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
ABCB4	5244	broad.mit.edu	37	7	87060829	87060829	+	Missense_Mutation	SNP	C	C	T	rs144398632		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:87060829C>T	ENST00000265723.4	-	15	1895	c.1784G>A	c.(1783-1785)cGa>cAa	p.R595Q	ABCB4_ENST00000358400.3_Missense_Mutation_p.R595Q|ABCB4_ENST00000359206.3_Missense_Mutation_p.R595Q|ABCB4_ENST00000545634.1_Missense_Mutation_p.R595Q|ABCB4_ENST00000453593.1_Missense_Mutation_p.R595Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	595	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ATCTGCATTTCGGACCGTAGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	201	174	183		1784,1784,1784	5.5	1	7	dbSNP_134	183	0,8600		0,0,4300	no	missense,missense,missense	ABCB4	NM_000443.3,NM_018849.2,NM_018850.2	43,43,43	0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	595/1280,595/1287,595/1233	87060829	2,13004	2203	4300	6503	SO:0001583	missense			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471	5244	5244		ATP binding cassette transporters / subfamily B	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3	NA	2892668, 11313316	Standard	NM_000443	NM_018850	NA	Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1784G>A	7.37:g.87060829C>T	ENSP00000265723:p.Arg595Gln	NA	A0A2V7|A4D1D3|A4D1D4|D6W5P3|D6W5P4|Q14813	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565430	0.86439	4.54E-4	0.0	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77	5.49	5.49	0.81192	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.70745	0.3259	N	0.19112	0.55	0.80722	D	1	P;P;P	0.41978	0.69;0.767;0.656	B;P;B	0.46796	0.083;0.527;0.327	T	0.73962	-0.3817	10	0.56958	D	0.05	-8.993	19.365	0.94458	0.0:1.0:0.0:0.0	.	595;595;595	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	Q	595	ENSP00000352135:R595Q;ENSP00000351172:R595Q;ENSP00000265723:R595Q;ENSP00000392983:R595Q;ENSP00000437465:R595Q	ENSP00000265723:R595Q	R	-	2	0	ABCB4	86898765	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	3.280000	0.51677	2.580000	0.87095	0.591000	0.81541	CGA	ABCB4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336083.1		-	ENST00000265723.4	Missense_Mutation	SNP	7 : 87060829 - 87060829 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	420	5
ACADM	34	broad.mit.edu	37	1	76226969	76226969	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:76226969A>G	ENST00000370834.5	+	12	1286	c.1207A>G	c.(1207-1209)Act>Gct	p.T403A	ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000541113.1_Missense_Mutation_p.T334A|ACADM_ENST00000420607.2_Missense_Mutation_p.T374A|ACADM_ENST00000370841.4_Missense_Mutation_p.T370A|ACADM_ENST00000543667.1_Missense_Mutation_p.T181A			P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	370					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						TCAGTTAGCTACTGATGCTGT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	152	155			NA	NA	1		NA											NA				76226969		2203	4300	6503	SO:0001583	missense			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	34	34	1.3.99.3		89	protein-coding gene	gene with protein product		607008	acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain		NA	3035565	Standard		NM_000016	NA	Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370834.5:c.1207A>G	1.37:g.76226969A>G	ENSP00000359871:p.Thr403Ala	NA	Q5T4U4|Q9NYF1	37		.	.	.	.	.	.	.	.	.	.	A	10.88	1.475492	0.26511	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84	5.21	-0.354	0.12591	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.749864	0.13164	N	0.408858	D	0.84479	0.5481	L	0.39514	1.22	0.09310	N	0.999999	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.12156	0.003;0.005;0.007;0.002;0.005	T	0.76751	-0.2844	10	0.56958	D	0.05	.	6.9288	0.24429	0.3076:0.0:0.0733:0.619	.	334;284;403;374;370	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	A	370;403;334;181;374	ENSP00000359878:T370A;ENSP00000359871:T403A;ENSP00000442324:T334A;ENSP00000446176:T181A;ENSP00000409612:T374A	ENSP00000359871:T403A	T	+	1	0	ACADM	75999557	0.000000	0.05858	0.515000	0.27774	0.808000	0.45660	-2.126000	0.01316	-0.251000	0.09542	0.482000	0.46254	ACT	ACADM-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000026968.2		+	ENST00000370834.5	Missense_Mutation	SNP	1 : 76226969 - 76226969 G PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	328	141
AMER3	205147	broad.mit.edu	37	2	131520725	131520725	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:131520725C>T	ENST00000423981.1	+	2	1190	c.1080C>T	c.(1078-1080)agC>agT	p.S360S	AMER3_ENST00000321420.4_Silent_p.S360S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3	NA											NA						ACCCTCGCAGCGGCTCCAAAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	38	39			NA	NA	2		NA											NA				131520725		2203	4300	6503	SO:0001819	synonymous_variant			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171	205147	205147		-	26771	protein-coding gene	gene with protein product			family with sequence similarity 123C	FAM123C	NA	20843316	Standard	NM_152698	NM_001105195	NA	Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1080C>T	2.37:g.131520725C>T		NA		37	CCDS2164.1																																																																																			AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254531.3		+	ENST00000423981.1	Silent	SNP	2 : 131520725 - 131520725 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	145	6
ANKAR	150709	broad.mit.edu	37	2	190597916	190597916	+	Silent	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:190597916A>G	ENST00000520309.1	+	17	3472	c.3384A>G	c.(3382-3384)gaA>gaG	p.E1128E	ANKAR_ENST00000438402.2_Intron|ANKAR_ENST00000281412.6_Intron|ANKAR_ENST00000431575.2_Silent_p.E1057E|ANKAR_ENST00000313581.4_Silent_p.E1128E	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1128						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAGGATTTGAATATGCTGATG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	136	139			NA	NA	2		NA											NA				190597916		2203	4299	6502	SO:0001819	synonymous_variant			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687	150709	150709		Ankyrin repeat domain containing, Armadillo repeat containing	26350	protein-coding gene	gene with protein product		609803			NA	15110750	Standard	NM_144708	NM_144708	NA	Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3384A>G	2.37:g.190597916A>G		NA	Q3ZCS6|Q4G0M2|Q6ZU02	37	CCDS33351.2																																																																																			ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335045.3		+	ENST00000520309.1	Silent	SNP	2 : 190597916 - 190597916 G PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	279	95
ANKRD44	91526	broad.mit.edu	37	2	197943459	197943459	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:197943459C>T	ENST00000328737.2	-	16	1619	c.1543G>A	c.(1543-1545)Gcc>Acc	p.A515T	ANKRD44_ENST00000539527.1_Missense_Mutation_p.A468T|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A515T|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A540T|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A515T|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A532T			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	540							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCATAGGCGGCAGCATAATGT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	92	98			NA	NA	2		NA											NA				197943459		2203	4300	6503	SO:0001583	missense			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413	91526	91526		Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits, Ankyrin repeat domain containing	25259	protein-coding gene	gene with protein product	protein phosphatase 6 ankyrin repeat subunit B				NA		Standard	NM_153697	NM_153697	NA	Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1543G>A	2.37:g.197943459C>T	ENSP00000331516:p.Ala515Thr	NA	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	37		.	.	.	.	.	.	.	.	.	.	C	26.3	4.725981	0.89298	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886;ENST00000409153;ENST00000539527	T;T;T;T;T;T;T;T	0.72942	-0.37;-0.33;-0.37;-0.37;-0.33;-0.37;-0.37;-0.7	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.85526	0.5717	M	0.80183	2.485	0.52501	D	0.999952	D;D;D	0.76494	0.979;0.998;0.999	D;D;D	0.85130	0.923;0.997;0.997	D	0.86497	0.1801	10	0.72032	D	0.01	.	19.3941	0.94598	0.0:1.0:0.0:0.0	.	468;540;558	F5H682;Q8N8A2-3;Q8N8A2-2	.;.;.	T	355;532;515;515;515;215;540;468	ENSP00000403415:A355T;ENSP00000282272:A532T;ENSP00000331516:A515T;ENSP00000402420:A515T;ENSP00000338794:A515T;ENSP00000416319:A215T;ENSP00000387141:A540T;ENSP00000437825:A468T	ENSP00000282272:A532T	A	-	1	0	ANKRD44	197651704	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.685000	0.54678	2.885000	0.99019	0.655000	0.94253	GCC	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000335113.1		-	ENST00000328737.2	Missense_Mutation	SNP	2 : 197943459 - 197943459 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	138	4
ARID1A	8289	broad.mit.edu	37	1	27106178	27106178	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:27106178delC	ENST00000457599.2	+	20	5138	c.5138delC	c.(5137-5139)tcafs	p.S1713fs	ARID1A_ENST00000324856.7_Frame_Shift_Del_p.S1930fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.S258fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S1547fs	NM_139135.2	NP_624361.1	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1930					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTAAGAGTTCAGAGGCCATC	0.522		NA	Mis, N, F, S, D		clear cell ovarian carcinoma, RCC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													129	125	127			NA	NA	1		NA											NA				27106178		2203	4300	6503	SO:0001589	frameshift_variant			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713	8289	8289		-	11110	protein-coding gene	gene with protein product		603024	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1, AT rich interactive domain 1A (SWI- like)	C1orf4, SMARCF1	NA	9630625, 9434167	Standard	NM_139135	NM_139135	NA	Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000457599.2:c.5138delC	1.37:g.27106178delC	ENSP00000387636:p.Ser1713fs	NA	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	37	CCDS44091.1																																																																																			ARID1A-002	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011438.2		+	ENST00000457599.2	Frame_Shift_Del	DEL	1 : 27106178 - 27106178 - PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	332	155
ASIC1	41	broad.mit.edu	37	12	50452799	50452799	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:50452799C>G	ENST00000228468.4	+	2	635	c.250C>G	c.(250-252)Cag>Gag	p.Q84E	ASIC1_ENST00000447966.2_Missense_Mutation_p.Q84E	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	84					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding				NA					Amiloride(DB00594)	GGCTGCCTCTCAGCTTACCTT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	136	155			NA	NA	12		NA											NA				50452799		2203	4300	6503	SO:0001583	missense			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881	41	41		Ion channels / Acid-sensing (proton-gated) ion channels	100	protein-coding gene	gene with protein product		602866	amiloride-sensitive cation channel 2, neuronal	ACCN2	NA	9037075	Standard	NM_020039	NM_001095	NA	Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000228468.4:c.250C>G	12.37:g.50452799C>G	ENSP00000228468:p.Gln84Glu	NA	A3KN86|P78349|Q96CV2	37	CCDS8796.1	.	.	.	.	.	.	.	.	.	.	C	1.660	-0.511702	0.04200	.	.	ENSG00000110881	ENST00000228468;ENST00000447966	T;T	0.62232	0.04;0.04	4.83	4.83	0.62350	.	0.663254	0.14534	N	0.313671	T	0.33206	0.0855	N	0.02916	-0.46	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.23619	-1.0183	10	0.02654	T	1	-20.7445	12.1838	0.54226	0.2837:0.7163:0.0:0.0	.	84;84	P78348;P78348-1	ACCN2_HUMAN;.	E	84	ENSP00000228468:Q84E;ENSP00000400228:Q84E	ENSP00000228468:Q84E	Q	+	1	0	ACCN2	48739066	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.621000	0.46418	2.404000	0.81709	0.462000	0.41574	CAG	ASIC1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406003.2		+	ENST00000228468.4	Missense_Mutation	SNP	12 : 50452799 - 50452799 G PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	299	72
ASUN	55726	broad.mit.edu	37	12	27078694	27078694	+	Splice_Site	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:27078694C>G	ENST00000261191.7	-	6	1211	c.675G>C	c.(673-675)gaG>gaC	p.E225D	ASUN_ENST00000539625.1_Splice_Site_p.E124D	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	225					cell division|mitosis|regulation of mitotic cell cycle		protein binding				NA						CAACACTCACCTCTTTTTTAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	93	94			NA	NA	12		NA											NA				27078694		2202	4300	6502	SO:0001630	splice_region_variant			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102	55726	55726			20174	protein-coding gene	gene with protein product	spermatogenesis associated 30	615079	chromosome 12 open reading frame 11, asunder, spermatogenesis regulator homolog (Drosphila)	C12orf11	NA	12414650, 19357193, 23097494	Standard	NM_018164	NM_018164	NA	Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.675+1G>C	12.37:g.27078694C>G		NA	Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	37	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409355	0.62399	.	.	ENSG00000064102	ENST00000261191;ENST00000539625;ENST00000538727;ENST00000544548	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	4.76	2.43	0.29744	.	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	L	0.31065	0.9	0.58432	D	0.999994	B	0.06786	0.001	B	0.12156	0.007	T	0.07009	-1.0795	9	.	.	.	-8.5557	7.2815	0.26314	0.1533:0.7342:0.0:0.1125	.	225	Q9NVM9	M89BB_HUMAN	D	225;124;124;225	ENSP00000261191:E225D;ENSP00000443724:E124D;ENSP00000448467:E124D;ENSP00000446183:E225D	.	E	-	3	2	C12orf11	26969961	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	2.975000	0.49281	0.460000	0.27045	0.585000	0.79938	GAG	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402819.1	Missense_Mutation	-	ENST00000261191.7	Splice_Site	SNP	12 : 27078694 - 27078694 G PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	246	66
BAI3	577	broad.mit.edu	37	6	69349053	69349053	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:69349053C>A	ENST00000370598.1	+	3	1307	c.486C>A	c.(484-486)agC>agA	p.S162R		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	162					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACAAGGTCAGCCCAAGCCAGT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	75	75			NA	NA	6		NA											NA				69349053		2203	4300	6503	SO:0001583	missense			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298	577	577		-, GPCR / Class B : Orphans	945	protein-coding gene	gene with protein product		602684			NA	9533023	Standard		NM_001704	NA	Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.486C>A	6.37:g.69349053C>A	ENSP00000359630:p.Ser162Arg	NA	O60297|Q2NKN6|Q5VY37|Q9BX54	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555672	0.45487	.	.	ENSG00000135298	ENST00000370598	T	0.21361	2.01	5.23	5.23	0.72850	.	0.059956	0.64402	D	0.000005	T	0.11750	0.0286	N	0.22421	0.69	0.80722	D	1	P	0.44578	0.838	B	0.41860	0.368	T	0.03534	-1.1027	10	0.87932	D	0	.	19.1611	0.93533	0.0:1.0:0.0:0.0	.	162	O60242	BAI3_HUMAN	R	162	ENSP00000359630:S162R	ENSP00000359630:S162R	S	+	3	2	BAI3	69405774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.610000	0.88304	0.655000	0.94253	AGC	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041120.1		+	ENST00000370598.1	Missense_Mutation	SNP	6 : 69349053 - 69349053 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	387	5
BBS2	583	broad.mit.edu	37	16	56535366	56535366	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:56535366C>T	ENST00000245157.5	-	10	1544	c.1124G>A	c.(1123-1125)gGc>gAc	p.G375D	BBS2_ENST00000568104.1_Missense_Mutation_p.G375D	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	375					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TGGGATTATGCCCCGATGCCC	0.498		NA							Bardet-Biedl syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	174	182			NA	NA	16		NA											NA				56535366		2198	4300	6498	SO:0001583	missense	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124	583	583			967	protein-coding gene	gene with protein product		606151		BBS	NA	11285252	Standard	NM_031885	NM_031885	NA	Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1124G>A	16.37:g.56535366C>T	ENSP00000245157:p.Gly375Asp	NA	Q96CM0|Q96SN9	37	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826572	0.71143	.	.	ENSG00000125124	ENST00000245157	D	0.91124	-2.79	5.38	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.88844	0.6547	L	0.55017	1.72	0.80722	D	1	P	0.34997	0.479	B	0.37480	0.251	D	0.88279	0.2935	10	0.59425	D	0.04	-7.8682	13.8574	0.63537	0.0:0.9273:0.0:0.0727	.	375	Q9BXC9	BBS2_HUMAN	D	375	ENSP00000245157:G375D	ENSP00000245157:G375D	G	-	2	0	BBS2	55092867	1.000000	0.71417	0.627000	0.29227	0.991000	0.79684	5.495000	0.66912	1.285000	0.44548	0.650000	0.86243	GGC	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434386.2		-	ENST00000245157.5	Missense_Mutation	SNP	16 : 56535366 - 56535366 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	498	5
BOC	91653	broad.mit.edu	37	3	113005548	113005548	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:113005548C>T	ENST00000495514.1	+	20	3888	c.3184C>T	c.(3184-3186)Cca>Tca	p.P1062S	BOC_ENST00000273395.4_Missense_Mutation_p.P1063S|BOC_ENST00000355385.3_Missense_Mutation_p.P1062S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1062					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGGCCTTGTGCCAGTTGAAGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	180	176			NA	NA	3		NA											NA				113005548		2203	4300	6503	SO:0001583	missense			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857	91653	91653		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	17173	protein-coding gene	gene with protein product	brother of CDO, brother of CDON, cell adhesion associated, oncogene regulated 2	608708	Boc homolog (mouse)		NA	11782431	Standard	NM_033254	NM_033254	NA	Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.3184C>T	3.37:g.113005548C>T	ENSP00000418663:p.Pro1062Ser	NA	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	37	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640112	0.87760	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385;ENST00000473008	T;T;T	0.72615	-0.67;-0.66;-0.67	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	T	0.78534	0.4298	L	0.32530	0.975	0.52501	D	0.999953	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.76545	-0.2920	10	0.42905	T	0.14	.	18.7597	0.91845	0.0:1.0:0.0:0.0	.	879;1063;1062	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	S	1062;1063;1062;38	ENSP00000418663:P1062S;ENSP00000273395:P1063S;ENSP00000347546:P1062S	ENSP00000273395:P1063S	P	+	1	0	BOC	114488238	0.996000	0.38824	0.571000	0.28486	0.991000	0.79684	5.038000	0.64177	2.873000	0.98535	0.561000	0.74099	CCA	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354485.3		+	ENST00000495514.1	Missense_Mutation	SNP	3 : 113005548 - 113005548 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	648	6
BTRC	8945	broad.mit.edu	37	10	103239151	103239151	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:103239151C>G	ENST00000370187.3	+	4	379	c.261C>G	c.(259-261)tgC>tgG	p.C87W	BTRC_ENST00000393441.4_Missense_Mutation_p.C46W|BTRC_ENST00000408038.2_Missense_Mutation_p.C51W	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	87					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCAGACTCTGCTTAAACCAAG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	100	102			NA	NA	10		NA											NA				103239151		2203	4300	6503	SO:0001583	missense			Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167	8945	8945		F-boxes / WD-40 domains, WD repeat domain containing	1144	protein-coding gene	gene with protein product		603482	beta-transducin repeat containing		NA	9660940, 10331953, 18354483	Standard	NM_033637	NM_033637	NA	Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.261C>G	10.37:g.103239151C>G	ENSP00000359206:p.Cys87Trp	NA	B5MD49|Q5W142|Q9Y213	37	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988372	0.74589	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038;ENST00000539411;ENST00000370183	T;T;T	0.62232	0.24;0.3;0.04	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000002	T	0.58949	0.2158	N	0.19112	0.55	0.58432	D	0.999999	P;P;D	0.54047	0.939;0.876;0.964	P;P;P	0.49853	0.506;0.609;0.624	T	0.61337	-0.7083	10	0.45353	T	0.12	-10.7863	19.4281	0.94754	0.0:1.0:0.0:0.0	.	61;51;87	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	W	87;46;51;25;69	ENSP00000359206:C87W;ENSP00000377088:C46W;ENSP00000385339:C51W	ENSP00000359202:C69W	C	+	3	2	BTRC	103229141	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.933000	0.63484	2.642000	0.89623	0.655000	0.94253	TGC	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049936.1		+	ENST00000370187.3	Missense_Mutation	SNP	10 : 103239151 - 103239151 G PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	327	105
C2orf88	84281	broad.mit.edu	37	2	191064754	191064754	+	Silent	SNP	T	T	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:191064754T>G	ENST00000340623.4	+	2	579	c.168T>G	c.(166-168)acT>acG	p.T56T	C2orf88_ENST00000396974.2_Silent_p.T56T|C2orf88_ENST00000443551.2_Silent_p.T56T|C2orf88_ENST00000409870.1_Silent_p.T56T	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN	chromosome 2 open reading frame 88	56			T -> I (in dbSNP:rs6753459).							kidney(1)|large_intestine(1)|lung(1)	3						GGACCAATACTGTGATCTTGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	192	191			NA	NA	2		NA											NA				191064754		1980	4154	6134	SO:0001819	synonymous_variant			BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699	84281	84281			28191	protein-coding gene	gene with protein product	small membrane AKAP	615117			NA	23996002	Standard	NM_032321	NM_032321	NA	Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000340623.4:c.168T>G	2.37:g.191064754T>G		NA	D3DPI3|Q53TC7	37	CCDS42792.1																																																																																			C2orf88-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334954.1		+	ENST00000340623.4	Silent	SNP	2 : 191064754 - 191064754 G PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	626	188
CDC37	11140	broad.mit.edu	37	19	10506629	10506629	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:10506629G>A	ENST00000222005.2	-	2	406	c.353C>T	c.(352-354)aCg>aTg	p.T118M		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	118					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		TTTGCTGAGCGTGTCCACGTT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	122	125			NA	NA	19		NA											NA				10506629		2203	4300	6503	SO:0001583	missense			U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401	11140	11140			1735	protein-coding gene	gene with protein product	CDC37 cell division cycle 37 homolog, Hsp90 co-chaperone Cdc37, CDC37 (cell division cycle 37, S. cerevisiae, homolog)	605065	CDC37 (cell division cycle 37, S. cerevisiae, homolog), CDC37 cell division cycle 37 homolog (S. cerevisiae), cell division cycle 37 homolog (S. cerevisiae)		NA	8703009, 8666233	Standard	NM_007065	NM_007065	NA	Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.353C>T	19.37:g.10506629G>A	ENSP00000222005:p.Thr118Met	NA	Q53YA2	37	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355303	0.61293	.	.	ENSG00000105401	ENST00000222005	T	0.50813	0.73	4.05	4.05	0.47172	Cdc37, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	M	0.91196	3.185	0.80722	D	1	P;P	0.38827	0.649;0.649	B;B	0.35114	0.196;0.196	T	0.70073	-0.4972	10	0.87932	D	0	.	14.0814	0.64925	0.0:0.0:1.0:0.0	.	118;118	Q6FG59;Q16543	.;CDC37_HUMAN	M	118	ENSP00000222005:T118M	ENSP00000222005:T118M	T	-	2	0	CDC37	10367629	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.983000	0.93477	1.969000	0.57287	0.555000	0.69702	ACG	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451987.1		-	ENST00000222005.2	Missense_Mutation	SNP	19 : 10506629 - 10506629 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	444	9
CDHR1	92211	broad.mit.edu	37	10	85968486	85968486	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:85968486G>A	ENST00000372117.3	+	12	1272	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	CDHR1_ENST00000332904.3_Splice_Site_p.G390E|CDHR1_ENST00000440770.2_Splice_Site_p.G149E	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	390	Cadherin 4.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ATTCTCTAGGGAGCCAATGCC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	69	69			NA	NA	10		NA											NA				85968486		2203	4300	6503	SO:0001630	splice_region_variant			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600	92211	92211		Cadherins / Cadherin-related	14550	protein-coding gene	gene with protein product		609502	protocadherin 21	PCDH21	NA	11597768	Standard	NM_033100	NM_001171971	NA	Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1168-1G>A	10.37:g.85968486G>A		NA	Q69YZ8|Q8IXY5	37	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705035	0.88924	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.64991	-0.05;-0.05;-0.13	5.53	5.53	0.82687	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.83866	0.5347	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.86541	0.1828	10	0.56958	D	0.05	-10.8744	18.2373	0.89954	0.0:0.0:1.0:0.0	.	149;390;390	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	E	390;390;149	ENSP00000331063:G390E;ENSP00000361189:G390E;ENSP00000415980:G149E	ENSP00000331063:G390E	G	+	2	0	CDHR1	85958466	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.476000	0.97823	2.599000	0.87857	0.655000	0.94253	GGA	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049111.1	Missense_Mutation	+	ENST00000372117.3	Splice_Site	SNP	10 : 85968486 - 85968486 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	152	37
CNTRL	11064	broad.mit.edu	37	9	123937395	123937395	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:123937395G>A	ENST00000373855.1	+	43	7107	c.6847G>A	c.(6847-6849)Gct>Act	p.A2283T	CNTRL_ENST00000238341.5_Missense_Mutation_p.A2283T|CNTRL_ENST00000373850.1_Missense_Mutation_p.A1731T|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	2283	Sufficient for interaction with HOOK2.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ACAAGTAGATGCTTTAGGGGA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	133	135			NA	NA	9		NA											NA				123937395		2203	4300	6503	SO:0001583	missense			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397	11064	11064			1858	protein-coding gene	gene with protein product		605496	centrosomal protein 1, centrosomal protein 110kDa	CEP1, CEP110	NA	10688839	Standard	NM_007018	XM_005251679	NA	Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.6847G>A	9.37:g.123937395G>A	ENSP00000362962:p.Ala2283Thr	NA	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368628	0.42003	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.35973	1.64;1.64;1.28	5.33	5.33	0.75918	.	.	.	.	.	T	0.37517	0.1006	M	0.61703	1.905	0.43355	D	0.995422	B	0.18310	0.027	B	0.15052	0.012	T	0.20974	-1.0259	9	0.16420	T	0.52	.	18.0072	0.89213	0.0:0.0:1.0:0.0	.	2283	Q7Z7A1	CNTRL_HUMAN	T	2283;2283;2283;440;1731;965	ENSP00000362962:A2283T;ENSP00000238341:A2283T;ENSP00000362956:A1731T	ENSP00000238341:A2283T	A	+	1	0	CNTRL	122977216	0.975000	0.34042	0.844000	0.33320	0.895000	0.52256	3.716000	0.54904	2.479000	0.83701	0.555000	0.69702	GCT	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250216.1		+	ENST00000373855.1	Missense_Mutation	SNP	9 : 123937395 - 123937395 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	297	6
CORO1B	57175	broad.mit.edu	37	11	67209273	67209273	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:67209273C>G	ENST00000341356.5	-	4	495	c.385G>C	c.(385-387)Gag>Cag	p.E129Q	CORO1B_ENST00000393893.1_Missense_Mutation_p.E129Q|CORO1B_ENST00000453768.2_Missense_Mutation_p.E129Q|CORO1B_ENST00000545016.1_Missense_Mutation_p.E129Q	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	129					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GTGTGCCCCTCCAGTACCACC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	53	58			NA	NA	11		NA											NA				67209273		2200	4295	6495	SO:0001583	missense			AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725	57175	57175		Coronins, WD repeat domain containing	2253	protein-coding gene	gene with protein product		609849	coronin, actin-binding protein, 1B		NA	9778037	Standard	NM_020441	NM_001018070	NA	Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.385G>C	11.37:g.67209273C>G	ENSP00000340211:p.Glu129Gln	NA	B2RD45	37	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.110965	0.37242	.	.	ENSG00000172725	ENST00000393893;ENST00000341356;ENST00000393886;ENST00000453768;ENST00000545016	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	4.6	3.66	0.41972	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.38548	N	0.001648	T	0.38214	0.1032	N	0.12569	0.235	0.49582	D	0.9998	B;B;B	0.28933	0.03;0.054;0.228	B;B;B	0.30782	0.032;0.027;0.12	T	0.13098	-1.0522	10	0.15952	T	0.53	-30.956	14.16	0.65441	0.0:0.8485:0.1515:0.0	.	129;129;129	E7EW44;F5H0D2;Q9BR76	.;.;COR1B_HUMAN	Q	129;129;156;129;129	ENSP00000377471:E129Q;ENSP00000340211:E129Q;ENSP00000416006:E129Q;ENSP00000438056:E129Q	ENSP00000340211:E129Q	E	-	1	0	CORO1B	66965849	1.000000	0.71417	0.778000	0.31720	0.027000	0.11550	5.697000	0.68295	1.094000	0.41399	0.563000	0.77884	GAG	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396220.1		-	ENST00000341356.5	Missense_Mutation	SNP	11 : 67209273 - 67209273 G PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	242	54
CREB3	10488	broad.mit.edu	37	9	35733435	35733435	+	Silent	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:35733435T>C	ENST00000353704.2	+	4	826	c.388T>C	c.(388-390)Ttg>Ctg	p.L130L	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	154					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		GAAGAGTCTATTGGAGAAGGA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	94	97			NA	NA	9		NA											NA				35733435		2203	4300	6503	SO:0001819	synonymous_variant			AF211848	CCDS6588.1	9p13.3	2013-01-10	2003-11-06		ENSG00000107175	ENSG00000107175	10488	10488		basic leucine zipper proteins	2347	protein-coding gene	gene with protein product		606443	cAMP responsive element binding protein 3 (luman)		NA	9271389	Standard	NM_006368	NM_006368	NA	Approved	LZIP, Luman	uc003zxv.3	O43889	OTTHUMG00000019872	ENST00000353704.2:c.388T>C	9.37:g.35733435T>C		NA	O14671|O14919|Q5TCV1|Q96GK8|Q9H2W3|Q9UE77	37	CCDS6588.1																																																																																			CREB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052349.1		+	ENST00000353704.2	Silent	SNP	9 : 35733435 - 35733435 C PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	180	57
CYP4X1	260293	broad.mit.edu	37	1	47514244	47514244	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:47514244C>T	ENST00000371901.3	+	10	1465	c.1215C>T	c.(1213-1215)acC>acT	p.T405T	CYP4X1_ENST00000538609.1_Silent_p.T404T	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	405						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TAGGGATCACCGTGGTTCTTA	0.423		NA											c	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0													216	232	227			NA	NA	1		NA											NA				47514244		2203	4300	6503	SO:0001819	synonymous_variant			AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377	260293	260293		Cytochrome P450s	20244	protein-coding gene	gene with protein product		614999			NA	12176035	Standard	NM_178033	NM_178033	NA	Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.1215C>T	1.37:g.47514244C>T		NA		37	CCDS544.1																																																																																			CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022017.1		+	ENST00000371901.3	Silent	SNP	1 : 47514244 - 47514244 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	523	13
DEF8	54849	broad.mit.edu	37	16	90027351	90027351	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:90027351G>T	ENST00000563594.1	+	7	1524	c.527G>T	c.(526-528)cGc>cTc	p.R176L	DEF8_ENST00000570182.1_Missense_Mutation_p.R166L|DEF8_ENST00000567874.1_Missense_Mutation_p.R116L|DEF8_ENST00000569453.1_Missense_Mutation_p.R176L|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000563795.1_Missense_Mutation_p.R176L|DEF8_ENST00000268676.7_Missense_Mutation_p.R237L	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	237					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TGTTATTACCGCTGTCACAGT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	138	145			NA	NA	16		NA											NA				90027351		2198	4300	6498	SO:0001583	missense			AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995	54849	54849			25969	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_207514	NM_207514	NA	Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000563594.1:c.527G>T	16.37:g.90027351G>T	ENSP00000458019:p.Arg176Leu	NA	B3KT65|B4DK62|B4E0S9|B7Z3H6|Q8N8N3|Q9NXL0	37	CCDS58493.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126553	0.77549	.	.	ENSG00000140995	ENST00000268676	D	0.83419	-1.72	3.82	3.82	0.43975	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.135757	0.49916	D	0.000129	T	0.77538	0.4145	N	0.10733	0.035	0.80722	D	1	D;D;D	0.56746	0.977;0.977;0.966	P;P;P	0.56343	0.738;0.796;0.796	T	0.77247	-0.2658	10	0.25106	T	0.35	-4.7809	15.8391	0.78831	0.0:0.0:1.0:0.0	.	176;166;237	Q6ZN54-5;Q6ZN54-3;Q6ZN54	.;.;DEFI8_HUMAN	L	237	ENSP00000268676:R237L	ENSP00000268676:R237L	R	+	2	0	DEF8	88554852	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	6.982000	0.76173	2.119000	0.64992	0.462000	0.41574	CGC	DEF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421870.1		+	ENST00000563594.1	Missense_Mutation	SNP	16 : 90027351 - 90027351 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	429	187
DSCAML1	57453	broad.mit.edu	37	11	117376404	117376404	+	Silent	SNP	G	G	A	rs140529836	by1000genomes	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:117376404G>A	ENST00000321322.6	-	9	2008	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	DSCAML1_ENST00000527706.1_Silent_p.I399I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	609	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCAGCTGGCCGATGGAGGCGG	0.637		NA											G	5	0.0023	0.01	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	0.0023	0.9904	LOWCOV,EXOME	NA	NA	7e-04	SNP								NA				0								G		4,4398	8.1+/-20.4	0,4,2197	80	64	69		2007	-3.8	0.9	11	dbSNP_134	69	0,8592		0,0,4296	no	coding-synonymous	DSCAML1	NM_020693.2		0,4,6493	AA,AG,GG	NA	0.0,0.0909,0.0308		669/2114	117376404	4,12990	2201	4296	6497	SO:0001819	synonymous_variant				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103	57453	57453		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	14656	protein-coding gene	gene with protein product		611782			NA	11453658	Standard	NM_020693	NM_020693	NA	Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2007C>T	11.37:g.117376404G>A		NA	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	37	CCDS8384.1																																																																																			DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392907.2		-	ENST00000321322.6	Silent	SNP	11 : 117376404 - 117376404 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	189	41
ECD	11319	broad.mit.edu	37	10	74912158	74912158	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:74912158A>G	ENST00000372979.4	-	7	1011	c.805T>C	c.(805-807)Tat>Cat	p.Y269H	ECD_ENST00000430082.2_Missense_Mutation_p.Y269H|ECD_ENST00000454759.2_Intron	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	269					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					AATTGTGCATATAGACATTTA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	81	84			NA	NA	10		NA											NA				74912158		2203	4300	6503	SO:0001583	missense			BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882	11319	11319			17029	protein-coding gene	gene with protein product					NA	9928932, 15128659	Standard	NM_007265	NM_007265	NA	Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.805T>C	10.37:g.74912158A>G	ENSP00000362070:p.Tyr269His	NA		37	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.845475	0.91197	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000453402	T;T;T	0.43688	0.94;0.94;0.94	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79636	-0.1721	10	0.87932	D	0	-18.1447	14.2899	0.66270	1.0:0.0:0.0:0.0	.	269;269	C9JX46;O95905	.;SGT1_HUMAN	H	269;269;195	ENSP00000362070:Y269H;ENSP00000401566:Y269H;ENSP00000391367:Y195H	ENSP00000362070:Y269H	Y	-	1	0	ECD	74582164	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.234000	0.95347	2.255000	0.74692	0.533000	0.62120	TAT	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048606.1		-	ENST00000372979.4	Missense_Mutation	SNP	10 : 74912158 - 74912158 G PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	312	107
EPHB2	2048	broad.mit.edu	37	1	23240039	23240039	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:23240039C>T	ENST00000400191.3	+	16	2955	c.2937C>T	c.(2935-2937)aaC>aaT	p.N979N	EPHB2_ENST00000374630.3_Silent_p.N979N|EPHB2_ENST00000374627.1_3'UTR|EPHB2_ENST00000374632.3_Silent_p.N980N	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	979					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CGCAGATGAACCAGATTCAGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	90	89			NA	NA	1		NA											NA				23240039		2203	4300	6503	SO:0001819	synonymous_variant			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2048	2048	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3393	protein-coding gene	gene with protein product		600997	EphB2	DRT, ERK, EPHT3	NA	1648701	Standard	NM_017449	NM_017449	NA	Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2937C>T	1.37:g.23240039C>T		NA	O43477|Q5T0U6|Q5T0U7|Q5T0U8	37																																																																																				EPHB2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000008060.2		+	ENST00000400191.3	Silent	SNP	1 : 23240039 - 23240039 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	139	57
ESRRG	2104	broad.mit.edu	37	1	216737608	216737608	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:216737608G>A	ENST00000366937.1	-	6	1117	c.851C>T	c.(850-852)gCc>gTc	p.A284V	ESRRG_ENST00000361525.3_Missense_Mutation_p.A249V|ESRRG_ENST00000391890.3_Missense_Mutation_p.A256V|ESRRG_ENST00000359162.2_Missense_Mutation_p.A249V|ESRRG_ENST00000366938.2_Missense_Mutation_p.A249V|ESRRG_ENST00000487276.1_Missense_Mutation_p.A249V|ESRRG_ENST00000493603.1_Missense_Mutation_p.A249V|ESRRG_ENST00000493748.1_Missense_Mutation_p.A249V|ESRRG_ENST00000366940.2_Missense_Mutation_p.A249V|ESRRG_ENST00000360012.3_Missense_Mutation_p.A249V|ESRRG_ENST00000361395.2_Missense_Mutation_p.A249V|ESRRG_ENST00000463665.1_Missense_Mutation_p.A210V|ESRRG_ENST00000408911.3_Missense_Mutation_p.A272V	NM_001243518.1	NP_001230447.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	272					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.A272V(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTCTCGGTCGGCCAAGTCACA	0.463		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)											178	156	163			NA	NA	1		NA											NA				216737608		2203	4300	6503	SO:0001583	missense			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482	2104	2104		Nuclear hormone receptors	3474	protein-coding gene	gene with protein product		602969			NA	9676434, 10072763	Standard	NM_206595	NM_001243505	NA	Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000366937.1:c.851C>T	1.37:g.216737608G>A	ENSP00000355904:p.Ala284Val	NA	A8K4I0|A8K6I2|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	37	CCDS58061.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003172	0.54254	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13	5.56	4.65	0.58169	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97648	0.9229	M	0.75085	2.285	0.80722	D	1	B;D;D	0.89917	0.322;1.0;0.999	B;D;D	0.68192	0.199;0.949;0.956	D	0.98206	1.0470	10	0.87932	D	0	.	14.6034	0.68460	0.0705:0.0:0.9295:0.0	.	210;284;272	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	V	249;249;284;272;249;249;249;249;249;256;210;249;249;249;249	ENSP00000355225:A249V;ENSP00000355907:A249V;ENSP00000355904:A284V;ENSP00000386171:A272V;ENSP00000352077:A249V;ENSP00000354584:A249V;ENSP00000355905:A249V;ENSP00000353108:A249V;ENSP00000419594:A249V;ENSP00000375761:A256V;ENSP00000418629:A210V;ENSP00000419155:A249V;ENSP00000417374:A249V;ENSP00000419514:A249V	ENSP00000346386:A249V	A	-	2	0	ESRRG	214804231	1.000000	0.71417	0.812000	0.32479	0.762000	0.43233	9.869000	0.99810	1.339000	0.45563	0.655000	0.94253	GCC	ESRRG-006	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089881.4		-	ENST00000366937.1	Missense_Mutation	SNP	1 : 216737608 - 216737608 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	473	6
EYS	346007	broad.mit.edu	37	6	66063349	66063349	+	Splice_Site	SNP	A	A	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:66063349A>T	ENST00000393380.2	-	9	1997		c.e9+1		EYS_ENST00000342421.5_Splice_Site|EYS_ENST00000503581.1_Splice_Site|EYS_ENST00000370616.2_Splice_Site|EYS_ENST00000370621.3_Splice_Site|EYS_ENST00000370618.3_Splice_Site	NM_001142801.1	NP_001136273.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	NA					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TAAATTTGTTACCTGCAAATC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	63	64			NA	NA	6		NA											NA				66063349		2203	4300	6503	SO:0001630	splice_region_variant				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107	346007	346007			21555	protein-coding gene	gene with protein product		612424	chromosome 6 open reading frame 180, EGF-like-domain, multiple 11, retinitis pigmentosa 25 (autosomal recessive), EGF-like-domain, multiple 10, chromosome 6 open reading frame 178, chromosome 6 open reading frame 179	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179	NA	18836446, 18976725	Standard	XM_294050	NM_001142800	NA	Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000393380.2:c.1459+1T>A	6.37:g.66063349A>T		NA	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	37	CCDS47446.1	.	.	.	.	.	.	.	.	.	.	A	8.880	0.951312	0.18431	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	.	.	.	4.0	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2851	0.43562	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EYS	66120070	0.986000	0.35501	0.153000	0.22517	0.081000	0.17604	2.533000	0.45667	1.441000	0.47550	0.482000	0.46254	.	EYS-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041109.2	Intron	-	ENST00000393380.2	Splice_Site	SNP	6 : 66063349 - 66063349 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	276	105
FZD7	8324	broad.mit.edu	37	2	202900208	202900208	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:202900208C>T	ENST00000286201.1	+	1	899	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	280					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGTGGACATGCGGCGCTTCAG	0.662		NA									OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	117	117			NA	NA	2		NA											NA				202900208		2203	4300	6503	SO:0001583	missense			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760	8324	8324		GPCR / Class F : Frizzled receptors	4045	protein-coding gene	gene with protein product		603410	frizzled (Drosophila) homolog 7, frizzled homolog 7 (Drosophila), frizzled 7, seven transmembrane spanning receptor, frizzled family receptor 7		NA	9707618, 9813155	Standard	NM_003507	NM_003507	NA	Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.838C>T	2.37:g.202900208C>T	ENSP00000286201:p.Arg280Trp	2133	O94816|Q53S59|Q96B74	37	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097608	0.56075	.	.	ENSG00000155760	ENST00000286201	D	0.82893	-1.66	5.13	3.28	0.37604	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.88577	0.6474	M	0.71036	2.16	0.58432	D	0.999994	D	0.76494	0.999	P	0.61658	0.892	D	0.89101	0.3489	10	0.72032	D	0.01	.	14.0995	0.65046	0.2941:0.7059:0.0:0.0	.	280	O75084	FZD7_HUMAN	W	280	ENSP00000286201:R280W	ENSP00000286201:R280W	R	+	1	2	FZD7	202608453	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.396000	0.34531	0.677000	0.31305	0.563000	0.77884	CGG	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256314.1		+	ENST00000286201.1	Missense_Mutation	SNP	2 : 202900208 - 202900208 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	929	6
GABRG3	2567	broad.mit.edu	37	15	27777959	27777959	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:27777959C>T	ENST00000333743.6	+	10	1590	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	446					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CTCGTACTCCCGGGTCTTTTT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(114;800 1656 7410 37729 45293)							NA				0													76	78	77			NA	NA	15		NA											NA				27777959		1956	4136	6092	SO:0001583	missense				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256	2567	2567		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4088	protein-coding gene	gene with protein product	GABA(G) receptor, gamma 3	600233			NA	7601451	Standard		NM_033223	NA	Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1336C>T	15.37:g.27777959C>T	ENSP00000331912:p.Arg446Trp	NA	Q9HD46|Q9NYT2	37	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852493	0.71719	.	.	ENSG00000182256	ENST00000333743	D	0.86366	-2.11	5.75	2.63	0.31362	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.061993	0.64402	D	0.000007	D	0.93327	0.7873	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92650	0.6132	10	0.87932	D	0	.	9.021	0.36200	0.471:0.4096:0.1194:0.0	.	446	Q99928	GBRG3_HUMAN	W	446	ENSP00000331912:R446W	ENSP00000331912:R446W	R	+	1	2	GABRG3	25451554	0.997000	0.39634	0.480000	0.27341	0.902000	0.53008	3.752000	0.55172	0.748000	0.32831	0.650000	0.86243	CGG	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103584.2		+	ENST00000333743.6	Missense_Mutation	SNP	15 : 27777959 - 27777959 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	174	42
GALNT13	114805	broad.mit.edu	37	2	155099379	155099379	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:155099379G>A	ENST00000392825.3	+	6	1214	c.647G>A	c.(646-648)gGa>gAa	p.G216E	GALNT13_ENST00000409237.1_Missense_Mutation_p.G216E	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	216	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGCACGTTAGGATGGCTGGAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	77	79			NA	NA	2		NA											NA				155099379		2203	4300	6503	SO:0001583	missense			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	114805	114805	2.4.1.41	Glycosyltransferase family 2 domain containing	23242	protein-coding gene	gene with protein product	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13, polypeptide GalNAc transferase 13	608369	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)		NA	11572484, 12407114	Standard	NM_052917	XM_005246267	NA	Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.647G>A	2.37:g.155099379G>A	ENSP00000376570:p.Gly216Glu	NA	Q6ZWG1|Q96PX0|Q9UIE5	37	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189933	0.94923	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.59224	0.28;0.28	5.82	5.82	0.92795	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.78792	0.4339	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.80091	-0.1527	10	0.66056	D	0.02	.	19.0704	0.93134	0.0:0.0:1.0:0.0	.	216;216;216	B3KY85;Q08ER7;Q8IUC8	.;.;GLT13_HUMAN	E	216	ENSP00000376570:G216E;ENSP00000387239:G216E	ENSP00000376570:G216E	G	+	2	0	GALNT13	154807625	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.864000	0.99589	2.747000	0.94245	0.591000	0.81541	GGA	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254870.2		+	ENST00000392825.3	Missense_Mutation	SNP	2 : 155099379 - 155099379 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	166	5
HDAC9	9734	broad.mit.edu	37	7	18625006	18625006	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:18625006G>A	ENST00000524023.1	+	2	237	c.32G>A	c.(31-33)cGt>cAt	p.R11H	HDAC9_ENST00000428307.2_Missense_Mutation_p.R42H|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42H|HDAC9_ENST00000406451.4_Missense_Mutation_p.R42H|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42H|HDAC9_ENST00000432645.2_Missense_Mutation_p.R42H|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42H|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70H|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84H|HDAC9_ENST00000456174.2_Missense_Mutation_p.R11H	NM_001204147.1	NP_001191076.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	42					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTGTTGTCCGTGAGAAGCAA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	94	94			NA	NA	7		NA											NA				18625006		1970	4179	6149	SO:0001583	missense			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052	9734	9734			14065	protein-coding gene	gene with protein product		606543			NA	10523670, 10487760	Standard		NM_178425	NA	Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000524023.1:c.32G>A	7.37:g.18625006G>A	ENSP00000430036:p.Arg11His	NA	A7E2F3|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	37	CCDS56468.1	.	.	.	.	.	.	.	.	.	.	G	36	5.684136	0.96774	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000413509;ENST00000413380;ENST00000430454;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000441986;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60424	0.71;0.74;0.76;0.76;0.23;0.77;0.73;0.19;0.23;0.21;0.72;0.78;0.81	5.93	5.93	0.95920	Histone deacetylase, glutamine rich N-terminal domain (1);	0.324775	0.26840	N	0.022229	T	0.71945	0.3400	L	0.42245	1.32	0.58432	D	0.999996	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.998;1.0;0.999;1.0;0.998;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.928;0.928;0.953;0.952;0.973;0.928;0.953;0.953;0.987;0.998;0.953;0.917;0.973	T	0.69942	-0.5008	10	0.51188	T	0.08	-10.7869	20.3368	0.98748	0.0:0.0:1.0:0.0	.	11;11;42;70;84;42;42;42;42;11;42;42;61	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	H	84;87;42;42;11;42;42;42;70;42;42;42;11;11;11;42	ENSP00000401669:R84H;ENSP00000412497:R42H;ENSP00000392564:R42H;ENSP00000384382:R42H;ENSP00000384657:R42H;ENSP00000395655:R42H;ENSP00000384017:R70H;ENSP00000383912:R42H;ENSP00000410337:R42H;ENSP00000408617:R42H;ENSP00000404763:R11H;ENSP00000388568:R11H;ENSP00000430036:R11H	ENSP00000262069:R87H	R	+	2	0	HDAC9	18591531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	CGT	HDAC9-022	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376089.1		+	ENST00000524023.1	Missense_Mutation	SNP	7 : 18625006 - 18625006 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	389	45
IFIH1	64135	broad.mit.edu	37	2	163134021	163134021	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:163134021C>A	ENST00000263642.2	-	10	2343	c.1948G>T	c.(1948-1950)Gat>Tat	p.D650Y		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	650					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						tactcatcatcaccaccctca	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	99	106			NA	NA	2		NA											NA				163134021		2202	4298	6500	SO:0001583	missense			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267	64135	64135			18873	protein-coding gene	gene with protein product	helicard	606951			NA		Standard	NM_022168	NM_022168	NA	Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1948G>T	2.37:g.163134021C>A	ENSP00000263642:p.Asp650Tyr	NA	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	37	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461433	0.43736	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.05382	3.45	5.07	2.26	0.28386	.	0.611706	0.14567	N	0.311694	T	0.07954	0.0199	L	0.51422	1.61	0.09310	N	1	P	0.44090	0.826	B	0.41088	0.347	T	0.19679	-1.0298	10	0.48119	T	0.1	-4.9411	10.219	0.43186	0.0:0.7829:0.0:0.2171	.	650	Q9BYX4	IFIH1_HUMAN	Y	650	ENSP00000263642:D650Y	ENSP00000263642:D650Y	D	-	1	0	IFIH1	162842267	0.001000	0.12720	0.003000	0.11579	0.450000	0.32258	0.372000	0.20467	0.728000	0.32382	0.655000	0.94253	GAT	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255078.2		-	ENST00000263642.2	Missense_Mutation	SNP	2 : 163134021 - 163134021 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	217	5
IFT46	56912	broad.mit.edu	37	11	118416125	118416125	+	Splice_Site	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:118416125T>C	ENST00000264020.2	-	12	1348	c.971A>G	c.(970-972)cAg>cGg	p.Q324R	TMEM25_ENST00000442938.2_Intron|IFT46_ENST00000530872.1_Intron|IFT46_ENST00000264021.3_Splice_Site_p.Q273R|TMEM25_ENST00000354284.4_Intron	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	273					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTGGCTCACCTGTGAGTTCTT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	135	134			NA	NA	11		NA											NA				118416125		2200	4295	6495	SO:0001630	splice_region_variant			AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096	56912	56912		Intraflagellar transport homologs	26146	protein-coding gene	gene with protein product	cilia and flagella associated protein 32		chromosome 11 open reading frame 60, intraflagellar transport 46 homolog (Chlamydomonas)	C11orf60	NA	10873569, 19253336	Standard	NM_020153	NM_020153	NA	Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264020.2:c.972+1A>G	11.37:g.118416125T>C		NA	A8K0F6|Q9H6V5	37	CCDS8399.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756597	0.69648	.	.	ENSG00000118096	ENST00000264021;ENST00000264020	T;T	0.51325	0.74;0.71	6.03	6.03	0.97812	.	0.122109	0.56097	D	0.000029	T	0.72630	0.3484	M	0.86740	2.835	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70935	0.971;0.964	T	0.75906	-0.3152	10	0.48119	T	0.1	-1.6128	16.5655	0.84588	0.0:0.0:0.0:1.0	.	273;324	Q9NQC8;Q9NQC8-2	IFT46_HUMAN;.	R	273;324	ENSP00000264021:Q273R;ENSP00000264020:Q324R	ENSP00000264020:Q324R	Q	-	2	0	IFT46	117921335	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	6.966000	0.76073	2.302000	0.77476	0.533000	0.62120	CAG	IFT46-013	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389628.1	Missense_Mutation	-	ENST00000264020.2	Splice_Site	SNP	11 : 118416125 - 118416125 C PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	600	196
IKBKB	3551	broad.mit.edu	37	8	42129663	42129663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:42129663G>A	ENST00000520810.1	+	2	231	c.45G>A	c.(43-45)tgG>tgA	p.W15*	IKBKB_ENST00000379708.3_5'UTR|IKBKB_ENST00000520835.1_Intron|IKBKB_ENST00000518983.1_Nonsense_Mutation_p.W15*|IKBKB_ENST00000519735.1_Nonsense_Mutation_p.W15*|IKBKB_ENST00000522147.1_Nonsense_Mutation_p.W15*|IKBKB_ENST00000416505.2_5'UTR	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	15	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GTGGGGCCTGGGAAATGAAAG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	117	117			NA	NA	8		NA											NA				42129663		2203	4300	6503	SO:0001587	stop_gained			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365	3551	3551			5960	protein-coding gene	gene with protein product		603258			NA	9878263, 9763654	Standard		NM_001556	NA	Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.45G>A	8.37:g.42129663G>A	ENSP00000430684:p.Trp15*	NA	B4DZ30|O75327	37	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	42	9.636366	0.99226	.	.	ENSG00000104365	ENST00000520810;ENST00000519735;ENST00000518983;ENST00000522147	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7992	0.63190	0.0:0.0:1.0:0.0	.	.	.	.	X	15	.	ENSP00000339151:W15X	W	+	3	0	IKBKB	42248820	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.652000	0.67959	2.392000	0.81423	0.655000	0.94253	TGG	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377214.1		+	ENST00000520810.1	Nonsense_Mutation	SNP	8 : 42129663 - 42129663 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	298	137
IKBKB	3551	broad.mit.edu	37	8	42129664	42129664	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:42129664G>A	ENST00000520810.1	+	2	232	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	IKBKB_ENST00000379708.3_5'UTR|IKBKB_ENST00000520835.1_Intron|IKBKB_ENST00000518983.1_Missense_Mutation_p.E16K|IKBKB_ENST00000519735.1_Missense_Mutation_p.E16K|IKBKB_ENST00000522147.1_Missense_Mutation_p.E16K|IKBKB_ENST00000416505.2_5'UTR	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	16	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TGGGGCCTGGGAAATGAAAGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	117	117			NA	NA	8		NA											NA				42129664		2203	4300	6503	SO:0001583	missense			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365	3551	3551			5960	protein-coding gene	gene with protein product		603258			NA	9878263, 9763654	Standard		NM_001556	NA	Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.46G>A	8.37:g.42129664G>A	ENSP00000430684:p.Glu16Lys	NA	B4DZ30|O75327	37	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127519	0.56721	.	.	ENSG00000104365	ENST00000520810;ENST00000519735;ENST00000518983;ENST00000522147	T;T	0.65916	-0.18;-0.18	4.84	4.84	0.62591	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46833	0.1413	L	0.31476	0.935	0.80722	D	1	B;B	0.13594	0.006;0.008	B;B	0.20384	0.02;0.029	T	0.36720	-0.9736	10	0.06891	T	0.86	.	13.7992	0.63190	0.0:0.0:1.0:0.0	.	16;16	O14920;Q32ND9	IKKB_HUMAN;.	K	16	ENSP00000430684:E16K;ENSP00000430483:E16K	ENSP00000339151:E16K	E	+	1	0	IKBKB	42248821	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.652000	0.67959	2.392000	0.81423	0.655000	0.94253	GAA	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377214.1		+	ENST00000520810.1	Missense_Mutation	SNP	8 : 42129664 - 42129664 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	296	139
IPO5	3843	broad.mit.edu	37	13	98666315	98666315	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:98666315G>A	ENST00000261574.5	+	22	2406	c.2226G>A	c.(2224-2226)gcG>gcA	p.A742A	IPO5_ENST00000539640.1_Silent_p.A599A|IPO5_ENST00000490680.1_Silent_p.A724A	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	724					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	p.A742A(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGGCAGCAGCGGAATCCATGC	0.428		NA											G	2	9e-04	NA	0.0028	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	9e-04	0.9304	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				1	Substitution - coding silent(1)	lung(1)											119	121	120			NA	NA	13		NA											NA				98666315		2203	4300	6503	SO:0001819	synonymous_variant			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150	3843	3843		Importins	6402	protein-coding gene	gene with protein product		602008	karyopherin (importin) beta 3, RAN binding protein 5	KPNB3, RANBP5	NA	9114010, 9271386, 17005651	Standard	NM_002271	NM_002271	NA	Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000261574.5:c.2226G>A	13.37:g.98666315G>A		NA	B4DZA0|O15257|Q5T578|Q86XC7	37	CCDS31999.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	10.67	1.415607	0.25552	.	.	ENSG00000065150	ENST00000469360	.	.	.	5.75	-3.63	0.04529	.	.	.	.	.	T	0.48537	0.1505	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45293	-0.9271	4	.	.	.	-3.754	6.4092	0.21682	0.4783:0.338:0.1837:0.0	.	.	.	.	Q	726	.	.	R	+	2	0	IPO5	97464316	0.954000	0.32549	0.947000	0.38551	0.989000	0.77384	0.135000	0.15952	-0.437000	0.07243	-0.294000	0.09567	CGG	IPO5-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045533.2		+	ENST00000261574.5	Silent	SNP	13 : 98666315 - 98666315 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	405	7
ITPR2	3709	broad.mit.edu	37	12	26809320	26809321	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:26809320_26809321insT	ENST00000381340.3	-	19	2769_2770	c.2353_2354insA	c.(2353-2355)atgfs	p.M785fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	785					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTCAACGTGCATGTGGAGCATG	0.554		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104	3709	3709		Ion channels / Inositol triphosphate receptors	6181	protein-coding gene	gene with protein product	cilia and flagella associated protein 48	600144	inositol 1,4,5-triphosphate receptor, type 2		NA	8081734	Standard	NM_002223	XM_006719064	NA	Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2354dupA	12.37:g.26809321_26809321dupT	ENSP00000370744:p.Met785fs	NA	O94773	37	CCDS41764.1																																																																																			ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402732.1		-	ENST00000381340.3	Frame_Shift_Ins	INS	12 : 26809320 - 26809321 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	305	105
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403							protein binding	p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				7	Substitution - Missense(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)											112	104	107			NA	NA	13		NA											NA				41705440		2203	4300	6503	SO:0001583	missense			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572	89890	89890		BTB/POZ domain containing	25340	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152903	NM_152903	NA	Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys	NA	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044657.1		-	ENST00000379485.1	Missense_Mutation	SNP	13 : 41705440 - 41705440 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	374	5
KCNQ5	56479	broad.mit.edu	37	6	73830223	73830223	+	Silent	SNP	C	C	T	rs144427126		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:73830223C>T	ENST00000342056.2	+	8	1541	c.1143C>T	c.(1141-1143)taC>taT	p.Y381Y	KCNQ5_ENST00000403813.2_Silent_p.Y381Y|KCNQ5_ENST00000370392.1_Silent_p.Y381Y|KCNQ5_ENST00000370398.1_Silent_p.Y381Y|KCNQ5_ENST00000414165.2_Silent_p.Y381Y|KCNQ5_ENST00000402622.2_Silent_p.Y381Y|KCNQ5_ENST00000355194.4_Silent_p.Y381Y|KCNQ5_ENST00000355635.3_Silent_p.Y381Y	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	381					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GGCGTAGTTACGCAGCTGATG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(142;1375 1859 14391 23261 44706)							NA				0								T	,,,,	0,4406		0,0,2203	91	73	79		1143,1143,1143,1143,1143	-2.7	1	6	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNQ5	NM_001160130.1,NM_001160132.1,NM_001160133.1,NM_001160134.1,NM_019842.3	,,,,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,,,,	381/924,381/943,381/952,381/823,381/933	73830223	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760	56479	56479		Potassium channels, Voltage-gated ion channels / Potassium channels	6299	protein-coding gene	gene with protein product		607357			NA	10787416, 10816588, 16382104	Standard	NM_019842	NM_019842	NA	Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000342056.2:c.1143C>T	6.37:g.73830223C>T		NA	B5MC83|B7ZL37|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	37	CCDS55034.1																																																																																			KCNQ5-006	NOVEL	not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316124.1		+	ENST00000342056.2	Silent	SNP	6 : 73830223 - 73830223 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	239	15
KIAA1210	57481	broad.mit.edu	37	X	118221146	118221146	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:118221146C>A	ENST00000402510.2	-	11	4046	c.4047G>T	c.(4045-4047)aaG>aaT	p.K1349N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1349										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCACTGGGCCCTTTGATGACA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	203	206			NA	NA	X		NA											NA				118221146		1956	4136	6092	SO:0001583	missense			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423	57481	57481			29218	protein-coding gene	gene with protein product					NA	10574462	Standard	NM_020721	NM_020721	NA	Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4047G>T	X.37:g.118221146C>A	ENSP00000384670:p.Lys1349Asn	NA	B7ZCI8|Q5JPN4	37	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.053|4.053	0.007534|0.007534	0.07866|0.07866	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.10382	.|2.88	4.47|4.47	-5.1|-5.1	0.02911|0.02911	.|.	.|.	.|.	.|.	.|.	T|T	0.03827|0.03827	0.0108|0.0108	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.29508	.|0.246	.|B	.|0.23716	.|0.048	T|T	0.44298|0.44298	-0.9337|-0.9337	5|9	.|0.18276	.|T	.|0.48	.|.	7.1739|7.1739	0.25734|0.25734	0.0:0.1921:0.1243:0.6836|0.0:0.1921:0.1243:0.6836	.|.	.|1349	.|Q9ULL0	.|K1210_HUMAN	W|N	756|1349	.|ENSP00000384670:K1349N	.|ENSP00000384670:K1349N	G|K	-|-	1|3	0|2	KIAA1210|RP13-347D8.6	118105174|118105174	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.044000|-0.044000	0.12023|0.12023	-1.290000|-1.290000	0.02372|0.02372	-0.322000|-0.322000	0.08575|0.08575	GGG|AAG	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371251.2		-	ENST00000402510.2	Missense_Mutation	SNP	X : 118221146 - 118221146 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	682	87
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	317	89
KRTAP24-1	643803	broad.mit.edu	37	21	31654689	31654689	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr21:31654689C>T	ENST00000340345.4	-	1	587	c.562G>A	c.(562-564)Gtc>Atc	p.V188I		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	188						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AATGGTGAGACGTAGCTGGGT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	126	127			NA	NA	21		NA											NA				31654689		1872	4106	5978	SO:0001583	missense			AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694	643803	643803		Keratin associated proteins	33902	protein-coding gene	gene with protein product					NA		Standard	NM_001085455	NM_001085455	NA	Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.562G>A	21.37:g.31654689C>T	ENSP00000339238:p.Val188Ile	NA	Q1XDX0	37	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	c	0.016	-1.524270	0.00959	.	.	ENSG00000188694	ENST00000340345	T	0.03889	3.77	4.8	0.977	0.19733	.	0.648359	0.14303	N	0.328131	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	B	0.21688	0.059	B	0.17722	0.019	T	0.46247	-0.9205	10	0.25106	T	0.35	-4.483	2.1659	0.03837	0.5894:0.1668:0.09:0.1539	.	188	Q3LI83	KR241_HUMAN	I	188	ENSP00000339238:V188I	ENSP00000339238:V188I	V	-	1	0	KRTAP24-1	30576560	0.766000	0.28496	0.020000	0.16555	0.034000	0.12701	0.517000	0.22832	0.070000	0.16634	-1.971000	0.00464	GTC	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246806.2		-	ENST00000340345.4	Missense_Mutation	SNP	21 : 31654689 - 31654689 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	512	159
KRTAP5-8	57830	broad.mit.edu	37	11	71249298	71249298	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:71249298C>G	ENST00000398534.3	+	1	228	c.197C>G	c.(196-198)tCc>tGc	p.S66C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	66	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TGTGGGGGCTCCAAGGGGGAC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	123	112			NA	NA	11		NA											NA				71249298		2195	4294	6489	SO:0001583	missense			AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233	57830	57830		Keratin associated proteins	23603	protein-coding gene	gene with protein product					NA	15144888	Standard	NM_021046	NM_021046	NA	Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.197C>G	11.37:g.71249298C>G	ENSP00000420723:p.Ser66Cys	NA	Q6L8G7|Q6UTX6	37	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	-	0.044	-1.272812	0.01421	.	.	ENSG00000241233	ENST00000398534	T	0.01464	4.86	1.57	-2.72	0.05968	.	.	.	.	.	T	0.00906	0.0030	N	0.05177	-0.1	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.47407	-0.9120	9	0.66056	D	0.02	.	1.4457	0.02364	0.2034:0.2381:0.404:0.1545	.	66	O75690	KRA58_HUMAN	C	66	ENSP00000420723:S66C	ENSP00000420723:S66C	S	+	2	0	KRTAP5-8	70926946	0.625000	0.27111	0.316000	0.25252	0.039000	0.13416	-0.432000	0.06956	-0.741000	0.04797	-0.287000	0.09952	TCC	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000127954.1		+	ENST00000398534.3	Missense_Mutation	SNP	11 : 71249298 - 71249298 G PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	955	15
LRP1B	53353	broad.mit.edu	37	2	141243054	141243054	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:141243054C>T	ENST00000389484.3	-	59	10254	c.9283G>A	c.(9283-9285)Gat>Aat	p.D3095N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3095					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAATCCAATCGACAGCAAGT	0.373		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													128	119	122			NA	NA	2		NA											NA				141243054		2203	4300	6503	SO:0001583	missense			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9283G>A	2.37:g.141243054C>T	ENSP00000374135:p.Asp3095Asn	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	36	5.839800	0.97009	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.98876	-5.2	5.43	5.43	0.79202	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99324	0.9763	M	0.90369	3.11	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99146	1.0857	10	0.87932	D	0	.	19.5951	0.95533	0.0:1.0:0.0:0.0	.	3095	Q9NZR2	LRP1B_HUMAN	N	3095;3033	ENSP00000374135:D3095N	ENSP00000374135:D3095N	D	-	1	0	LRP1B	140959524	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.501000	0.81600	2.693000	0.91896	0.650000	0.86243	GAT	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Missense_Mutation	SNP	2 : 141243054 - 141243054 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	359	5
LRRC4	64101	broad.mit.edu	37	7	127668984	127668984	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:127668984C>T	ENST00000249363.3	-	2	1967	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	570						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CTTCGTCCACCTGGATTATCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	69	75			NA	NA	7		NA											NA				127668984		2203	4300	6503	SO:0001819	synonymous_variant			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594	64101	64101		Immunoglobulin superfamily / I-set domain containing	15586	protein-coding gene	gene with protein product		610486	leucine-rich repeat-containing 4		NA	12969517	Standard	NM_022143	NM_022143	NA	Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.1710G>A	7.37:g.127668984C>T		NA	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	37	CCDS5799.1																																																																																			LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349170.1		-	ENST00000249363.3	Silent	SNP	7 : 127668984 - 127668984 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	88	38
MATN1	4146	broad.mit.edu	37	1	31191606	31191606	+	Silent	SNP	T	T	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:31191606T>G	ENST00000373765.4	-	3	675	c.640A>C	c.(640-642)Agg>Cgg	p.R214R	MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414532.2_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	214	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAACTTCCTGGACAGCTTC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	38	39			NA	NA	1		NA											NA				31191606		2203	4300	6503	SO:0001819	synonymous_variant			M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510	4146	4146			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP	NA	2246248, 9083061	Standard	NM_002379	NM_002379	NA	Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.640A>C	1.37:g.31191606T>G		NA	B2R7E3|Q5TBB9	37	CCDS336.1																																																																																			MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010458.1		-	ENST00000373765.4	Silent	SNP	1 : 31191606 - 31191606 G PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	85	37
MCF2L	23263	broad.mit.edu	37	13	113742040	113742040	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:113742040C>T	ENST00000397030.1	+	23	2751	c.2714C>T	c.(2713-2715)aCg>aTg	p.T905M	MCF2L_ENST00000421756.1_Missense_Mutation_p.T876M|MCF2L_ENST00000434480.2_Missense_Mutation_p.T878M|MCF2L_ENST00000442652.2_Missense_Mutation_p.T902M|MCF2L_ENST00000423482.2_Missense_Mutation_p.T870M|MCF2L_ENST00000375597.4_Missense_Mutation_p.T870M|MCF2L_ENST00000375608.3_Missense_Mutation_p.T902M|MCF2L_ENST00000375604.2_Missense_Mutation_p.T929M|MCF2L_ENST00000535094.2_Missense_Mutation_p.T872M|MCF2L_ENST00000375601.3_Missense_Mutation_p.T876M			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	902	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GTTGGCATTACGGAGAACGTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	102	121			NA	NA	13		NA											NA				113742040		2203	4299	6502	SO:0001583	missense			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217	23263	23263		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	14576	protein-coding gene	gene with protein product		609499			NA	9205841	Standard		NM_001112732	NA	Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000397030.1:c.2714C>T	13.37:g.113742040C>T	ENSP00000380225:p.Thr905Met	NA	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DIL6|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.46|14.46	2.540927|2.540927	0.45280|0.45280	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000413354;ENST00000261963|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	.|T;T;T;T;T;T;T;T;T;T	.|0.76968	.|2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12;-1.06	5.08|5.08	4.24|4.24	0.50183|0.50183	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91294|0.91294	0.7255|0.7255	H|H	0.95982|0.95982	3.75|3.75	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0	D|D	0.93344|0.93344	0.6712|0.6712	5|10	.|0.87932	.|D	.|0	.|.	13.4666|13.4666	0.61258|0.61258	0.0:0.9243:0.0:0.0757|0.0:0.9243:0.0:0.0757	.|.	.|870;872;929;870;902	.|E9PDN8;O15068-9;G5E9A1;O15068-4;O15068	.|.;.;.;.;MCF2L_HUMAN	W|M	102;43|902;902;929;905;872;876;876;878;870;870;713	.|ENSP00000364758:T902M;ENSP00000401422:T902M;ENSP00000364754:T929M;ENSP00000380225:T905M;ENSP00000440374:T872M;ENSP00000397285:T876M;ENSP00000364751:T876M;ENSP00000407722:T878M;ENSP00000405639:T870M;ENSP00000364747:T870M	.|ENSP00000364747:T870M	R|T	+|+	1|2	2|0	MCF2L|MCF2L	112790041|112790041	1.000000|1.000000	0.71417|0.71417	0.440000|0.440000	0.26846|0.26846	0.010000|0.010000	0.07245|0.07245	7.611000|7.611000	0.82962|0.82962	1.132000|1.132000	0.42129|0.42129	-0.136000|-0.136000	0.14681|0.14681	CGG|ACG	MCF2L-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000045850.3		+	ENST00000397030.1	Missense_Mutation	SNP	13 : 113742040 - 113742040 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	151	40
METAP1	23173	broad.mit.edu	37	4	99982458	99982458	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:99982458C>T	ENST00000296411.6	+	11	1285	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F	METAP1_ENST00000544031.1_Missense_Mutation_p.S334F	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	384					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CACTTCATGTCTCAATTTTAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	111	110			NA	NA	4		NA											NA				99982458		1913	4128	6041	SO:0001583	missense			D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	23173	23173	3.4.11.18		15789	protein-coding gene	gene with protein product	Peptidase M	610151			NA	7788527, 12144506	Standard	NM_015143	NM_015143	NA	Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.1151C>T	4.37:g.99982458C>T	ENSP00000296411:p.Ser384Phe	NA	B4E2E6	37	CCDS47110.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208029	0.39003	.	.	ENSG00000164024	ENST00000296411;ENST00000544031;ENST00000510133;ENST00000514051	.	.	.	4.96	4.96	0.65561	.	0.167404	0.53938	D	0.000059	T	0.55609	0.1931	L	0.46157	1.445	0.58432	D	0.999998	B	0.28378	0.209	B	0.22880	0.042	T	0.52335	-0.8589	8	.	.	.	-12.7309	18.3944	0.90493	0.0:1.0:0.0:0.0	.	384	P53582	AMPM1_HUMAN	F	384;334;168;114	.	.	S	+	2	0	METAP1	100201481	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	3.563000	0.53784	2.561000	0.86390	0.655000	0.94253	TCT	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364237.1		+	ENST00000296411.6	Missense_Mutation	SNP	4 : 99982458 - 99982458 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	306	48
MYF6	4618	broad.mit.edu	37	12	81101627	81101627	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:81101627C>T	ENST00000228641.3	+	1	351	c.129C>T	c.(127-129)ccC>ccT	p.P43P		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	43					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CCTTGTCCCCCTGCCAGGACC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	72	71			NA	NA	12		NA											NA				81101627		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9019.1	12q21	2013-05-21				ENSG00000111046	4618	4618		Basic helix-loop-helix proteins	7566	protein-coding gene	gene with protein product	muscle-specific regulatory factor 4	159991			NA	8978788	Standard	NM_002469	NM_002469	NA	Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.129C>T	12.37:g.81101627C>T		NA	B2R898|Q53X80|Q6FHI9	37	CCDS9019.1																																																																																			MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407756.1		+	ENST00000228641.3	Silent	SNP	12 : 81101627 - 81101627 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	323	104
MYH2	4620	broad.mit.edu	37	17	10433385	10433385	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:10433385C>T	ENST00000532183.2	-	16	2243				RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E902K|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000245503.5_Missense_Mutation_p.E902K|RP11-799N11.1_ENST00000581304.1_RNA			Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	NA					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCCAAGCCTTCGGCTTCCTTA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	130	131			NA	NA	17		NA											NA				10433385		2203	4300	6503	SO:0001627	intron_variant				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414	4620	4620		Myosins / Myosin superfamily : Class II	7572	protein-coding gene	gene with protein product		160740	myosin, heavy polypeptide 2, skeletal muscle, adult, inclusion body myopathy 3, autosomal dominant	IBM3	NA	7545970, 11889243	Standard	NM_017534	NM_001100112	NA	Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000532183.2:c.1974+6461G>A	17.37:g.10433385C>T		NA	A0AVL4|Q14322|Q16229|Q86T56	37		.	.	.	.	.	.	.	.	.	.	C	19.17	3.774792	0.70107	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83755	-1.76;-1.76	5.15	5.15	0.70609	.	0.176467	0.26605	U	0.023460	D	0.89269	0.6667	H	0.95004	3.61	0.58432	D	0.999992	P	0.35411	0.5	B	0.37422	0.249	D	0.91254	0.5031	10	0.72032	D	0.01	.	18.795	0.91990	0.0:1.0:0.0:0.0	.	902	Q9UKX2	MYH2_HUMAN	K	902	ENSP00000245503:E902K;ENSP00000380367:E902K	ENSP00000245503:E902K	E	-	1	0	MYH2	10374110	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.361000	0.79497	2.661000	0.90470	0.591000	0.81541	GAA	MYH2-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394461.43		-	ENST00000532183.2	Intron	SNP	17 : 10433385 - 10433385 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	449	6
MYOM2	9172	broad.mit.edu	37	8	2092682	2092682	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:2092682C>T	ENST00000262113.4	+	37	4316	c.4175C>T	c.(4174-4176)tCg>tTg	p.S1392L	MYOM2_ENST00000523438.1_Missense_Mutation_p.S817L|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1392	Ig-like C2-type 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAGCACTTCTCGGTGAAGGTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LEU/SER	4,4402	8.1+/-20.4	0,4,2199	118	100	106		4175	-3.6	0	8		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYOM2	NM_003970.2	145	0,5,6498	TT,TC,CC	NA	0.0116,0.0908,0.0384	benign	1392/1466	2092682	5,13001	2203	4300	6503	SO:0001583	missense				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448	9172	9172		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	7614	protein-coding gene	gene with protein product		603509	myomesin (M-protein) 2 (165kD), myomesin (M-protein) 2, 165kDa		NA		Standard	NM_003970	XM_006716237	NA	Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.4175C>T	8.37:g.2092682C>T	ENSP00000262113:p.Ser1392Leu	NA	Q7Z3Y2	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	9.137	1.012872	0.19277	9.08E-4	1.16E-4	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.67865	-0.29;-0.29	5.24	-3.6	0.04570	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.978980	0.01974	N	0.044348	T	0.49406	0.1555	N	0.21240	0.645	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.25606	-1.0127	10	0.27785	T	0.31	.	6.7144	0.23294	0.184:0.3622:0.0:0.4538	.	1392	P54296	MYOM2_HUMAN	L	1392;817	ENSP00000262113:S1392L;ENSP00000428396:S817L	ENSP00000262113:S1392L	S	+	2	0	MYOM2	2080089	0.000000	0.05858	0.000000	0.03702	0.586000	0.36452	-1.046000	0.03525	-0.582000	0.05929	0.655000	0.94253	TCG	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251249.1		+	ENST00000262113.4	Missense_Mutation	SNP	8 : 2092682 - 2092682 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	229	114
NAIP	4671	broad.mit.edu	37	5	70308630	70308630	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr5:70308630A>G	ENST00000517649.1	-	4	403	c.113T>C	c.(112-114)cTa>cCa	p.L38P	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.L38P|NAIP_ENST00000508426.2_Missense_Mutation_p.L38P|NAIP_ENST00000523981.1_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	38					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CTCTTCTTCTAGTTCCTTTGC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	135	139			NA	NA	5		NA											NA				70308630		2202	4296	6498	SO:0001583	missense			U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437	4671	4671		Baculoviral IAP repeat containing, Nucleotide-binding domain and leucine rich repeat containing	7634	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1, NLR family, BIR domain containing 1	600355	baculoviral IAP repeat-containing 1	BIRC1	NA	7813013	Standard	NM_004536	NM_022892	NA	Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.113T>C	5.37:g.70308630A>G	ENSP00000428657:p.Leu38Pro	NA	B9EG72|O75857|Q13730|Q59GI6|Q99796	37	CCDS4009.1	.	.	.	.	.	.	.	.	.	.	a	7.483	0.648990	0.14516	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.75154	-0.91;-0.91;-0.91	3.25	0.611	0.17586	.	2.100700	0.03038	U	0.152947	T	0.55049	0.1896	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.015;0.022	B;B	0.14023	0.003;0.01	T	0.47824	-0.9087	10	0.56958	D	0.05	.	4.4374	0.11557	0.6054:0.1923:0.0:0.2023	.	38;38	E7EQW0;Q13075	.;BIRC1_HUMAN	P	38	ENSP00000428657:L38P;ENSP00000443944:L38P;ENSP00000429545:L38P	ENSP00000443944:L38P	L	-	2	0	NAIP	70344386	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.847000	0.27696	0.117000	0.18138	0.352000	0.21897	CTA	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372649.6		-	ENST00000517649.1	Missense_Mutation	SNP	5 : 70308630 - 70308630 G PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	592	194
NBPF14	25832	broad.mit.edu	37	1	148017611	148017611	+	Silent	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:148017611A>G	ENST00000369219.1	-	6	688	c.672T>C	c.(670-672)ggT>ggC	p.G224G				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	224	NBPF 2.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GAGTCGAATAACCTTCATCCC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	48	44			NA	NA	1		NA											NA				148017611		1403	2580	3983	SO:0001819	synonymous_variant			AK092351		1q21.1	2013-01-17			ENSG00000122497		25832	25832		neuroblastoma breakpoint family	25232	protein-coding gene	gene with protein product		614003			NA	8619474, 9110174, 16079250	Standard	NM_015383	NM_015383	NA	Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.672T>C	1.37:g.148017611A>G		NA	Q5TI23|Q8IX76|Q9UJI9	37		.	.	.	.	.	.	.	.	.	.	a	0.613	-0.824159	0.02755	.	.	ENSG00000122497	ENST00000310701;ENST00000444640;ENST00000431121;ENST00000436356;ENST00000448574;ENST00000458135;ENST00000392972;ENST00000426874	.	.	.	.	.	.	.	.	.	.	.	T	0.08714	0.0216	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36504	-0.9745	2	.	.	.	.	.	.	.	.	.	.	.	A	230;235;235;235;235;235;235;235	.	.	V	-	2	0	NBPF14	146484235	0.998000	0.40836	0.001000	0.08648	0.001000	0.01503	0.794000	0.26958	-0.557000	0.06126	-0.558000	0.04189	GTT	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			-	ENST00000369219.1	Silent	SNP	1 : 148017611 - 148017611 G PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	2251	237
NPY1R	4886	broad.mit.edu	37	4	164246771	164246771	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:164246771G>A	ENST00000296533.2	-	3	1370	c.839C>T	c.(838-840)aCc>aTc	p.T280I	NPY1R_ENST00000509586.1_Missense_Mutation_p.T37I	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	280					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTTAAAGATGGTAAGAGGGAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	82	83			NA	NA	4		NA											NA				164246771		2203	4300	6503	SO:0001583	missense				CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128	NA	4886		GPCR / Class A : Neuropeptide receptors : Y	7956	protein-coding gene	gene with protein product		162641		NPYR	NA	8095935	Standard		NM_000909	NA	Approved		uc003iqm.2	P25929		ENST00000296533.2:c.839C>T	4.37:g.164246771G>A	ENSP00000354652:p.Thr280Ile	NA	B2R6H5	37	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729970	0.30684	.	.	ENSG00000164128	ENST00000296533;ENST00000509586;ENST00000504391	T;T;T	0.54479	0.57;0.57;1.24	5.71	5.71	0.89125	GPCR, rhodopsin-like superfamily (1);	0.544480	0.19310	N	0.117412	T	0.50309	0.1608	L	0.47016	1.485	0.40849	D	0.983732	P	0.36027	0.533	B	0.40038	0.317	T	0.49495	-0.8934	10	0.39692	T	0.17	.	13.1127	0.59283	0.073:0.0:0.927:0.0	.	280	P25929	NPY1R_HUMAN	I	280;37;37	ENSP00000354652:T280I;ENSP00000427284:T37I;ENSP00000422963:T37I	ENSP00000354652:T280I	T	-	2	0	NPY1R	164466221	1.000000	0.71417	0.997000	0.53966	0.623000	0.37688	2.769000	0.47654	2.702000	0.92279	0.563000	0.77884	ACC	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364685.1		-	ENST00000296533.2	Missense_Mutation	SNP	4 : 164246771 - 164246771 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	236	83
NYNRIN	57523	broad.mit.edu	37	14	24868592	24868593	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr14:24868592_24868593delAC	ENST00000382554.3	+	2	458_459	c.140_141delAC	c.(139-141)gacfs	p.D47fs		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	47					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGCCGCCCGGACACCCCCTACT	0.604		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978	57523	57523			20165	protein-coding gene	gene with protein product	Cousin of GIN1		KIAA1305	KIAA1305	NA	19561090, 17114934	Standard		NM_025081	NA	Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.140_141delAC	14.37:g.24868594_24868595delAC	ENSP00000371994:p.Asp47fs	NA	Q6P153|Q86TR3|Q9HAC4	37	CCDS45090.1																																																																																			NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412939.1		+	ENST00000382554.3	Frame_Shift_Del	DEL	14 : 24868592 - 24868593 - PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	81	18
OR10H4	126541	broad.mit.edu	37	19	16060573	16060573	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:16060573G>A	ENST00000322107.1	+	1	756	c.756G>A	c.(754-756)acG>acA	p.T252T		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TGGTGGTCACGCACTATAGTT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	141	151			NA	NA	19		NA											NA				16060573		2203	4300	6503	SO:0001819	synonymous_variant			AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231	126541	126541		GPCR / Class A : Olfactory receptors	15388	protein-coding gene	gene with protein product					NA		Standard		NM_001004465	NA	Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.756G>A	19.37:g.16060573G>A		NA	Q6IFJ2|Q96R57	37	CCDS32941.1																																																																																			OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460311.1		+	ENST00000322107.1	Silent	SNP	19 : 16060573 - 16060573 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	464	15
OR5M8	219484	broad.mit.edu	37	11	56258789	56258789	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:56258789G>A	ENST00000327216.2	-	1	82	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGTAATTCCCGGCGACTGGTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	84	82			NA	NA	11		NA											NA				56258789		2201	4296	6497	SO:0001583	missense			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371	219484	219484		GPCR / Class A : Olfactory receptors	14846	protein-coding gene	gene with protein product					NA		Standard	NM_001005282	NM_001005282	NA	Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.58C>T	11.37:g.56258789G>A	ENSP00000323354:p.Arg20Trp	NA	B2RNM5|Q6IEW3|Q96RB8	37	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	9.701	1.154606	0.21371	.	.	ENSG00000181371	ENST00000327216	T	0.00012	9.32	4.13	-0.307	0.12777	.	1.292630	0.06259	U	0.693636	T	0.00073	0.0002	N	0.11023	0.085	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.14282	-1.0478	10	0.87932	D	0	0.1659	2.6013	0.04867	0.0964:0.1586:0.2929:0.4521	.	20	Q8NGP6	OR5M8_HUMAN	W	20	ENSP00000323354:R20W	ENSP00000323354:R20W	R	-	1	2	OR5M8	56015365	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.367000	0.20382	-0.005000	0.14395	-1.826000	0.00596	CGG	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391641.1		-	ENST00000327216.2	Missense_Mutation	SNP	11 : 56258789 - 56258789 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	451	139
OTOGL	283310	broad.mit.edu	37	12	80747175	80747175	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:80747175C>A	ENST00000547103.1	+	45	5421	c.5415C>A	c.(5413-5415)aaC>aaA	p.N1805K	OTOGL_ENST00000458043.2_Missense_Mutation_p.N1817K					otogelin-like	NA										breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CATGCCTGAACCAATGGTTCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	72	73			NA	NA	12		NA											NA				80747175		1946	4133	6079	SO:0001583	missense			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899	283310	283310			26901	protein-coding gene	gene with protein product		614925	chromosome 12 open reading frame 64	C12orf64	NA		Standard	NM_173591	NM_173591	NA	Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.5415C>A	12.37:g.80747175C>A	ENSP00000447211:p.Asn1805Lys	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.43|18.43	3.623012|3.623012	0.66901|0.66901	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000547103;ENST00000458043|ENST00000298820	D;D|.	0.81821|.	-1.54;-1.54|.	5.74|5.74	0.755|0.755	0.18415|0.18415	.|.	.|.	.|.	.|.	.|.	T|T	0.67382|0.67382	0.2887|0.2887	M|M	0.90198|0.90198	3.095|3.095	0.28923|0.28923	N|N	0.892009|0.892009	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.63171|0.63171	-0.6697|-0.6697	7|5	0.49607|.	T|.	0.09|.	.|.	8.2181|8.2181	0.31526|0.31526	0.0:0.4404:0.0:0.5596|0.0:0.4404:0.0:0.5596	.|.	.|.	.|.	.|.	K|N	1805;1817|260	ENSP00000447211:N1805K;ENSP00000400895:N1817K|.	ENSP00000400895:N1817K|.	N|T	+|+	3|2	2|0	OTOGL|OTOGL	79271306|79271306	0.609000|0.609000	0.26975|0.26975	0.986000|0.986000	0.45419|0.45419	0.977000|0.977000	0.68977|0.68977	0.756000|0.756000	0.26419|0.26419	0.355000|0.355000	0.24131|0.24131	0.655000|0.655000	0.94253|0.94253	AAC|ACC	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000407438.1		+	ENST00000547103.1	Missense_Mutation	SNP	12 : 80747175 - 80747175 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	54	19
PBRM1	55193	broad.mit.edu	37	3	52651382	52651382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:52651382C>A	ENST00000409114.3	-	15	1761	c.1759G>T	c.(1759-1761)Gag>Tag	p.E587*	PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E572*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E572*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.E540*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.E572*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E572*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E572*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E587*			Q86U86	PB1_HUMAN	polybromo 1	572	Bromo 4.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.E572fs*16(2)|p.E540fs*16(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGTTATGCTCAATTATTTTC	0.398		NA	Mis, N, F, S, D, O		clear cell renal carcinoma, breast									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		3	3p21	55193	polybromo 1		E	3	Insertion - Frameshift(3)	kidney(3)											119	115	117			NA	NA	3		NA											NA				52651382		2203	4300	6503	SO:0001587	stop_gained			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939	55193	55193			30064	protein-coding gene	gene with protein product		606083			NA	11078522, 11483580	Standard	NM_018165	NM_018313	NA	Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000409114.3:c.1759G>T	3.37:g.52651382C>A	ENSP00000386643:p.Glu587*	NA	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	37		.	.	.	.	.	.	.	.	.	.	C	39	7.497543	0.98322	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-5.8047	20.139	0.98050	0.0:1.0:0.0:0.0	.	.	.	.	X	540;572;572;572;572;572;587;587;572;531	.	ENSP00000296302:E572X	E	-	1	0	PBRM1	52626422	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.764000	0.94973	0.655000	0.94253	GAG	PBRM1-006	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000327230.1		-	ENST00000409114.3	Nonsense_Mutation	SNP	3 : 52651382 - 52651382 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	213	5
PBRM1	55193	broad.mit.edu	37	3	52651477	52651477	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:52651477C>G	ENST00000409114.3	-	15	1666	c.1664G>C	c.(1663-1665)aGa>aCa	p.R555T	PBRM1_ENST00000410007.1_Missense_Mutation_p.R540T|PBRM1_ENST00000337303.4_Missense_Mutation_p.R540T|PBRM1_ENST00000356770.4_Missense_Mutation_p.R508T|PBRM1_ENST00000296302.7_Missense_Mutation_p.R540T|PBRM1_ENST00000394830.3_Missense_Mutation_p.R540T|PBRM1_ENST00000409057.1_Missense_Mutation_p.R540T|PBRM1_ENST00000409767.1_Missense_Mutation_p.R555T			Q86U86	PB1_HUMAN	polybromo 1	540	Bromo 4.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACAAAGTCTTCTGCCTGAACC	0.368		NA	Mis, N, F, S, D, O		clear cell renal carcinoma, breast									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		3	3p21	55193	polybromo 1		E	0													98	98	98			NA	NA	3		NA											NA				52651477		2203	4300	6503	SO:0001583	missense			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939	55193	55193			30064	protein-coding gene	gene with protein product		606083			NA	11078522, 11483580	Standard	NM_018165	NM_018313	NA	Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000409114.3:c.1664G>C	3.37:g.52651477C>G	ENSP00000386643:p.Arg555Thr	NA	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	37		.	.	.	.	.	.	.	.	.	.	C	29.0	4.968582	0.92855	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.84	5.84	0.93424	Bromodomain (4);	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	H	0.95224	3.64	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.998;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D;D;D	0.97110	0.998;0.999;0.99;0.997;0.994;0.999;1.0;0.996;0.996	T	0.73626	-0.3923	10	0.87932	D	0	-3.581	20.139	0.98050	0.0:1.0:0.0:0.0	.	540;540;540;540;555;555;540;508;540	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	T	508;540;540;540;540;540;555;555;540;499	ENSP00000349213:R508T;ENSP00000378307:R540T;ENSP00000296302:R540T;ENSP00000338302:R540T;ENSP00000386593:R540T;ENSP00000386529:R540T;ENSP00000386643:R555T;ENSP00000386601:R555T;ENSP00000387775:R540T;ENSP00000397662:R499T	ENSP00000296302:R540T	R	-	2	0	PBRM1	52626517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.764000	0.94973	0.655000	0.94253	AGA	PBRM1-006	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000327230.1		-	ENST00000409114.3	Missense_Mutation	SNP	3 : 52651477 - 52651477 G PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	221	7
PDLIM5	10611	broad.mit.edu	37	4	95444888	95444888	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:95444888G>A	ENST00000514743.1	+	2	154	c.110G>A	c.(109-111)gGc>gAc	p.G37D	PDLIM5_ENST00000380180.3_Missense_Mutation_p.G37D|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000450793.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000437932.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000508216.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000538141.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000317968.4_Missense_Mutation_p.G37D|PDLIM5_ENST00000318007.5_Missense_Mutation_p.G37D	NM_001256426.1	NP_001243355	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	37	PDZ.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AAAGATGGCGGCAAGGCAGCC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	80	81			NA	NA	4		NA											NA				95444888		2203	4300	6503	SO:0001583	missense			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110	10611	10611			17468	protein-coding gene	gene with protein product		605904			NA	15346770	Standard		NM_006457	NA	Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000514743.1:c.110G>A	4.37:g.95444888G>A	ENSP00000424360:p.Gly37Asp	NA	A8K6F9|O60705|Q5UW38|Q8WVK0	37	CCDS58916.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.9|28.9	4.962750|4.962750	0.92791|0.92791	.|.	.|.	ENSG00000163110|ENSG00000163110	ENST00000513341|ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000503974;ENST00000508216;ENST00000514743	.|T;T;T;T;T;T;T;T;T	.|0.53206	.|0.63;0.63;0.63;1.8;1.8;0.63;0.63;0.63;0.63	5.96|5.96	5.96|5.96	0.96718|0.96718	.|PDZ/DHR/GLGF (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79902|0.79902	0.4526|0.4526	H|H	0.95470|0.95470	3.675|3.675	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0;0.991	.|D;D;D;D;D;D	.|0.97110	.|0.996;1.0;0.998;0.991;0.999;0.982	D|D	0.84745|0.84745	0.0753|0.0753	5|10	.|0.72032	.|D	.|0.01	.|.	20.0147|20.0147	0.97475|0.97475	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|37;37;37;37;37;37	.|E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3	.|.;.;PDLI5_HUMAN;.;.;.	T|D	5|37	.|ENSP00000398469:G37D;ENSP00000369527:G37D;ENSP00000322021:G37D;ENSP00000401579:G37D;ENSP00000439795:G37D;ENSP00000321746:G37D;ENSP00000424297:G37D;ENSP00000426804:G37D;ENSP00000424360:G37D	.|ENSP00000321746:G37D	A|G	+|+	1|2	0|0	PDLIM5|PDLIM5	95663911|95663911	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.982000|0.982000	0.71751|0.71751	9.143000|9.143000	0.94623|0.94623	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	GCA|GGC	PDLIM5-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362993.1		+	ENST00000514743.1	Missense_Mutation	SNP	4 : 95444888 - 95444888 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	165	5
PKD2	5311	broad.mit.edu	37	4	88986632	88986632	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:88986632G>A	ENST00000508588.1	+	6	874	c.479G>A	c.(478-480)cGa>cAa	p.R160Q	PKD2_ENST00000237596.2_Missense_Mutation_p.R742Q|PKD2_ENST00000502363.1_Missense_Mutation_p.R160Q|PKD2_ENST00000511337.1_3'UTR			Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	742						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GACGAACTTCGACAAGATCTC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	80	81			NA	NA	4		NA											NA				88986632		2203	4300	6503	SO:0001583	missense			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762	5311	5311		Voltage-gated ion channels / Transient receptor potential cation channels, EF-hand domain containing	9009	protein-coding gene	gene with protein product	transient receptor potential cation channel, subfamily P, member 2	173910			NA	8298643	Standard	NM_000297	NM_000297	NA	Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.479G>A	4.37:g.88986632G>A	ENSP00000427131:p.Arg160Gln	NA	O60441|Q15764|Q2M1Q3|Q2M1Q5	37		.	.	.	.	.	.	.	.	.	.	G	23.2	4.381910	0.82792	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;T;T	0.56103	0.48;0.48;0.48	5.89	5.03	0.67393	EF-hand-like domain (1);	0.062020	0.64402	D	0.000003	T	0.69584	0.3127	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.70146	-0.4952	10	0.40728	T	0.16	-9.2108	16.2716	0.82624	0.0:0.0:0.8663:0.1336	.	742	Q13563	PKD2_HUMAN	Q	742;160;160	ENSP00000237596:R742Q;ENSP00000427131:R160Q;ENSP00000425289:R160Q	ENSP00000237596:R742Q	R	+	2	0	PKD2	89205656	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	7.580000	0.82523	1.454000	0.47793	0.655000	0.94253	CGA	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363253.2		+	ENST00000508588.1	Missense_Mutation	SNP	4 : 88986632 - 88986632 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	329	87
PLCXD1	55344	broad.mit.edu	37	X	215966	215966	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:215966C>T	ENST00000381657.2	+	7	1450	c.936C>T	c.(934-936)gaC>gaT	p.D312D	PLCXD1_ENST00000381663.3_Silent_p.D312D|PLCXD1_ENST00000399012.1_Silent_p.D312D	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	312					intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCGTCAGTGACGTCATCGCGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	79	82			NA	NA	X		NA											NA				215966		2203	4296	6499	SO:0001819	synonymous_variant			AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378	55344	55344		Pseudoautosomal regions / PAR1	23148	protein-coding gene	gene with protein product					NA		Standard	NM_018390	NM_018390	NA	Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.936C>T	X.37:g.215966C>T		NA	A2BH51|A2BH52	37	CCDS14103.1																																																																																			PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058879.2		+	ENST00000381657.2	Silent	SNP	X : 215966 - 215966 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	171	118
PPP2R1A	5518	broad.mit.edu	37	19	52724361	52724361	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:52724361G>A	ENST00000322088.6	+	12	1551	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R443H|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R319H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	498	PP2A subunit C binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TACCTGCACCGCATGACTACG	0.572		NA	Mis		clear cell ovarian carcinoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom?	yes		19	19q13.41	5518	protein phosphatase 2, regulatory subunit A, alpha		E	0													168	139	149			NA	NA	19		NA											NA				52724361		2203	4300	6503	SO:0001583	missense				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	5518	5518	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits	9302	protein-coding gene	gene with protein product	protein phosphatase 2A, regulatory subunit A, alpha isoform, protein phosphatase 2, 65kDa regulatory subunit A	605983	protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform, protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform		NA		Standard	NM_014225	NR_033500	NA	Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1493G>A	19.37:g.52724361G>A	ENSP00000324804:p.Arg498His	NA	Q13773|Q6ICQ3|Q96DH3	37	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118398	0.77323	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000436460;ENST00000444322	T;T	0.55052	0.54;0.54	4.67	3.63	0.41609	Armadillo-like helical (1);Armadillo-type fold (1);	0.100234	0.40144	N	0.001161	T	0.79621	0.4477	H	0.96662	3.86	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84438	0.0581	10	0.87932	D	0	-9.5593	10.7389	0.46141	0.0931:0.0:0.9069:0.0	.	443;498	F5H3X9;P30153	.;2AAA_HUMAN	H	488;418;498;65;443	ENSP00000324804:R498H;ENSP00000415067:R443H	ENSP00000324804:R498H	R	+	2	0	PPP2R1A	57416173	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	8.837000	0.92110	1.325000	0.45301	0.655000	0.94253	CGC	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000267967.2		+	ENST00000322088.6	Missense_Mutation	SNP	19 : 52724361 - 52724361 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	351	7
PSME4	23198	broad.mit.edu	37	2	54093911	54093911	+	Silent	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:54093911T>C	ENST00000404125.1	-	45	5425	c.5370A>G	c.(5368-5370)gcA>gcG	p.A1790A	PSME4_ENST00000421748.2_Silent_p.A934A|PSME4_ENST00000476586.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1790					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CATTTAGATGTGCACTGAGAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	101	107			NA	NA	2		NA											NA				54093911		2203	4300	6503	SO:0001819	synonymous_variant			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878	23198	23198		Proteasome (prosome, macropain) subunits	20635	protein-coding gene	gene with protein product		607705			NA	7584044, 12093752	Standard	XM_040158	NM_014614	NA	Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.5370A>G	2.37:g.54093911T>C		NA	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	37	CCDS33197.2																																																																																			PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324163.1		-	ENST00000404125.1	Silent	SNP	2 : 54093911 - 54093911 C PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	78	44
PTBP3	9991	broad.mit.edu	37	9	114990659	114990659	+	Splice_Site	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:114990659C>T	ENST00000374257.1	-	11	1396		c.e11+1		PTBP3_ENST00000343327.2_Splice_Site|PTBP3_ENST00000374255.2_Splice_Site|PTBP3_ENST00000458258.1_Splice_Site|PTBP3_ENST00000334318.6_Splice_Site	NM_001163788.2|NM_001244896.1|NM_001244897.1	NP_001157260.1|NP_001231825.1|NP_001231826.1	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3	NA					anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding				NA						atCATTAGTACCTAGCTGAGC	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	76	77			NA	NA	9		NA											NA				114990659		2203	4300	6503	SO:0001630	splice_region_variant			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314	9991	9991		RNA binding motif (RRM) containing	10253	protein-coding gene	gene with protein product		607527	regulator of differentiation (in S. pombe) 1, ROD1 regulator of differentiation 1 (S. pombe)	ROD1	NA	10207106	Standard		NM_005156	NA	Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374257.1:c.1147+1G>A	9.37:g.114990659C>T		NA	B1ALY3|Q68DB9|Q86YB3|Q86YH9	37	CCDS55332.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652319	0.88056	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4289	0.94756	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ROD1	114030480	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	7.339000	0.79282	2.770000	0.95276	0.655000	0.94253	.	PTBP3-004	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053677.1	Intron	-	ENST00000374257.1	Splice_Site	SNP	9 : 114990659 - 114990659 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	238	8
PZP	5858	broad.mit.edu	37	12	9303328	9303328	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:9303328C>T	ENST00000261336.2	-	34	4324	c.4296G>A	c.(4294-4296)acG>acA	p.T1432T	PZP_ENST00000381997.2_Silent_p.T1218T	NM_002864.2	NP_002855.2			pregnancy-zone protein	NA										breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AAAAACTTAGCGTCTGATTTG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(125;1402 1695 4685 34487 38571)							NA				0													107	103	105			NA	NA	12		NA											NA				9303328		2203	4300	6503	SO:0001819	synonymous_variant			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838	5858	5858			9750	protein-coding gene	gene with protein product		176420			NA		Standard	NM_002864	NM_002864	NA	Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.4296G>A	12.37:g.9303328C>T		NA		37	CCDS8600.1																																																																																			PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337624.1		-	ENST00000261336.2	Silent	SNP	12 : 9303328 - 9303328 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	329	99
RAB12	201475	broad.mit.edu	37	18	8636248	8636249	+	Splice_Site	DEL	CA	CA	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr18:8636248_8636249delCA	ENST00000329286.6	+	5	799		c.e5-1		RP11-661O13.1_ENST00000580267.1_RNA	NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	NA					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TGTTTCTTCTCAGTTTGCACAG	0.495		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001630	splice_region_variant				CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418	201475	201475		RAB, member RAS oncogene	31332	protein-coding gene	gene with protein product					NA		Standard	XM_113967	NM_001025300	NA	Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.517-1CA>-	18.37:g.8636248_8636249delCA		NA	A6NEF5|Q4KMQ3	37	CCDS42410.1																																																																																			RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444080.1	Intron	+	ENST00000329286.6	Splice_Site	DEL	18 : 8636248 - 8636249 - PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	172	57
RPGR	6103	broad.mit.edu	37	X	38158301	38158301	+	Silent	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:38158301A>G	ENST00000378505.2	-	10	1329	c.1153T>C	c.(1153-1155)Tta>Cta	p.L385L	RPGR_ENST00000339363.3_Silent_p.L385L|RPGR_ENST00000338898.3_Silent_p.L385L|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Silent_p.L385L|RPGR_ENST00000342811.3_Silent_p.L385L|RPGR_ENST00000309513.3_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	385					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GCCACAGATAAGCAAGTATCA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	83	91			NA	NA	X		NA											NA				38158301		2202	4300	6502	SO:0001819	synonymous_variant			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313	6103	6103			10295	protein-coding gene	gene with protein product		312610	retinitis pigmentosa 15, cone dystrophy 1 (X-linked)	CRD, RP3, RP15, COD1	NA	8673101, 8817343	Standard	NM_000328	XM_005272633	NA	Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000378505.2:c.1153T>C	X.37:g.38158301A>G		NA	B1ARN3|O00702|O00737|Q8N5T6|Q93039|Q9HD29|Q9UMR1	37	CCDS35229.1																																																																																			RPGR-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355888.1		-	ENST00000378505.2	Silent	SNP	X : 38158301 - 38158301 G PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	100	5
RPSA	3921	broad.mit.edu	37	3	39453425	39453425	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:39453425G>A	ENST00000301821.6	+	6	775	c.666G>A	c.(664-666)gtG>gtA	p.V222V	RPSA_ENST00000443003.1_Silent_p.V227V|RPSA_ENST00000478027.1_3'UTR	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN	ribosomal protein SA	222	Laminin-binding.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		AGAAGGCAGTGACCAAGGAGG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	62	60			NA	NA	3		NA											NA				39453425		2203	4299	6502	SO:0001819	synonymous_variant			S37431	CCDS2686.1	3p21.3	2014-09-17	2002-08-29	2005-02-11	ENSG00000168028	ENSG00000168028	3921	3921			6502	protein-coding gene	gene with protein product		150370	laminin receptor 1 (67kD, ribosomal protein SA)	LAMR1	NA	1534510, 8760291	Standard	NM_002295	NM_001012321	NA	Approved	LRP, 37LRP, p40, SA	uc003cjp.3	P08865	OTTHUMG00000131296	ENST00000301821.6:c.666G>A	3.37:g.39453425G>A		NA	P11085|P12030|Q16471|Q6IPD1|Q6IPD2|Q6NSD1|Q6NXQ8|Q86VC0	37	CCDS2686.1																																																																																			RPSA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254064.3		+	ENST00000301821.6	Silent	SNP	3 : 39453425 - 39453425 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	172	16
SAMD4A	23034	broad.mit.edu	37	14	55226887	55226887	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr14:55226887C>T	ENST00000555192.1	+	0	74				SAMD4A_ENST00000392067.3_Silent_p.I395I|SAMD4A_ENST00000251091.5_Silent_p.I307I|SAMD4A_ENST00000357634.3_Silent_p.I394I|SAMD4A_ENST00000554335.1_Silent_p.I395I	NM_001161577.1	NP_001155049.1	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	NA					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	p.I394I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						AGGACATCATCGAGGGGGGCA	0.632		NA											C	3	0.0014	NA	NA	2184	0.01	0.999	,	,	NA	3e-04	NA	NA	NA	0.0018	0.7834	EXOME	NA	NA	0.0012	SNP								NA				1	Substitution - coding silent(1)	large_intestine(1)											100	112	108			NA	NA	14		NA											NA				55226887		2187	4267	6454	SO:0001623	5_prime_UTR_variant			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577	23034	23034		Sterile alpha motif (SAM) domain containing	23023	protein-coding gene	gene with protein product	smaug homolog (Drosophila)	610747	sterile alpha motif domain containing 4	SAMD4	NA	16221671	Standard	NM_015589	NM_001161577	NA	Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000555192.1:c.-43C>T	14.37:g.55226887C>T		NA	A8MPZ5|Q0VA96|Q6PEW4	37	CCDS55918.1																																																																																			SAMD4A-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411193.1		+	ENST00000555192.1	5'UTR	SNP	14 : 55226887 - 55226887 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	803	7
SAMSN1	64092	broad.mit.edu	37	21	15889230	15889230	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr21:15889230delC	ENST00000285670.2	-	4	640	c.466delG	c.(466-468)gccfs	p.A156fs	SAMSN1_ENST00000400566.1_Frame_Shift_Del_p.A88fs|SAMSN1_ENST00000400564.1_Intron	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	88					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TCAGAAAGGGCTTTGATGTAC	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	99	103			NA	NA	21		NA											NA				15889230		1801	4065	5866	SO:0001589	frameshift_variant			AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307	64092	64092		SAM and SH3 domain containing, Sterile alpha motif (SAM) domain containing	10528	protein-coding gene	gene with protein product	nuclear localization signals, SAM and SH3 domain containing 1, SAM and SH3 domain containing 2, hematopoietic adapter-containing SH3 and sterile &				NA					NA									NA		NA																																																																																								NA									0	0
SATB2	23314	broad.mit.edu	37	2	200213649	200213649	+	Silent	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:200213649C>A	ENST00000443023.1	-	6	2236	c.771G>T	c.(769-771)ctG>ctT	p.L257L	SATB2_ENST00000260926.5_Silent_p.L316L|SATB2_ENST00000457245.1_Silent_p.L316L|SATB2_ENST00000417098.1_Silent_p.L316L|SATB2_ENST00000428695.1_Silent_p.L198L			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	316						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTGGTTTATCAGATGGGCCA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(30;262 767 11040 24421 36230)							NA				0													161	163	162			NA	NA	2		NA											NA				200213649		2203	4300	6503	SO:0001819	synonymous_variant			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042	23314	23314		Homeoboxes / CUT class	21637	protein-coding gene	gene with protein product		608148	SATB family member 2		NA		Standard	NM_015265	NM_015265	NA	Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000443023.1:c.771G>T	2.37:g.200213649C>A		NA	A8K5Z8|Q4V763	37																																																																																				SATB2-012	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000340208.1		-	ENST00000443023.1	Silent	SNP	2 : 200213649 - 200213649 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	379	14
SDK1	221935	broad.mit.edu	37	7	3991368	3991378	+	Frame_Shift_Del	DEL	GGAGGACCTGA	GGAGGACCTGA	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	GGAGGACCTGA	GGAGGACCTGA	-	-	GGAGGACCTGA	GGAGGACCTGA	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:3991368_3991378delGGAGGACCTGA	ENST00000389531.3	+	7	966_976	c.966_976delGGAGGACCTGA	c.(964-978)gtggaggacctgagtfs	p.EDLS323fs	SDK1_ENST00000404826.2_Frame_Shift_Del_p.EDLS323fs			Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	323	Ig-like C2-type 3.				cell adhesion	integral to membrane		p.V322V(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACAGGCCTGTGGAGGACCTGAGTGTGACCTG	0.583		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555	221935	221935		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	19307	protein-coding gene	gene with protein product		607216	sidekick homolog 1 (chicken), sidekick homolog 1, cell adhesion molecule (chicken)		NA	12230981, 17307840, 15213259	Standard	NM_152744	NM_001079653	NA	Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000389531.3:c.966_976delGGAGGACCTGA	7.37:g.3991368_3991378delGGAGGACCTGA	ENSP00000374182:p.Glu323fs	NA	Q8TEN9|Q8TEP5|Q96N44	37																																																																																				SDK1-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000323705.2		+	ENST00000389531.3	Frame_Shift_Del	DEL	7 : 3991368 - 3991378 - PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	214	50
SEC31A	22872	broad.mit.edu	37	4	83742207	83742207	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:83742207T>C	ENST00000395310.2	-	26	3648	c.3466A>G	c.(3466-3468)Aaa>Gaa	p.K1156E	SEC31A_ENST00000505984.1_Missense_Mutation_p.K1102E|SEC31A_ENST00000508502.1_Missense_Mutation_p.K1141E|SEC31A_ENST00000355196.2_Missense_Mutation_p.K1156E|SEC31A_ENST00000311785.7_Missense_Mutation_p.K1042E|SEC31A_ENST00000505472.1_Missense_Mutation_p.K1187E|SEC31A_ENST00000443462.2_Missense_Mutation_p.K1136E|SEC31A_ENST00000448323.1_Missense_Mutation_p.K1156E|SEC31A_ENST00000348405.4_Missense_Mutation_p.K1117E|SEC31A_ENST00000500777.2_Missense_Mutation_p.K1003E|SEC31A_ENST00000509142.1_Missense_Mutation_p.K1042E|SEC31A_ENST00000513858.1_Missense_Mutation_p.K1003E|SEC31A_ENST00000264405.5_Missense_Mutation_p.K905E|SEC31A_ENST00000432794.1_Missense_Mutation_p.K1169E|SEC31A_ENST00000326950.5_Missense_Mutation_p.K1117E	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1156					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCCCTAAGTTTATCATACAGA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	210	207			NA	NA	4		NA											NA				83742207		2203	4300	6503	SO:0001583	missense			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674	22872	22872		WD repeat domain containing	17052	protein-coding gene	gene with protein product		610257	SEC31-like 1 (S. cerevisiae), Sec31 homolog A (S. cerevisiae)	SEC31L1	NA	10048485, 10788476	Standard	NM_016211	NM_001077206	NA	Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3466A>G	4.37:g.83742207T>C	ENSP00000378721:p.Lys1156Glu	NA	B7ZKZ7|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	37	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.5|27.5	4.839843|4.839843	0.91117|0.91117	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000503937|ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.40756	.|1.17;1.02;2.26;2.22;1.07;2.15;2.26;1.17;1.07;1.02;1.02;2.22;2.26;3.05;2.14	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68403|0.68403	0.2997|0.2997	M|M	0.85462|0.85462	2.755|2.755	0.36891|0.36891	D|D	0.889912|0.889912	.|D;D;D;D;D;D;D;D;D	.|0.76494	.|0.998;0.997;0.998;0.999;0.998;0.999;0.998;0.984;0.998	.|D;D;D;D;D;D;D;P;D	.|0.85130	.|0.993;0.98;0.994;0.997;0.994;0.996;0.993;0.839;0.997	T|T	0.76567|0.76567	-0.2912|-0.2912	5|10	.|0.48119	.|T	.|0.1	-14.366|-14.366	15.8221|15.8221	0.78662|0.78662	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1136;1102;1003;1117;1042;1141;1156;905;1169	.|B4DIW6;B7ZL00;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7;O94979-8	.|.;.;.;.;.;.;SC31A_HUMAN;.;.	M|E	318|1117;1003;1156;1136;1042;1169;1156;1117;1042;1187;1003;1141;1156;905;1102	.|ENSP00000337602:K1117E;ENSP00000426886:K1003E;ENSP00000378721:K1156E;ENSP00000408027:K1136E;ENSP00000426569:K1042E;ENSP00000407944:K1169E;ENSP00000400926:K1156E;ENSP00000325087:K1117E;ENSP00000309070:K1042E;ENSP00000421633:K1187E;ENSP00000421464:K1003E;ENSP00000424635:K1141E;ENSP00000347329:K1156E;ENSP00000264405:K905E;ENSP00000424451:K1102E	.|ENSP00000264405:K905E	I|K	-|-	3|1	3|0	SEC31A|SEC31A	83961231|83961231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.698000|7.698000	0.84413|0.84413	2.139000|2.139000	0.66308|0.66308	0.533000|0.533000	0.62120|0.62120	ATA|AAA	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252640.1		-	ENST00000395310.2	Missense_Mutation	SNP	4 : 83742207 - 83742207 C PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	709	19
SLC10A6	345274	broad.mit.edu	37	4	87744851	87744851	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:87744851G>A	ENST00000273905.6	-	6	1271	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L		NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	375						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CTATTCACATGAAGTGATGTG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	75	79			NA	NA	4		NA											NA				87744851		2203	4300	6503	SO:0001583	missense			AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283	345274	345274		Solute carriers	30603	protein-coding gene	gene with protein product		613366			NA	15020217, 17491011	Standard	NM_197965	NM_197965	NA	Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.1124C>T	4.37:g.87744851G>A	ENSP00000273905:p.Ser375Leu	NA	Q70EX7	37	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256182	0.39896	.	.	ENSG00000145283	ENST00000273905	T	0.09445	2.98	4.83	3.99	0.46301	.	.	.	.	.	T	0.10766	0.0263	L	0.44542	1.39	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.16988	-1.0384	9	0.49607	T	0.09	6.3961	8.9158	0.35581	0.0998:0.0:0.9002:0.0	.	375	Q3KNW5	SOAT_HUMAN	L	375	ENSP00000273905:S375L	ENSP00000273905:S375L	S	-	2	0	SLC10A6	87963875	0.814000	0.29104	0.014000	0.15608	0.095000	0.18619	2.377000	0.44300	1.278000	0.44430	-0.236000	0.12185	TCA	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253043.2		-	ENST00000273905.6	Missense_Mutation	SNP	4 : 87744851 - 87744851 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	198	47
SLC24A2	25769	broad.mit.edu	37	9	19786147	19786147	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:19786147G>A	ENST00000341998.2	-	1	779	c.718C>T	c.(718-720)Cga>Tga	p.R240*	SLC24A2_ENST00000286344.3_Nonsense_Mutation_p.R240*	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	240					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GACACATCTCGAAAGAGCGGC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	87	89			NA	NA	9		NA											NA				19786147		2203	4300	6503	SO:0001587	stop_gained			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886	25769	25769		Solute carriers	10976	protein-coding gene	gene with protein product		609838			NA	10662833	Standard	NM_020344	NM_020344	NA	Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.718C>T	9.37:g.19786147G>A	ENSP00000344801:p.Arg240*	NA	B7ZLL8|Q9NTN5|Q9NZQ4	37	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	G	37	6.631099	0.97718	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	.	.	.	5.91	2.77	0.32553	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9975	0.47585	0.0676:0.0:0.6657:0.2667	.	.	.	.	X	240	.	.	R	-	1	2	SLC24A2	19776147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.261000	0.43276	0.806000	0.34183	0.655000	0.94253	CGA	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051866.2		-	ENST00000341998.2	Nonsense_Mutation	SNP	9 : 19786147 - 19786147 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	227	49
SLC36A2	153201	broad.mit.edu	37	5	150715058	150715058	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr5:150715058C>T	ENST00000335244.4	-	6	705	c.576G>A	c.(574-576)acG>acA	p.T192T	SLC36A2_ENST00000521967.1_Silent_p.T192T	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	192					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGAATCACCGTCTCATTGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													255	236	243			NA	NA	5		NA											NA				150715058		2203	4300	6503	SO:0001819	synonymous_variant			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335	153201	153201		Solute carriers	18762	protein-coding gene	gene with protein product		608331			NA	11959859	Standard		NM_181776	NA	Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.576G>A	5.37:g.150715058C>T		NA	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	37	CCDS4315.1																																																																																			SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252437.1		-	ENST00000335244.4	Silent	SNP	5 : 150715058 - 150715058 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	232	90
SMAD4	4089	broad.mit.edu	37	18	48575215	48575216	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr18:48575215_48575216insT	ENST00000588745.1	+	2	409_410	c.409_410insT	c.(409-411)gtafs	p.V137fs	SMAD4_ENST00000452201.2_Frame_Shift_Ins_p.V137fs|SMAD4_ENST00000342988.3_Frame_Shift_Ins_p.V137fs|SMAD4_ENST00000398417.2_Frame_Shift_Ins_p.V137fs|RP11-729L2.2_ENST00000590722.2_3'UTR			Q13485	SMAD4_HUMAN	SMAD family member 4	137	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CGAACGAGTTGTATCACCTGGA	0.307		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				40	Whole gene deletion(36)|Unknown(4)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646	4089	4089		SMADs	6770	protein-coding gene	gene with protein product		600993	MAD, mothers against decapentaplegic homolog 4 (Drosophila), SMAD, mothers against DPP homolog 4 (Drosophila)	MADH4	NA	8553070, 8774881	Standard	NM_005359	NM_005359	NA	Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000588745.1:c.410dupT	18.37:g.48575216_48575216dupT	ENSP00000464901:p.Val137fs	NA	A8K405	37	CCDS11950.1																																																																																			SMAD4-004	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449729.1		+	ENST00000588745.1	Frame_Shift_Ins	INS	18 : 48575215 - 48575216 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	185	100
SMC2	10592	broad.mit.edu	37	9	106889705	106889705	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:106889705G>A	ENST00000286398.7	+	20	3022	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	SMC2_ENST00000374787.3_Missense_Mutation_p.E912K|SMC2_ENST00000303219.8_Missense_Mutation_p.E912K|SMC2_ENST00000374793.3_Missense_Mutation_p.E912K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	912					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TAAAATTAAGGAATTAGACCA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	139	141			NA	NA	9		NA											NA				106889705		2203	4300	6503	SO:0001583	missense			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824	10592	10592		Structural maintenance of chromosomes proteins	14011	protein-coding gene	gene with protein product		605576	SMC2 (structural maintenance of chromosomes 2, yeast)-like 1, SMC2 structural maintenance of chromosomes 2-like 1 (yeast)	SMC2L1	NA	9789013	Standard		NM_006444	NA	Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2734G>A	9.37:g.106889705G>A	ENSP00000286398:p.Glu912Lys	NA	Q6IEE0|Q9P1P2	37	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350640	0.41599	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.78003	-0.49;-0.49;-1.14;-0.49	5.84	5.84	0.93424	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	N	0.02286	-0.61	0.58432	D	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.57676	-0.7770	10	0.02654	T	1	-15.7009	18.7141	0.91668	0.0:0.0:1.0:0.0	.	912	O95347	SMC2_HUMAN	K	912	ENSP00000286398:E912K;ENSP00000363925:E912K;ENSP00000306152:E912K;ENSP00000363919:E912K	ENSP00000286398:E912K	E	+	1	0	SMC2	105929526	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.084000	0.71335	2.763000	0.94921	0.650000	0.86243	GAA	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053470.1		+	ENST00000286398.7	Missense_Mutation	SNP	9 : 106889705 - 106889705 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	271	9
SORCS2	57537	broad.mit.edu	37	4	7666085	7666085	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:7666085C>T	ENST00000507866.2	+	7	1067	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	SORCS2_ENST00000329016.9_Missense_Mutation_p.R148W	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	320						integral to membrane	neuropeptide receptor activity	p.R170W(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTAGATTTTCGGTACGTCAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)											43	44	44			NA	NA	4		NA											NA				7666085		2075	4192	6267	SO:0001583	missense			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985	57537	57537			16698	protein-coding gene	gene with protein product		606284			NA	11499680	Standard	NM_020777	NM_020777	NA	Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.958C>T	4.37:g.7666085C>T	ENSP00000422185:p.Arg320Trp	NA	Q9P2L7	37	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179406	0.38511	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.31247	1.5;1.5	4.79	2.02	0.26589	VPS10 (1);	0.414901	0.22480	N	0.059519	T	0.39200	0.1069	L	0.57536	1.79	0.35199	D	0.774082	D;D	0.76494	0.998;0.999	P;P	0.57152	0.714;0.814	T	0.48031	-0.9070	10	0.59425	D	0.04	.	5.9996	0.19513	0.1529:0.6789:0.0:0.1682	.	148;320	B5MED8;Q96PQ0	.;SORC2_HUMAN	W	320;148	ENSP00000422185:R320W;ENSP00000329124:R148W	ENSP00000329124:R148W	R	+	1	2	SORCS2	7716985	0.998000	0.40836	0.001000	0.08648	0.008000	0.06430	2.969000	0.49232	0.094000	0.17404	-0.142000	0.14014	CGG	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358685.4		+	ENST00000507866.2	Missense_Mutation	SNP	4 : 7666085 - 7666085 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	123	33
SPAG16	79582	broad.mit.edu	37	2	214182035	214182035	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:214182035A>C	ENST00000413312.1	+	4	644	c.398A>C	c.(397-399)aAc>aCc	p.N133T	SPAG16_ENST00000272898.7_Missense_Mutation_p.N164T|SPAG16_ENST00000432529.2_Missense_Mutation_p.N164T|SPAG16_ENST00000374309.3_Missense_Mutation_p.N70T|SPAG16_ENST00000331683.5_Missense_Mutation_p.N164T|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000447990.1_Missense_Mutation_p.N164T			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	164					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GAAAATGAGAACAAAAATTTA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	78	77			NA	NA	2		NA											NA				214182035		2202	4297	6499	SO:0001583	missense			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451	79582	79582		WD repeat domain containing	23225	protein-coding gene	gene with protein product		612173			NA	12391165, 11867345	Standard	NM_024532	NM_024532	NA	Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000413312.1:c.398A>C	2.37:g.214182035A>C	ENSP00000390494:p.Asn133Thr	NA	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	37		.	.	.	.	.	.	.	.	.	.	A	17.68	3.448286	0.63178	.	.	ENSG00000144451	ENST00000331683;ENST00000432529;ENST00000413312;ENST00000272898;ENST00000447990;ENST00000374309	T;T	0.56275	0.53;0.47	5.65	4.48	0.54585	.	0.190601	0.48767	D	0.000179	T	0.64338	0.2589	M	0.62723	1.935	0.33798	D	0.626297	B;D;P;D;D	0.71674	0.421;0.989;0.668;0.993;0.998	B;P;B;P;D	0.65684	0.202;0.883;0.306;0.823;0.937	T	0.72491	-0.4277	10	0.42905	T	0.14	.	9.0056	0.36109	0.8356:0.0:0.0:0.1644	.	70;133;104;164;164	B4DYB5;Q8N0X2-3;Q4G1A2;Q8N0X2;Q8N0X2-4	.;.;.;SPG16_HUMAN;.	T	164;164;133;164;164;70	ENSP00000332592:N164T;ENSP00000363428:N70T	ENSP00000272898:N164T	N	+	2	0	SPAG16	213890280	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.685000	0.54678	0.941000	0.37499	0.528000	0.53228	AAC	SPAG16-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000337123.2		+	ENST00000413312.1	Missense_Mutation	SNP	2 : 214182035 - 214182035 C PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	265	93
TLR3	7098	broad.mit.edu	37	4	187005297	187005297	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:187005297C>T	ENST00000504367.1	+	2	2036	c.1626C>T	c.(1624-1626)caC>caT	p.H542H	TLR3_ENST00000296795.3_Silent_p.H819H			O15455	TLR3_HUMAN	toll-like receptor 3	819					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTATAACACACCATCTATTAA	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	46	44			NA	NA	4		NA											NA				187005297		2193	4295	6488	SO:0001819	synonymous_variant			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342	7098	7098		CD molecules	11849	protein-coding gene	gene with protein product		603029			NA	9435236	Standard		NM_003265	NA	Approved	CD283	uc003iyq.3	O15455		ENST00000504367.1:c.1626C>T	4.37:g.187005297C>T		NA	Q4VAL2	37																																																																																				TLR3-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000360345.2		+	ENST00000504367.1	Silent	SNP	4 : 187005297 - 187005297 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	256	85
TLR5	7100	broad.mit.edu	37	1	223285330	223285330	+	Silent	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:223285330C>G	ENST00000540964.1	-	4	1505	c.1044G>C	c.(1042-1044)ctG>ctC	p.L348L	TLR5_ENST00000342210.6_Silent_p.L348L			O60602	TLR5_HUMAN	toll-like receptor 5	348					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AAAGTTCCCCCAGAAGGTTAT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	93	93			NA	NA	1		NA											NA				223285330		2203	4300	6503	SO:0001819	synonymous_variant				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554	7100	7100			11851	protein-coding gene	gene with protein product	Toll/interleukin-1 receptor-like protein 3	603031	systemic lupus erythematosus susceptibility 1	SLEB1	NA	9435236, 16027372	Standard	NM_003268	NM_003268	NA	Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1044G>C	1.37:g.223285330C>G		NA	B1AZ05|B3Y633|D3DTB8|O15456|Q32MI3	37	CCDS31033.1																																																																																			TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			-	ENST00000540964.1	Silent	SNP	1 : 223285330 - 223285330 G PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	678	158
TRPM8	79054	broad.mit.edu	37	2	234875381	234875381	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:234875381C>T	ENST00000324695.4	+	15	2047	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	TRPM8_ENST00000433712.2_Silent_p.I357I	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	669						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGCATTTCATCGCCCAGCCTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	66	69			NA	NA	2		NA											NA				234875381		2203	4300	6503	SO:0001819	synonymous_variant			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481	79054	79054		Voltage-gated ion channels / Transient receptor potential cation channels	17961	protein-coding gene	gene with protein product		606678			NA	16382100	Standard	NM_024080	NM_024080	NA	Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2007C>T	2.37:g.234875381C>T		NA	Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	37	CCDS33407.1																																																																																			TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131005.4		+	ENST00000324695.4	Silent	SNP	2 : 234875381 - 234875381 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	110	40
TXK	7294	broad.mit.edu	37	4	48069714	48069714	+	Silent	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:48069714T>C	ENST00000264316.4	-	15	1609	c.1524A>G	c.(1522-1524)gaA>gaG	p.E508E	TXK_ENST00000507351.1_Silent_p.E163E	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	508	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TAGGGCGGCCTTCAGGTTTCT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	91	90			NA	NA	4		NA											NA				48069714		2203	4300	6503	SO:0001819	synonymous_variant			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	7294	7294	2.7.10.1	SH2 domain containing	12434	protein-coding gene	gene with protein product		600058	PTK4 protein tyrosine kinase 4	PTK4	NA	7951233, 7528718	Standard	NM_003328	NM_003328	NA	Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.1524A>G	4.37:g.48069714T>C		NA	Q14220	37	CCDS3480.1																																																																																			TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219869.7		-	ENST00000264316.4	Silent	SNP	4 : 48069714 - 48069714 C PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	313	113
TYRP1	7306	broad.mit.edu	37	9	12698537	12698537	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:12698537G>C	ENST00000388918.5	+	4	924	c.795G>C	c.(793-795)ttG>ttC	p.L265F	TYRP1_ENST00000381136.2_Intron|TYRP1_ENST00000381137.2_Intron	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	265					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CGGATGACTTGATGGGATCCA	0.433		NA							Oculocutaneous Albinism					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	116	118			NA	NA	9		NA											NA				12698537		2203	4300	6503	SO:0001583	missense	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165	7306	7306			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2	NA	9434945	Standard	NM_000550	NM_000550	NA	Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.795G>C	9.37:g.12698537G>C	ENSP00000373570:p.Leu265Phe	NA	P78468|P78469|Q13721|Q15679	37	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266534	0.40095	.	.	ENSG00000107165	ENST00000388918	D	0.98633	-5.04	6.07	4.23	0.50019	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.121883	0.56097	D	0.000034	D	0.95771	0.8624	L	0.28608	0.87	0.80722	D	1	B	0.25007	0.116	B	0.35278	0.199	D	0.91030	0.4863	10	0.30854	T	0.27	-6.3417	4.1206	0.10104	0.1303:0.2338:0.5154:0.1205	.	265	P17643	TYRP1_HUMAN	F	265	ENSP00000373570:L265F	ENSP00000373570:L265F	L	+	3	2	TYRP1	12688537	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.652000	0.37313	0.889000	0.36185	0.655000	0.94253	TTG	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055502.3		+	ENST00000388918.5	Missense_Mutation	SNP	9 : 12698537 - 12698537 C PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	309	139
UGGT2	55757	broad.mit.edu	37	13	96675949	96675949	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:96675949G>A	ENST00000376747.3	-	3	376	c.306C>T	c.(304-306)caC>caT	p.H102H	UGGT2_ENST00000376714.3_Silent_p.H102H|UGGT2_ENST00000397618.3_Silent_p.H102H|UGGT2_ENST00000376712.4_Silent_p.H102H	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	102					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AAAGGTTGATGTGTAAATTGT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	101	101			NA	NA	13		NA											NA				96675949		2203	4300	6503	SO:0001819	synonymous_variant			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595	55757	55757			15664	protein-coding gene	gene with protein product	UDP-glucose:glycoprotein glucosyltransferase 2	605898	UDP-glucose ceramide glucosyltransferase-like 2	UGCGL2	NA	10694380	Standard	NM_020121	NM_020121	NA	Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.306C>T	13.37:g.96675949G>A		NA	Q08AD0|Q5JQR8|Q9UFC4	37	CCDS9480.1																																																																																			UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045507.1		-	ENST00000376747.3	Silent	SNP	13 : 96675949 - 96675949 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	470	149
USH2A	7399	broad.mit.edu	37	1	216061988	216061988	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:216061988T>C	ENST00000307340.3	-	41	8389	c.8003A>G	c.(8002-8004)gAa>gGa	p.E2668G	USH2A_ENST00000366943.2_Missense_Mutation_p.E2668G|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2668	Fibronectin type-III 13.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTAGTAACTTCTTCCTTTCC	0.448		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	89	87			NA	NA	1		NA											NA				216061988		2203	4300	6503	SO:0001583	missense			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8003A>G	1.37:g.216061988T>C	ENSP00000305941:p.Glu2668Gly	NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.823185	0.32237	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57752	0.38;0.38	5.84	3.43	0.39272	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.755657	0.11112	N	0.598495	T	0.53642	0.1809	L	0.56396	1.775	0.33957	D	0.645209	B	0.32653	0.379	B	0.38378	0.272	T	0.56553	-0.7960	10	0.31617	T	0.26	.	12.7182	0.57127	0.0:0.0:0.2598:0.7402	.	2668	O75445	USH2A_HUMAN	G	2668	ENSP00000305941:E2668G;ENSP00000355910:E2668G	ENSP00000305941:E2668G	E	-	2	0	USH2A	214128611	1.000000	0.71417	0.178000	0.23040	0.663000	0.39108	3.614000	0.54160	0.422000	0.26005	0.533000	0.62120	GAA	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Missense_Mutation	SNP	1 : 216061988 - 216061988 C PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	423	17
VWA9	81556	broad.mit.edu	37	15	65890685	65890685	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:65890685T>C	ENST00000569491.1	-	6	653	c.575A>G	c.(574-576)gAt>gGt	p.D192G	VWA9_ENST00000442903.3_Missense_Mutation_p.D205G|VWA9_ENST00000395644.4_Missense_Mutation_p.D241G|VWA9_ENST00000431261.2_Missense_Mutation_p.D162G|VWA9_ENST00000420799.2_Missense_Mutation_p.D184G|VWA9_ENST00000313182.2_Missense_Mutation_p.D241G|VWA9_ENST00000567744.1_Missense_Mutation_p.D277G					von Willebrand factor A domain containing 9	NA											NA						AGGGATAGGATCAATTTCTTC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	95	95			NA	NA	15		NA											NA				65890685		2201	4299	6500	SO:0001583	missense			AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614	81556	81556			25372	protein-coding gene	gene with protein product			chromosome 15 open reading frame 44	C15orf44	NA	11230166	Standard	NM_030800	NM_001136043	NA	Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000569491.1:c.575A>G	15.37:g.65890685T>C	ENSP00000456460:p.Asp192Gly	NA		37		.	.	.	.	.	.	.	.	.	.	T	14.76	2.630436	0.46944	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.86	5.86	0.93980	.	0.092655	0.64402	D	0.000001	T	0.53433	0.1796	L	0.38175	1.15	0.80722	D	1	B;B;B;B	0.11235	0.004;0.004;0.0;0.001	B;B;B;B	0.11329	0.006;0.004;0.001;0.003	T	0.47249	-0.9132	9	0.23302	T	0.38	-28.6845	16.2605	0.82541	0.0:0.0:0.0:1.0	.	192;205;277;241	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	G	241;241;162;184;205	.	ENSP00000326379:D241G	D	-	2	0	C15orf44	63677738	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.831000	0.86748	2.237000	0.73441	0.460000	0.39030	GAT	VWA9-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420607.2		-	ENST00000569491.1	Missense_Mutation	SNP	15 : 65890685 - 65890685 C PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	314	94
WDR17	116966	broad.mit.edu	37	4	177069371	177069371	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:177069371T>A	ENST00000508596.1	+	13	2034	c.1782T>A	c.(1780-1782)aaT>aaA	p.N594K	WDR17_ENST00000280190.4_Missense_Mutation_p.N618K|WDR17_ENST00000507824.2_Missense_Mutation_p.N601K|WDR17_ENST00000393643.2_Missense_Mutation_p.N594K	NM_181265.3	NP_851782.3	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	618										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TAATGTGGAATACTGAGATTC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	161	163			NA	NA	4		NA											NA				177069371		2203	4300	6503	SO:0001583	missense			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627	116966	116966		WD repeat domain containing	16661	protein-coding gene	gene with protein product		609005			NA	12401215	Standard		NM_170710	NA	Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000508596.1:c.1782T>A	4.37:g.177069371T>A	ENSP00000422763:p.Asn594Lys	NA		37	CCDS43284.2	.	.	.	.	.	.	.	.	.	.	T	20.1	3.936431	0.73442	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.61040	0.14;3.49;0.14	5.77	-5.17	0.02849	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71426	0.3338	M	0.81682	2.555	0.49299	D	0.999775	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.75926	-0.3145	10	0.72032	D	0.01	-32.5565	14.3103	0.66413	0.0:0.474:0.0:0.526	.	594;618	E7EQX0;Q8IZU2	.;WDR17_HUMAN	K	594;594;618;601	ENSP00000422763:N594K;ENSP00000377258:N594K;ENSP00000280190:N618K	ENSP00000280190:N618K	N	+	3	2	WDR17	177306365	0.783000	0.28701	0.914000	0.36105	0.839000	0.47603	-0.154000	0.10130	-0.688000	0.05155	-0.264000	0.10439	AAT	WDR17-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362335.1		+	ENST00000508596.1	Missense_Mutation	SNP	4 : 177069371 - 177069371 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	588	207
ZMAT4	79698	broad.mit.edu	37	8	40532397	40532397	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:40532397C>T	ENST00000297737.6	-	5	549	c.403G>A	c.(403-405)Gca>Aca	p.A135T	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	135						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TAGGGAGATGCGACCACCGGA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	159	158			NA	NA	8		NA											NA				40532397		2203	4300	6503	SO:0001583	missense			AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061	79698	79698		Zinc fingers, matrin-type	25844	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024645	NM_024645	NA	Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.403G>A	8.37:g.40532397C>T	ENSP00000297737:p.Ala135Thr	NA	Q8WUT8	37	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	C	8.698	0.909157	0.17833	.	.	ENSG00000165061	ENST00000297737;ENST00000519406	T;T	0.41758	0.99;0.99	5.15	-4.1	0.03940	.	0.842881	0.10911	N	0.620537	T	0.15003	0.0362	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.21759	-1.0236	10	0.15952	T	0.53	-0.6256	2.6729	0.05073	0.1913:0.4688:0.0947:0.2452	.	135	Q9H898	ZMAT4_HUMAN	T	135	ENSP00000297737:A135T;ENSP00000428423:A135T	ENSP00000297737:A135T	A	-	1	0	ZMAT4	40651554	0.000000	0.05858	0.130000	0.21974	0.692000	0.40212	-2.263000	0.01174	-0.981000	0.03520	0.557000	0.71058	GCA	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376950.1		-	ENST00000297737.6	Missense_Mutation	SNP	8 : 40532397 - 40532397 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	467	7
ZNF816	125893	broad.mit.edu	37	19	53454217	53454217	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:53454217A>C	ENST00000357666.4	-	5	1111	c.811T>G	c.(811-813)Tac>Gac	p.Y271D	ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.Y271D	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TATACAATGTATTGCTTCTGA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	125	127			NA	NA	19		NA											NA				53454217		2203	4300	6503	SO:0001583	missense			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257	125893	125893		Zinc fingers, C2H2-type, -	26995	protein-coding gene	gene with protein product			zinc finger protein 816A	ZNF816A	NA		Standard	NM_001031665	NM_001031665	NA	Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.811T>G	19.37:g.53454217A>C	ENSP00000350295:p.Tyr271Asp	NA	A8K7H5|Q3KR39|Q659B3	37	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	2.570	-0.299834	0.05532	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.14516	2.5;2.5	1.75	0.592	0.17471	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13500	0.0327	N	0.13098	0.295	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.20472	-1.0274	9	0.11794	T	0.64	.	3.0944	0.06304	0.2436:0.0:0.2351:0.5213	.	271	Q0VGE8	ZN816_HUMAN	D	271	ENSP00000350295:Y271D;ENSP00000403266:Y271D	ENSP00000350295:Y271D	Y	-	1	0	ZNF816	58146029	0.000000	0.05858	0.001000	0.08648	0.112000	0.19704	-6.414000	0.00067	-0.056000	0.13221	0.163000	0.16589	TAC	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396132.1		-	ENST00000357666.4	Missense_Mutation	SNP	19 : 53454217 - 53454217 C PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	483	7
ZSCAN1	284312	broad.mit.edu	37	19	58549369	58549369	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:58549369G>A	ENST00000282326.1	+	3	412	c.165G>A	c.(163-165)gcG>gcA	p.A55A	ZSCAN1_ENST00000601162.1_Silent_p.A55A|ZSCAN1_ENST00000391700.1_Silent_p.A55A	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	55	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGCACCTCGCGCTGGGCCAGC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	15	15			NA	NA	19		NA											NA				58549369		2184	4280	6464	SO:0001819	synonymous_variant			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467	284312	284312		-, Zinc fingers, C2H2-type	23712	protein-coding gene	gene with protein product			zinc finger with SCAN domain 1		NA	12477932	Standard	NM_182572	NM_182572	NA	Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.165G>A	19.37:g.58549369G>A		NA	Q3B798|Q6WLH8|Q86WS8	37	CCDS12969.1																																																																																			ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466427.1		+	ENST00000282326.1	Silent	SNP	19 : 58549369 - 58549369 A PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	136	30
ZSCAN2	54993	broad.mit.edu	37	15	85147523	85147523	+	Missense_Mutation	SNP	C	C	T	rs142869560		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:85147523C>T	ENST00000538076.1	+	1	392	c.365C>T	c.(364-366)gCg>gTg	p.A122V	ZSCAN2_ENST00000327179.6_Missense_Mutation_p.A122V|ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000541040.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000334141.3_Missense_Mutation_p.A122V|ZSCAN2_ENST00000379358.3_Missense_Mutation_p.A122V|ZSCAN2_ENST00000448803.2_Missense_Mutation_p.A122V|ZSCAN2_ENST00000485222.2_Missense_Mutation_p.A122V			Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	122	SCAN box.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GAGGAGGCAGCGGCCCTGGTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	63	56	58		365,365,365	-1.3	0.1	15	dbSNP_134	58	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	ZSCAN2	NM_001007072.1,NM_017894.5,NM_181877.3	64,64,64	0,1,6501	TT,TC,CC	NA	0.0116,0.0,0.0077	benign,benign,benign	122/147,122/151,122/615	85147523	1,13003	2203	4299	6502	SO:0001583	missense			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371	54993	54993		-, Zinc fingers, C2H2-type	20994	protein-coding gene	gene with protein product			zinc finger protein 29	ZFP29	NA	1937051	Standard	NM_017894	NM_017894	NA	Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000538076.1:c.365C>T	15.37:g.85147523C>T	ENSP00000439132:p.Ala122Val	NA	A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	37		.	.	.	.	.	.	.	.	.	.	C	2.640	-0.284280	0.05605	0.0	1.16E-4	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000334141;ENST00000379358;ENST00000327179;ENST00000541040;ENST00000538076;ENST00000485222;ENST00000379353	T;T;T;T;T;T;T;T	0.03386	3.95;3.95;3.95;3.95;3.95;3.95;3.95;3.95	5.63	-1.28	0.09318	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.282320	0.24927	N	0.034484	T	0.00784	0.0026	N	0.00301	-1.68	0.09310	N	1	B;B;B;B;B;B;B	0.11235	0.004;0.0;0.002;0.0;0.0;0.001;0.003	B;B;B;B;B;B;B	0.06405	0.001;0.001;0.001;0.001;0.001;0.002;0.001	T	0.44019	-0.9355	10	0.13853	T	0.58	-9.9035	3.0178	0.06065	0.2893:0.2494:0.0:0.4613	.	122;122;122;122;122;122;122	F5H3F3;F5GY18;F5GZ04;A8K5A9;Q7Z7L9;Q7Z7L9-4;Q7Z7L9-3	.;.;.;.;ZSCA2_HUMAN;.;.	V	122;122;122;122;122;122;122;122;103	ENSP00000410198:A122V;ENSP00000445451:A122V;ENSP00000333895:A122V;ENSP00000368663:A122V;ENSP00000325123:A122V;ENSP00000441342:A122V;ENSP00000439132:A122V;ENSP00000440004:A122V	ENSP00000325123:A122V	A	+	2	0	ZSCAN2	82948527	0.992000	0.36948	0.081000	0.20488	0.858000	0.48976	0.340000	0.19892	-0.444000	0.07170	-0.290000	0.09829	GCG	ZSCAN2-009	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000396962.1		+	ENST00000538076.1	Missense_Mutation	SNP	15 : 85147523 - 85147523 T PAAD-TCGA-HZ-A8P1-Tumor-SM-5PNP4	213	64
