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
ANK1	286	broad.mit.edu	37	8	41573238	41573238	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr8:41573238G>A	ENST00000289734.7	-	14	1617	c.1534C>T	c.(1534-1536)Cgt>Tgt	p.R512C	ANK1_ENST00000396942.1_Missense_Mutation_p.R512C|ANK1_ENST00000352337.4_Missense_Mutation_p.R512C|ANK1_ENST00000379758.2_Missense_Mutation_p.R512C|ANK1_ENST00000265709.8_Missense_Mutation_p.R545C|ANK1_ENST00000347528.4_Missense_Mutation_p.R512C|ANK1_ENST00000396945.1_Missense_Mutation_p.R512C	NM_000037.3	NP_000028.3	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	512	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCCCTCACGGGCTGCAATG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	90	83	85		1534,1633,1534,1534,1534	6	1	8		85	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	180,180,180,180,180	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	512/1881,545/1898,512/1857,512/1882,512/1720	41573238	1,13005	2203	4300	6503	SO:0001583	missense			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534	286	286		Ankyrin repeat domain containing	492	protein-coding gene	gene with protein product		612641		ANK	NA	1689849	Standard	NM_020475	NM_001142445	NA	Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000289734.7:c.1534C>T	8.37:g.41573238G>A	ENSP00000289734:p.Arg512Cys	NA	A6NJ23|O43400|Q13768|Q59FP2|Q8N604|Q99407	37	CCDS6121.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162987	0.57476	2.27E-4	0.0	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	6.03	6.03	0.97812	Ankyrin repeat-containing domain (3);	0.059791	0.64402	D	0.000002	T	0.80565	0.4647	M	0.69185	2.1	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.703;0.997;1.0	D;D;B;P;D	0.79108	0.992;0.98;0.108;0.68;0.992	T	0.81284	-0.1002	10	0.87932	D	0	.	15.9973	0.80260	0.0:0.0:0.8649:0.1351	.	545;512;512;512;512	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	C	512;512;512;512;512;512;545;512	ENSP00000339620:R512C;ENSP00000289734:R512C;ENSP00000369082:R512C;ENSP00000380149:R512C;ENSP00000380147:R512C;ENSP00000309131:R512C;ENSP00000265709:R545C	ENSP00000265709:R545C	R	-	1	0	ANK1	41692395	1.000000	0.71417	0.997000	0.53966	0.139000	0.21198	5.396000	0.66297	2.868000	0.98415	0.555000	0.69702	CGT	ANK1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317298.1		-	ENST00000289734.7	Missense_Mutation	SNP	8 : 41573238 - 41573238 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	354	37
ANK3	288	broad.mit.edu	37	10	61831534	61831534	+	Silent	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:61831534G>A	ENST00000280772.2	-	37	9296	c.9105C>T	c.(9103-9105)tgC>tgT	p.C3035C	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	NA					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CGAGAGGTGGGCATAAACCTA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	87	85			NA	NA	10		NA											NA				61831534		2203	4300	6503	SO:0001819	synonymous_variant			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150	288	288		Ankyrin repeat domain containing	494	protein-coding gene	gene with protein product	ankyrin-3, node of Ranvier, ankyrin-G	600465			NA	7665168	Standard	NM_020987	NM_020987	NA	Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9105C>T	10.37:g.61831534G>A		NA	Q5VXD5	37	CCDS7258.1																																																																																			ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048201.4		-	ENST00000280772.2	Silent	SNP	10 : 61831534 - 61831534 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	553	6
ARHGAP10	79658	broad.mit.edu	37	4	148802993	148802993	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr4:148802993A>G	ENST00000336498.3	+	10	1183	c.944A>G	c.(943-945)gAc>gGc	p.D315G		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	315	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTGCAGGGGGACGGAGAGGTG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	144	145			NA	NA	4		NA											NA				148802993		2203	4300	6503	SO:0001583	missense			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205	79658	79658		Rho GTPase activating proteins	26099	protein-coding gene	gene with protein product		609746			NA	8288572	Standard	NM_024605	NM_024605	NA	Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.944A>G	4.37:g.148802993A>G	ENSP00000336923:p.Asp315Gly	NA	A1L0S5|Q2VPC4|Q2VPC5|Q96EV3|Q96S75	37	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368824	0.24771	.	.	ENSG00000071205	ENST00000336498	T	0.40756	1.02	4.94	4.94	0.65067	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.053409	0.85682	D	0.000000	T	0.38692	0.1050	L	0.56769	1.78	0.80722	D	1	B	0.31026	0.304	B	0.29077	0.098	T	0.19257	-1.0311	10	0.19590	T	0.45	.	14.2898	0.66270	1.0:0.0:0.0:0.0	.	315	A1A4S6	RHG10_HUMAN	G	315	ENSP00000336923:D315G	ENSP00000336923:D315G	D	+	2	0	ARHGAP10	149022443	1.000000	0.71417	0.826000	0.32828	0.073000	0.16967	8.306000	0.89962	1.853000	0.53794	0.482000	0.46254	GAC	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365005.1		+	ENST00000336498.3	Missense_Mutation	SNP	4 : 148802993 - 148802993 G PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	429	7
C12orf55	0	broad.mit.edu	37	12	97102439	97102439	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:97102439C>T	ENST00000524981.4	+	48	6605	c.6582C>T	c.(6580-6582)ggC>ggT	p.G2194G							NA											NA						TTACAATTGGCCAACCACATC	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	81	81			NA	NA	12		NA											NA				97102439		2203	4299	6502	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000524981.4:c.6582C>T	12.37:g.97102439C>T		NA		37																																																																																				C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000395046.4		+	ENST00000524981.4	Silent	SNP	12 : 97102439 - 97102439 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	411	5
CACNA1S	779	broad.mit.edu	37	1	201079298	201079298	+	Silent	SNP	G	G	A	rs112868209	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:201079298G>A	ENST00000362061.3	-	2	478	c.252C>T	c.(250-252)ctC>ctT	p.L84L	CACNA1S_ENST00000367338.3_Silent_p.L84L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	84					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TTACCAGGCCGAGGTTCAGAG	0.607		NA											G	15	0.01	0.03	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0069	1	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								G		71,4335	64.7+/-102.0	2,67,2134	170	133	145		252	-9.7	0.7	1	dbSNP_132	145	0,8600		0,0,4300	no	coding-synonymous	CACNA1S	NM_000069.2		2,67,6434	AA,AG,GG	NA	0.0,1.6114,0.5459		84/1874	201079298	71,12935	2203	4300	6503	SO:0001819	synonymous_variant			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248	779	779		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3	NA	7916735, 16382099	Standard	NM_000069	NM_000069	NA	Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.252C>T	1.37:g.201079298G>A		NA	A4IF51|B1ALM2|Q12896|Q13934	37	CCDS1407.1																																																																																			CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087049.1		-	ENST00000362061.3	Silent	SNP	1 : 201079298 - 201079298 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	328	40
CCDC43	124808	broad.mit.edu	37	17	42757964	42757964	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:42757964C>T	ENST00000588210.1	-	4	494	c.485G>A	c.(484-486)gGt>gAt	p.G162D	CCDC43_ENST00000315286.8_Missense_Mutation_p.G159D|CCDC43_ENST00000457422.2_Intron|C17orf104_ENST00000588805.1_Intron			Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	159										lung(2)	2		Prostate(33;0.0322)				TTTGTCAGAACCAATGTTCAT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	190	191			NA	NA	17		NA											NA				42757964		1950	4161	6111	SO:0001583	missense			AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16					124808	124808			26472	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144609	NM_001099225	NA	Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000588210.1:c.485G>A	17.37:g.42757964C>T	ENSP00000467630:p.Gly162Asp	NA	C9JVK9	37		.	.	.	.	.	.	.	.	.	.	C	17.56	3.418900	0.62622	.	.	ENSG00000180329	ENST00000315286	.	.	.	6.06	6.06	0.98353	.	0.509221	0.21926	N	0.067089	T	0.57080	0.2029	L	0.41710	1.295	0.39483	D	0.967924	B	0.18610	0.029	B	0.13407	0.009	T	0.51325	-0.8720	9	0.42905	T	0.14	-9.135	18.4128	0.90558	0.0:1.0:0.0:0.0	.	159	Q96MW1	CCD43_HUMAN	D	159	.	ENSP00000323782:G159D	G	-	2	0	CCDC43	40113490	0.314000	0.24563	0.994000	0.49952	0.936000	0.57629	1.807000	0.38902	2.880000	0.98712	0.650000	0.86243	GGT	CCDC43-002	NOVEL	non_canonical_U12|basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000457813.1		-	ENST00000588210.1	Missense_Mutation	SNP	17 : 42757964 - 42757964 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	519	6
CD1E	913	broad.mit.edu	37	1	158325907	158325907	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:158325907C>T	ENST00000368160.3	+	4	904				CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000434258.1_Silent_p.L304L|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368167.3_Intron|CD1E_ENST00000368155.3_Intron	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	NA					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGAGAAACAGCTGAGGCTCTG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	41	39			NA	NA	1		NA											NA				158325907		2203	4300	6503	SO:0001627	intron_variant			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488	913	913		CD molecules, Immunoglobulin superfamily / C1-set domain containing	1638	protein-coding gene	gene with protein product		188411	CD1E antigen, e polypeptide, CD1e antigen		NA	10948205	Standard	NM_030893	NM_001042585	NA	Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368160.3:c.904+12C>T	1.37:g.158325907C>T		NA	B4DZV3|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	37	CCDS41418.1																																																																																			CD1E-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046357.2		+	ENST00000368160.3	Intron	SNP	1 : 158325907 - 158325907 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	227	31
COG6	57511	broad.mit.edu	37	13	40293931	40293931	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr13:40293931C>A	ENST00000416691.1	+	15	1651	c.1551C>A	c.(1549-1551)ttC>ttA	p.F517L	COG6_ENST00000455146.3_Missense_Mutation_p.F517L	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	517					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TATTTGAATTCACTGACAGAC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	88	90			NA	NA	13		NA											NA				40293931		2203	4299	6502	SO:0001583	missense			AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103	57511	57511		Components of oligomeric golgi complex	18621	protein-coding gene	gene with protein product		606977			NA	11980916	Standard		NM_020751	NA	Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000416691.1:c.1551C>A	13.37:g.40293931C>A	ENSP00000403733:p.Phe517Leu	NA	Q5T0U1|Q6AI19|Q86V49|Q9ULT5	37	CCDS45042.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534911	0.85812	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000455146	T;T	0.56275	0.47;0.47	5.36	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.85777	2.775	0.80722	D	1	D;D	0.67145	0.996;0.985	D;P	0.63381	0.914;0.873	T	0.70722	-0.4794	10	0.41790	T	0.15	-31.3845	10.4589	0.44567	0.0:0.8468:0.0:0.1532	.	538;517	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	L	517;548;517	ENSP00000403733:F517L;ENSP00000397441:F517L	ENSP00000255468:F548L	F	+	3	2	COG6	39191931	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.407000	0.34657	2.661000	0.90470	0.655000	0.94253	TTC	COG6-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044621.2		+	ENST00000416691.1	Missense_Mutation	SNP	13 : 40293931 - 40293931 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	503	61
CPNE2	221184	broad.mit.edu	37	16	57157386	57157386	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:57157386G>A	ENST00000535318.2	+	11	1288		c.e11+1		CPNE2_ENST00000290776.8_Splice_Site|CPNE2_ENST00000537605.1_Splice_Site|CPNE2_ENST00000565874.1_Splice_Site			Q96FN4	CPNE2_HUMAN	copine II	NA										central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CATGTTCACCGTAAGGCTCTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	96	102			NA	NA	16		NA											NA				57157386		2198	4300	6498	SO:0001630	splice_region_variant				CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848	221184	221184			2315	protein-coding gene	gene with protein product		604206			NA	9430674	Standard	NM_152727	NM_152727	NA	Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.927+1G>A	16.37:g.57157386G>A		NA	Q68D19|Q86XP9	37	CCDS10774.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493625	0.64186	.	.	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6008	0.91247	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPNE2	55714887	1.000000	0.71417	0.998000	0.56505	0.670000	0.39368	9.789000	0.99068	2.456000	0.83038	0.561000	0.74099	.	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432986.2	Intron	+	ENST00000535318.2	Splice_Site	SNP	16 : 57157386 - 57157386 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	285	5
DMD	1756	broad.mit.edu	37	X	32867854	32867854	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chrX:32867854C>T	ENST00000357033.4	-	3	383	c.177G>A	c.(175-177)ggG>ggA	p.G59G	DMD_ENST00000378677.2_Silent_p.G55G|DMD_ENST00000288447.4_Silent_p.G51G	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	59	Actin-binding.|CH 1.		Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCAGTTTTTGCCCTGTCAGGC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	69	71			NA	NA	X		NA											NA				32867854		2202	4300	6502	SO:0001819	synonymous_variant			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947	1756	1756			2928	protein-coding gene	gene with protein product	muscular dystrophy, Duchenne and Becker types	300377	dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, mental retardation, X-linked 85	MRX85	NA	3282674, 3607877, 23900271	Standard	NM_004006	NM_004019	NA	Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.177G>A	X.37:g.32867854C>T		NA	Q02295|Q14169|Q14170|Q5JYU0|Q7KZ48|Q9UCW3|Q9UCW4	37	CCDS14233.1																																																																																			DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056182.2		-	ENST00000357033.4	Silent	SNP	X : 32867854 - 32867854 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	158	4
DST	667	broad.mit.edu	37	6	56469950	56469950	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:56469950G>A	ENST00000361203.3	-	36	8850	c.8843C>T	c.(8842-8844)tCg>tTg	p.S2948L	DST_ENST00000446842.2_Missense_Mutation_p.S2622L|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.S3126L|DST_ENST00000312431.6_Missense_Mutation_p.S2948L|DST_ENST00000370769.4_Missense_Mutation_p.S2948L|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	2948					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCTTCCCACGATGTAATGTC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	46	46			NA	NA	6		NA											NA				56469950		1867	4099	5966	SO:0001583	missense			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.8843C>T	6.37:g.56469950G>A	ENSP00000354508:p.Ser2948Leu	NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37		.	.	.	.	.	.	.	.	.	.	G	4.894	0.166106	0.09339	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.81499	0.01;0.01;0.96;-1.5;-0.0;-0.36	4.75	-3.65	0.04502	.	2.471330	0.02034	N	0.048788	T	0.53658	0.1810	.	.	.	0.24495	N	0.994285	B	0.06786	0.001	B	0.04013	0.001	T	0.49781	-0.8903	8	0.46703	T	0.11	.	11.9841	0.53135	0.4817:0.0:0.5183:0.0	.	2622	Q03001-9	.	L	3126;2948;2622;2948;2948;2622	ENSP00000359790:S3126L;ENSP00000359805:S2948L;ENSP00000393645:S2622L;ENSP00000307959:S2948L;ENSP00000354508:S2948L;ENSP00000404924:S2622L	ENSP00000307959:S2948L	S	-	2	0	DST	56577909	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.126000	0.10563	-0.441000	0.07201	-1.648000	0.00760	TCG	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000041021.3		-	ENST00000361203.3	Missense_Mutation	SNP	6 : 56469950 - 56469950 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	175	20
DST	667	broad.mit.edu	37	6	56469951	56469951	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:56469951A>T	ENST00000361203.3	-	36	8849	c.8842T>A	c.(8842-8844)Tcg>Acg	p.S2948T	DST_ENST00000446842.2_Missense_Mutation_p.S2622T|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.S3126T|DST_ENST00000312431.6_Missense_Mutation_p.S2948T|DST_ENST00000370769.4_Missense_Mutation_p.S2948T|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	2948					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTTCCCACGATGTAATGTCT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	46	46			NA	NA	6		NA											NA				56469951		1866	4099	5965	SO:0001583	missense			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.8842T>A	6.37:g.56469951A>T	ENSP00000354508:p.Ser2948Thr	NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37		.	.	.	.	.	.	.	.	.	.	A	7.748	0.702815	0.15172	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.82526	-0.1;-0.1;0.84;-1.62;-0.13;-0.49	4.44	-2.96	0.05547	.	2.471330	0.02034	N	0.048788	T	0.52338	0.1728	.	.	.	0.21473	N	0.999676	B	0.24721	0.11	B	0.24848	0.056	T	0.48692	-0.9013	8	0.36615	T	0.2	.	5.9227	0.19091	0.4464:0.3912:0.1624:0.0	.	2622	Q03001-9	.	T	3126;2948;2622;2948;2948;2622	ENSP00000359790:S3126T;ENSP00000359805:S2948T;ENSP00000393645:S2622T;ENSP00000307959:S2948T;ENSP00000354508:S2948T;ENSP00000404924:S2622T	ENSP00000307959:S2948T	S	-	1	0	DST	56577910	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.411000	0.21115	-0.581000	0.05937	-0.256000	0.11100	TCG	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000041021.3		-	ENST00000361203.3	Missense_Mutation	SNP	6 : 56469951 - 56469951 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	171	21
EGF	1950	broad.mit.edu	37	4	110909769	110909769	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr4:110909769G>A	ENST00000509793.1	+	17	2964	c.2512G>A	c.(2512-2514)Gtg>Atg	p.V838M	EGF_ENST00000265171.5_Missense_Mutation_p.V880M|EGF_ENST00000503392.1_Missense_Mutation_p.V880M	NM_001178131.1	NP_001171602.1	P01133	EGF_HUMAN	epidermal growth factor	880	EGF-like 6.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GGGTGTCCCAGTGTGCCCCCC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	173	172			NA	NA	4		NA											NA				110909769		2203	4300	6503	SO:0001583	missense			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798	1950	1950			3229	protein-coding gene	gene with protein product		131530	epidermal growth factor (beta-urogastrone)		NA		Standard		NM_001963	NA	Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000509793.1:c.2512G>A	4.37:g.110909769G>A	ENSP00000424316:p.Val838Met	NA	B4DRK7|E9PBF0|Q52LZ6	37	CCDS54795.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129552	0.37630	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;D;D	0.92199	1.97;-2.99;-2.99	5.25	3.48	0.39840	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.815723	0.11241	N	0.584665	D	0.88355	0.6414	N	0.25245	0.725	0.09310	N	1	P;P;P	0.51537	0.946;0.883;0.946	P;P;P	0.48840	0.592;0.456;0.592	T	0.79085	-0.1948	10	0.44086	T	0.13	.	9.6075	0.39643	0.0927:0.2322:0.6751:0.0	.	880;838;880	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	M	838;880;880	ENSP00000424316:V838M;ENSP00000265171:V880M;ENSP00000421384:V880M	ENSP00000265171:V880M	V	+	1	0	EGF	111129218	0.000000	0.05858	0.007000	0.13788	0.055000	0.15305	-0.548000	0.06048	1.206000	0.43276	0.655000	0.94253	GTG	EGF-002	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363798.2		+	ENST00000509793.1	Missense_Mutation	SNP	4 : 110909769 - 110909769 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	803	150
EGR3	1960	broad.mit.edu	37	8	22550452	22550452	+	Silent	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr8:22550452G>A	ENST00000317216.2	-	1	363	c.6C>T	c.(4-6)acC>acT	p.T2T	EGR3_ENST00000519492.1_Silent_p.T2T|RP11-459E5.1_ENST00000523627.1_RNA	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	2					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CGAGTTTGCCGGTCATAGCAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4406		0,0,2203	39	35	36		6	4	1	8		36	1,8599		0,1,4299	no	coding-synonymous	EGR3	NM_004430.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		2/388	22550452	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388	1960	1960		Zinc fingers, C2H2-type	3240	protein-coding gene	gene with protein product	zinc finger protein pilot	602419			NA	1906159, 11909874	Standard	NM_004430	NM_004430	NA	Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.6C>T	8.37:g.22550452G>A		NA	A8K8U9|Q2M3W2	37	CCDS6033.1																																																																																			EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215098.1		-	ENST00000317216.2	Silent	SNP	8 : 22550452 - 22550452 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	126	4
EPHB3	2049	broad.mit.edu	37	3	184294634	184294634	+	Silent	SNP	G	G	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:184294634G>T	ENST00000330394.2	+	5	1469	c.1017G>T	c.(1015-1017)gtG>gtT	p.V339V	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	339						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCACAGCCGTGCCATCTCCAC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	67	67			NA	NA	3		NA											NA				184294634		2202	4293	6495	SO:0001819	synonymous_variant			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580	2049	2049		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3394	protein-coding gene	gene with protein product		601839	EphB3	ETK2	NA	8397371	Standard	NM_004443	NM_004443	NA	Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1017G>T	3.37:g.184294634G>T		NA	Q7Z740	37	CCDS3268.1																																																																																			EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345413.1		+	ENST00000330394.2	Silent	SNP	3 : 184294634 - 184294634 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	232	32
FAM129A	116496	broad.mit.edu	37	1	184764871	184764871	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:184764871A>T	ENST00000367511.3	-	14	2220	c.2027T>A	c.(2026-2028)cTc>cAc	p.L676H	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	676					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGTGCCCGGGAGTCCTGCTGT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	56	59			NA	NA	1		NA											NA				184764871		2203	4300	6503	SO:0001583	missense			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842	116496	116496			16784	protein-coding gene	gene with protein product	cell growth inhibiting protein 39		chromosome 1 open reading frame 24	C1orf24	NA	15085203, 16444351	Standard		NM_052966	NA	Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2027T>A	1.37:g.184764871A>T	ENSP00000356481:p.Leu676His	NA	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	37	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.795937	0.31777	.	.	ENSG00000135842	ENST00000367511	T	0.10005	2.92	5.17	2.64	0.31445	.	0.972905	0.08410	N	0.950059	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	P	0.45827	0.867	B	0.41202	0.35	T	0.32214	-0.9915	10	0.41790	T	0.15	0.0338	7.1356	0.25527	0.209:0.1395:0.6516:0.0	.	676	Q9BZQ8	NIBAN_HUMAN	H	676	ENSP00000356481:L676H	ENSP00000356481:L676H	L	-	2	0	FAM129A	183031494	0.000000	0.05858	0.003000	0.11579	0.060000	0.15804	0.365000	0.20348	0.960000	0.38005	0.402000	0.26972	CTC	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085786.1		-	ENST00000367511.3	Missense_Mutation	SNP	1 : 184764871 - 184764871 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	289	32
FAT3	120114	broad.mit.edu	37	11	92532244	92532244	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr11:92532244C>A	ENST00000525166.1	+	9	5637	c.5615C>A	c.(5614-5616)cCa>cAa	p.P1872Q	FAT3_ENST00000298047.6_Missense_Mutation_p.P2022Q|FAT3_ENST00000409404.2_Missense_Mutation_p.P2022Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2022	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCTTAAACCCAGGAAATAAG	0.408		NA								TCGA Ovarian(4;0.039)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	75	75			NA	NA	11		NA											NA				92532244		1851	4093	5944	SO:0001583	missense			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323	120114	120114		Cadherins / Cadherin-related	23112	protein-coding gene	gene with protein product	cadherin-related family member 10	612483	FAT tumor suppressor homolog 3 (Drosophila)		NA	11811999	Standard	NM_001008781	NM_001008781	NA	Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000525166.1:c.5615C>A	11.37:g.92532244C>A	ENSP00000432586:p.Pro1872Gln	NA	B5MDB0|Q96AU6	37		.	.	.	.	.	.	.	.	.	.	C	15.37	2.813099	0.50527	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.49432	0.78;0.78;0.78	5.82	5.82	0.92795	.	.	.	.	.	T	0.36413	0.0966	L	0.32530	0.975	0.80722	D	1	P	0.35656	0.514	B	0.27715	0.082	T	0.31280	-0.9949	9	0.66056	D	0.02	.	14.8861	0.70570	0.1434:0.8566:0.0:0.0	.	2022	Q8TDW7-3	.	Q	2022;2022;1872	ENSP00000298047:P2022Q;ENSP00000387040:P2022Q;ENSP00000432586:P1872Q	ENSP00000298047:P2022Q	P	+	2	0	FAT3	92171892	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.778000	0.62368	2.760000	0.94817	0.655000	0.94253	CCA	FAT3-001	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000335363.3		+	ENST00000525166.1	Missense_Mutation	SNP	11 : 92532244 - 92532244 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	316	5
FOXC2	2303	broad.mit.edu	37	16	86602198	86602198	+	Silent	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:86602198G>A	ENST00000320354.4	+	1	1342	c.1257G>A	c.(1255-1257)gcG>gcA	p.A419A		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	419	Ala/Pro-rich.|Poly-Ala.				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ccgccgcggcGCAGGCGGCCT	0.756		NA							Late-onset Hereditary Lymphedema					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	9	8			NA	NA	16		NA											NA				86602198		2059	4069	6128	SO:0001819	synonymous_variant	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692	2303	2303		Forkhead boxes	3801	protein-coding gene	gene with protein product		602402		FKHL14	NA	9169153, 8674414	Standard	NM_005251	NM_005251	NA	Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.1257G>A	16.37:g.86602198G>A		NA	C6KMR9|Q14DA6	37	CCDS10958.1																																																																																			FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269104.2		+	ENST00000320354.4	Silent	SNP	16 : 86602198 - 86602198 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	68	11
GJA5	2702	broad.mit.edu	37	1	147230999	147230999	+	Missense_Mutation	SNP	C	C	G	rs150168016		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:147230999C>G	ENST00000271348.2	-	2	509	c.348G>C	c.(346-348)gaG>gaC	p.E116D	GJA5_ENST00000369237.1_Missense_Mutation_p.E116D	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	116					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			AGCCCCGGACCTCTTTGGCCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	69	69			NA	NA	1		NA											NA				147230999		2203	4300	6503	SO:0001583	missense				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107	2702	2702		Ion channels / Gap junction proteins (connexins)	4279	protein-coding gene	gene with protein product	connexin 40	121013	gap junction protein, alpha 5, 40kD (connexin 40), gap junction protein, alpha 5, 40kDa (connexin 40)		NA		Standard	NM_181703	NM_005266	NA	Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.348G>C	1.37:g.147230999C>G	ENSP00000271348:p.Glu116Asp	NA	Q5T3B6|Q5U0N6	37	CCDS929.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.432319	0.01108	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.97752	-4.46;-4.46;-4.52	5.47	2.17	0.27698	.	0.857393	0.10119	N	0.713656	D	0.86339	0.5909	N	0.16478	0.41	0.09310	N	0.999997	B	0.15141	0.012	B	0.17979	0.02	T	0.79694	-0.1696	10	0.14656	T	0.56	.	6.9223	0.24395	0.2411:0.5858:0.106:0.0671	.	116	P36382	CXA5_HUMAN	D	116	ENSP00000271348:E116D;ENSP00000358240:E116D;ENSP00000407645:E116D	ENSP00000271348:E116D	E	-	3	2	GJA5	145697623	0.363000	0.24989	0.121000	0.21740	0.021000	0.10359	0.607000	0.24209	0.660000	0.30964	-0.309000	0.09137	GAG	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039422.2		-	ENST00000271348.2	Missense_Mutation	SNP	1 : 147230999 - 147230999 G PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	458	124
GSG2	83903	broad.mit.edu	37	17	3629075	3629075	+	Nonsense_Mutation	SNP	C	C	T	rs143259437	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:3629075C>T	ENST00000325418.4	+	1	1865	c.1846C>T	c.(1846-1848)Cga>Tga	p.R616*	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	616	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity				NA						AGAGCAAATGCGAACCAAGTT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	101	102			NA	NA	17		NA											NA				3629075		2203	4300	6503	SO:0001587	stop_gained			AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602	83903	83903			19682	protein-coding gene	gene with protein product		609240			NA		Standard	NM_031965	NM_031965	NA	Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1846C>T	17.37:g.3629075C>T	ENSP00000325290:p.Arg616*	NA	Q5U5K3|Q96MN1|Q9BXS7	37	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	c	17.44	3.389675	0.61956	.	.	ENSG00000177602	ENST00000325418	.	.	.	4.7	2.4	0.29515	.	0.312616	0.27956	N	0.017167	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-35.8234	10.2856	0.43564	0.6793:0.3207:0.0:0.0	.	.	.	.	X	616	.	ENSP00000325290:R616X	R	+	1	2	GSG2	3575824	0.759000	0.28416	0.406000	0.26421	0.044000	0.14063	1.353000	0.34045	0.349000	0.23975	-0.259000	0.10710	CGA	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207391.1		+	ENST00000325418.4	Nonsense_Mutation	SNP	17 : 3629075 - 3629075 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	459	66
HMCN1	83872	broad.mit.edu	37	1	186086639	186086639	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:186086639A>T	ENST00000271588.4	+	77	11961	c.11732A>T	c.(11731-11733)cAt>cTt	p.H3911L	HMCN1_ENST00000367492.2_Missense_Mutation_p.H3911L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3911	Ig-like C2-type 38.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTAACCAAACATGCCCCAGCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	94	95			NA	NA	1		NA											NA				186086639		2203	4300	6503	SO:0001583	missense			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341	83872	83872		Fibulins, Immunoglobulin superfamily / I-set domain containing	19194	protein-coding gene	gene with protein product	fibulin 6	608548	age-related macular degeneration 1 (senile macular degeneration)	ARMD1	NA	11222143	Standard	NM_031935	NM_031935	NA	Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11732A>T	1.37:g.186086639A>T	ENSP00000271588:p.His3911Leu	NA	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.476078	0.01035	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66815	-0.23;-0.23	5.65	0.272	0.15645	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.499501	0.22254	N	0.062503	T	0.33469	0.0864	N	0.02736	-0.51	0.19945	N	0.999942	B	0.32753	0.383	B	0.34038	0.174	T	0.23013	-1.0200	10	0.23302	T	0.38	.	4.2131	0.10521	0.3639:0.0:0.305:0.3311	.	3911	Q96RW7	HMCN1_HUMAN	L	3911	ENSP00000271588:H3911L;ENSP00000356462:H3911L	ENSP00000271588:H3911L	H	+	2	0	HMCN1	184353262	0.139000	0.22563	0.011000	0.14972	0.269000	0.26545	1.675000	0.37555	0.088000	0.17205	0.533000	0.62120	CAT	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131848.1		+	ENST00000271588.4	Missense_Mutation	SNP	1 : 186086639 - 186086639 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	606	5
IFT88	8100	broad.mit.edu	37	13	21205194	21205194	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr13:21205194A>G	ENST00000319980.6	+	18	1693	c.1366A>G	c.(1366-1368)Aga>Gga	p.R456G	IFT88_ENST00000537103.1_Missense_Mutation_p.R428G|IFT88_ENST00000351808.5_Missense_Mutation_p.R447G|IFT88_ENST00000461115.1_3'UTR|IFT88_ENST00000382778.4_Missense_Mutation_p.R456G	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	456					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	p.R456G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAAGGACAGTAGAGTGAAAAG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											118	120	119			NA	NA	13		NA											NA				21205194		2203	4300	6503	SO:0001583	missense			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742	8100	8100		Intraflagellar transport homologs, Tetratricopeptide (TTC) repeat domain containing	20606	protein-coding gene	gene with protein product	polaris homolog	600595	tetratricopeptide repeat domain 10, intraflagellar transport 88 homolog (Chlamydomonas)	TTC10	NA	7633404	Standard	NM_006531	XM_005266546	NA	Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1366A>G	13.37:g.21205194A>G	ENSP00000323580:p.Arg456Gly	NA	A2A491|B4DUS2|Q5SZJ6|Q8N719	37	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.254980	0.59321	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.75938	-0.98;0.84;0.84;0.84	5.42	2.75	0.32379	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.76709	0.4025	M	0.72894	2.215	0.58432	D	0.999998	P;P;B;B	0.44734	0.842;0.756;0.243;0.376	P;B;B;B	0.47645	0.553;0.351;0.09;0.079	T	0.76498	-0.2937	10	0.39692	T	0.17	-17.5293	13.3327	0.60497	0.7395:0.2605:0.0:0.0	.	428;456;254;456	F5H6C2;E7EW86;Q6MZX0;Q13099	.;.;.;IFT88_HUMAN	G	456;319;447;456;428	ENSP00000372228:R456G;ENSP00000261632:R447G;ENSP00000323580:R456G;ENSP00000437719:R428G	ENSP00000323580:R456G	R	+	1	2	IFT88	20103194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.496000	0.35638	0.849000	0.35215	0.533000	0.62120	AGA	IFT88-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044075.3		+	ENST00000319980.6	Missense_Mutation	SNP	13 : 21205194 - 21205194 G PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	689	113
IRF2	3660	broad.mit.edu	37	4	185339858	185339858	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr4:185339858C>A	ENST00000393593.3	-	4	399	c.192G>T	c.(190-192)aaG>aaT	p.K64N	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	64					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CTGGTTGATGCTTTCCTAACA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	61	62			NA	NA	4		NA											NA				185339858		2203	4300	6503	SO:0001583	missense				CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310	3660	3660			6117	protein-coding gene	gene with protein product		147576			NA	2475256	Standard		NM_002199	NA	Approved		uc003iwf.4	P14316		ENST00000393593.3:c.192G>T	4.37:g.185339858C>A	ENSP00000377218:p.Lys64Asn	NA	Q96B99	37	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711954	0.68730	.	.	ENSG00000168310	ENST00000393593;ENST00000507523;ENST00000510814;ENST00000506230;ENST00000505316	D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83	5.26	5.26	0.73747	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.98529	0.9509	M	0.66297	2.02	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.98597	1.0657	10	0.87932	D	0	-8.3921	12.7922	0.57541	0.0:0.9154:0.0:0.0846	.	64	P14316	IRF2_HUMAN	N	64	ENSP00000377218:K64N;ENSP00000427204:K64N;ENSP00000424552:K64N;ENSP00000422860:K64N	ENSP00000377218:K64N	K	-	3	2	IRF2	185576852	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.950000	0.40323	2.740000	0.93945	0.561000	0.74099	AAG	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361393.1		-	ENST00000393593.3	Missense_Mutation	SNP	4 : 185339858 - 185339858 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	116	26
KBTBD2	25948	broad.mit.edu	37	7	32909811	32909811	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr7:32909811G>T	ENST00000304056.4	-	4	1717	c.1018C>A	c.(1018-1020)Ctt>Att	p.L340I	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	340										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			GCAGTCTGAAGTTTGCTTGTT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													214	200	205			NA	NA	7		NA											NA				32909811		2203	4300	6503	SO:0001583	missense			AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852	25948	25948		BTB/POZ domain containing	21751	protein-coding gene	gene with protein product			BTB and kelch domain containing 1	BKLHD1	NA	10819331	Standard	XM_291224	NM_015483	NA	Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1018C>A	7.37:g.32909811G>T	ENSP00000302586:p.Leu340Ile	NA	A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	37	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	G	3.828	-0.036369	0.07497	.	.	ENSG00000170852	ENST00000304056;ENST00000537125	T	0.67345	-0.26	5.65	1.87	0.25490	Kelch-type beta propeller (1);	0.248699	0.40554	N	0.001063	T	0.58293	0.2112	L	0.54323	1.7	0.41608	D	0.988898	B	0.06786	0.001	B	0.06405	0.002	T	0.52555	-0.8560	10	0.45353	T	0.12	.	10.35	0.43929	0.2573:0.0:0.7427:0.0	.	340	Q8IY47	KBTB2_HUMAN	I	340;147	ENSP00000302586:L340I	ENSP00000302586:L340I	L	-	1	0	KBTBD2	32876336	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.583000	0.46094	0.140000	0.18849	-0.339000	0.08088	CTT	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328890.1		-	ENST00000304056.4	Missense_Mutation	SNP	7 : 32909811 - 32909811 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	776	115
KCNH4	23415	broad.mit.edu	37	17	40318480	40318480	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:40318480C>A	ENST00000264661.3	-	10	2007	c.1675G>T	c.(1675-1677)Gca>Tca	p.A559S	KCNH4_ENST00000607371.1_Missense_Mutation_p.A559S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	559					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGCTCGCTGCCCCGAACAAC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(117;707 1703 2300 21308 31858)							NA				0													43	37	39			NA	NA	17		NA											NA				40318480		2203	4299	6502	SO:0001583	missense			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558	23415	23415		Potassium channels, Voltage-gated ion channels / Potassium channels	6253	protein-coding gene	gene with protein product		604528			NA	10455180, 16382104	Standard	NM_012285	NM_012285	NA	Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1675G>T	17.37:g.40318480C>A	ENSP00000264661:p.Ala559Ser	NA		37	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	9.884	1.202261	0.22121	.	.	ENSG00000089558	ENST00000264661	D	0.96459	-4.02	4.2	4.2	0.49525	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.39341	N	0.001385	D	0.85340	0.5674	N	0.03000	-0.44	0.39245	D	0.963924	B	0.14438	0.01	B	0.20184	0.028	T	0.79408	-0.1816	10	0.07325	T	0.83	.	4.9932	0.14226	0.0:0.7295:0.0:0.2705	.	559	Q9UQ05	KCNH4_HUMAN	S	559	ENSP00000264661:A559S	ENSP00000264661:A559S	A	-	1	0	KCNH4	37572006	0.174000	0.23070	0.998000	0.56505	0.556000	0.35491	0.088000	0.14979	2.182000	0.69389	0.563000	0.77884	GCA	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449791.2		-	ENST00000264661.3	Missense_Mutation	SNP	17 : 40318480 - 40318480 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	271	85
KIF27	55582	broad.mit.edu	37	9	86498835	86498835	+	Nonsense_Mutation	SNP	T	T	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr9:86498835T>A	ENST00000297814.2	-	10	2481	c.2338A>T	c.(2338-2340)Aag>Tag	p.K780*	KIF27_ENST00000376347.1_Nonsense_Mutation_p.K171*|KIF27_ENST00000334204.2_Nonsense_Mutation_p.K780*|KIF27_ENST00000413982.1_Nonsense_Mutation_p.K780*	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	780					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGTAGCTGCTTTTGTGTTTCA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	141	146			NA	NA	9		NA											NA				86498835		2203	4299	6502	SO:0001587	stop_gained			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115	55582	55582		Kinesins	18632	protein-coding gene	gene with protein product		611253			NA		Standard	NM_017576	NM_017576	NA	Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2338A>T	9.37:g.86498835T>A	ENSP00000297814:p.Lys780*	NA	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	37	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	T	40	8.370270	0.98781	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204;ENST00000376347	.	.	.	5.36	5.36	0.76844	.	0.093400	0.45126	D	0.000388	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3543	0.74415	0.0:0.0:0.0:1.0	.	.	.	.	X	780;780;780;171	.	ENSP00000297814:K780X	K	-	1	0	KIF27	85688655	1.000000	0.71417	0.992000	0.48379	0.954000	0.61252	3.791000	0.55469	2.022000	0.59522	0.477000	0.44152	AAG	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052861.1		-	ENST00000297814.2	Nonsense_Mutation	SNP	9 : 86498835 - 86498835 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	631	30
KLK15	55554	broad.mit.edu	37	19	51330227	51330227	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:51330227G>A	ENST00000326856.4	-	4	514	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	KLK15_ENST00000301421.2_Missense_Mutation_p.R130C|KLK15_ENST00000598239.1_Missense_Mutation_p.R130C|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000596931.1_Missense_Mutation_p.R129C	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	130	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGGGGGCAACGCGTGGGTAGC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(140;10 2513 7143 9246)							NA				0													31	33	33			NA	NA	19		NA											NA				51330227		2201	4297	6498	SO:0001583	missense			AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562	55554	55554		Kallikreins	20453	protein-coding gene	gene with protein product		610601	kallikrein 15		NA	11010966, 12439720, 16800724, 16800723	Standard	NM_017509	NM_017509	NA	Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000326856.4:c.385C>T	19.37:g.51330227G>A	ENSP00000314783:p.Arg129Cys	NA	A0AUY8|Q15358|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	37		.	.	.	.	.	.	.	.	.	.	g	14.99	2.699087	0.48307	.	.	ENSG00000174562	ENST00000326856;ENST00000301421;ENST00000544946	D	0.88975	-2.45	4.39	4.39	0.52855	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.444898	0.19247	N	0.119028	D	0.91945	0.7449	M	0.64997	1.995	0.09310	N	0.999999	D;P;D	0.89917	1.0;0.732;0.999	P;B;D	0.64877	0.892;0.167;0.93	D	0.84679	0.0716	10	0.72032	D	0.01	.	10.6517	0.45653	0.0:0.1948:0.8052:0.0	.	130;129;130	Q6UBM2;Q6ISI0;Q9H2R5	.;.;KLK15_HUMAN	C	130	ENSP00000301421:R130C	ENSP00000301421:R130C	R	-	1	0	KLK15	56022039	0.000000	0.05858	0.063000	0.19743	0.016000	0.09150	-0.260000	0.08708	2.454000	0.82982	0.555000	0.69702	CGT	KLK15-001	NOVEL	NAGNAG_splice_site|basic	protein_coding	NA	protein_coding	OTTHUMT00000465158.1		-	ENST00000326856.4	Missense_Mutation	SNP	19 : 51330227 - 51330227 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	272	51
LATS1	9113	broad.mit.edu	37	6	150004721	150004721	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:150004721G>A	ENST00000543571.1	-	4	2051	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Missense_Mutation_p.R502C|LATS1_ENST00000253339.5_Missense_Mutation_p.R502C	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	502					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	p.R502C(1)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTTAATACACGCATACTTTTC	0.443		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)											134	139	137			NA	NA	6		NA											NA				150004721		2203	4300	6503	SO:0001583	missense			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023	9113	9113			6514	protein-coding gene	gene with protein product		603473	LATS (large tumor suppressor, Drosophila) homolog 1, LATS, large tumor suppressor, homolog 1 (Drosophila)		NA	9988268, 15122335	Standard	NM_004690	NM_004690	NA	Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1504C>T	6.37:g.150004721G>A	ENSP00000437550:p.Arg502Cys	NA	Q6PKD0	37	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285733	0.59867	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.58358	0.34;0.34;2.51	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000014	T	0.65048	0.2654	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.999	T	0.64296	-0.6441	9	.	.	.	.	14.635	0.68682	0.0:0.0:0.8543:0.1457	.	354;502;502	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	C	502	ENSP00000437550:R502C;ENSP00000253339:R502C;ENSP00000444678:R502C	.	R	-	1	0	LATS1	150046414	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.163000	0.71880	2.767000	0.95098	0.655000	0.94253	CGT	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043923.4		-	ENST00000543571.1	Missense_Mutation	SNP	6 : 150004721 - 150004721 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	641	90
LRMP	4033	broad.mit.edu	37	12	25260900	25260900	+	Missense_Mutation	SNP	C	C	T	rs116094067	by1000genomes	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:25260900C>T	ENST00000354454.3	+	21	2235	c.1406C>T	c.(1405-1407)gCc>gTc	p.A469V	LRMP_ENST00000547044.1_Missense_Mutation_p.A469V|LRMP_ENST00000548766.1_Missense_Mutation_p.A469V	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	525					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TCTGTGGATGCCGCTCCCACA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	112	114			NA	NA	12		NA											NA				25260900		2203	4300	6503	SO:0001583	missense				CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308	4033	4033			6690	protein-coding gene	gene with protein product		602003			NA	8021504	Standard	NM_006152	NM_006152	NA	Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.1406C>T	12.37:g.25260900C>T	ENSP00000346442:p.Ala469Val	NA	A0AVM2|B4E077|Q8N301	37	CCDS8701.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908876	0.72868	.	.	ENSG00000118308	ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.53	4.63	0.57726	.	0.130731	0.50627	D	0.000120	T	0.40067	0.1102	M	0.71581	2.175	0.48632	D	0.99968	D	0.76494	0.999	D	0.72982	0.979	T	0.27157	-1.0082	10	0.59425	D	0.04	-14.0401	13.5703	0.61843	0.0:0.7021:0.2979:0.0	.	525	Q12912	LRMP_HUMAN	V	469;416;469;469	ENSP00000346442:A469V;ENSP00000444056:A416V;ENSP00000446496:A469V;ENSP00000450246:A469V	ENSP00000346442:A469V	A	+	2	0	LRMP	25152167	0.999000	0.42202	0.235000	0.24058	0.633000	0.38033	4.579000	0.60936	1.298000	0.44778	0.557000	0.71058	GCC	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407870.1		+	ENST00000354454.3	Missense_Mutation	SNP	12 : 25260900 - 25260900 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	471	6
LRP6	4040	broad.mit.edu	37	12	12284920	12284920	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:12284920G>A	ENST00000543091.1	-	18	3767				BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000261349.4_Missense_Mutation_p.R1269W			O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	NA					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCATCGCACCGCCAAGCCACA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	85	88			NA	NA	12		NA											NA				12284920		2203	4300	6503	SO:0001627	intron_variant			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018	4040	4040		Low density lipoprotein receptors	6698	protein-coding gene	gene with protein product		603507			NA	9704021	Standard		NM_002336	NA	Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000543091.1:c.3734-64C>T	12.37:g.12284920G>A		NA	Q17RZ2	37		.	.	.	.	.	.	.	.	.	.	G	18.93	3.726908	0.69074	.	.	ENSG00000070018	ENST00000261349	D	0.95980	-3.87	5.92	1.86	0.25419	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.56097	D	0.000024	D	0.96914	0.8992	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96190	0.9137	10	0.52906	T	0.07	.	15.8612	0.79021	0.0:0.0:0.5352:0.4648	.	1269	O75581	LRP6_HUMAN	W	1269	ENSP00000261349:R1269W	ENSP00000261349:R1269W	R	-	1	2	LRP6	12176187	1.000000	0.71417	0.958000	0.39756	0.805000	0.45488	2.391000	0.44424	0.378000	0.24764	-0.182000	0.12963	CGG	LRP6-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400140.1		-	ENST00000543091.1	Intron	SNP	12 : 12284920 - 12284920 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	251	5
MAATS1	89876	broad.mit.edu	37	3	119428733	119428733	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:119428733C>T	ENST00000273390.5	+	5	568	c.491C>T	c.(490-492)gCc>gTc	p.A164V	MAATS1_ENST00000463700.1_Missense_Mutation_p.A164V	NM_033364.3	NP_203528			MYCBP-associated, testis expressed 1	NA											NA						GTTGTTTATGCCGTATCCAAG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	201	203			NA	NA	3		NA											NA				119428733		2202	4300	6502	SO:0001583	missense			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833	89876	89876			24010	protein-coding gene	gene with protein product	AMY-1-associating protein expressed in testis 1, MYCBP-binding protein, spermatogenesis associated 26	609910	chromosome 3 open reading frame 15, MYCBP/AMY-1-associated, testis expressed 1	C3orf15	NA	12223483, 14551891, 17967944	Standard	NM_033364	NM_033364	NA	Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.491C>T	3.37:g.119428733C>T	ENSP00000273390:p.Ala164Val	NA		37	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	C	8.014	0.758185	0.15846	.	.	ENSG00000183833	ENST00000273390;ENST00000463700	T;T	0.50813	1.72;0.73	5.34	4.46	0.54185	.	0.368951	0.29417	N	0.012220	T	0.46092	0.1375	L	0.47716	1.5	0.34195	D	0.672468	B;P;B;P;B	0.39480	0.291;0.604;0.113;0.675;0.383	B;B;B;B;B	0.42771	0.316;0.397;0.062;0.298;0.116	T	0.58340	-0.7653	10	0.30078	T	0.28	-10.2043	14.624	0.68608	0.1473:0.8527:0.0:0.0	.	164;102;164;164;164	Q7Z4T9;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7;Q7Z4T9-2	AAT1_HUMAN;.;.;.;.	V	164	ENSP00000273390:A164V;ENSP00000419489:A164V	ENSP00000273390:A164V	A	+	2	0	C3orf15	120911423	0.211000	0.23529	0.517000	0.27799	0.473000	0.32948	1.353000	0.34045	1.372000	0.46190	0.655000	0.94253	GCC	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355222.1		+	ENST00000273390.5	Missense_Mutation	SNP	3 : 119428733 - 119428733 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	479	5
MARS	4141	broad.mit.edu	37	12	57898028	57898028	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:57898028C>T	ENST00000262027.5	+	11	1448	c.1314C>T	c.(1312-1314)tgC>tgT	p.C438C	MARS_ENST00000315473.5_Silent_p.C204C|MARS_ENST00000447721.2_3'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	438					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GTAAAGTCTGCCGATCATGCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	111	115			NA	NA	12		NA											NA				57898028		2203	4300	6503	SO:0001819	synonymous_variant			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	4141	4141	6.1.1.10	Aminoacyl tRNA synthetases / Class I	6898	protein-coding gene	gene with protein product	methionine tRNA ligase 1, cytoplasmic	156560			NA	10448063, 24482476	Standard	NM_004990	NM_004990	NA	Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1314C>T	12.37:g.57898028C>T		NA	Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	37	CCDS8942.1																																																																																			MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407014.1		+	ENST00000262027.5	Silent	SNP	12 : 57898028 - 57898028 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	456	6
MEGF8	1954	broad.mit.edu	37	19	42860499	42860499	+	Missense_Mutation	SNP	C	C	T	rs142361779	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:42860499C>T	ENST00000334370.4	+	25	4950	c.4315C>T	c.(4315-4317)Cgc>Tgc	p.R1439C	MEGF8_ENST00000251268.6_Missense_Mutation_p.R1506C	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1506	EGF-like 4.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CACTGCCAGCCGCTTCCTGCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	2,4404	2.1+/-5.4	0,2,2201	42	36	38		4315	5	1	19	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	missense	MEGF8	NM_001410.2	180	0,3,6500	TT,TC,CC	NA	0.0116,0.0454,0.0231	probably-damaging	1439/2779	42860499	3,13003	2203	4300	6503	SO:0001583	missense			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429	1954	1954			3233	protein-coding gene	gene with protein product	HBV pre s2 binding protein 1	604267	EGF-like-domain, multiple 4, chromosome 19 open reading frame 49	EGFL4, C19orf49	NA	9693030	Standard	NM_001410	NM_001410	NA	Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000334370.4:c.4315C>T	19.37:g.42860499C>T	ENSP00000334219:p.Arg1439Cys	NA	A8KAY0|O75097	37	CCDS12604.2	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770638	0.69992	4.54E-4	1.16E-4	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.66460	-0.21;-0.21	5.02	5.02	0.67125	Galactose oxidase/kelch, beta-propeller (1);	0.000000	0.64402	D	0.000002	T	0.76535	0.4001	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.967	T	0.79037	-0.1967	10	0.72032	D	0.01	-31.8929	17.1145	0.86685	0.0:1.0:0.0:0.0	.	1506;1439	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	C	1439;1506	ENSP00000334219:R1439C;ENSP00000251268:R1506C	ENSP00000251268:R1506C	R	+	1	0	MEGF8	47552339	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.395000	0.59678	2.345000	0.79718	0.557000	0.71058	CGC	MEGF8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317695.1		+	ENST00000334370.4	Missense_Mutation	SNP	19 : 42860499 - 42860499 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	113	18
MLK4	0	broad.mit.edu	37	1	233515284	233515284	+	Silent	SNP	A	A	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:233515284A>G	ENST00000366624.3	+	9	2793	c.2532A>G	c.(2530-2532)ggA>ggG	p.G844G	MLK4_ENST00000366622.1_Silent_p.G290G	NM_032435.2	NP_115811.2				NA											NA						CTGCCCCAGGAAGTGGTCGTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	81	85			NA	NA	1		NA											NA				233515284		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000366624.3:c.2532A>G	1.37:g.233515284A>G		NA		37	CCDS1598.1																																																																																			MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092495.1		+	ENST00000366624.3	Silent	SNP	1 : 233515284 - 233515284 G PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	385	37
MRC1L1	0	broad.mit.edu	37	10	17949641	17949641	+	Silent	SNP	A	A	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:17949641A>G	ENST00000331429.2	+	28	4108	c.4005A>G	c.(4003-4005)ttA>ttG	p.L1335L							NA										breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTGTAGCTTTACATGCGTCTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	162	159			NA	NA	10		NA											NA				17949641		2186	4283	6469	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000331429.2:c.4005A>G	10.37:g.17949641A>G		NA		37																																																																																				MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000047054.1		+	ENST00000331429.2	Silent	SNP	10 : 17949641 - 17949641 G PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	532	108
MT-CO3	4514	broad.mit.edu	37	M	9622	9622	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chrM:9622C>T	ENST00000362079.2	+	1	416	c.416C>T	c.(415-417)gCa>gTa	p.A139V						mitochondrially encoded cytochrome c oxidase III	NA										breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						CGTATTACTCGCATCAGGAGT	0.478		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					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938	4514	4514		Mitochondrial respiratory chain complex / Complex IV	7422	protein-coding gene	gene with protein product		516050	cytochrome c oxidase III	MTCO3	NA		Standard	YP_003024032		NA	Approved	COX3, COIII, CO3		P00414		ENST00000362079.2:c.416C>T	M.37:g.9622C>T	ENSP00000354982:p.Ala139Val	NA		37																																																																																				MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			+	ENST00000362079.2	Missense_Mutation	SNP	M : 9622 - 9622 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	0	0
PKD1	5310	broad.mit.edu	37	16	2150516	2150516	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:2150516C>T	ENST00000262304.4	-	27	9657	c.9449G>A	c.(9448-9450)gGc>gAc	p.G3150D	PKD1_ENST00000423118.1_Missense_Mutation_p.G3150D	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3150	PLAT.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGCCGGTGGCCGCTCCGGCT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	29	29			NA	NA	16		NA											NA				2150516		2194	4286	6480	SO:0001583	missense			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710	5310	5310		Voltage-gated ion channels / Transient receptor potential cation channels	9008	protein-coding gene	gene with protein product	polycystin 1, transient receptor potential cation channel, subfamily P, member 1	601313			NA		Standard		NM_001009944	NA	Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.9449G>A	16.37:g.2150516C>T	ENSP00000262304:p.Gly3150Asp	NA	Q15140|Q15141	37	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579605	0.86645	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.66280	-0.2;-0.2	4.49	4.49	0.54785	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.054327	0.64402	D	0.000001	T	0.77356	0.4118	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75374	-0.3340	10	0.28530	T	0.3	.	17.3723	0.87382	0.0:1.0:0.0:0.0	.	3150;3150	P98161-3;P98161	.;PKD1_HUMAN	D	3150;3150;2485	ENSP00000262304:G3150D;ENSP00000399501:G3150D	ENSP00000262304:G3150D	G	-	2	0	PKD1	2090517	1.000000	0.71417	0.996000	0.52242	0.760000	0.43138	7.193000	0.77780	2.326000	0.78906	0.555000	0.69702	GGC	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341688.1		-	ENST00000262304.4	Missense_Mutation	SNP	16 : 2150516 - 2150516 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	119	4
PRR23A	729627	broad.mit.edu	37	3	138724864	138724864	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:138724864G>A	ENST00000383163.2	-	1	246	c.247C>T	c.(247-249)Ccg>Tcg	p.P83S	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	83										endometrium(3)|kidney(1)|lung(7)	11						GACGTTGGCGGGAGCTCCAGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	17	16			NA	NA	3		NA											NA				138724864		692	1590	2282	SO:0001583	missense				CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260	729627	729627			37172	protein-coding gene	gene with protein product					NA		Standard	NM_001134659	NM_001134659	NA	Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.247C>T	3.37:g.138724864G>A	ENSP00000372649:p.Pro83Ser	NA		37	CCDS46923.1	.	.	.	.	.	.	.	.	.	.	G	8.887	0.953147	0.18431	.	.	ENSG00000206260	ENST00000383163	.	.	.	2.77	-0.322	0.12713	.	1.884440	0.02784	N	0.121281	T	0.29976	0.0750	N	0.22421	0.69	0.09310	N	1	B	0.26547	0.152	B	0.26517	0.07	T	0.25847	-1.0120	9	0.54805	T	0.06	.	4.9775	0.14148	0.0:0.3914:0.466:0.1426	.	83	A6NEV1	PR23A_HUMAN	S	83	.	ENSP00000372649:P83S	P	-	1	0	PRR23A	140207554	0.011000	0.17503	0.091000	0.20842	0.006000	0.05464	-0.712000	0.05013	-0.069000	0.12931	-0.570000	0.04155	CCG	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361503.1		-	ENST00000383163.2	Missense_Mutation	SNP	3 : 138724864 - 138724864 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	59	4
PTPN14	5784	broad.mit.edu	37	1	214557519	214557519	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:214557519T>G	ENST00000366956.5	-	13	1873	c.1679A>C	c.(1678-1680)aAg>aCg	p.K560T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	560					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GAGATAGTTCTTAAGCATGTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(92;557 1424 24372 34121 40073)							NA				0													63	64	63			NA	NA	1		NA											NA				214557519		2203	4300	6503	SO:0001583	missense			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104	5784	5784		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9647	protein-coding gene	gene with protein product		603155			NA	7733990	Standard	NM_005401	NM_005401	NA	Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1679A>C	1.37:g.214557519T>G	ENSP00000355923:p.Lys560Thr	NA	Q5VSI0	37	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.086987	0.55861	.	.	ENSG00000152104	ENST00000366956	T	0.71341	-0.56	5.61	3.29	0.37713	.	0.095764	0.64402	D	0.000001	T	0.65523	0.2699	M	0.61703	1.905	0.80722	D	1	B	0.31383	0.321	B	0.31614	0.133	T	0.62383	-0.6866	10	0.52906	T	0.07	.	9.8328	0.40952	0.0:0.1389:0.0:0.8611	.	560	Q15678	PTN14_HUMAN	T	560	ENSP00000355923:K560T	ENSP00000355923:K560T	K	-	2	0	PTPN14	212624142	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	2.671000	0.46842	0.502000	0.28037	0.528000	0.53228	AAG	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089918.2		-	ENST00000366956.5	Missense_Mutation	SNP	1 : 214557519 - 214557519 G PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	396	6
PTX4	390667	broad.mit.edu	37	16	1537593	1537593	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:1537593G>A	ENST00000447419.2	-	2	545	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.R169W			Q96A99	PTX4_HUMAN	pentraxin 4, long	174						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						ACGGGCAGCCGCCCCTCCAGA	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	13	12			NA	NA	16		NA											NA				1537593		2163	4220	6383	SO:0001583	missense				CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692	390667	390667			14171	protein-coding gene	gene with protein product		613442	chromosome 16 open reading frame 38	C16orf38	NA		Standard	NM_001013658	NM_001013658	NA	Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.520C>T	16.37:g.1537593G>A	ENSP00000445277:p.Arg174Trp	NA		37		.	.	.	.	.	.	.	.	.	.	G	9.721	1.159636	0.21454	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05996	3.52;3.36	5.28	0.783	0.18572	.	2.155680	0.01935	N	0.041519	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39165	-0.9627	10	0.42905	T	0.14	.	6.0711	0.19889	0.2607:0.0:0.608:0.1313	.	169	Q96A99-2	.	W	174;169	ENSP00000445277:R174W;ENSP00000293922:R169W	ENSP00000293922:R169W	R	-	1	2	PTX4	1477594	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.388000	0.20735	-0.209000	0.10156	-2.067000	0.00394	CGG	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000432526.1		-	ENST00000447419.2	Missense_Mutation	SNP	16 : 1537593 - 1537593 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	53	8
ROBO2	6092	broad.mit.edu	37	3	77684144	77684144	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:77684144G>A	ENST00000332191.8	+	25	4123	c.4067G>A	c.(4066-4068)cGg>cAg	p.R1356Q	ROBO2_ENST00000487694.3_Missense_Mutation_p.R1311Q|ROBO2_ENST00000461745.1_Missense_Mutation_p.R1295Q			Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1295					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGGGAGGGCGGATGGACCAA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	107	106			NA	NA	3		NA											NA				77684144		1981	4156	6137	SO:0001583	missense			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008	6092	6092		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	10250	protein-coding gene	gene with protein product		602431	roundabout (axon guidance receptor, Drosophila) homolog 2		NA	9458045	Standard	XM_031246	NM_002942	NA	Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000332191.8:c.4067G>A	3.37:g.77684144G>A	ENSP00000327536:p.Arg1356Gln	NA	O43608|Q19AB4	37		.	.	.	.	.	.	.	.	.	.	G	17.27	3.346305	0.61073	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	T;T;T	0.63096	0.01;0.05;-0.02	5.34	4.45	0.53987	.	0.224186	0.21846	N	0.068253	T	0.34832	0.0911	N	0.08118	0	0.28032	N	0.934087	B;P;B	0.46327	0.196;0.876;0.196	B;B;B	0.28784	0.016;0.094;0.016	T	0.54227	-0.8325	9	0.36615	T	0.2	.	14.9245	0.70866	0.0725:0.0:0.9275:0.0	.	1311;1356;1295	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	Q	1311;1311;1295;1356	ENSP00000417335:R1311Q;ENSP00000417164:R1295Q;ENSP00000327536:R1356Q	ENSP00000327536:R1356Q	R	+	2	0	ROBO2	77766834	0.998000	0.40836	0.981000	0.43875	0.987000	0.75469	4.160000	0.58164	2.664000	0.90586	0.650000	0.86243	CGG	ROBO2-003	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000352601.1		+	ENST00000332191.8	Missense_Mutation	SNP	3 : 77684144 - 77684144 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	198	39
RPL7A	6130	broad.mit.edu	37	9	136218131	136218131	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr9:136218131G>T	ENST00000323345.6	+	8	741	c.711G>T	c.(709-711)tgG>tgT	p.W237C	RPL7A_ENST00000315731.4_Missense_Mutation_p.W122C|RPL7A_ENST00000463740.1_3'UTR	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	237					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		GCCGTCACTGGGGTGGCAATG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	75	76			NA	NA	9		NA											NA				136218131		2203	4300	6503	SO:0001583	missense			BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303	6130	6130		L ribosomal proteins	10364	protein-coding gene	gene with protein product	surfeit 3, PLA-X polypeptide, surfeit locus protein 3, 60S ribosomal protein L7a, ;, thyroid hormone receptor uncoupling protein	185640			NA	2403926, 2966065	Standard	NM_000972	NM_000972	NA	Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.711G>T	9.37:g.136218131G>T	ENSP00000361076:p.Trp237Cys	NA	P11518	37	CCDS6965.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814931	0.32053	.	.	ENSG00000148303	ENST00000323345;ENST00000315731	T;T	0.70164	0.06;-0.46	5.29	5.29	0.74685	.	0.057096	0.85682	D	0.000000	D	0.85256	0.5655	H	0.97783	4.075	0.80722	D	1	P	0.37997	0.614	P	0.47044	0.535	D	0.89670	0.3883	10	0.87932	D	0	.	17.9044	0.88914	0.0:0.0:1.0:0.0	.	237	P62424	RL7A_HUMAN	C	237;122	ENSP00000361076:W237C;ENSP00000361071:W122C	ENSP00000361071:W122C	W	+	3	0	RPL7A	135207952	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	9.081000	0.94049	2.481000	0.83766	0.561000	0.74099	TGG	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054869.1		+	ENST00000323345.6	Missense_Mutation	SNP	9 : 136218131 - 136218131 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	174	4
RYR1	6261	broad.mit.edu	37	19	39008205	39008205	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:39008205G>A	ENST00000355481.4	+	66	10023	c.9892G>A	c.(9892-9894)Gcc>Acc	p.A3298T	RYR1_ENST00000360985.3_Missense_Mutation_p.A3298T|RYR1_ENST00000359596.3_Missense_Mutation_p.A3298T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3298					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGCCCTGCCCGCCGGCGCCCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	28	29			NA	NA	19		NA											NA				39008205		2201	4299	6500	SO:0001583	missense			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218	6261	6261		Ion channels / Ryanodine receptors	10483	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 137	180901	central core disease of muscle	MHS, MHS1, CCO	NA	1862346, 16621918	Standard		NM_000540	NA	Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000355481.4:c.9892G>A	19.37:g.39008205G>A	ENSP00000347667:p.Ala3298Thr	NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1	.	.	.	.	.	.	.	.	.	.	G	4.453	0.083940	0.08583	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96554	-4.05;-4.05;-4.05	3.6	2.39	0.29439	.	0.186063	0.32868	U	0.005550	D	0.92107	0.7498	L	0.51422	1.61	0.24955	N	0.991763	P;B;B	0.36660	0.564;0.411;0.147	B;B;B	0.27262	0.078;0.054;0.007	D	0.84408	0.0564	10	0.22109	T	0.4	.	13.1533	0.59503	0.0:0.2423:0.7577:0.0	.	3298;3298;3298	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	T	3298;3298;3298;218	ENSP00000352608:A3298T;ENSP00000347667:A3298T;ENSP00000354254:A3298T	ENSP00000347667:A3298T	A	+	1	0	RYR1	43700045	0.680000	0.27605	0.892000	0.35008	0.030000	0.12068	2.996000	0.49449	1.567000	0.49668	0.205000	0.17691	GCC	RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2		+	ENST00000355481.4	Missense_Mutation	SNP	19 : 39008205 - 39008205 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	127	4
RYR1	6261	broad.mit.edu	37	19	38976333	38976333	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:38976333G>A	ENST00000355481.4	+	34	5169	c.5038G>A	c.(5038-5040)Gtg>Atg	p.V1680M	RYR1_ENST00000360985.3_Missense_Mutation_p.V1680M|RYR1_ENST00000359596.3_Missense_Mutation_p.V1680M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1680	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAACAATCGCGTGGCGCACGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	46	47			NA	NA	19		NA											NA				38976333		2203	4298	6501	SO:0001583	missense			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218	6261	6261		Ion channels / Ryanodine receptors	10483	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 137	180901	central core disease of muscle	MHS, MHS1, CCO	NA	1862346, 16621918	Standard		NM_000540	NA	Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000355481.4:c.5038G>A	19.37:g.38976333G>A	ENSP00000347667:p.Val1680Met	NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731538	0.69189	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98150	-4.75;-4.75;-4.75	4.07	4.07	0.47477	.	0.190439	0.31872	U	0.006936	D	0.98642	0.9545	M	0.83603	2.65	0.47153	D	0.999332	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99758	1.1020	10	0.87932	D	0	.	16.0625	0.80847	0.0:0.0:1.0:0.0	.	1680;1680	P21817-2;P21817	.;RYR1_HUMAN	M	1680	ENSP00000352608:V1680M;ENSP00000347667:V1680M;ENSP00000354254:V1680M	ENSP00000347667:V1680M	V	+	1	0	RYR1	43668173	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.556000	0.98127	2.096000	0.63516	0.650000	0.86243	GTG	RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2		+	ENST00000355481.4	Missense_Mutation	SNP	19 : 38976333 - 38976333 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	352	67
SCUBE1	80274	broad.mit.edu	37	22	43625113	43625113	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr22:43625113C>T	ENST00000360835.4	-	9	1175	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	NA	EGF-like 8; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GATGTAGCCGCGGTGACACAG	0.677		NA									OREG0026614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	0.0061	SNP								NA				0													85	59	68			NA	NA	22		NA											NA				43625113		2203	4300	6503	SO:0001583	missense				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307	80274	80274			13441	protein-coding gene	gene with protein product		611746			NA	11087664	Standard	NM_173050	NM_173050	NA	Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1049G>A	22.37:g.43625113C>T	ENSP00000354080:p.Arg350His	917	Q5R336	37	CCDS14048.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.69	2.908995	0.52439	.	.	ENSG00000159307	ENST00000360835	D	0.92199	-2.99	4.96	2.8	0.32819	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.231622	0.41605	N	0.000847	D	0.82660	0.5085	N	0.16862	0.45	0.80722	D	1	B	0.13594	0.008	B	0.11329	0.006	T	0.74990	-0.3475	10	0.51188	T	0.08	.	6.3429	0.21332	0.0:0.567:0.0:0.433	.	350	Q8IWY4	SCUB1_HUMAN	H	350	ENSP00000354080:R350H	ENSP00000354080:R350H	R	-	2	0	SCUBE1	41955057	0.764000	0.28473	0.977000	0.42913	0.412000	0.31113	1.204000	0.32296	0.729000	0.32403	-0.345000	0.07892	CGC	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319582.3		-	ENST00000360835.4	Missense_Mutation	SNP	22 : 43625113 - 43625113 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	152	31
SIPA1L2	57568	broad.mit.edu	37	1	232600891	232600891	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:232600891C>G	ENST00000366630.1	-	8	2873	c.2515G>C	c.(2515-2517)Gag>Cag	p.E839Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E839Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	839					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTTACCTTCTCCTTTTTCTTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	128	129			NA	NA	1		NA											NA				232600891		1989	4165	6154	SO:0001583	missense			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991	57568	57568			23800	protein-coding gene	gene with protein product		611609			NA		Standard	XM_045839	NM_020808	NA	Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2515G>C	1.37:g.232600891C>G	ENSP00000355589:p.Glu839Gln	NA	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866049	0.91511	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.51071	0.72;0.72	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.72070	0.3415	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73820	-0.3862	10	0.72032	D	0.01	-38.6976	20.053	0.97634	0.0:1.0:0.0:0.0	.	839	Q9P2F8	SI1L2_HUMAN	Q	839	ENSP00000355589:E839Q;ENSP00000262861:E839Q	ENSP00000262861:E839Q	E	-	1	0	SIPA1L2	230667514	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.818000	0.86416	2.733000	0.93635	0.650000	0.86243	GAG	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092318.1		-	ENST00000366630.1	Missense_Mutation	SNP	1 : 232600891 - 232600891 G PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	640	9
SNX27	81609	broad.mit.edu	37	1	151611414	151611414	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:151611414T>C	ENST00000368843.3	+	2	482	c.362T>C	c.(361-363)aTt>aCt	p.I121T	SNX27_ENST00000368838.1_Missense_Mutation_p.I28T|SNX27_ENST00000458013.2_Missense_Mutation_p.I121T	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	121	PDZ.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTGGACCTGATTCGAGCAGGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(46;291 966 40145 41237 41888)							NA				0													138	119	125			NA	NA	1		NA											NA				151611414		2203	4300	6503	SO:0001583	missense			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376	81609	81609		Sorting nexins	20073	protein-coding gene	gene with protein product		611541			NA	12461558	Standard	NM_030918	XM_005245509	NA	Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000368843.3:c.362T>C	1.37:g.151611414T>C	ENSP00000357836:p.Ile121Thr	NA	Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	37	CCDS1001.1	.	.	.	.	.	.	.	.	.	.	T	19.79	3.892752	0.72524	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.56103	0.48;0.48;0.48	4.13	4.13	0.48395	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	L	0.55213	1.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.63773	-0.6561	10	0.72032	D	0.01	.	12.3924	0.55366	0.0:0.0:0.0:1.0	.	121;121	Q96L92;Q96L92-3	SNX27_HUMAN;.	T	121;121;28	ENSP00000400333:I121T;ENSP00000357836:I121T;ENSP00000357831:I28T	ENSP00000357831:I28T	I	+	2	0	SNX27	149878038	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.460000	0.80816	1.862000	0.54008	0.482000	0.46254	ATT	SNX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000104568.1		+	ENST00000368843.3	Missense_Mutation	SNP	1 : 151611414 - 151611414 C PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	376	42
SON	6651	broad.mit.edu	37	21	34925626	34925626	+	Silent	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr21:34925626G>A	ENST00000381679.4	+	3	4117	c.4089G>A	c.(4087-4089)tcG>tcA	p.S1363S	SON_ENST00000290239.6_Silent_p.S1363S|SON_ENST00000356577.4_Silent_p.S1363S|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Silent_p.S1363S			P18583	SON_HUMAN	SON DNA binding protein	1363	4 X 8 AA tandem repeats of V-L-E-SS- [AVT]-VT.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGGAGTCTTCGGCTGTGACCG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	47	49			NA	NA	21		NA											NA				34925626		2203	4300	6503	SO:0001819	synonymous_variant			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140	6651	6651		G patch domain containing	11183	protein-coding gene	gene with protein product	NRE-binding protein, negative regulatory element-binding protein, Bax antagonist selected in Saccharomyces 1	182465		C21orf50	NA	8318737, 21551269	Standard	NM_138927	NM_032195	NA	Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000381679.4:c.4089G>A	21.37:g.34925626G>A		NA	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	37		.	.	.	.	.	.	.	.	.	.	G	4.547	0.101635	0.08731	.	.	ENSG00000159140	ENST00000436227	.	.	.	5.08	-5.66	0.02451	.	.	.	.	.	T	0.19046	0.0457	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.31280	-0.9949	4	.	.	.	.	4.4732	0.11722	0.413:0.0:0.3013:0.2857	.	.	.	.	Q	358	.	.	R	+	2	0	SON	33847496	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	-0.373000	0.07494	-0.705000	0.05035	-0.351000	0.07748	CGG	SON-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000140982.3		+	ENST00000381679.4	Silent	SNP	21 : 34925626 - 34925626 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	301	46
SON	6651	broad.mit.edu	37	21	34925616	34925616	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr21:34925616T>C	ENST00000381679.4	+	3	4107	c.4079T>C	c.(4078-4080)cTg>cCg	p.L1360P	SON_ENST00000290239.6_Missense_Mutation_p.L1360P|SON_ENST00000356577.4_Missense_Mutation_p.L1360P|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.L1360P			P18583	SON_HUMAN	SON DNA binding protein	1360	4 X 8 AA tandem repeats of V-L-E-SS- [AVT]-VT.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ATGGCTGTCCTGGAGTCTTCG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	42	44			NA	NA	21		NA											NA				34925616		2203	4300	6503	SO:0001583	missense			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140	6651	6651		G patch domain containing	11183	protein-coding gene	gene with protein product	NRE-binding protein, negative regulatory element-binding protein, Bax antagonist selected in Saccharomyces 1	182465		C21orf50	NA	8318737, 21551269	Standard	NM_138927	NM_032195	NA	Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000381679.4:c.4079T>C	21.37:g.34925616T>C	ENSP00000371095:p.Leu1360Pro	NA	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.596|8.596	0.885735|0.885735	0.17540|0.17540	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679|ENST00000436227	T;T;T;T|.	0.10477|.	3.06;3.06;3.05;2.87|.	5.3|5.3	-0.528|-0.528	0.11905|0.11905	.|.	0.923213|.	0.09101|.	N|.	0.848564|.	T|T	0.20373|0.20373	0.0490|0.0490	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.04013|.	0.001;0.0;0.001;0.0;0.001|.	T|T	0.27806|0.27806	-1.0063|-1.0063	10|5	0.02654|.	T|.	1|.	.|.	5.0629|5.0629	0.14566|0.14566	0.4286:0.4019:0.0:0.1695|0.4286:0.4019:0.0:0.1695	.|.	1360;1360;1041;1360;1360|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	P|R	1360|355	ENSP00000348984:L1360P;ENSP00000290239:L1360P;ENSP00000300278:L1360P;ENSP00000371095:L1360P|.	ENSP00000290239:L1360P|.	L|W	+|+	2|1	0|0	SON|SON	33847486|33847486	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.055000|0.055000	0.15305|0.15305	0.101000|0.101000	0.15251|0.15251	0.009000|0.009000	0.14813|0.14813	-0.231000|-0.231000	0.12243|0.12243	CTG|TGG	SON-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000140982.3		+	ENST00000381679.4	Missense_Mutation	SNP	21 : 34925616 - 34925616 C PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	293	38
SPNS2	124976	broad.mit.edu	37	17	4439661	4439661	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:4439661G>A	ENST00000329078.3	+	11	1757	c.1547G>A	c.(1546-1548)gGc>gAc	p.G516D		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	516					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						GTCCTGGGCGGCATGTTCTTC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	82	87			NA	NA	17		NA											NA				4439661		1568	3582	5150	SO:0001583	missense			BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018	124976	124976			26992	protein-coding gene	gene with protein product		612584			NA	12815463	Standard		NM_001124758	NA	Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1547G>A	17.37:g.4439661G>A	ENSP00000333292:p.Gly516Asp	NA	B9A1T3	37	CCDS42237.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027900	0.93518	.	.	ENSG00000183018	ENST00000329078	T	0.60040	0.22	4.82	4.82	0.62117	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	M	0.84846	2.72	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	T	0.82255	-0.0548	10	0.87932	D	0	.	16.6284	0.84993	0.0:0.0:1.0:0.0	.	516	Q8IVW8	SPNS2_HUMAN	D	516	ENSP00000333292:G516D	ENSP00000333292:G516D	G	+	2	0	SPNS2	4386410	1.000000	0.71417	0.998000	0.56505	0.647000	0.38526	7.685000	0.84117	2.504000	0.84457	0.563000	0.77884	GGC	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438802.1		+	ENST00000329078.3	Missense_Mutation	SNP	17 : 4439661 - 4439661 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	335	7
TSHZ2	128553	broad.mit.edu	37	20	51872260	51872260	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr20:51872260C>T	ENST00000371497.5	+	2	3150	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	TSHZ2_ENST00000603338.2_Missense_Mutation_p.R752C|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R752C	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	755					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CGTGTCCAGGCGCTACCTGTT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	90	91			NA	NA	20		NA											NA				51872260		2203	4300	6503	SO:0001583	missense			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463	128553	128553		Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type	13010	protein-coding gene	gene with protein product		614118	chromosome 20 open reading frame 17, zinc finger protein 218, teashirt family zinc finger 2	C20orf17, ZNF218	NA	9671742	Standard	NM_173485	NM_173485	NA	Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2263C>T	20.37:g.51872260C>T	ENSP00000360552:p.Arg755Cys	NA	Q4VXM4|Q6N003|Q8N260	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992826	0.35131	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.50277	0.75;0.75	5.23	5.23	0.72850	.	0.475787	0.23196	N	0.050846	T	0.43144	0.1234	M	0.68317	2.08	0.34997	D	0.755567	P	0.49358	0.923	B	0.34452	0.183	T	0.65709	-0.6102	10	0.87932	D	0	-5.9641	13.7395	0.62838	0.1538:0.8461:0.0:0.0	.	755	Q9NRE2	TSH2_HUMAN	C	755;752;281	ENSP00000360552:R755C;ENSP00000333114:R752C	ENSP00000333114:R752C	R	+	1	0	TSHZ2	51305667	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.499000	0.53310	2.438000	0.82558	0.579000	0.79373	CGC	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080398.6		+	ENST00000371497.5	Missense_Mutation	SNP	20 : 51872260 - 51872260 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	397	63
UGT1A7	54577	broad.mit.edu	37	2	234590864	234590864	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr2:234590864C>T	ENST00000373426.3	+	1	281	c.281C>T	c.(280-282)gCc>gTc	p.A94V	UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron	NM_019077.2	NP_061950.2			UDP glucuronosyltransferase 1 family, polypeptide A7	NA										NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ATGGTTTTTGCCGATGCTCGC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	112	113			NA	NA	2		NA											NA				234590864		2203	4300	6503	SO:0001583	missense			U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122	54577	54577		UDP glucuronosyltransferases	12539	other	complex locus constituent		606432	UDP glycosyltransferase 1 family, polypeptide A6		NA	9295054, 11434514	Standard	NM_019077	NM_019077	NA	Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.281C>T	2.37:g.234590864C>T	ENSP00000362525:p.Ala94Val	NA		37	CCDS2506.1	.	.	.	.	.	.	.	.	.	.	C	9.122	1.009282	0.19277	.	.	ENSG00000244122	ENST00000373426	T	0.59224	0.28	4.51	2.67	0.31697	.	.	.	.	.	T	0.32376	0.0827	N	0.11789	0.175	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.12837	0.008;0.008	T	0.22556	-1.0213	9	0.05721	T	0.95	.	8.4153	0.32668	0.0:0.7581:0.0:0.2419	.	94;94	Q5DSZ7;Q9HAW7	.;UD17_HUMAN	V	94	ENSP00000362525:A94V	ENSP00000362525:A94V	A	+	2	0	UGT1A7	234255603	0.000000	0.05858	0.002000	0.10522	0.051000	0.14879	-2.282000	0.01156	0.499000	0.27970	0.491000	0.48974	GCC	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130614.1		+	ENST00000373426.3	Missense_Mutation	SNP	2 : 234590864 - 234590864 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	669	7
VGLL2	245806	broad.mit.edu	37	6	117593645	117593645	+	Silent	SNP	C	C	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:117593645C>G	ENST00000326274.5	+	4	1132	c.942C>G	c.(940-942)tcC>tcG	p.S314S	VGLL2_ENST00000352536.3_Silent_p.S140S	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	314					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		GTGGTGCATCCCTCCTGAGCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													470	393	419			NA	NA	6		NA											NA				117593645		2203	4300	6503	SO:0001819	synonymous_variant			AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162	245806	245806			20232	protein-coding gene	gene with protein product		609979	vestigial like 2 (Drosophila)		NA	12376544	Standard	NM_153453	NM_153453	NA	Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.942C>G	6.37:g.117593645C>G		NA	Q8WWX1	37	CCDS5115.1																																																																																			VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041975.2		+	ENST00000326274.5	Silent	SNP	6 : 117593645 - 117593645 G PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	1369	174
XRN1	54464	broad.mit.edu	37	3	142151540	142151540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:142151540G>A	ENST00000264951.4	-	2	388	c.271C>T	c.(271-273)Cga>Tga	p.R91*	XRN1_ENST00000392981.2_Nonsense_Mutation_p.R91*|XRN1_ENST00000463916.1_Nonsense_Mutation_p.R91*|XRN1_ENST00000544157.1_5'UTR	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	91					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	p.R91*(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATTTTTGCTCGAGGAGCCACA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	endometrium(1)											42	40	40			NA	NA	3		NA											NA				142151540		2203	4299	6502	SO:0001587	stop_gained			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127	54464	54464			30654	protein-coding gene	gene with protein product		607994			NA	12515382	Standard	NM_019001	XM_005247544	NA	Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.271C>T	3.37:g.142151540G>A	ENSP00000264951:p.Arg91*	NA	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	37	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683679	0.68157	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916	.	.	.	5.94	3.98	0.46160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7693	13.4404	0.61109	0.0:0.0:0.6797:0.3203	.	.	.	.	X	91	.	ENSP00000264951:R91X	R	-	1	2	XRN1	143634230	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	3.127000	0.50484	2.816000	0.96949	0.561000	0.74099	CGA	XRN1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354087.2		-	ENST00000264951.4	Nonsense_Mutation	SNP	3 : 142151540 - 142151540 A PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	175	19
ZEB1	6935	broad.mit.edu	37	10	31799625	31799625	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:31799625T>C	ENST00000320985.10	+	5	616	c.506T>C	c.(505-507)tTa>tCa	p.L169S	ZEB1_ENST00000542815.3_Missense_Mutation_p.L102S|ZEB1_ENST00000446923.2_Missense_Mutation_p.L153S|ZEB1_ENST00000361642.5_Missense_Mutation_p.L170S|ZEB1_ENST00000560721.2_Missense_Mutation_p.L149S|ZEB1_ENST00000559858.1_3'UTR			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	169					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TTTTCACAATTACTCACCTGT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(40;423 959 14296 36701 49589)							NA				0													69	67	68			NA	NA	10		NA											NA				31799625		2202	4300	6502	SO:0001583	missense			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516	6935	6935		Zinc fingers, C2H2-type, Homeoboxes / ZF class	11642	protein-coding gene	gene with protein product		189909	transcription factor 8 (represses interleukin 2 expression), posterior polymorphous corneal dystrophy 3	TCF8, PPCD3	NA	1427828, 1840704, 15384081, 16252232	Standard	NM_030751	NM_001128128	NA	Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.506T>C	10.37:g.31799625T>C	ENSP00000319248:p.Leu169Ser	NA	Q12924|Q13800|Q5T968	37	CCDS7169.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.4|24.4	4.532407|4.532407	0.85812|0.85812	.|.	.|.	ENSG00000148516|ENSG00000148516	ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000424869;ENST00000446923|ENST00000543514	T;T;T;T;T|.	0.15139|.	2.45;2.52;2.45;2.52;2.5|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.291763|.	0.23908|.	N|.	0.043369|.	T|T	0.70622|0.70622	0.3245|0.3245	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;0.999;0.999;1.0;0.999;0.999|.	D;D;D;D;D;D;D;D|.	0.97110|.	1.0;0.999;0.998;0.998;0.998;0.999;0.998;0.998|.	T|T	0.66143|0.66143	-0.5997|-0.5997	10|6	0.72032|0.18276	D|T	0.01|0.48	-8.4191|-8.4191	16.1952|16.1952	0.82023|0.82023	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	102;169;153;169;169;149;170;169|.	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275|.	.;.;.;.;.;.;.;ZEB1_HUMAN|.	S|H	169;170;169;102;169;149;28;170;153|61	ENSP00000354487:L170S;ENSP00000444891:L102S;ENSP00000319248:L169S;ENSP00000415961:L170S;ENSP00000391612:L153S|.	ENSP00000319248:L169S|ENSP00000443742:Y61H	L|Y	+|+	2|1	0|0	ZEB1|ZEB1	31839631|31839631	1.000000|1.000000	0.71417|0.71417	0.883000|0.883000	0.34634|0.34634	0.979000|0.979000	0.70002|0.70002	7.630000|7.630000	0.83225|0.83225	2.236000|2.236000	0.73375|0.73375	0.482000|0.482000	0.46254|0.46254	TTA|TAC	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419083.2		+	ENST00000320985.10	Missense_Mutation	SNP	10 : 31799625 - 31799625 C PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	344	63
ZNF274	10782	broad.mit.edu	37	19	58718233	58718233	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:58718233G>T	ENST00000597818.1	+	0	591				ZNF274_ENST00000345813.3_Missense_Mutation_p.D103Y|ZNF274_ENST00000424679.2_Missense_Mutation_p.D30Y|ZNF274_ENST00000326804.4_Missense_Mutation_p.D135Y			Q96GC6	ZN274_HUMAN	zinc finger protein 274	NA					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ATATGCTGAAGATGGAAGCCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	40	38			NA	NA	19		NA											NA				58718233		2073	4209	6282	SO:0001624	3_prime_UTR_variant			AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606	10782	10782		Zinc fingers, C2H2-type, -, -, -	13068	protein-coding gene	gene with protein product		605467			NA	10777669	Standard	NM_133502	NM_133502	NA	Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000597818.1:c.*588G>T	19.37:g.58718233G>T		NA	Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	37		.	.	.	.	.	.	.	.	.	.	G	9.784	1.176193	0.21704	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.08193	3.19;3.12;3.16	3.45	-1.9	0.07665	.	1.323810	0.05424	N	0.544714	T	0.18635	0.0447	L	0.51422	1.61	0.09310	N	1	D;D;P	0.76494	0.987;0.999;0.94	P;D;P	0.63703	0.663;0.917;0.462	T	0.30995	-0.9959	10	0.87932	D	0	-0.3588	6.8146	0.23822	0.5997:0.0:0.4003:0.0	.	30;103;135	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	Y	135;103;30	ENSP00000321209:D135Y;ENSP00000321187:D103Y;ENSP00000409872:D30Y	ENSP00000321209:D135Y	D	+	1	0	ZNF274	63410045	0.076000	0.21285	0.001000	0.08648	0.215000	0.24574	0.215000	0.17562	-0.267000	0.09325	0.462000	0.41574	GAT	ZNF274-002	KNOWN	sequence_error|basic	processed_transcript	NA	protein_coding	OTTHUMT00000466736.1		+	ENST00000597818.1	3'UTR	SNP	19 : 58718233 - 58718233 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	103	23
ZNF32	7580	broad.mit.edu	37	10	44139613	44139613	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:44139613C>T	ENST00000395797.1	-	3	895	c.707G>A	c.(706-708)gGc>gAc	p.G236D	ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.G236D	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		GTGGATTTTGCCATGCAGAAT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	89	89			NA	NA	10		NA											NA				44139613		2203	4300	6503	SO:0001583	missense			U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740	7580	7580		Zinc fingers, C2H2-type	13095	protein-coding gene	gene with protein product		194539	zinc finger protein 32 (KOX 30)		NA		Standard	NM_006973	XM_005271822	NA	Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.707G>A	10.37:g.44139613C>T	ENSP00000379143:p.Gly236Asp	NA	Q92951	37	CCDS7206.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107138	0.37145	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	T;T	0.07444	3.19;3.19	4.67	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.135771	0.34411	N	0.003995	T	0.08044	0.0201	L	0.37750	1.13	0.33588	D	0.60073	B	0.15930	0.015	B	0.22880	0.042	T	0.02766	-1.1113	10	0.87932	D	0	-4.6653	8.9989	0.36069	0.0:0.9032:0.0:0.0968	.	236	P17041	ZNF32_HUMAN	D	236	ENSP00000363556:G236D;ENSP00000379143:G236D	ENSP00000363556:G236D	G	-	2	0	ZNF32	43459619	0.000000	0.05858	1.000000	0.80357	0.980000	0.70556	0.715000	0.25822	2.876000	0.98609	0.655000	0.94253	GGC	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047723.1		-	ENST00000395797.1	Missense_Mutation	SNP	10 : 44139613 - 44139613 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	222	4
ZNF783	100289678	broad.mit.edu	37	7	148984847	148984847	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr7:148984847G>T	ENST00000489518.1	+	0	432				RP4-800G7.2_ENST00000416232.1_RNA|ZNF783_ENST00000418158.2_Missense_Mutation_p.W72C			C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	NA					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GGTGGCTGTGGAGTTCGGGAA	0.627		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:0001624	3_prime_UTR_variant			AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946	100289678	100289678		Zinc fingers, C2H2-type, -	27222	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_001195220	NM_001195220	NA	Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000489518.1:c.*429G>T	7.37:g.148984847G>T		NA		37		.	.	.	.	.	.	.	.	.	.	G	17.03	3.285426	0.59867	.	.	ENSG00000204946	ENST00000418158	.	.	.	3.92	-0.0557	0.13808	.	.	.	.	.	T	0.25865	0.0630	.	.	.	0.20074	N	0.999937	P	0.36587	0.559	B	0.34931	0.192	T	0.12682	-1.0538	7	0.87932	D	0	.	5.8867	0.18886	0.2687:0.1444:0.5869:0.0	.	72	E7ENX7	.	C	72	.	ENSP00000391817:W72C	W	+	3	0	ZNF783	148615780	0.998000	0.40836	0.002000	0.10522	0.002000	0.02628	1.898000	0.39809	-0.532000	0.06332	-1.564000	0.00881	TGG	ZNF783-005	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000352719.2		+	ENST00000489518.1	3'UTR	SNP	7 : 148984847 - 148984847 T PAAD-TCGA-3A-A9I5-Tumor-SM-5W7VG	194	35
