	16	4935121	4935121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr16:4935121G>A	ENST00000345988.2	-	22	3624	c.3535C>T	c.(3535-3537)Cgg>Tgg	p.R1179W	PPL_ENST00000590782.2_Missense_Mutation_p.R1177W	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1179					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GGGTCTGGCCGCACGATCTCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	97	100			NA	NA	16		NA											NA				4935121		2197	4300	6497	SO:0001583	missense			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898	5493	5493			9273	protein-coding gene	gene with protein product		602871			NA	9570964, 9521878	Standard	NM_002705	NM_002705	NA	Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3535C>T	16.37:g.4935121G>A	ENSP00000340510:p.Arg1179Trp	NA	O60314|O60454|Q14C98	37	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222315	0.79464	.	.	ENSG00000118898	ENST00000345988	T	0.56941	0.43	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74520	0.3727	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76473	-0.2946	10	0.87932	D	0	.	19.7311	0.96182	0.0:0.0:1.0:0.0	.	1179	O60437	PEPL_HUMAN	W	1179	ENSP00000340510:R1179W	ENSP00000340510:R1179W	R	-	1	2	PPL	4875122	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	5.493000	0.66899	2.677000	0.91161	0.561000	0.74099	CGG	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251715.1		-	ENST00000345988.2	Missense_Mutation	SNP	16 : 4935121 - 4935121 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	400	5
PPP2R2C	5522	broad.mit.edu	37	4	6383543	6383543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr4:6383543G>A	ENST00000335585.5	-	1	54	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000382599.4_Intron|PPP2R2C_ENST00000506140.1_Intron|PPP2R2C_ENST00000515571.1_Intron|PPP2R2C_ENST00000314348.8_Intron	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	0					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TCCTGGATGGGCAAGTGTTTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	113	112			NA	NA	4		NA											NA				6383543		2203	4300	6503	SO:0001583	missense			AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	5522	5522	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits, WD repeat domain containing	9306	protein-coding gene	gene with protein product	PP2A subunit B isoform gamma	605997	protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform, protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform		NA	10574460, 10945473	Standard	NM_181876	NM_020416	NA	Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000335585.5:c.31C>T	4.37:g.6383543G>A	ENSP00000335083:p.Pro11Ser	NA	A8MSY7|Q7Z4V7|Q8NEC4|Q9H3G7	37	CCDS3388.1	.	.	.	.	.	.	.	.	.	.	G	2.380	-0.342224	0.05243	.	.	ENSG00000074211	ENST00000335585	T	0.28895	1.59	1.56	1.56	0.23342	.	.	.	.	.	T	0.12860	0.0312	.	.	.	0.20074	N	0.999932	B	0.02656	0.0	B	0.04013	0.001	T	0.32534	-0.9903	8	0.08179	T	0.78	.	6.5765	0.22569	0.0:0.0:1.0:0.0	.	11	Q9Y2T4-2	.	S	11	ENSP00000335083:P11S	ENSP00000335083:P11S	P	-	1	0	PPP2R2C	6434444	0.024000	0.19004	0.061000	0.19648	0.019000	0.09904	0.470000	0.22084	1.194000	0.43101	0.561000	0.74099	CCC	PPP2R2C-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206890.2		-	ENST00000335585.5	Missense_Mutation	SNP	4 : 6383543 - 6383543 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	487	7
PRSS16	10279	broad.mit.edu	37	6	27220639	27220639	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr6:27220639C>A	ENST00000230582.3	+	9	1076	c.1061C>A	c.(1060-1062)aCa>aAa	p.T354K	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.T97K	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	354					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CGAGCAGAGACAGTGGCACAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(178;1118 2105 17078 23587 44429)							NA				0													201	160	174			NA	NA	6		NA											NA				27220639		2203	4300	6503	SO:0001583	missense			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812	10279	10279		Serine peptidases / Serine peptidases	9480	protein-coding gene	gene with protein product		607169			NA	10527559	Standard		NM_005865	NA	Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1061C>A	6.37:g.27220639C>A	ENSP00000230582:p.Thr354Lys	NA	O75416	37	CCDS4623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.081016|4.081016	0.76528|0.76528	.|.	.|.	ENSG00000112812|ENSG00000112812	ENST00000485993;ENST00000475106|ENST00000421826;ENST00000230582;ENST00000343467	.|T;T	.|0.14391	.|2.51;2.51	4.41|4.41	4.41|4.41	0.53225|0.53225	.|.	.|0.320491	.|0.32624	.|N	.|0.005844	T|T	0.23926|0.23926	0.0579|0.0579	M|M	0.68952|0.68952	2.095|2.095	0.39874|0.39874	D|D	0.973543|0.973543	.|P;D;D;D	.|0.65815	.|0.77;0.991;0.995;0.991	.|P;D;D;P	.|0.78314	.|0.481;0.991;0.91;0.812	T|T	0.01042|0.01042	-1.1471|-1.1471	6|10	0.56958|0.29301	D|T	0.05|0.29	-1.3456|-1.3456	14.8717|14.8717	0.70462|0.70462	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|106;241;97;354	.|Q7Z5N6;C9JI59;F2Z2N5;Q9NQE7	.|.;.;.;TSSP_HUMAN	E|K	106;132|97;354;241	.|ENSP00000404349:T97K;ENSP00000230582:T354K	ENSP00000396589:D130E|ENSP00000230582:T354K	D|T	+|+	3|2	2|0	PRSS16|PRSS16	27328618|27328618	0.898000|0.898000	0.30612|0.30612	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	1.181000|1.181000	0.32017|0.32017	2.451000|2.451000	0.82905|0.82905	0.563000|0.563000	0.77884|0.77884	GAC|ACA	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043418.2		+	ENST00000230582.3	Missense_Mutation	SNP	6 : 27220639 - 27220639 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	469	10
PSD4	23550	broad.mit.edu	37	2	113940171	113940171	+	Silent	SNP	C	C	T	rs139939908		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:113940171C>T	ENST00000441564.3	+	2	307	c.138C>T	c.(136-138)ttC>ttT	p.F46F	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000245796.6_Silent_p.F46F			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	NA					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGGAGCCTTTCGAGGAGCAAA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	88	84	85		138	-3.2	0	2	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous	PSD4	NM_012455.2		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		46/1057	113940171	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637	23550	23550		Pleckstrin homology (PH) domain containing	19096	protein-coding gene	gene with protein product		614442			NA	12082148	Standard	NM_012455	XM_005263634	NA	Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000441564.3:c.138C>T	2.37:g.113940171C>T		NA	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	37																																																																																				PSD4-003	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000330791.3		+	ENST00000441564.3	Silent	SNP	2 : 113940171 - 113940171 T PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	245	6
PSMD4	5710	broad.mit.edu	37	1	151238835	151238835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:151238835G>A	ENST00000368884.3	+	8	895	c.815G>A	c.(814-816)cGc>cAc	p.R272H	PSMD4_ENST00000368881.4_Missense_Mutation_p.R275H	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	272					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTTTGGCCGCACTGGGCTT	0.547		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:0001583	missense			U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352	5710	5710		Proteasome (prosome, macropain) subunits	9561	protein-coding gene	gene with protein product		601648			NA	8641424	Standard	NM_002810	XM_005245354	NA	Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.815G>A	1.37:g.151238835G>A	ENSP00000357879:p.Arg272His	NA	D3DV16|Q5VWC5|Q9NS92	37	CCDS991.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098238	0.56183	.	.	ENSG00000159352	ENST00000368884;ENST00000368881	.	.	.	5.23	5.23	0.72850	.	0.227301	0.36303	N	0.002675	T	0.40522	0.1120	L	0.29908	0.895	0.42288	D	0.992129	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23583	-1.0184	9	0.42905	T	0.14	-14.4967	18.5873	0.91194	0.0:0.0:1.0:0.0	.	275;272	Q5VWC4;P55036	.;PSMD4_HUMAN	H	272;275	.	ENSP00000357876:R275H	R	+	2	0	PSMD4	149505459	0.972000	0.33761	0.659000	0.29680	0.998000	0.95712	3.889000	0.56212	2.716000	0.92895	0.655000	0.94253	CGC	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034409.3		+	ENST00000368884.3	Missense_Mutation	SNP	1 : 151238835 - 151238835 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	433	5
PSME4	23198	broad.mit.edu	37	2	54176304	54176304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:54176304G>A	ENST00000404125.1	-	2	414	c.359C>T	c.(358-360)gCc>gTc	p.A120V	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	120					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CAAAAGGCGGGCAAATCCCTG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	102	102			NA	NA	2		NA											NA				54176304		2203	4300	6503	SO:0001583	missense			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878	23198	23198		Proteasome (prosome, macropain) subunits	20635	protein-coding gene	gene with protein product		607705			NA	7584044, 12093752	Standard	XM_040158	NM_014614	NA	Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.359C>T	2.37:g.54176304G>A	ENSP00000384211:p.Ala120Val	NA	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	37	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984407	0.93044	.	.	ENSG00000068878	ENST00000404125	T	0.06768	3.26	5.06	5.06	0.68205	.	0.170005	0.51477	D	0.000094	T	0.15392	0.0371	M	0.83223	2.63	0.80722	D	1	P	0.42078	0.77	B	0.37550	0.253	T	0.14117	-1.0484	10	0.23891	T	0.37	.	18.799	0.92008	0.0:0.0:1.0:0.0	.	120	Q14997	PSME4_HUMAN	V	120	ENSP00000384211:A120V	ENSP00000374643:A120V	A	-	2	0	PSME4	54029808	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.882000	0.87258	2.494000	0.84150	0.655000	0.94253	GCC	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324163.1		-	ENST00000404125.1	Missense_Mutation	SNP	2 : 54176304 - 54176304 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	401	5
PTPRT	11122	broad.mit.edu	37	20	40827887	40827887	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr20:40827887G>A	ENST00000373198.4	-	17	2776	c.2541C>T	c.(2539-2541)aaC>aaT	p.N847N	PTPRT_ENST00000373193.3_Silent_p.N831N|PTPRT_ENST00000356100.2_Silent_p.N837N|PTPRT_ENST00000373201.1_Silent_p.N818N|PTPRT_ENST00000373184.1_Silent_p.N818N|PTPRT_ENST00000373190.1_Silent_p.N828N|PTPRT_ENST00000373187.1_Silent_p.N828N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	NA					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TACTGAATCCGTTGACGTCCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													383	383	383			NA	NA	20		NA											NA				40827887		2057	4199	6256	SO:0001819	synonymous_variant			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090	11122	11122		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	9682	protein-coding gene	gene with protein product		608712			NA	9486824, 9602027	Standard		NM_133170	NA	Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373198.4:c.2541C>T	20.37:g.40827887G>A		NA	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	37																																																																																				PTPRT-005	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000080318.2		-	ENST00000373198.4	Silent	SNP	20 : 40827887 - 40827887 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	2196	45
SH3BP1	23616	broad.mit.edu	37	22	38041378	38041378	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr22:38041378C>A	ENST00000357436.4	+	10	1098	c.785C>A	c.(784-786)tCc>tAc	p.S262Y	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Missense_Mutation_p.S198Y|SH3BP1_ENST00000442465.2_Missense_Mutation_p.S262Y|SH3BP1_ENST00000336738.5_Missense_Mutation_p.S262Y|SH3BP1_ENST00000495174.1_3'UTR	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	262	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GCAGACCACTCCCCTTCGATG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	88	90			NA	NA	22		NA											NA				38041378		2203	4300	6503	SO:0001583	missense				CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092	23616	23616		Rho GTPase activating proteins	10824	protein-coding gene	gene with protein product					NA	10591208, 12029088	Standard	NM_018957	NM_018957	NA	Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.785C>A	22.37:g.38041378C>A	ENSP00000350018:p.Ser262Tyr	NA	Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	37	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	C	7.442	0.640985	0.14386	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.18502	2.27;2.21;2.31	5.16	-0.934	0.10428	Rho GTPase-activating protein domain (1);BAR (1);	0.691929	0.13789	N	0.362651	T	0.08044	0.0201	N	0.22421	0.69	0.19300	N	0.999975	B;P;P;P;P	0.39964	0.164;0.553;0.697;0.553;0.553	B;B;B;B;B	0.35510	0.159;0.13;0.204;0.067;0.13	T	0.23511	-1.0186	10	0.72032	D	0.01	.	2.2795	0.04111	0.1207:0.4325:0.2355:0.2113	.	262;176;198;262;176	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	Y	262;262;262;176	ENSP00000350018:S262Y;ENSP00000337213:S262Y;ENSP00000395126:S262Y	ENSP00000337213:S262Y	S	+	2	0	SH3BP1	36371324	0.000000	0.05858	0.999000	0.59377	0.000000	0.00434	-0.425000	0.07017	0.269000	0.21961	-0.258000	0.10820	TCC	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075884.4		+	ENST00000357436.4	Missense_Mutation	SNP	22 : 38041378 - 38041378 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	365	8
SLC27A1	376497	broad.mit.edu	37	19	17611112	17611112	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr19:17611112G>A	ENST00000252595.7	+	8	1329	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	SLC27A1_ENST00000442725.1_Missense_Mutation_p.R411H|SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R232H|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	411	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTCAACAGCCGCATCCTGCCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	54	55			NA	NA	19		NA											NA				17611112		2203	4300	6503	SO:0001583	missense			BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304	376497	376497		Acyl-CoA synthetase family, Solute carriers	10995	protein-coding gene	gene with protein product		600691			NA	10873384	Standard	NM_198580	NM_198580	NA	Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1232G>A	19.37:g.17611112G>A	ENSP00000252595:p.Arg411His	NA	A6NIH2	37	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076236	0.55646	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.49432	0.78;0.78	4.55	2.24	0.28232	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	M	0.84511	2.7	0.58432	D	0.999997	B;P	0.38455	0.211;0.632	B;B	0.37989	0.117;0.262	T	0.34625	-0.9821	10	0.15952	T	0.53	-4.3707	6.518	0.22258	0.1:0.0:0.7209:0.179	.	232;411	B7Z662;Q6PCB7	.;S27A1_HUMAN	H	411	ENSP00000413424:R411H;ENSP00000252595:R411H	ENSP00000252595:R411H	R	+	2	0	SLC27A1	17472112	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.243000	0.78219	0.898000	0.36418	0.555000	0.69702	CGC	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464145.1		+	ENST00000252595.7	Missense_Mutation	SNP	19 : 17611112 - 17611112 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	316	6
SMAD4	4089	broad.mit.edu	37	18	48591901	48591901	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr18:48591901A>G	ENST00000588745.1	+	5	776	c.776A>G	c.(775-777)gAc>gGc	p.D259G	SMAD4_ENST00000342988.3_Missense_Mutation_p.D355G|SMAD4_ENST00000398417.2_Missense_Mutation_p.D355G			Q13485	SMAD4_HUMAN	SMAD family member 4	355					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.D355G(2)|p.D355A(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGATACGTGGACCCTTCTGGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				41	Whole gene deletion(36)|Substitution - Missense(3)|Unknown(2)	pancreas(27)|large_intestine(5)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)											216	180	192			NA	NA	18		NA											NA				48591901		2203	4300	6503	SO:0001583	missense			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646	4089	4089		SMADs	6770	protein-coding gene	gene with protein product		600993	MAD, mothers against decapentaplegic homolog 4 (Drosophila), SMAD, mothers against DPP homolog 4 (Drosophila)	MADH4	NA	8553070, 8774881	Standard	NM_005359	NM_005359	NA	Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000588745.1:c.776A>G	18.37:g.48591901A>G	ENSP00000464901:p.Asp259Gly	NA	A8K405	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.016245	0.93404	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98060	-4.69;-4.69	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98845	0.9610	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99777	1.1026	10	0.87932	D	0	.	15.2431	0.73485	1.0:0.0:0.0:0.0	.	355	Q13485	SMAD4_HUMAN	G	355	ENSP00000341551:D355G;ENSP00000381452:D355G	ENSP00000341551:D355G	D	+	2	0	SMAD4	46845899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.159000	0.94728	2.237000	0.73441	0.460000	0.39030	GAC	SMAD4-004	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449729.1		+	ENST00000588745.1	Missense_Mutation	SNP	18 : 48591901 - 48591901 G PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	411	18
SPTA1	6708	broad.mit.edu	37	1	158592861	158592861	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:158592861G>A	ENST00000368147.4	-	43	6212	c.6032C>T	c.(6031-6033)gCc>gTc	p.A2011V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.A2011V(6)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCAGAGCGGCATAACGCTC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				6	Substitution - Missense(6)	lung(4)|urinary_tract(1)|prostate(1)											267	267	267			NA	NA	1		NA											NA				158592861		1943	4143	6086	SO:0001583	missense			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	6708	6708		EF-hand domain containing	11272	protein-coding gene	gene with protein product	elliptocytosis 2	182860	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		NA		Standard	NM_003126	NM_003126	NA	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6032C>T	1.37:g.158592861G>A	ENSP00000357129:p.Ala2011Val	NA	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	9.476	1.096957	0.20552	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	4.78	0.669	0.17918	.	.	.	.	.	T	0.22859	0.0552	M	0.68952	2.095	0.30521	N	0.768424	B	0.23990	0.095	B	0.29267	0.1	T	0.14531	-1.0469	9	0.33940	T	0.23	.	5.4632	0.16627	0.1562:0.0:0.5633:0.2805	.	2011	P02549	SPTA1_HUMAN	V	2011;2008	ENSP00000357130:A2011V;ENSP00000357129:A2008V	ENSP00000357129:A2008V	A	-	2	0	SPTA1	156859485	1.000000	0.71417	0.002000	0.10522	0.000000	0.00434	4.149000	0.58091	-0.029000	0.13827	-0.140000	0.14226	GCC	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051851.3		-	ENST00000368147.4	Missense_Mutation	SNP	1 : 158592861 - 158592861 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	1595	11
TFPI2	7980	broad.mit.edu	37	7	93518519	93518519	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr7:93518519G>A	ENST00000222543.5	-	3	600	c.288C>T	c.(286-288)tgC>tgT	p.C96C	GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	96	BPTI/Kunitz inhibitor 2.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTTGCAGCCGGCAAACTTTGG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	69	66			NA	NA	7		NA											NA				93518519		2202	4299	6501	SO:0001819	synonymous_variant			L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825	7980	7980			11761	protein-coding gene	gene with protein product		600033			NA	7896752, 8945635	Standard	NM_006528	NM_006528	NA	Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.288C>T	7.37:g.93518519G>A		NA	Q66ME8|Q9UC86	37	CCDS5632.1																																																																																			TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254720.2		-	ENST00000222543.5	Silent	SNP	7 : 93518519 - 93518519 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	484	5
TFPT	29844	broad.mit.edu	37	19	54617951	54617951	+	Silent	SNP	A	A	G			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr19:54617951A>G	ENST00000391759.1	-	2	558	c.153T>C	c.(151-153)ggT>ggC	p.G51G	TFPT_ENST00000391757.1_Silent_p.G51G|TFPT_ENST00000391758.1_Silent_p.G42G	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	51					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					AGCCGCCCAGACCACCTGACA	0.637		NA	T	TCF3	pre-B ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19q13	29844	TCF3 (E2A) fusion partner (in childhood Leukemia)		L	0													115	125	122			NA	NA	19		NA											NA				54617951		2203	4300	6503	SO:0001819	synonymous_variant			AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619	29844	29844		INO80 complex subunits	13630	protein-coding gene	gene with protein product	amida, partner of the E2A, INO80 complex subunit F	609519			NA	10644725, 16230350	Standard	NM_013342	NM_013342	NA	Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.153T>C	19.37:g.54617951A>G		NA		37	CCDS12878.1																																																																																			TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141215.4		-	ENST00000391759.1	Silent	SNP	19 : 54617951 - 54617951 G PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	958	17
TMEM245	23731	broad.mit.edu	37	9	111822709	111822709	+	Silent	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr9:111822709C>T	ENST00000374586.3	-	11	1678	c.1647G>A	c.(1645-1647)aaG>aaA	p.K549K		NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN	transmembrane protein 245	549						integral to membrane					NA						TATTGTTCACCTTATCTCCTA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	126	126			NA	NA	9		NA											NA				111822709		1828	4081	5909	SO:0001819	synonymous_variant			AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771	23731	23731			1363	protein-coding gene	gene with protein product			chromosome 9 open reading frame 5	C9orf5	NA	10564813	Standard	NM_032012	NM_032012	NA	Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1647G>A	9.37:g.111822709C>T		NA	Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	37	CCDS43858.1	.	.	.	.	.	.	.	.	.	.	C	9.154	1.016895	0.19355	.	.	ENSG00000106771	ENST00000413712	.	.	.	6.05	1.75	0.24633	.	.	.	.	.	T	0.58308	0.2113	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52411	-0.8579	4	.	.	.	-13.5055	9.6538	0.39914	0.0:0.5978:0.0:0.4022	.	.	.	.	S	142	.	.	G	-	1	0	C9orf5	110862530	0.997000	0.39634	0.985000	0.45067	0.922000	0.55478	0.488000	0.22371	0.460000	0.27045	-0.143000	0.13931	GGT	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053587.2		-	ENST00000374586.3	Silent	SNP	9 : 111822709 - 111822709 T PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	660	8
UBN2	254048	broad.mit.edu	37	7	138969039	138969039	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr7:138969039C>T	ENST00000473989.3	+	15	3388	c.3388C>T	c.(3388-3390)Ccc>Tcc	p.P1130S	UBN2_ENST00000288561.8_Missense_Mutation_p.P1047S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	NA	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GAATTTATTGCCCTCTAGTCG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	74	74			NA	NA	7		NA											NA				138969039		1980	4159	6139	SO:0001583	missense			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741	254048	254048			21931	protein-coding gene	gene with protein product		613841			NA	19029251	Standard	NM_173569	NM_173569	NA	Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3388C>T	7.37:g.138969039C>T	ENSP00000418648:p.Pro1130Ser	NA	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	37	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027987	0.35797	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.36157	1.38;1.27	5.51	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	L	0.36672	1.1	0.41266	D	0.986812	P	0.38677	0.642	B	0.40982	0.345	T	0.06075	-1.0847	10	0.27785	T	0.31	-0.8259	12.5763	0.56365	0.0:0.8615:0.0:0.1385	.	1130	Q6ZU65	UBN2_HUMAN	S	1130;1047	ENSP00000418648:P1130S;ENSP00000288561:P1047S	ENSP00000288561:P1047S	P	+	1	0	UBN2	138619579	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.045000	0.41250	1.473000	0.48159	-0.259000	0.10710	CCC	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349272.3		+	ENST00000473989.3	Missense_Mutation	SNP	7 : 138969039 - 138969039 T PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	248	4
XPO4	64328	broad.mit.edu	37	13	21375026	21375026	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr13:21375026A>G	ENST00000255305.6	-	14	1992	c.1921T>C	c.(1921-1923)Ttt>Ctt	p.F641L	XPO4_ENST00000400602.2_Missense_Mutation_p.F641L			Q9C0E2	XPO4_HUMAN	exportin 4	641					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CGTTTTAAAAACCAAACAATA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	155	159			NA	NA	13		NA											NA				21375026		1821	4086	5907	SO:0001583	missense			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953	64328	64328		Exportins	17796	protein-coding gene	gene with protein product		611449			NA	11214970, 10944119	Standard	NM_022459	NM_022459	NA	Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1921T>C	13.37:g.21375026A>G	ENSP00000255305:p.Phe641Leu	NA	Q5VUZ5|Q8N3V6|Q9H934	37	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	A	31	5.062550	0.93898	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.63744	-0.06;-0.06	5.65	4.46	0.54185	Armadillo-type fold (1);	0.043532	0.85682	D	0.000000	T	0.72755	0.3500	M	0.68593	2.085	0.80722	D	1	P	0.52316	0.952	P	0.57911	0.829	T	0.74572	-0.3621	10	0.62326	D	0.03	-16.6373	12.8954	0.58095	0.8641:0.1359:0.0:0.0	.	641	Q9C0E2	XPO4_HUMAN	L	641;511;641	ENSP00000383444:F641L;ENSP00000255305:F641L	ENSP00000255305:F641L	F	-	1	0	XPO4	20273026	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.855000	0.92236	0.954000	0.37851	-0.316000	0.08728	TTT	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044096.1		-	ENST00000255305.6	Missense_Mutation	SNP	13 : 21375026 - 21375026 G PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	709	10
ZBTB20	26137	broad.mit.edu	37	3	114070605	114070605	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:114070605G>A	ENST00000462705.1	-	11	922	c.101C>T	c.(100-102)aCg>aTg	p.T34M	ZBTB20_ENST00000357258.3_Missense_Mutation_p.T34M|ZBTB20_ENST00000474710.1_Missense_Mutation_p.T107M|ZBTB20_ENST00000471418.1_Missense_Mutation_p.T34M|ZBTB20_ENST00000393785.2_Missense_Mutation_p.T34M|ZBTB20_ENST00000481632.1_Missense_Mutation_p.T34M|ZBTB20_ENST00000464560.1_Missense_Mutation_p.T34M	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T34M(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GATGCGCACCGTTACGTCACA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(69;748 1344 9802 11203 30933)							NA				1	Substitution - Missense(1)	endometrium(1)											56	56	56			NA	NA	3		NA											NA				114070605		2203	4300	6503	SO:0001583	missense			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722	26137	26137		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	13503	protein-coding gene	gene with protein product		606025	zinc finger protein 288	ZNF288	NA	10965110, 11352661	Standard	NM_015642	XM_005247339	NA	Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000462705.1:c.101C>T	3.37:g.114070605G>A	ENSP00000420324:p.Thr34Met	NA	Q63HP6|Q8N6R5|Q9Y410	37	CCDS2981.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286334	0.80803	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560;ENST00000470311	T;T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.98	5.98	0.97165	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.86527	0.5954	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87050	0.2146	10	0.87932	D	0	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	107	Q9HC78	ZBT20_HUMAN	M	34;34;34;34;107;34;34;34	ENSP00000420324:T34M;ENSP00000377375:T34M;ENSP00000418092:T34M;ENSP00000419902:T34M;ENSP00000419153:T107M;ENSP00000349803:T34M;ENSP00000417307:T34M;ENSP00000420684:T34M	ENSP00000349803:T34M	T	-	2	0	ZBTB20	115553295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.843000	0.97960	0.650000	0.86243	ACG	ZBTB20-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354954.1		-	ENST00000462705.1	Missense_Mutation	SNP	3 : 114070605 - 114070605 A PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	164	4
ZDHHC14	79683	broad.mit.edu	37	6	158049518	158049518	+	Splice_Site	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr6:158049518C>T	ENST00000359775.5	+	4	1592	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	ZDHHC14_ENST00000414563.2_Splice_Site_p.R235C|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	235						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGTCATTCTTCGTAAGTATGC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	155	152			NA	NA	6		NA											NA				158049518		2203	4296	6499	SO:0001630	splice_region_variant			AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048	79683	79683		Zinc fingers, DHHC-type	20341	protein-coding gene	gene with protein product					NA		Standard	NM_153746	NM_024630	NA	Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.703+1C>T	6.37:g.158049518C>T		NA	A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	37	CCDS5252.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874414	0.51695	.	.	ENSG00000175048	ENST00000359775;ENST00000414563;ENST00000538483	T;T	0.24723	1.84;1.84	5.56	5.56	0.83823	.	0.470158	0.24506	N	0.037940	T	0.15955	0.0384	L	0.41824	1.3	0.80722	D	1	B;B;B	0.28419	0.211;0.211;0.111	B;B;B	0.31547	0.086;0.132;0.03	T	0.02933	-1.1092	10	0.35671	T	0.21	-6.7738	19.5349	0.95247	0.0:1.0:0.0:0.0	.	239;235;235	A4FVA9;Q8IZN3;Q8IZN3-2	.;ZDH14_HUMAN;.	C	235;235;239	ENSP00000352821:R235C;ENSP00000410713:R235C	ENSP00000352821:R235C	R	+	1	0	ZDHHC14	157969506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.474000	0.53129	2.618000	0.88619	0.561000	0.74099	CGT	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042841.2	Missense_Mutation	+	ENST00000359775.5	Splice_Site	SNP	6 : 158049518 - 158049518 T PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	1917	39
ZNF366	167465	broad.mit.edu	37	5	71756620	71756620	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr5:71756620T>C	ENST00000318442.5	-	2	1194	c.704A>G	c.(703-705)aAc>aGc	p.N235S		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GATCTGCACGTTCACGTCCAC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	130	132			NA	NA	5		NA											NA				71756620		2203	4300	6503	SO:0001583	missense			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175	NA	167465		Zinc fingers, C2H2-type	18316	protein-coding gene	gene with protein product		610159			NA		Standard		NM_152625	NA	Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.704A>G	5.37:g.71756620T>C	ENSP00000313158:p.Asn235Ser	NA	Q7RTV4	37	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.608532	0.46527	.	.	ENSG00000178175	ENST00000318442	T	0.08370	3.1	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.08447	0.0210	L	0.42686	1.345	0.47276	D	0.999379	P	0.43750	0.816	B	0.32762	0.152	T	0.12268	-1.0554	10	0.45353	T	0.12	-66.6731	16.3979	0.83621	0.0:0.0:0.0:1.0	.	235	Q8N895	ZN366_HUMAN	S	235	ENSP00000313158:N235S	ENSP00000313158:N235S	N	-	2	0	ZNF366	71792376	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.472000	0.53114	2.279000	0.76181	0.459000	0.35465	AAC	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218574.3		-	ENST00000318442.5	Missense_Mutation	SNP	5 : 71756620 - 71756620 C PAAD-TCGA-IB-AAUR-Tumor-SM-5W7V3	503	11
