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
ABCA4	24	broad.mit.edu	37	1	94466426	94466426	+	Nonsense_Mutation	SNP	G	G	A	rs140142529		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:94466426G>A	ENST00000370225.3	-	47	6531	c.6445C>T	c.(6445-6447)Cga>Tga	p.R2149*	ABCA4_ENST00000535881.1_Nonsense_Mutation_p.R268*|ABCA4_ENST00000536513.1_Nonsense_Mutation_p.R419*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2149	ABC transporter 2.		R -> L (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCCATACATCGAAAGGCGCCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM990078	ABCA4	M	rs140142529	G	stop/ARG	0,4406		0,0,2203	159	124	136		6445	5.8	1	1	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ABCA4	NM_000350.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		2149/2274	94466426	1,13005	2203	4300	6503	SO:0001587	stop_gained			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691	24	24		ATP binding cassette transporters / subfamily A	34	protein-coding gene	gene with protein product	Stargardt disease	601691	ATP-binding cassette transporter, retinal-specific	STGD1, ABCR, RP19, STGD	NA	9490294	Standard	NM_000350	NM_000350	NA	Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6445C>T	1.37:g.94466426G>A	ENSP00000359245:p.Arg2149*	NA	O15112|O60438|O60915|Q4LE31	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	38	6.739809	0.97801	0.0	1.16E-4	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	.	.	.	5.84	5.84	0.93424	.	0.166997	0.50627	D	0.000112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0922	0.59172	0.0:0.0:0.7351:0.2649	rs61750654	.	.	.	X	941;2149;419;268	.	ENSP00000359245:R2149X	R	-	1	2	ABCA4	94239014	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.696000	0.68287	2.779000	0.95612	0.655000	0.94253	CGA	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029320.1		-	ENST00000370225.3	Nonsense_Mutation	SNP	1 : 94466426 - 94466426 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	442	55
AHRR	57491	broad.mit.edu	37	5	422893	422893	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:422893G>A	ENST00000316418.5	+	6	547	c.503G>A	c.(502-504)cGc>cAc	p.R168H	AHRR_ENST00000506456.1_Missense_Mutation_p.R24H|AHRR_ENST00000512529.1_Missense_Mutation_p.R14H|AHRR_ENST00000505113.1_Missense_Mutation_p.R168H	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	168	PAS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GTGGACGACCGCCAGGACTTC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	74	71			NA	NA	5		NA											NA				422893		1983	4150	6133	SO:0001583	missense			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438	57491	57491		Basic helix-loop-helix proteins	346	protein-coding gene	gene with protein product		606517	aryl hydrocarbon receptor regulator	AHH, AHHR	NA	1070014, 11423533	Standard	NM_020731	NM_020731	NA	Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000316418.5:c.503G>A	5.37:g.422893G>A	ENSP00000323816:p.Arg168His	NA	A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	37	CCDS43297.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045895	0.93685	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.48201	2.17;2.17;0.9;0.82	4.76	4.76	0.60689	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.57446	0.2054	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.988	D;D;D	0.91635	0.999;0.964;0.911	T	0.62520	-0.6837	10	0.87932	D	0	.	15.254	0.73571	0.0:0.0:1.0:0.0	.	24;168;168	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	H	168;168;14;24	ENSP00000424601:R168H;ENSP00000323816:R168H;ENSP00000424880:R14H;ENSP00000426932:R24H	ENSP00000323816:R168H	R	+	2	0	AHRR	475893	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.077000	0.76814	2.164000	0.68074	0.655000	0.94253	CGC	AHRR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367719.2		+	ENST00000316418.5	Missense_Mutation	SNP	5 : 422893 - 422893 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	345	60
ANAPC5	51433	broad.mit.edu	37	12	121773451	121773451	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:121773451C>A	ENST00000261819.3	-	7	956	c.835G>T	c.(835-837)Gat>Tat	p.D279Y	ANAPC5_ENST00000344395.4_Missense_Mutation_p.D180Y|ANAPC5_ENST00000441917.2_Missense_Mutation_p.D180Y|ANAPC5_ENST00000536366.1_Missense_Mutation_p.D158Y|ANAPC5_ENST00000541887.1_Missense_Mutation_p.D279Y|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	279					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATCAGACGATCAAAATAATGG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	113	113			NA	NA	12		NA											NA				121773451		2203	4300	6503	SO:0001583	missense			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053	51433	51433		Anaphase promoting complex subunits	15713	protein-coding gene	gene with protein product		606948			NA	9469815	Standard		NM_016237	NA	Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.835G>T	12.37:g.121773451C>A	ENSP00000261819:p.Asp279Tyr	NA	Q8N4H7|Q9BQD4	37	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978590	0.92982	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000344395;ENST00000536366;ENST00000544442	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.85234	0.5650	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86425	0.1757	9	0.87932	D	0	.	19.6319	0.95708	0.0:1.0:0.0:0.0	.	180;279	E9PFB2;Q9UJX4	.;APC5_HUMAN	Y	180;279;279;180;158;180	.	ENSP00000261819:D279Y	D	-	1	0	ANAPC5	120257834	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.188000	0.77739	2.890000	0.99128	0.650000	0.86243	GAT	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402582.1		-	ENST00000261819.3	Missense_Mutation	SNP	12 : 121773451 - 121773451 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	655	12
APPL2	55198	broad.mit.edu	37	12	105597519	105597519	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:105597519C>A	ENST00000258530.3	-	9	891	c.666G>T	c.(664-666)atG>atT	p.M222I	APPL2_ENST00000539978.2_Missense_Mutation_p.M179I|APPL2_ENST00000551662.1_Missense_Mutation_p.M228I|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	222	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AAAAGCTGTCCATACGTTTGG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	169	169			NA	NA	12		NA											NA				105597519		2203	4300	6503	SO:0001583	missense			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044	55198	55198		Pleckstrin homology (PH) domain containing	18242	protein-coding gene	gene with protein product		606231			NA	11431708, 17030088	Standard	NM_018171	NM_001251904	NA	Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.666G>T	12.37:g.105597519C>A	ENSP00000258530:p.Met222Ile	NA	Q8N4R7|Q9NVL2	37	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301684	0.40694	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.03920	3.76;3.76;3.76	5.56	5.56	0.83823	.	0.037498	0.85682	D	0.000000	T	0.08714	0.0216	L	0.60455	1.87	0.58432	D	0.999999	B;B;B	0.31209	0.313;0.129;0.129	B;B;B	0.30251	0.113;0.053;0.048	T	0.04900	-1.0919	10	0.59425	D	0.04	-30.1684	17.7181	0.88343	0.0:1.0:0.0:0.0	.	228;179;222	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	I	222;179;228	ENSP00000258530:M222I;ENSP00000444472:M179I;ENSP00000446917:M228I	ENSP00000258530:M222I	M	-	3	0	APPL2	104121649	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	5.448000	0.66612	2.620000	0.88729	0.655000	0.94253	ATG	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406238.3		-	ENST00000258530.3	Missense_Mutation	SNP	12 : 105597519 - 105597519 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	1020	20
ARHGEF10L	55160	broad.mit.edu	37	1	17958842	17958842	+	Silent	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:17958842G>A	ENST00000361221.3	+	16	1770	c.1611G>A	c.(1609-1611)ctG>ctA	p.L537L	ARHGEF10L_ENST00000167825.4_Silent_p.L245L|ARHGEF10L_ENST00000375408.3_Silent_p.L315L|ARHGEF10L_ENST00000434513.1_Silent_p.L537L|ARHGEF10L_ENST00000375415.1_Silent_p.L498L|ARHGEF10L_ENST00000452522.1_Silent_p.L498L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375420.3_Silent_p.L295L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	537					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGCGGCAGCTGCTCCTGTGTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	78	78			NA	NA	1		NA											NA				17958842		2203	4300	6503	SO:0001819	synonymous_variant			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964	55160	55160		Rho guanine nucleotide exchange factors	25540	protein-coding gene	gene with protein product	GrinchGEF	612494			NA	10997877, 16112081	Standard	NM_018125	XM_005245923	NA	Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1611G>A	1.37:g.17958842G>A		NA	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	37	CCDS182.1																																																																																			ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007147.1		+	ENST00000361221.3	Silent	SNP	1 : 17958842 - 17958842 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	652	102
ATP7B	540	broad.mit.edu	37	13	52548807	52548807	+	Silent	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:52548807G>A	ENST00000242839.4	-	2	705	c.549C>T	c.(547-549)gcC>gcT	p.A183A	ATP7B_ENST00000344297.5_Silent_p.A183A|ATP7B_ENST00000400366.3_Silent_p.A183A|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000542656.1_Silent_p.A151A|ATP7B_ENST00000418097.2_Silent_p.A183A|ATP7B_ENST00000400370.3_Silent_p.A183A|ATP7B_ENST00000448424.2_Silent_p.A183A	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	183	HMA 2.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		AAGTGATGACGGCCTCTTGGT	0.512		NA							Wilson disease					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	62	61			NA	NA	13		NA											NA				52548807		2083	4211	6294	SO:0001819	synonymous_variant	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	540	540	3.6.3.4	ATPases / P-type	870	protein-coding gene	gene with protein product	Wilson disease, copper pump 2, copper-transporting ATPase 2	606882	ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	WND	NA	8298641, 8298639	Standard	NM_000053	NM_000053	NA	Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.549C>T	13.37:g.52548807G>A		NA	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	37	CCDS41892.1																																																																																			ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045981.1		-	ENST00000242839.4	Silent	SNP	13 : 52548807 - 52548807 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	309	45
BTAF1	9044	broad.mit.edu	37	10	93786913	93786913	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:93786913G>T	ENST00000265990.6	+	37	5570	c.5262G>T	c.(5260-5262)ttG>ttT	p.L1754F	BTAF1_ENST00000544642.1_Missense_Mutation_p.L582F	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1754	Helicase C-terminal.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TATACCGATTGATAACCAGAG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	108	108			NA	NA	10		NA											NA				93786913		2203	4300	6503	SO:0001583	missense			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564	9044	9044			17307	protein-coding gene	gene with protein product	Mot1 homolog (S. cerevisiae)	605191	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)		NA	9342322, 9488487	Standard	NM_003972	NM_003972	NA	Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.5262G>T	10.37:g.93786913G>T	ENSP00000265990:p.Leu1754Phe	NA	O43578	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857996	0.71834	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	T;T	0.79033	-1.23;-1.23	5.52	2.63	0.31362	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.81754	0.4889	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80139	-0.1507	10	0.62326	D	0.03	-8.1932	7.3657	0.26772	0.2012:0.1222:0.6766:0.0	.	1754	O14981	BTAF1_HUMAN	F	1754;582;604	ENSP00000265990:L1754F;ENSP00000439924:L582F	ENSP00000265990:L1754F	L	+	3	2	BTAF1	93776893	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	2.707000	0.47143	0.814000	0.34374	0.561000	0.74099	TTG	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049380.4		+	ENST00000265990.6	Missense_Mutation	SNP	10 : 93786913 - 93786913 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	521	80
C12orf52	0	broad.mit.edu	37	12	113624632	113624632	+	Silent	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:113624632C>T	ENST00000548278.1	+	3	773	c.81C>T	c.(79-81)gtC>gtT	p.V27V	C12orf52_ENST00000552495.1_Silent_p.V51V|C12orf52_ENST00000549621.1_Silent_p.V27V|RP11-545P7.4_ENST00000552525.1_RNA	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN		27					negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GCTACCGGGTCAAGGCCAGGA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	46	48			NA	NA	12		NA											NA				113624632		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000548278.1:c.81C>T	12.37:g.113624632C>T		NA	B3KVZ4|C9JIN1|Q53GM3|Q96K25	37	CCDS9166.1																																																																																			C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405239.1		+	ENST00000548278.1	Silent	SNP	12 : 113624632 - 113624632 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	157	30
C1orf110	339512	broad.mit.edu	37	1	162824970	162824970	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:162824970G>T	ENST00000367912.2	-	4	665	c.491C>A	c.(490-492)cCa>cAa	p.P164Q	C1orf110_ENST00000367911.2_Missense_Mutation_p.P160Q|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367910.1_Missense_Mutation_p.P165Q			Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	NA										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GTCCTTAGATGGATTCACAGA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													266	255	259			NA	NA	1		NA											NA				162824970		1912	4131	6043	SO:0001583	missense			BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860	339512	339512			28736	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178550	NM_178550	NA	Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367912.2:c.491C>A	1.37:g.162824970G>T	ENSP00000356888:p.Pro164Gln	NA	Q5JSG1|Q6ZW57	37		.	.	.	.	.	.	.	.	.	.	G	13.69	2.313572	0.40996	.	.	ENSG00000185860	ENST00000367912;ENST00000367911;ENST00000367910	.	.	.	4.22	2.33	0.28932	.	0.264448	0.27331	N	0.019843	T	0.32466	0.0830	L	0.36672	1.1	0.31767	N	0.6326149999999999	D;D	0.55385	0.971;0.971	P;P	0.56042	0.79;0.79	T	0.26155	-1.0111	8	0.87932	D	0	-1.0E-4	6.5268	0.22305	0.221:0.0:0.779:0.0	.	164;165	Q86UF4-2;Q86UF4	.;CA110_HUMAN	Q	164;160;165	.	ENSP00000356886:P165Q	P	-	2	0	C1orf110	161091594	0.011000	0.17503	0.001000	0.08648	0.014000	0.08584	1.584000	0.36589	0.517000	0.28361	0.655000	0.94253	CCA	C1orf110-001	KNOWN	non_canonical_TEC|basic	protein_coding	NA	protein_coding	OTTHUMT00000083210.3		-	ENST00000367912.2	Missense_Mutation	SNP	1 : 162824970 - 162824970 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	1087	13
C22orf23	84645	broad.mit.edu	37	22	38343336	38343336	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:38343336G>T	ENST00000249079.2	-	4	557	c.301C>A	c.(301-303)Caa>Aaa	p.Q101K	C22orf23_ENST00000403305.1_Missense_Mutation_p.Q101K|C22orf23_ENST00000403026.1_Missense_Mutation_p.Q101K			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	101										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					CCATTGGCTTGACACATGTTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	95	99			NA	NA	22		NA											NA				38343336		2203	4300	6503	SO:0001583	missense			AF324466	CCDS13962.1, CCDS74860.1	22q13.1	2013-10-11			ENSG00000128346	ENSG00000128346	84645	84645			18589	protein-coding gene	gene with protein product					NA	11237012	Standard	NM_032561	NM_032561	NA	Approved	FLJ32787, EVG1, LOC84645	uc003auj.2	Q9BZE7	OTTHUMG00000150672	ENST00000249079.2:c.301C>A	22.37:g.38343336G>T	ENSP00000249079:p.Gln101Lys	NA	Q5JYU9|Q96M68	37	CCDS13962.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240528	0.39598	.	.	ENSG00000128346	ENST00000403305;ENST00000249079;ENST00000403026;ENST00000418863;ENST00000422191	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.38	5.38	0.77491	.	0.060861	0.64402	D	0.000005	T	0.56659	0.2000	M	0.67953	2.075	0.36778	D	0.884186	D	0.56968	0.978	P	0.54499	0.754	T	0.64478	-0.6398	10	0.48119	T	0.1	-15.7245	17.308	0.87200	0.0:0.0:1.0:0.0	.	101	Q9BZE7	EVG1_HUMAN	K	101	ENSP00000384667:Q101K;ENSP00000249079:Q101K;ENSP00000384618:Q101K;ENSP00000395077:Q101K;ENSP00000407707:Q101K	ENSP00000249079:Q101K	Q	-	1	0	C22orf23	36673282	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.719000	0.68462	2.504000	0.84457	0.555000	0.69702	CAA	C22orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319564.1		-	ENST00000249079.2	Missense_Mutation	SNP	22 : 38343336 - 38343336 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	535	15
C8orf34	116328	broad.mit.edu	37	8	69552683	69552683	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:69552683G>A	ENST00000337103.4	+	7	2437	c.845G>A	c.(844-846)cGt>cAt	p.R282H	C8orf34_ENST00000518698.1_Missense_Mutation_p.R393H|C8orf34_ENST00000539993.1_Missense_Mutation_p.R307H|C8orf34_ENST00000325233.3_Missense_Mutation_p.R51H			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	307					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AACCAAGGCCGTCCTACTTAC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	90	92			NA	NA	8		NA											NA				69552683		2203	4300	6503	SO:0001583	missense			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084	116328	116328			30905	protein-coding gene	gene with protein product	vestibule 1				NA		Standard	NM_052958	NM_052958	NA	Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000337103.4:c.845G>A	8.37:g.69552683G>A	ENSP00000337174:p.Arg282His	NA	A8K5X1|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	37		.	.	.	.	.	.	.	.	.	.	G	26.0	4.691944	0.88735	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.63913	0.66;0.71;0.7;-0.07	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.77157	0.4089	L	0.56769	1.78	0.52099	D	0.999942	D	0.89917	1.0	D	0.83275	0.996	T	0.75158	-0.3416	9	.	.	.	-10.9267	19.3134	0.94202	0.0:0.0:1.0:0.0	.	307	Q49A92	CH034_HUMAN	H	393;307;282;51	ENSP00000427820:R393H;ENSP00000438159:R307H;ENSP00000337174:R282H;ENSP00000319532:R51H	.	R	+	2	0	C8orf34	69715237	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.376000	0.97181	2.567000	0.86603	0.585000	0.79938	CGT	C8orf34-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000378768.1		+	ENST00000337103.4	Missense_Mutation	SNP	8 : 69552683 - 69552683 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	621	46
CCDC157	550631	broad.mit.edu	37	22	30766541	30766541	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:30766541C>T	ENST00000405659.1	+	5	1356	c.647C>T	c.(646-648)aCg>aTg	p.T216M	CCDC157_ENST00000338306.3_Missense_Mutation_p.T216M			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	216										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						ACCATTGAGACGGCCCTGGTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	81	84			NA	NA	22		NA											NA				30766541		2203	4300	6503	SO:0001583	missense			BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860	550631	550631			33854	protein-coding gene	gene with protein product					NA		Standard	NM_001017437	NM_001017437	NA	Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.647C>T	22.37:g.30766541C>T	ENSP00000385357:p.Thr216Met	NA	Q0VD76|Q9BYA4	37	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961385	0.92791	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.32515	1.45;1.45	5.54	5.54	0.83059	.	0.129526	0.53938	D	0.000060	T	0.55273	0.1910	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.54490	-0.8286	10	0.87932	D	0	-22.7807	19.2866	0.94077	0.0:1.0:0.0:0.0	.	216	Q569K6	CC157_HUMAN	M	216	ENSP00000385357:T216M;ENSP00000343087:T216M	ENSP00000343087:T216M	T	+	2	0	CCDC157	29096541	1.000000	0.71417	0.959000	0.39883	0.856000	0.48823	7.005000	0.76323	2.884000	0.98904	0.655000	0.94253	ACG	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320936.1		+	ENST00000405659.1	Missense_Mutation	SNP	22 : 30766541 - 30766541 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	317	28
CENPP	401541	broad.mit.edu	37	9	95099894	95099894	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:95099894C>A	ENST00000375587.3	+	3	876	c.361C>A	c.(361-363)Cag>Aag	p.Q121K		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	121					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						ACTTGAATTTCAGATTCTGGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	91	89			NA	NA	9		NA											NA				95099894		2203	4300	6503	SO:0001583	missense			AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312	401541	401541			32933	protein-coding gene	gene with protein product		611505			NA	16622419, 16622420	Standard	NM_001012267	NM_001286969	NA	Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.361C>A	9.37:g.95099894C>A	ENSP00000364737:p.Gln121Lys	NA	B3KS17|Q5T9F8|Q5T9F9	37	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573854	0.45902	.	.	ENSG00000188312	ENST00000375587;ENST00000402724	.	.	.	5.11	3.2	0.36748	.	0.248287	0.32703	N	0.005743	T	0.58807	0.2148	L	0.50333	1.59	0.80722	D	1	P;P	0.46859	0.749;0.885	P;P	0.48770	0.492;0.589	T	0.59804	-0.7385	9	0.48119	T	0.1	-5.334	13.3941	0.60840	0.0:0.6865:0.3135:0.0	.	121;80	Q6IPU0;Q7Z672	CENPP_HUMAN;.	K	121;80	.	ENSP00000364737:Q121K	Q	+	1	0	CENPP	94139715	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.696000	0.37773	0.770000	0.33336	0.655000	0.94253	CAG	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053098.1		+	ENST00000375587.3	Missense_Mutation	SNP	9 : 95099894 - 95099894 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	975	14
CMYA5	202333	broad.mit.edu	37	5	79025398	79025398	+	Silent	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:79025398G>A	ENST00000446378.2	+	2	841	c.810G>A	c.(808-810)gaG>gaA	p.E270E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	270						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTAGTCTAGAGCCAGATTTGG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	48	49			NA	NA	5		NA											NA				79025398		1857	4091	5948	SO:0001819	synonymous_variant			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309	202333	202333		Tripartite motif containing / Tripartite motif containing, A-kinase anchor proteins, Fibronectin type III domain containing	14305	protein-coding gene	gene with protein product	genethonin-3, tripartite motif-containing 76	612193	chromosome 5 open reading frame 10	C5orf10	NA	14688250	Standard	NM_153610	NM_153610	NA	Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.810G>A	5.37:g.79025398G>A		NA	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	37	CCDS47238.1																																																																																			CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369497.1		+	ENST00000446378.2	Silent	SNP	5 : 79025398 - 79025398 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	321	22
CRNN	49860	broad.mit.edu	37	1	152383339	152383339	+	Silent	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:152383339T>C	ENST00000271835.3	-	3	281	c.219A>G	c.(217-219)gaA>gaG	p.E73E	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	73	EF-hand.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCAGGAATTCCTTGAATT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	64	63			NA	NA	1		NA											NA				152383339		2200	4299	6499	SO:0001819	synonymous_variant			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536	49860	49860		EF-hand domain containing	1230	protein-coding gene	gene with protein product		611312	chromosome 1 open reading frame 10	C1orf10	NA	11056050, 15854041	Standard	NM_016190	NM_016190	NA	Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.219A>G	1.37:g.152383339T>C		NA	B2RE60|Q8N613	37	CCDS1010.1																																																																																			CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034503.1		-	ENST00000271835.3	Silent	SNP	1 : 152383339 - 152383339 C PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	491	28
CSF2RB	1439	broad.mit.edu	37	22	37333569	37333569	+	Silent	SNP	G	G	A	rs140662059		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:37333569G>A	ENST00000403662.3	+	14	1941	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P	CSF2RB_ENST00000406230.1_Silent_p.P579P|CSF2RB_ENST00000262825.5_Silent_p.P579P|CSF2RB_ENST00000536485.1_Silent_p.P520P			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	573					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AGCCAGGCCCGCCTGCCGCCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4404		0,0,2202	21	24	23		1719	-10.7	0	22	dbSNP_134	23	2,8592		0,2,4295	no	coding-synonymous	CSF2RB	NM_000395.2		0,2,6497	AA,AG,GG	NA	0.0233,0.0,0.0154		573/898	37333569	2,12996	2202	4297	6499	SO:0001819	synonymous_variant			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368	1439	1439		CD molecules, Fibronectin type III domain containing	2436	protein-coding gene	gene with protein product		138981		IL3RB	NA	1833064, 1424804	Standard	NM_000395	NM_000395	NA	Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1719G>A	22.37:g.37333569G>A		NA	Q5JZI1|Q6ICE0	37	CCDS13936.1																																																																																			CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318854.1		+	ENST00000403662.3	Silent	SNP	22 : 37333569 - 37333569 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	111	19
CYP8B1	1582	broad.mit.edu	37	3	42906734	42906734	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:42906734G>T	ENST00000437102.1	-	2	1429				ACKR2_ENST00000422265.1_Missense_Mutation_p.R247L|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.R247L|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Missense_Mutation_p.R247L			Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	NA					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GGCCAGGGCCGGGCTTTAAAA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	118	119			NA	NA	3		NA											NA				42906734		2203	4300	6503	SO:0001627	intron_variant			AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432	1582	1582		Cytochrome P450s	2653	protein-coding gene	gene with protein product		602172	cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1		NA	10051404	Standard	NM_004391	NM_004391	NA	Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000437102.1:c.1348-8771C>A	3.37:g.42906734G>T		NA	B2RCY3|O75958|Q6NWT2|Q6NWT3	37		.	.	.	.	.	.	.	.	.	.	G	15.11	2.735230	0.48939	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.44881	0.91;0.91;0.91	4.49	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.442477	0.16852	N	0.196877	T	0.59335	0.2186	M	0.88906	2.99	0.80722	D	1	D	0.60160	0.987	P	0.56398	0.797	T	0.62163	-0.6912	9	.	.	.	.	5.7864	0.18336	0.2999:0.0:0.7001:0.0	.	247	O00590	CCBP2_HUMAN	L	247	ENSP00000396150:R247L;ENSP00000416996:R247L;ENSP00000273145:R247L	.	R	+	2	0	CCBP2	42881738	0.030000	0.19436	0.997000	0.53966	0.455000	0.32408	0.934000	0.28910	1.114000	0.41781	0.563000	0.77884	CGG	CYP8B1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000344172.1		-	ENST00000437102.1	Intron	SNP	3 : 42906734 - 42906734 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	774	12
DCP1B	196513	broad.mit.edu	37	12	2062397	2062397	+	Missense_Mutation	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:2062397T>C	ENST00000540622.1	-	4	389	c.331A>G	c.(331-333)Aaa>Gaa	p.K111E	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.K135E|DCP1B_ENST00000280665.6_Missense_Mutation_p.K237E			Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	237					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CATGTAGCTTTGTCCTGCTTC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	59	58			NA	NA	12		NA											NA				2062397		2203	4300	6503	SO:0001583	missense			AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065	196513	196513			24451	protein-coding gene	gene with protein product		609843	DCP1 decapping enzyme homolog B (S. cerevisiae)		NA	12417715, 15067023	Standard	NM_152640	NM_152640	NA	Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000540622.1:c.331A>G	12.37:g.2062397T>C	ENSP00000444374:p.Lys111Glu	NA	Q86XH9|Q96BP8|Q96MZ8	37		.	.	.	.	.	.	.	.	.	.	T	14.59	2.579542	0.46006	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19669	2.19;2.18;2.13	4.93	3.79	0.43588	.	0.725582	0.14262	N	0.330731	T	0.29223	0.0727	M	0.67953	2.075	0.38015	D	0.934657	P;P	0.47762	0.884;0.9	P;B	0.46419	0.516;0.334	T	0.16041	-1.0416	10	0.62326	D	0.03	-2.4726	9.7109	0.40245	0.0:0.0816:0.0:0.9184	.	135;237	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	E	237;135;111	ENSP00000280665:K237E;ENSP00000380358:K135E;ENSP00000444374:K111E	ENSP00000280665:K237E	K	-	1	0	DCP1B	1932658	0.998000	0.40836	0.662000	0.29724	0.161000	0.22273	2.946000	0.49050	0.912000	0.36772	0.528000	0.53228	AAA	DCP1B-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000398246.1		-	ENST00000540622.1	Missense_Mutation	SNP	12 : 2062397 - 2062397 C PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	287	34
DDX46	9879	broad.mit.edu	37	5	134109505	134109505	+	Silent	SNP	C	C	A	rs140064519		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:134109505C>A	ENST00000452510.2	+	5	725	c.567C>A	c.(565-567)atC>atA	p.I189I	DDX46_ENST00000354283.4_Silent_p.I189I	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	189					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAAAGGAAATCGAAGAGATGA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(13;391 453 4901 21675 24897)							NA				0													134	134	134			NA	NA	5		NA											NA				134109505		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833	9879	9879		DEAD-boxes	18681	protein-coding gene	gene with protein product					NA		Standard	NM_014829	XM_005272142	NA	Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000452510.2:c.567C>A	5.37:g.134109505C>A		NA	O94894|Q96EI0|Q9Y658	37																																																																																				DDX46-001	KNOWN	non_canonical_conserved|basic	protein_coding	NA	protein_coding	OTTHUMT00000371583.1		+	ENST00000452510.2	Silent	SNP	5 : 134109505 - 134109505 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	404	20
DIMT1	27292	broad.mit.edu	37	5	61699154	61699154	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:61699154C>A	ENST00000199320.4	-	2	259	c.99G>T	c.(97-99)ggG>ggT	p.G33G	DIMT1_ENST00000506390.1_Silent_p.G33G|KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIMT1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	33						nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity				NA						GCTGCCCAATCCCCGTGTTGA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	140	142			NA	NA	5		NA											NA				61699154		2203	4300	6503	SO:0001819	synonymous_variant			AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189	27292	27292			30217	protein-coding gene	gene with protein product		612499	DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)	DIMT1L	NA	11124703	Standard	NM_014473	NM_014473	NA	Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.99G>T	5.37:g.61699154C>A		NA	O76025|Q9BU77|Q9UES1	37	CCDS3981.1																																																																																			DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253967.1		-	ENST00000199320.4	Silent	SNP	5 : 61699154 - 61699154 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	550	79
DNAH1	25981	broad.mit.edu	37	3	52398935	52398935	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:52398935C>A	ENST00000420323.2	+	34	5679	c.5418C>A	c.(5416-5418)tcC>tcA	p.S1806S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1806					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCATCGTGTCCGACCTGTTTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	89	87			NA	NA	3		NA											NA				52398935		2158	4256	6414	SO:0001819	synonymous_variant			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841	25981	25981		Axonemal dyneins	2940	protein-coding gene	gene with protein product		603332	dynein, axonemal, heavy polypeptide 1		NA	8812413, 9256245	Standard	NM_015512	NM_015512	NA	Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5418C>A	3.37:g.52398935C>A		NA	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	37	CCDS46842.1																																																																																			DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350816.1		+	ENST00000420323.2	Silent	SNP	3 : 52398935 - 52398935 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	363	11
DNAJB14	79982	broad.mit.edu	37	4	100830014	100830014	+	Missense_Mutation	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:100830014T>C	ENST00000442697.2	-	4	645	c.491A>G	c.(490-492)aAg>aGg	p.K164R		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	164	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		CTGTTTTCGCTTTTCTGGATT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	90	92			NA	NA	4		NA											NA				100830014		2202	4299	6501	SO:0001583	missense			BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031	79982	79982		Heat shock proteins / DNAJ (HSP40)	25881	protein-coding gene	gene with protein product					NA		Standard	NM_001031723.2	NM_001031723	NA	Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.491A>G	4.37:g.100830014T>C	ENSP00000404381:p.Lys164Arg	NA	Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	37	CCDS34035.1	.	.	.	.	.	.	.	.	.	.	T	31	5.079506	0.94050	.	.	ENSG00000164031	ENST00000442697	T	0.35973	1.28	5.8	5.8	0.92144	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	N	0.20685	0.6	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.78314	0.954;0.991	T	0.50608	-0.8808	10	0.62326	D	0.03	.	16.1549	0.81657	0.0:0.0:0.0:1.0	.	164;79	Q8TBM8;Q8TBM8-2	DJB14_HUMAN;.	R	164	ENSP00000404381:K164R	ENSP00000404381:K164R	K	-	2	0	DNAJB14	101049037	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.490000	0.81461	2.209000	0.71365	0.533000	0.62120	AAG	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253696.2		-	ENST00000442697.2	Missense_Mutation	SNP	4 : 100830014 - 100830014 C PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	545	49
DSE	29940	broad.mit.edu	37	6	116756757	116756757	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:116756757G>T	ENST00000331677.3	+	7	1570	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C	DSE_ENST00000537543.1_Missense_Mutation_p.G395C|DSE_ENST00000359564.2_Missense_Mutation_p.G376C|DSE_ENST00000452085.3_Missense_Mutation_p.G376C			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	376					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CAGGTATGATGGCAGCTTGAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	78	78			NA	NA	6		NA											NA				116756757		2203	4300	6503	SO:0001583	missense			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	29940	29940	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	squamous cell carcinoma antigen recognized by T cells 2	SART2	NA	11920522, 16505484	Standard	NM_013352	NM_001080976	NA	Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1126G>T	6.37:g.116756757G>T	ENSP00000332151:p.Gly376Cys	NA	Q5R3K6	37	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647492	0.29246	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.99	5.11	0.69529	.	0.107851	0.64402	D	0.000006	T	0.04452	0.0122	N	0.08118	0	0.29751	N	0.836299	B;B	0.14438	0.01;0.01	B;B	0.11329	0.006;0.003	T	0.27226	-1.0080	10	0.62326	D	0.03	-11.7541	17.1813	0.86856	0.0:0.1261:0.8739:0.0	.	395;376	B7Z765;Q9UL01	.;DSE_HUMAN	C	376;395;376;376	ENSP00000404049:G376C;ENSP00000441152:G395C;ENSP00000332151:G376C;ENSP00000352567:G376C	ENSP00000332151:G376C	G	+	1	0	DSE	116863450	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.663000	0.68038	1.499000	0.48617	0.655000	0.94253	GGC	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041940.2		+	ENST00000331677.3	Missense_Mutation	SNP	6 : 116756757 - 116756757 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	434	9
ENPP3	5169	broad.mit.edu	37	6	131979467	131979467	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:131979467G>T	ENST00000414305.1	+	7	797	c.469G>T	c.(469-471)Gac>Tac	p.D157Y	ENPP3_ENST00000543135.1_Missense_Mutation_p.D123Y|ENPP3_ENST00000358229.5_Missense_Mutation_p.D157Y|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.D157Y|ENPP3_ENST00000427148.2_Missense_Mutation_p.D123Y			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	157	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TTTCAGGTTTGACCTGCCACC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	133	134			NA	NA	6		NA											NA				131979467		2202	4300	6502	SO:0001583	missense			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	5169	5169	3.1.4.1, 3.6.1.9	CD molecules	3358	protein-coding gene	gene with protein product		602182		PDNP3	NA	9344668	Standard		NM_005021	NA	Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.469G>T	6.37:g.131979467G>T	ENSP00000406261:p.Asp157Tyr	NA	Q5JTL3	37	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432322	0.62844	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000427148;ENST00000358229	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	5.46	5.46	0.80206	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.726895	0.12959	N	0.425153	T	0.77032	0.4071	M	0.73962	2.25	0.38009	D	0.934463	P	0.47545	0.897	P	0.49561	0.615	T	0.79536	-0.1763	10	0.66056	D	0.02	-12.1846	16.5792	0.84710	0.0:0.0:1.0:0.0	.	157	O14638	ENPP3_HUMAN	Y	157;157;123;123;157	ENSP00000406261:D157Y;ENSP00000350265:D157Y;ENSP00000440810:D123Y;ENSP00000399269:D123Y;ENSP00000350964:D157Y	ENSP00000350265:D157Y	D	+	1	0	ENPP3	132021160	1.000000	0.71417	0.998000	0.56505	0.671000	0.39405	2.644000	0.46613	2.722000	0.93159	0.650000	0.86243	GAC	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043627.2		+	ENST00000414305.1	Missense_Mutation	SNP	6 : 131979467 - 131979467 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	283	8
FAM183B	340286	broad.mit.edu	37	7	38725296	38725296	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:38725296G>A	ENST00000409072.3	-	2	1244	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C						family with sequence similarity 183, member B	NA										endometrium(1)|lung(7)	8						TGGTCACGGCGTTCTGGGTCG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,3988		0,0,1994	183	183	183			0	0	7		183	2,8344		0,2,4171	no	intergenic				0,2,6165	AA,AG,GG	NA	0.024,0.0,0.0162			38725296	2,12332	1994	4173	6167	SO:0001583	missense			AK124132, BC045803		7p14.1	2008-08-11			ENSG00000164556	ENSG00000164556	340286	340286			34511	protein-coding gene	gene with protein product					NA		Standard	NM_001105282	NR_028347	NA	Approved	LOC340286	uc011kbd.2	Q6ZVS7	OTTHUMG00000153653	ENST00000409072.3:c.310C>T	7.37:g.38725296G>A	ENSP00000386657:p.Arg104Cys	NA		37		.	.	.	.	.	.	.	.	.	.	G	10.13	1.264836	0.23136	0.0	2.4E-4	ENSG00000164556	ENST00000409072	.	.	.	0.962	0.0343	0.14183	.	0.163918	0.38720	N	0.001598	T	0.34803	0.0910	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.26503	-1.0101	6	0.72032	D	0.01	.	3.2511	0.06815	0.3098:0.0:0.6902:0.0	.	.	.	.	C	104	.	ENSP00000386657:R104C	R	-	1	0	FAM183B	38691821	0.002000	0.14202	0.005000	0.12908	0.002000	0.02628	-0.238000	0.08977	-0.019000	0.14055	-0.251000	0.11542	CGC	FAM183B-001	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000331972.1		-	ENST00000409072.3	Missense_Mutation	SNP	7 : 38725296 - 38725296 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	1049	289
FASTK	10922	broad.mit.edu	37	7	150775665	150775665	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:150775665G>A	ENST00000297532.6	-	4	886	c.809C>T	c.(808-810)aCg>aTg	p.T270M	FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Missense_Mutation_p.T129M|FASTK_ENST00000482571.1_Missense_Mutation_p.T243M|FASTK_ENST00000489884.1_5'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	270					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GCTGAGTTGCGTTTCCTGAAC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR,MET/THR	0,4406		0,0,2203	58	60	59		809,386	0.7	1	7		59	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FASTK	NM_006712.3,NM_033015.2	81,81	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign,benign	270/550,129/409	150775665	1,13005	2203	4300	6503	SO:0001583	missense				CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896	10922	10922			24676	protein-coding gene	gene with protein product		606965			NA	7544399, 15572676	Standard	NM_006712	NM_006712	NA	Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.809C>T	7.37:g.150775665G>A	ENSP00000297532:p.Thr270Met	NA	A8K867	37	CCDS5918.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657389	0.29425	0.0	1.16E-4	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000353841;ENST00000297532;ENST00000482571	T;T;T	0.30448	1.94;1.94;1.53	4.75	0.664	0.17890	.	0.729997	0.12332	N	0.478305	T	0.11793	0.0287	N	0.08118	0	0.80722	D	1	P;B;B	0.47545	0.897;0.002;0.0	B;B;B	0.37091	0.241;0.001;0.0	T	0.10660	-1.0620	10	0.56958	D	0.05	6.7165	3.399	0.07316	0.0809:0.2673:0.3781:0.2737	.	243;129;270	F8VTW9;Q8IVA0;Q14296	.;.;FASTK_HUMAN	M	270;270;129;270;243	ENSP00000324817:T129M;ENSP00000297532:T270M;ENSP00000418516:T243M	ENSP00000297530:T270M	T	-	2	0	FASTK	150406598	1.000000	0.71417	0.964000	0.40570	0.859000	0.49053	1.929000	0.40114	0.003000	0.14656	-0.152000	0.13540	ACG	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351832.2		-	ENST00000297532.6	Missense_Mutation	SNP	7 : 150775665 - 150775665 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	220	51
FGD4	121512	broad.mit.edu	37	12	32778699	32778699	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:32778699C>A	ENST00000525053.1	+	14	2167	c.2083C>A	c.(2083-2085)Cga>Aga	p.R695R	FGD4_ENST00000266482.3_Silent_p.R335R|FGD4_ENST00000546442.1_Silent_p.R490R|FGD4_ENST00000534526.2_Silent_p.R720R|FGD4_ENST00000531134.1_Silent_p.R668R|FGD4_ENST00000427716.2_Silent_p.R583R			Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	583	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GCATCATTGTCGAGCATGTGG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	136	137			NA	NA	12		NA											NA				32778699		2203	4300	6503	SO:0001819	synonymous_variant			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132	121512	121512		Zinc fingers, FYVE domain containing, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	19125	protein-coding gene	gene with protein product		611104	FGD1 family, member 4		NA	11527409	Standard	NM_139241	NM_139241	NA	Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000525053.1:c.2083C>A	12.37:g.32778699C>A		NA	Q6ULS2|Q8TCP6	37																																																																																				FGD4-011	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390888.1		+	ENST00000525053.1	Silent	SNP	12 : 32778699 - 32778699 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	729	17
GFRAL	389400	broad.mit.edu	37	6	55216353	55216353	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:55216353C>T	ENST00000340465.2	+	5	759	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	225						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAGTGTAATTCGCAGCTGCCA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	65	65			NA	NA	6		NA											NA				55216353		2203	4300	6503	SO:0001583	missense			AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871	389400	389400			32789	protein-coding gene	gene with protein product			chromosome 6 open reading frame 144	C6orf144	NA	16086688	Standard	NM_207410	NM_207410	NA	Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.673C>T	6.37:g.55216353C>T	ENSP00000343636:p.Arg225Cys	NA	Q5VTF6	37	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588449	0.86851	.	.	ENSG00000187871	ENST00000340465	T	0.64991	-0.13	6.05	6.05	0.98169	GDNF/GAS1 (2);	0.376195	0.29424	N	0.012190	T	0.62551	0.2437	L	0.34521	1.04	0.43014	D	0.994552	D	0.67145	0.996	P	0.56788	0.806	T	0.64084	-0.6490	10	0.62326	D	0.03	-2.3631	20.6087	0.99469	0.0:1.0:0.0:0.0	.	225	Q6UXV0	GFRAL_HUMAN	C	225	ENSP00000343636:R225C	ENSP00000343636:R225C	R	+	1	0	GFRAL	55324312	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	3.954000	0.56708	2.866000	0.98385	0.650000	0.86243	CGC	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040995.2		+	ENST00000340465.2	Missense_Mutation	SNP	6 : 55216353 - 55216353 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	312	20
HMGCR	3156	broad.mit.edu	37	5	74643116	74643116	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:74643116G>A	ENST00000287936.4	+	6	694	c.538G>A	c.(538-540)Gga>Aga	p.G180R	HMGCR_ENST00000343975.5_Missense_Mutation_p.G180R|HMGCR_ENST00000511206.1_Missense_Mutation_p.G180R	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	180					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TCTTGTGATTGGAGTTGGTAC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													301	275	284			NA	NA	5		NA											NA				74643116		2203	4300	6503	SO:0001583	missense				CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	3156	3156	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	hydroxymethylglutaryl-CoA reductase, 3-hydroxy-3-methylglutaryl CoA reductase (NADPH)	142910	3-hydroxy-3-methylglutaryl-Coenzyme A reductase		NA		Standard		NM_000859	NA	Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.538G>A	5.37:g.74643116G>A	ENSP00000287936:p.Gly180Arg	NA	Q8N190	37	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021820	0.93462	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	D;D;D	0.91945	-2.94;-2.94;-2.94	5.33	5.33	0.75918	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95868	0.8655	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.95438	0.8523	10	0.46703	T	0.11	-22.7867	18.6124	0.91290	0.0:0.0:1.0:0.0	.	180;180;180;180	B2R649;A8KA27;P04035-2;P04035	.;.;.;HMDH_HUMAN	R	180;111;180;180	ENSP00000426745:G180R;ENSP00000287936:G180R;ENSP00000340816:G180R	ENSP00000287936:G180R	G	+	1	0	HMGCR	74678872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.767000	0.98960	2.459000	0.83118	0.650000	0.86243	GGA	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219877.2		+	ENST00000287936.4	Missense_Mutation	SNP	5 : 74643116 - 74643116 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	811	8
HTR2A	3356	broad.mit.edu	37	13	47409499	47409499	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:47409499G>A	ENST00000378688.4	-	3	1020	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	HTR2A_ENST00000543956.1_Missense_Mutation_p.R213W|HTR2A_ENST00000542664.1_Missense_Mutation_p.R297W			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	297					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGGATCGACCGCTGGAAGAGC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	85	76	79		889,637	0.5	1	13		79	0,8600	1.2+/-3.3	0,0,4300	no	missense,missense	HTR2A	NM_000621.3,NM_001165947.1	101,101	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	297/472,213/388	47409499	1,13005	2203	4300	6503	SO:0001583	missense			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468	3356	3356		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5293	protein-coding gene	gene with protein product		182135	5-hydroxytryptamine (serotonin) receptor 2A	HTR2	NA	8035173	Standard	NM_000621	NM_000621	NA	Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.889C>T	13.37:g.47409499G>A	ENSP00000367959:p.Arg297Trp	NA	B2RAC5|Q5T8C0	37	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180129	0.57800	2.27E-4	0.0	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.63417	0.27;-0.04;0.27	5.78	0.475	0.16774	GPCR, rhodopsin-like superfamily (1);	0.124540	0.53938	D	0.000048	T	0.81536	0.4843	M	0.91872	3.25	0.45477	D	0.998448	D;D	0.89917	0.999;1.0	D;D	0.74348	0.94;0.983	D	0.84763	0.0763	10	0.62326	D	0.03	.	15.9291	0.79646	0.0:0.0:0.4023:0.5977	.	213;297	F5GWE8;P28223	.;5HT2A_HUMAN	W	297;213;297	ENSP00000367959:R297W;ENSP00000441861:R213W;ENSP00000437737:R297W	ENSP00000367959:R297W	R	-	1	2	HTR2A	46307500	1.000000	0.71417	0.984000	0.44739	0.974000	0.67602	3.113000	0.50376	-0.155000	0.11098	-0.293000	0.09583	CGG	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044835.3		-	ENST00000378688.4	Missense_Mutation	SNP	13 : 47409499 - 47409499 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	252	39
HYDIN	54768	broad.mit.edu	37	16	70843895	70843895	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr16:70843895C>A	ENST00000393567.2	-	85	14824	c.14674G>T	c.(14674-14676)Gaa>Taa	p.E4892*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4892										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGCTGAAATTCAAATGAGAAC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	194	192			NA	NA	16		NA											NA				70843895		1938	4135	6073	SO:0001587	stop_gained			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423	54768	54768		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	19368	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 31	610812	hydrocephalus inducing, hydrocephalus inducing homolog (mouse)		NA	12719380, 23022101	Standard		NM_001198542	NA	Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.14674G>T	16.37:g.70843895C>A	ENSP00000377197:p.Glu4892*	NA	A6NC70|A6NLZ0|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	56	26.157347	0.99968	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	6.08	6.08	0.98989	.	0.000000	0.31797	U	0.007056	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	20.2585	0.98435	0.0:1.0:0.0:0.0	.	.	.	.	X	4892;4891	.	ENSP00000313052:E4891X	E	-	1	0	HYDIN	69401396	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.302000	0.78861	2.894000	0.99253	0.655000	0.94253	GAA	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398624.3		-	ENST00000393567.2	Nonsense_Mutation	SNP	16 : 70843895 - 70843895 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	814	29
IDI1	3422	broad.mit.edu	37	10	1087287	1087287	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:1087287G>T	ENST00000381344.3	-	5	861	c.695C>A	c.(694-696)tCa>tAa	p.S232*	IDI2-AS1_ENST00000536039.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000420381.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	175					carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		TTCTTCCTTTGACACATAACA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	94	94			NA	NA	10		NA											NA				1087287		2202	4299	6501	SO:0001587	stop_gained			BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	3422	3422	5.3.3.2		5387	protein-coding gene	gene with protein product	IPP isomerase	604055	isopentenyl-diphosphate delta isomerase		NA	8020941	Standard	NM_004508	NM_004508	NA	Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.695C>A	10.37:g.1087287G>T	ENSP00000370748:p.Ser232*	NA	B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	37	CCDS7056.1	.	.	.	.	.	.	.	.	.	.	G	34	5.401817	0.96030	.	.	ENSG00000067064	ENST00000381344	.	.	.	5.72	5.72	0.89469	.	0.564741	0.19803	N	0.105709	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.3922	20.2504	0.98404	0.0:0.0:1.0:0.0	.	.	.	.	X	232	.	ENSP00000370748:S232X	S	-	2	0	IDI1	1077287	1.000000	0.71417	0.948000	0.38648	0.595000	0.36748	5.650000	0.67944	2.850000	0.98022	0.650000	0.86243	TCA	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046409.2		-	ENST00000381344.3	Nonsense_Mutation	SNP	10 : 1087287 - 1087287 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	466	13
IQCG	84223	broad.mit.edu	37	3	197665429	197665429	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:197665429G>T	ENST00000265239.6	-	5	929	c.505C>A	c.(505-507)Cag>Aag	p.Q169K	IQCG_ENST00000453254.1_Missense_Mutation_p.Q169K|IQCG_ENST00000455191.1_Missense_Mutation_p.Q169K	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	169										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CTATCAATCTGAATTTTCTTC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													210	201	204			NA	NA	3		NA											NA				197665429		2203	4300	6503	SO:0001583	missense			AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473	84223	84223			25251	protein-coding gene	gene with protein product	dynein regulatory complex subunit 9	612477			NA	11230166, 23427265, 24362311	Standard	NM_032263	NM_032263	NA	Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.505C>A	3.37:g.197665429G>T	ENSP00000265239:p.Gln169Lys	NA	Q9BST2|Q9HAG8	37	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251946	0.80135	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.57107	0.66;0.66;0.96;0.42	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.81341	2.54	0.46927	D	0.999252	P;D	0.89917	0.911;1.0	P;D	0.71656	0.558;0.974	T	0.75764	-0.3203	10	0.59425	D	0.04	-21.4276	16.5383	0.84377	0.0:0.0:1.0:0.0	.	169;169	C9JKX8;Q9H095	.;IQCG_HUMAN	K	169;169;169;150	ENSP00000265239:Q169K;ENSP00000407736:Q169K;ENSP00000389897:Q169K;ENSP00000406411:Q150K	ENSP00000265239:Q169K	Q	-	1	0	IQCG	199149826	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	3.181000	0.50903	2.759000	0.94783	0.558000	0.71614	CAG	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339730.1		-	ENST00000265239.6	Missense_Mutation	SNP	3 : 197665429 - 197665429 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	802	16
KIRREL	55243	broad.mit.edu	37	1	158057941	158057941	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:158057941C>A	ENST00000368172.1	+	3	319	c.307C>A	c.(307-309)Cac>Aac	p.H103N	KIRREL_ENST00000392272.2_Missense_Mutation_p.H202N|KIRREL_ENST00000416935.2_Missense_Mutation_p.H205N|KIRREL_ENST00000360089.4_Missense_Mutation_p.H141N|KIRREL_ENST00000359209.6_Missense_Mutation_p.H305N|KIRREL_ENST00000368173.3_Missense_Mutation_p.H305N			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	305	Ig-like C2-type 1.					integral to membrane		p.H305N(2)|p.H141N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					AGTAAATGTCCACTGTGAGTA	0.532		NA									OREG0013906	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				3	Substitution - Missense(3)	lung(3)											122	130	127			NA	NA	1		NA											NA				158057941		2203	4300	6503	SO:0001583	missense			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853	55243	55243		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	15734	protein-coding gene	gene with protein product	nephrin-like protein 1	607428			NA	12424224	Standard	NM_018240	NM_001286349	NA	Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000368172.1:c.307C>A	1.37:g.158057941C>A	ENSP00000357154:p.His103Asn	1790	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	37		.	.	.	.	.	.	.	.	.	.	C	19.70	3.875650	0.72180	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76	5.44	5.44	0.79542	.	0.000000	0.45606	D	0.000341	T	0.07683	0.0193	L	0.45228	1.405	0.80722	D	1	P;P;P;P	0.44521	0.605;0.571;0.684;0.837	B;B;B;B	0.43536	0.288;0.312;0.423;0.346	T	0.16453	-1.0402	10	0.37606	T	0.19	-44.7724	16.7618	0.85514	0.0:1.0:0.0:0.0	.	205;141;103;305	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	N	141;305;202;305;205;103	ENSP00000353202:H141N;ENSP00000357155:H305N;ENSP00000376098:H202N;ENSP00000352138:H305N;ENSP00000389674:H205N;ENSP00000357154:H103N	ENSP00000352138:H305N	H	+	1	0	KIRREL	156324565	0.994000	0.37717	0.996000	0.52242	0.987000	0.75469	3.117000	0.50407	2.557000	0.86248	0.557000	0.71058	CAC	KIRREL-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000058344.2		+	ENST00000368172.1	Missense_Mutation	SNP	1 : 158057941 - 158057941 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	681	11
KMO	8564	broad.mit.edu	37	1	241714324	241714324	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:241714324C>A	ENST00000366559.4	+	4	603	c.292C>A	c.(292-294)Ccc>Acc	p.P98T	KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366557.4_Missense_Mutation_p.P98T|KMO_ENST00000366558.3_Missense_Mutation_p.P98T	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	98					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GTCTGCAATTCCCTATGGGAC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	158	159			NA	NA	1		NA											NA				241714324		2203	4300	6503	SO:0001583	missense			AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	8564	8564	1.14.13.9		6381	protein-coding gene	gene with protein product		603538			NA	9237672	Standard	NM_003679	NM_003679	NA	Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.292C>A	1.37:g.241714324C>A	ENSP00000355517:p.Pro98Thr	NA	A2A2U8|A2A2U9|A2A2V0|Q5SY07|Q5SY08|Q5SY09	37	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580937	0.65992	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.49432	0.78;0.78;0.78	6.17	6.17	0.99709	Monooxygenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.72391	0.3454	M	0.87456	2.885	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73708	0.981;0.981;0.977	T	0.72312	-0.4331	10	0.40728	T	0.16	.	16.3795	0.83443	0.0:1.0:0.0:0.0	.	98;98;98	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	T	98	ENSP00000355517:P98T;ENSP00000355516:P98T;ENSP00000355515:P98T	ENSP00000355515:P98T	P	+	1	0	KMO	239780947	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	2.444000	0.44890	2.941000	0.99782	0.655000	0.94253	CCC	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095612.1		+	ENST00000366559.4	Missense_Mutation	SNP	1 : 241714324 - 241714324 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	675	11
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	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-XN-A8T3-Tumor-SM-5KWXU	493	106
KRT18	3875	broad.mit.edu	37	12	53344192	53344192	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:53344192C>A	ENST00000550600.1	+	3	552	c.498C>A	c.(496-498)gtC>gtA	p.V166V	KRT18_ENST00000388835.3_Silent_p.V166V|KRT18_ENST00000388837.2_Silent_p.V166V			P05783	K1C18_HUMAN	keratin 18	166	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						ACTTTAGAGTCAAGTAAGTTT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	210	207			NA	NA	12		NA											NA				53344192		2203	4300	6503	SO:0001819	synonymous_variant				CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057	3875	3875		-, Intermediate filaments type I, keratins (acidic)	6430	protein-coding gene	gene with protein product		148070			NA	1705144, 16831889	Standard	NM_199187	NM_000224	NA	Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000550600.1:c.498C>A	12.37:g.53344192C>A		NA	Q53G38|Q5U0N8|Q9BW26	37																																																																																				KRT18-001	PUTATIVE	overlapping_uORF|basic	protein_coding	NA	protein_coding	OTTHUMT00000406404.1		+	ENST00000550600.1	Silent	SNP	12 : 53344192 - 53344192 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	1216	19
KRT20	54474	broad.mit.edu	37	17	39034482	39034482	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:39034482C>A	ENST00000167588.3	-	6	1095	c.1054G>T	c.(1054-1056)Gaa>Taa	p.E352*		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	352	Coil 2.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				ATATGGTATTCGTTGTTCTGG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													275	229	245			NA	NA	17		NA											NA				39034482		2203	4300	6503	SO:0001587	stop_gained			BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431	54474	54474		-, Intermediate filaments type I, keratins (acidic)	20412	protein-coding gene	gene with protein product		608218			NA	8359595, 12515621, 16831889	Standard		NM_019010	NA	Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.1054G>T	17.37:g.39034482C>A	ENSP00000167588:p.Glu352*	NA	B2R6W7	37	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280293	0.80692	.	.	ENSG00000171431	ENST00000167588	.	.	.	5.0	3.96	0.45880	.	0.095097	0.45361	D	0.000366	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.7896	0.69830	0.0:0.8551:0.1449:0.0	.	.	.	.	X	352	.	ENSP00000167588:E352X	E	-	1	0	KRT20	36288008	1.000000	0.71417	0.042000	0.18584	0.018000	0.09664	4.686000	0.61700	2.310000	0.77875	0.591000	0.81541	GAA	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257202.2		-	ENST00000167588.3	Nonsense_Mutation	SNP	17 : 39034482 - 39034482 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	814	9
KRTAP9-9	81870	broad.mit.edu	37	17	39412064	39412064	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:39412064G>A	ENST00000394008.1	+	1	429	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	143						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCCGCCCCGCCTGCTGTGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	0,4406		0,0,2203	153	161	158		427	-2.5	0	17		158	1,8599		0,1,4299	no	missense	KRTAP9-9	NM_030975.2	58	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	143/170	39412064	1,13005	2203	4300	6503	SO:0001583	missense			AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083	81870	81870		Keratin associated proteins	16773	protein-coding gene	gene with protein product			keratin associated protein 9-5	KRTAP9-5	NA	11279113	Standard	NM_030975	NM_030975	NA	Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.427G>A	17.37:g.39412064G>A	ENSP00000377576:p.Ala143Thr	NA		37	CCDS54127.1	.	.	.	.	.	.	.	.	.	.	.	14.35	2.507999	0.44558	0.0	1.16E-4	ENSG00000198083	ENST00000431129;ENST00000394008	T	0.01295	5.04	2.85	-2.54	0.06307	.	.	.	.	.	T	0.00524	0.0017	N	0.00879	-1.12	0.09310	N	1	B	0.17268	0.021	B	0.08055	0.003	T	0.44982	-0.9292	9	0.37606	T	0.19	.	3.7095	0.08414	0.5122:0.0:0.3091:0.1786	.	128	Q9BYP9	KRA99_HUMAN	T	149;143	ENSP00000377576:A143T	ENSP00000377576:A143T	A	+	1	0	KRTAP9-9	36665590	0.000000	0.05858	0.000000	0.03702	0.448000	0.32197	-1.026000	0.03596	-0.748000	0.04753	0.205000	0.17691	GCC	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257710.1		+	ENST00000394008.1	Missense_Mutation	SNP	17 : 39412064 - 39412064 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	670	62
LGALS3	3958	broad.mit.edu	37	14	55609433	55609433	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:55609433C>A	ENST00000554715.1	+	5	608	c.563C>A	c.(562-564)tCg>tAg	p.S188*	LGALS3_ENST00000553755.1_3'UTR|LGALS3_ENST00000254301.9_Nonsense_Mutation_p.S188*			P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3	188	Galectin.				cell differentiation|innate immune response|mRNA processing|RNA splicing	mitochondrial inner membrane|plasma membrane|spliceosomal complex	IgE binding|sugar binding			central_nervous_system(1)|endometrium(1)|prostate(1)	3						GAAAGACAGTCGGTTTTCCCA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	91	91			NA	NA	14		NA											NA				55609433		1841	4082	5923	SO:0001587	stop_gained			M64303	CCDS41956.1	14q22.3	2014-03-19	2007-02-01		ENSG00000131981	ENSG00000131981	3958	3958		Lectins, galactoside-binding, Endogenous ligands	6563	protein-coding gene	gene with protein product	galectin 3	153619		LGALS2	NA	2009535, 8063692	Standard	NM_002306	NR_003225	NA	Approved	MAC-2, GALIG	uc001xbr.3	P17931	OTTHUMG00000171030	ENST00000554715.1:c.563C>A	14.37:g.55609433C>A	ENSP00000451381:p.Ser188*	NA	B2RC38|Q16005|Q6IBA7|Q96J47	37		.	.	.	.	.	.	.	.	.	.	C	0.210	-1.037361	0.02013	.	.	ENSG00000131981	ENST00000254301;ENST00000554715	.	.	.	5.17	-10.3	0.00346	.	2.220440	0.01516	N	0.018150	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	1.5974	0.02667	0.276:0.237:0.0846:0.4024	.	.	.	.	X	188	.	ENSP00000254301:S188X	S	+	2	0	LGALS3	54679186	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.047000	0.03521	-2.007000	0.00956	-0.150000	0.13652	TCG	LGALS3-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411311.1		+	ENST00000554715.1	Nonsense_Mutation	SNP	14 : 55609433 - 55609433 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	577	24
LRRC7	57554	broad.mit.edu	37	1	70446077	70446077	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:70446077C>A	ENST00000310961.5	+	10	1046	c.628C>A	c.(628-630)Caa>Aaa	p.Q210K	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.Q205K			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	205						centrosome|focal adhesion|nucleolus	protein binding	p.Q205K(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGTTCTGGATCAAATACAAAA	0.328		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)											162	167	165			NA	NA	1		NA											NA				70446077		2203	4300	6503	SO:0001583	missense				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122	57554	57554			18531	protein-coding gene	gene with protein product		614453			NA	12525888	Standard	NM_020794	NM_020794	NA	Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000310961.5:c.628C>A	1.37:g.70446077C>A	ENSP00000309245:p.Gln210Lys	NA	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	37		.	.	.	.	.	.	.	.	.	.	C	18.70	3.679363	0.68042	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.23950	1.88;1.9	5.25	5.25	0.73442	.	0.059688	0.64402	D	0.000002	T	0.11153	0.0272	N	0.13168	0.305	0.80722	D	1	P	0.40197	0.706	B	0.43623	0.425	T	0.11299	-1.0593	10	0.25751	T	0.34	.	16.3726	0.83370	0.0:1.0:0.0:0.0	.	205	Q96NW7	LRRC7_HUMAN	K	210;205;28	ENSP00000309245:Q210K;ENSP00000035383:Q205K	ENSP00000035383:Q205K	Q	+	1	0	LRRC7	70218665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.238000	0.78173	2.608000	0.88229	0.650000	0.86243	CAA	LRRC7-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000131262.2		+	ENST00000310961.5	Missense_Mutation	SNP	1 : 70446077 - 70446077 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	938	22
LUZP4	51213	broad.mit.edu	37	X	114540856	114540856	+	Silent	SNP	G	G	A	rs148942179		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:114540856G>A	ENST00000371920.3	+	4	436	c.429G>A	c.(427-429)ccG>ccA	p.P143P	LUZP4_ENST00000451986.2_Silent_p.P61P	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	143						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						AAGGAAATCCGGACAAATCAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,3835		0,0,1632,571	85	80	82		429	-2.5	0	X	dbSNP_134	82	2,6726		0,2,2426,1872	no	coding-synonymous	LUZP4	NM_016383.3		0,2,4058,2443	AA,AG,GG,G	NA	0.0297,0.0,0.0189		143/314	114540856	2,10561	2203	4300	6503	SO:0001819	synonymous_variant			AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021	51213	51213			24971	protein-coding gene	gene with protein product	cancer/testis antigen 28	300616			NA	12032826, 11051238	Standard	NM_016383	XM_005268343	NA	Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.429G>A	X.37:g.114540856G>A		NA		37	CCDS14567.1																																																																																			LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057972.1		+	ENST00000371920.3	Silent	SNP	X : 114540856 - 114540856 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	185	38
MAGI3	260425	broad.mit.edu	37	1	114184571	114184571	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:114184571G>T	ENST00000307546.9	+	10	1474	c.1399G>T	c.(1399-1401)Ggt>Tgt	p.G467C	MAGI3_ENST00000369611.4_Missense_Mutation_p.G467C|MAGI3_ENST00000369615.1_Missense_Mutation_p.G467C|MAGI3_ENST00000369617.4_Missense_Mutation_p.G492C	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	492	Interaction with PTEN.|PDZ 2.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTGTCCTCGGTCACACTCA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	152	158			NA	NA	1		NA											NA				114184571		2203	4300	6503	SO:0001583	missense			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026	260425	260425			29647	protein-coding gene	gene with protein product		615943			NA	10997877, 10748157	Standard	NM_152900	NM_152900	NA	Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1399G>T	1.37:g.114184571G>T	ENSP00000304604:p.Gly467Cys	NA	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	37	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456418	0.84317	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.83317	0.5228	H	0.98918	4.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89889	0.4036	10	0.87932	D	0	-28.5003	19.4992	0.95086	0.0:0.0:1.0:0.0	.	467;467;492	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	C	492;467;467;467	ENSP00000358630:G492C;ENSP00000304604:G467C;ENSP00000358628:G467C;ENSP00000358624:G467C	ENSP00000304604:G467C	G	+	1	0	MAGI3	113986094	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.420000	0.97426	2.689000	0.91719	0.655000	0.94253	GGT	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032429.1		+	ENST00000307546.9	Missense_Mutation	SNP	1 : 114184571 - 114184571 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	593	11
MAMDC2	256691	broad.mit.edu	37	9	72785470	72785470	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:72785470G>A	ENST00000377182.4	+	11	2191	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q	MAMDC2-AS1_ENST00000535188.1_RNA|MAMDC2-AS1_ENST00000377178.3_RNA|MAMDC2-AS1_ENST00000448377.3_RNA|MAMDC2_ENST00000460688.1_3'UTR|MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	525	MAM 4.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						AAAAGAAACCGGAGCAGCTGG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	76	78			NA	NA	9		NA											NA				72785470		2203	4300	6503	SO:0001583	missense			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072	256691	256691			23673	protein-coding gene	gene with protein product		612879			NA		Standard	NM_153267	NM_153267	NA	Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1574G>A	9.37:g.72785470G>A	ENSP00000366387:p.Arg525Gln	NA	Q5VW47|Q8WX43|Q96BM4	37	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995045	0.74703	.	.	ENSG00000165072	ENST00000377182	T	0.01963	4.53	5.25	4.33	0.51752	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.500904	0.21233	N	0.077953	T	0.02767	0.0083	N	0.16478	0.41	0.43118	D	0.994837	P	0.40602	0.723	B	0.44315	0.446	T	0.67799	-0.5577	10	0.25106	T	0.35	-12.7011	15.9892	0.80188	0.0:0.1352:0.8648:0.0	.	525	Q7Z304	MAMC2_HUMAN	Q	525	ENSP00000366387:R525Q	ENSP00000366387:R525Q	R	+	2	0	MAMDC2	71975290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.458000	0.66679	1.297000	0.44761	0.491000	0.48974	CGG	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052600.1		+	ENST00000377182.4	Missense_Mutation	SNP	9 : 72785470 - 72785470 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	381	6
MAP2K6	5608	broad.mit.edu	37	17	67519707	67519707	+	Nonsense_Mutation	SNP	C	C	A	rs143627401		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:67519707C>A	ENST00000590474.1	+	8	875	c.588C>A	c.(586-588)tgC>tgA	p.C196*	MAP2K6_ENST00000589647.1_Nonsense_Mutation_p.C140*	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	196	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TGAAGATGTGCGATTTTGGAA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													332	294	307			NA	NA	17		NA											NA				67519707		2203	4300	6503	SO:0001587	stop_gained			U39064	CCDS11686.1	17q	2011-06-09					5608	5608		Mitogen-activated protein kinase cascade / Kinase kinases	6846	protein-coding gene	gene with protein product	protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)	601254		PRKMK6	NA	8621675	Standard	NM_002758	XM_005257515	NA	Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.588C>A	17.37:g.67519707C>A	ENSP00000468348:p.Cys196*	NA		37	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	C	37	6.576599	0.97676	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.73	-1.1	0.09872	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.3369	12.9116	0.58182	0.0:0.2066:0.0:0.7934	.	.	.	.	X	196	.	.	C	+	3	2	MAP2K6	65031302	0.881000	0.30235	0.989000	0.46669	0.998000	0.95712	-0.053000	0.11846	-0.502000	0.06596	0.655000	0.94253	TGC	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450689.1		+	ENST00000590474.1	Nonsense_Mutation	SNP	17 : 67519707 - 67519707 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	866	9
MLH3	27030	broad.mit.edu	37	14	75515338	75515338	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:75515338G>T	ENST00000238662.7	-	2	1236	c.1021C>A	c.(1021-1023)Cag>Aag	p.Q341K	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.Q341K|MLH3_ENST00000556257.1_Missense_Mutation_p.Q341K|MLH3_ENST00000355774.2_Missense_Mutation_p.Q341K	NM_014381.2	NP_055196.2	Q9UHC1	MLH3_HUMAN	mutL homolog 3	341					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ACTCCTTCCTGAATGCAAAAC	0.343		NA						Mismatch excision repair (MMR)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	67	67			NA	NA	14		NA											NA				75515338		2203	4299	6502	SO:0001583	missense			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684	27030	27030			7128	protein-coding gene	gene with protein product		604395	mutL (E. coli) homolog 3, mutL homolog 3 (E. coli)		NA	10615123	Standard	NM_014381	XR_245681	NA	Approved		uc001xrd.1	Q9UHC1		ENST00000238662.7:c.1021C>A	14.37:g.75515338G>T	ENSP00000238662:p.Gln341Lys	NA	P49751|Q56DK9|Q9P292|Q9UHC0	37	CCDS9837.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552631	0.45487	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.75	4.81	0.61882	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, C-terminal (1);	0.054424	0.64402	D	0.000001	D	0.85173	0.5636	L	0.52126	1.63	0.80722	D	1	D;D	0.56287	0.975;0.973	P;P	0.55749	0.573;0.783	D	0.85052	0.0929	10	0.49607	T	0.09	-8.2283	13.6674	0.62405	0.0:0.3268:0.6732:0.0	.	341;341	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	K	341	ENSP00000348020:Q341K;ENSP00000238662:Q341K;ENSP00000451540:Q341K;ENSP00000452316:Q341K	ENSP00000238662:Q341K	Q	-	1	0	MLH3	74585091	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.724000	0.74747	2.716000	0.92895	0.655000	0.94253	CAG	MLH3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415002.1		-	ENST00000238662.7	Missense_Mutation	SNP	14 : 75515338 - 75515338 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	632	12
MOB3A	126308	broad.mit.edu	37	19	2076887	2076887	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:2076887C>T	ENST00000357066.3	-	4	926	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	MOB3A_ENST00000592143.1_Intron|MOB3A_ENST00000592280.1_Missense_Mutation_p.V183M	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN	MOB kinase activator 3A	183						intracellular	metal ion binding				NA						CAGGTGTTCACGTGGGCCTCG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	72	77			NA	NA	19		NA											NA				2076887		2203	4300	6503	SO:0001583	missense			AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081	126308	126308		MOB kinase activators	29802	protein-coding gene	gene with protein product	MOB LAK		MOB1, Mps One Binder kinase activator-like 2A (yeast)	MOBKL2A	NA	12477932	Standard	NM_130807	NM_130807	NA	Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.547G>A	19.37:g.2076887C>T	ENSP00000349575:p.Val183Met	NA	B3KTF1|O75249|Q8TF69	37	CCDS12081.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421174	0.83559	.	.	ENSG00000172081	ENST00000357066	.	.	.	3.74	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.78470	0.4288	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.82125	-0.0612	9	0.62326	D	0.03	-49.6356	14.2648	0.66110	0.0:1.0:0.0:0.0	.	183	Q96BX8	MOB3A_HUMAN	M	183	.	ENSP00000349575:V183M	V	-	1	0	MOBKL2A	2027887	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.596000	0.67570	1.937000	0.56155	0.491000	0.48974	GTG	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450893.1		-	ENST00000357066.3	Missense_Mutation	SNP	19 : 2076887 - 2076887 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	224	17
MPP3	4356	broad.mit.edu	37	17	41886383	41886383	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:41886383G>T	ENST00000398393.1	-	17	1857	c.1597C>A	c.(1597-1599)Cag>Aag	p.Q533K	MPP3_ENST00000398389.4_Missense_Mutation_p.Q508K			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	508	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CTTTTTTCCTGAATTGCAGGC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	129	130			NA	NA	17		NA											NA				41886383		1813	4072	5885	SO:0001583	missense				CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647	4356	4356			7221	protein-coding gene	gene with protein product	MAGUK p55 subfamily member 3, discs, large (Drosophila) homolog 3, membrane protein palmitoylated 3	601114		DLG3	NA	8824795	Standard	NM_001932	NR_003562	NA	Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398393.1:c.1597C>A	17.37:g.41886383G>T	ENSP00000381430:p.Gln533Lys	NA	B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	37		.	.	.	.	.	.	.	.	.	.	G	8.912	0.959001	0.18507	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.15603	2.41;2.41	5.36	5.36	0.76844	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.278923	0.35291	N	0.003309	T	0.10937	0.0267	N	0.12471	0.22	0.29701	N	0.840156	B;B	0.18741	0.03;0.03	B;B	0.29440	0.071;0.102	T	0.13737	-1.0498	10	0.25751	T	0.34	.	11.4234	0.49996	0.0828:0.0:0.9172:0.0	.	508;533	Q13368;D3DX46	MPP3_HUMAN;.	K	533;508	ENSP00000381430:Q533K;ENSP00000381425:Q508K	ENSP00000381425:Q508K	Q	-	1	0	MPP3	39241909	0.999000	0.42202	0.988000	0.46212	0.988000	0.76386	3.512000	0.53407	2.782000	0.95742	0.655000	0.94253	CAG	MPP3-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000258372.1		-	ENST00000398393.1	Missense_Mutation	SNP	17 : 41886383 - 41886383 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	623	15
MRPL3	11222	broad.mit.edu	37	3	131219286	131219286	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:131219286G>T	ENST00000425847.2	-	4	599	c.438C>A	c.(436-438)gtC>gtA	p.V146V	MRPL3_ENST00000264995.3_Silent_p.V119V|MRPL3_ENST00000506946.1_5'UTR			P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	119					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GAAGTAATGTGACCACATGCT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	121	133			NA	NA	3		NA											NA				131219286		2203	4300	6503	SO:0001819	synonymous_variant			X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686	11222	11222		Mitochondrial ribosomal proteins / large subunits	10379	protein-coding gene	gene with protein product		607118		RPML3	NA	2891103	Standard	NM_007208	NM_007208	NA	Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000425847.2:c.438C>A	3.37:g.131219286G>T		NA	Q6IBT2	37		.	.	.	.	.	.	.	.	.	.	G	3.702	-0.061285	0.07317	.	.	ENSG00000114686	ENST00000511168	.	.	.	5.62	4.73	0.59995	.	.	.	.	.	T	0.71099	0.3300	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70498	-0.4855	4	.	.	.	-2.7541	15.3528	0.74402	0.0:0.1405:0.8595:0.0	.	.	.	.	N	134	.	.	H	-	1	0	MRPL3	132701976	1.000000	0.71417	0.999000	0.59377	0.354000	0.29330	4.626000	0.61269	1.340000	0.45581	0.555000	0.69702	CAC	MRPL3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356535.1		-	ENST00000425847.2	Silent	SNP	3 : 131219286 - 131219286 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	916	21
MYBL2	4605	broad.mit.edu	37	20	42338663	42338663	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr20:42338663C>A	ENST00000217026.4	+	10	1693	c.1566C>A	c.(1564-1566)ttC>ttA	p.F522L	MYBL2_ENST00000396863.4_Missense_Mutation_p.F498L	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	522						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAACCCCGTTCAAGAACGCCC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	187	187			NA	NA	20		NA											NA				42338663		2203	4300	6503	SO:0001583	missense				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057	4605	4605			7548	protein-coding gene	gene with protein product		601415			NA	8812502	Standard	NM_002466	NM_002466	NA	Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1566C>A	20.37:g.42338663C>A	ENSP00000217026:p.Phe522Leu	NA	B2RBS5	37	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803233	0.70682	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.61274	0.12;0.12	4.86	3.92	0.45320	C-myb, C-terminal (1);	0.055487	0.85682	D	0.000000	T	0.74114	0.3674	M	0.84082	2.675	0.58432	D	0.999991	P;D	0.76494	0.7;0.999	B;D	0.79108	0.372;0.992	T	0.75783	-0.3196	10	0.62326	D	0.03	-25.04	8.884	0.35392	0.0:0.8249:0.0:0.1751	.	498;522	F8W6N6;P10244	.;MYBB_HUMAN	L	498;522	ENSP00000380072:F498L;ENSP00000217026:F522L	ENSP00000217026:F522L	F	+	3	2	MYBL2	41772077	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	1.304000	0.33482	1.197000	0.43143	0.467000	0.42956	TTC	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080408.1		+	ENST00000217026.4	Missense_Mutation	SNP	20 : 42338663 - 42338663 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	863	15
MYH7	4625	broad.mit.edu	37	14	23898270	23898270	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:23898270C>T	ENST00000355349.3	-	14	1463	c.1301G>A	c.(1300-1302)aGg>aAg	p.R434K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	434	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGAACATCCTCTCATACAC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	127	133			NA	NA	14		NA											NA				23898270		2203	4300	6503	SO:0001583	missense			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054	4625	4625		Myosins / Myosin superfamily : Class II	7577	protein-coding gene	gene with protein product		160760	myopathy, distal 1, myosin, heavy polypeptide 7, cardiac muscle, beta	CMH1, MPD1	NA	2494889, 8483915, 15322983	Standard	NM_000257	XM_005267696	NA	Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1301G>A	14.37:g.23898270C>T	ENSP00000347507:p.Arg434Lys	NA	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	c	1.349	-0.591893	0.03799	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88664	-2.41	4.18	-2.61	0.06171	Myosin head, motor domain (2);	.	.	.	.	T	0.78419	0.4280	N	0.25825	0.765	0.21782	N	0.999541	B	0.02656	0.0	B	0.01281	0.0	T	0.59440	-0.7454	9	0.10902	T	0.67	.	11.4013	0.49873	0.0:0.3619:0.0:0.6381	.	434	P12883	MYH7_HUMAN	K	434	ENSP00000347507:R434K	ENSP00000347507:R434K	R	-	2	0	MYH7	22968110	0.983000	0.35010	0.980000	0.43619	0.520000	0.34377	0.109000	0.15417	-0.725000	0.04901	-1.662000	0.00750	AGG	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071798.3		-	ENST00000355349.3	Missense_Mutation	SNP	14 : 23898270 - 23898270 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	414	6
NADSYN1	55191	broad.mit.edu	37	11	71189504	71189504	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:71189504C>A	ENST00000319023.2	+	10	1050	c.862C>A	c.(862-864)Cga>Aga	p.R288R	NADSYN1_ENST00000539574.1_Silent_p.R28R	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	288	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GATTTCATCTCGAAACCTGGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(79;763 1781 6490 50276)							NA				0													48	44	45			NA	NA	11		NA											NA				71189504		2200	4294	6494	SO:0001819	synonymous_variant			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890	55191	55191			29832	protein-coding gene	gene with protein product		608285			NA	12547821	Standard	NM_018161	NM_018161	NA	Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.862C>A	11.37:g.71189504C>A		NA	Q86SN2|Q9HA25|Q9NVM8	37	CCDS8201.1																																																																																			NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394356.1		+	ENST00000319023.2	Silent	SNP	11 : 71189504 - 71189504 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	61	5
NLGN1	22871	broad.mit.edu	37	3	173998609	173998609	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:173998609G>A	ENST00000457714.1	+	7	2417	c.1988G>A	c.(1987-1989)aGt>aAt	p.S663N	NLGN1_ENST00000361589.4_Missense_Mutation_p.S663N|NLGN1_ENST00000545397.1_Missense_Mutation_p.S663N|NLGN1_ENST00000401917.3_Missense_Mutation_p.S703N	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	680					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAACAACCAAGTCCATTTTCA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	110	109			NA	NA	3		NA											NA				173998609		2203	4300	6503	SO:0001583	missense			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760	22871	22871			14291	protein-coding gene	gene with protein product		600568			NA	10767552, 10819331	Standard	NM_014932	NM_014932	NA	Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1988G>A	3.37:g.173998609G>A	ENSP00000392500:p.Ser663Asn	NA	Q9UPT2	37	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	9.582	1.123955	0.20959	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	N	0.24115	0.695	0.44694	D	0.997688	B	0.06786	0.001	B	0.06405	0.002	T	0.39482	-0.9612	10	0.21014	T	0.42	.	19.9651	0.97262	0.0:0.0:1.0:0.0	.	663	Q8N2Q7-2	.	N	663;663;663;703	ENSP00000392500:S663N;ENSP00000354541:S663N;ENSP00000441108:S663N;ENSP00000385750:S703N	ENSP00000354541:S663N	S	+	2	0	NLGN1	175481303	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.166000	0.64965	2.793000	0.96121	0.655000	0.94253	AGT	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347054.3		+	ENST00000457714.1	Missense_Mutation	SNP	3 : 173998609 - 173998609 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	528	38
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18766145	18766145	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:18766145G>T	ENST00000532967.1	-	5	631	c.538C>A	c.(538-540)Ccc>Acc	p.P180T	NT5C1B_ENST00000600945.1_Missense_Mutation_p.P180T|NT5C1B_ENST00000304081.4_Missense_Mutation_p.P120T|NT5C1B_ENST00000359846.2_Missense_Mutation_p.P180T	NM_001199104.1	NP_001186033.1	Q96P26	5NT1B_HUMAN	NT5C1B-RDH14 readthrough	180	Pro-rich.				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding				NA						GGCGACGCGGGTGGCTGGAGC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	17	15			NA	NA	2		NA											NA				18766145		2123	4096	6219	SO:0001583	missense				CCDS56111.1	2p24.2	2011-02-21			ENSG00000250741	ENSG00000250741	100526794	100526794			38831	other	readthrough					NA		Standard	NM_001199103.1	NM_001199103	NA	Approved		uc010exr.3		OTTHUMG00000161546	ENST00000532967.1:c.538C>A	2.37:g.18766145G>T	ENSP00000433415:p.Pro180Thr	NA	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	37	CCDS56111.1	.	.	.	.	.	.	.	.	.	.	G	6.708	0.499307	0.12762	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846;ENST00000416783	D	0.88741	-2.42	4.15	-7.42	0.01388	.	0.927161	0.08933	N	0.872669	T	0.69797	0.3151	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B;B;B;B	0.12630	0.001;0.006;0.002;0.001;0.001;0.003;0.006;0.003	B;B;B;B;B;B;B;B	0.10450	0.001;0.003;0.001;0.001;0.001;0.005;0.003;0.005	T	0.57329	-0.7830	10	0.31617	T	0.26	-32.7382	0.5312	0.00629	0.3185:0.1133:0.2234:0.3448	.	163;197;120;163;122;120;180;180	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	T	180;122;120;180;197	ENSP00000412639:P122T	ENSP00000305979:P120T	P	-	1	0	NT5C1B-RDH14;NT5C1B	18629626	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.508000	0.06344	-1.893000	0.01106	-1.119000	0.02030	CCC	NT5C1B-RDH14-002	KNOWN	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323823.1		-	ENST00000532967.1	Missense_Mutation	SNP	2 : 18766145 - 18766145 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	105	10
OBSCN	84033	broad.mit.edu	37	1	228432014	228432014	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:228432014G>T	ENST00000570156.2	+	12	3573	c.3499G>T	c.(3499-3501)Gca>Tca	p.A1167S	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1075S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1075S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	105	Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GATGATGTTTGCAAAGGAGCA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	93	94			NA	NA	1		NA											NA				228432014		2033	4185	6218	SO:0001583	missense			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.3499G>T	1.37:g.228432014G>T	ENSP00000455507:p.Ala1167Ser	NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1	.	.	.	.	.	.	.	.	.	.	.	2.395	-0.338872	0.05243	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.04551	3.6;3.6	3.69	2.78	0.32641	Immunoglobulin-like (1);	0.317255	0.27060	N	0.021125	T	0.04363	0.0120	L	0.39147	1.195	0.80722	D	1	P;B	0.37985	0.613;0.169	B;B	0.41466	0.358;0.049	T	0.40664	-0.9551	10	0.06891	T	0.86	.	6.4866	0.22093	0.3275:0.0:0.6725:0.0	.	1075;1075	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	S	1075	ENSP00000284548:A1075S;ENSP00000409493:A1075S	ENSP00000284548:A1075S	A	+	1	0	OBSCN	226498637	0.000000	0.05858	0.991000	0.47740	0.025000	0.11179	-0.621000	0.05559	0.757000	0.33036	0.455000	0.32223	GCA	OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Missense_Mutation	SNP	1 : 228432014 - 228432014 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	592	52
OBSL1	23363	broad.mit.edu	37	2	220421218	220421218	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:220421218G>A	ENST00000404537.1	-	13	4350	c.4294C>T	c.(4294-4296)Cgg>Tgg	p.R1432W	OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1340W|OBSL1_ENST00000603926.1_Missense_Mutation_p.R1432W|OBSL1_ENST00000265317.5_Missense_Mutation_p.R331W	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1432	Ig-like 12.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				NA		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CTCCCTGCCCGCAAAGTCACG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	99	97			NA	NA	2		NA											NA				220421218		2060	4187	6247	SO:0001583	missense			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006	23363	23363		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	29092	protein-coding gene	gene with protein product		610991			NA	9734811	Standard		NM_015311	NA	Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4294C>T	2.37:g.220421218G>A	ENSP00000385636:p.Arg1432Trp	NA	A4KVA5|Q96IW3	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.807786	0.31961	.	.	ENSG00000124006	ENST00000404537;ENST00000373876;ENST00000265317	T;T;T	0.68624	-0.34;3.52;3.52	4.51	4.51	0.55191	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79269	0.4417	M	0.79926	2.475	0.09310	N	0.999997	D;D;D;D	0.89917	1.0;0.998;0.999;1.0	D;P;D;D	0.76071	0.987;0.849;0.932;0.953	T	0.69109	-0.5232	9	0.66056	D	0.02	.	5.8434	0.18647	0.0932:0.0:0.5879:0.3188	.	239;1433;1432;331	B7Z5P5;A4KVA4;O75147;E7ER99	.;.;OBSL1_HUMAN;.	W	1432;1340;331	ENSP00000385636:R1432W;ENSP00000362983:R1340W;ENSP00000265317:R331W	ENSP00000265317:R331W	R	-	1	2	OBSL1	220129462	0.925000	0.31364	0.018000	0.16275	0.049000	0.14656	1.813000	0.38962	2.347000	0.79759	0.491000	0.48974	CGG	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322012.1		-	ENST00000404537.1	Missense_Mutation	SNP	2 : 220421218 - 220421218 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	651	8
OR2M2	391194	broad.mit.edu	37	1	248344093	248344093	+	Missense_Mutation	SNP	C	C	T	rs149761766		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:248344093C>T	ENST00000359682.2	+	1	806	c.806C>T	c.(805-807)aCg>aTg	p.T269M		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CACTCCCCAACGCAGGACAAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	MET/THR	0,4406		0,0,2203	212	189	197		806	-4.1	0	1	dbSNP_134	197	1,8599	819.2+/-406.8	0,1,4299	no	missense	OR2M2	NM_001004688.1	81	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	269/348	248344093	1,13005	2203	4300	6503	SO:0001583	missense			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601	391194	391194		GPCR / Class A : Olfactory receptors	8268	protein-coding gene	gene with protein product					NA	12213199	Standard	NM_001004688	NM_001004688	NA	Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.806C>T	1.37:g.248344093C>T	ENSP00000352710:p.Thr269Met	NA	A3KFT4	37	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	t	1.263	-0.615211	0.03663	0.0	1.16E-4	ENSG00000198601	ENST00000359682	T	0.00123	8.7	2.03	-4.06	0.03986	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	M	0.70275	2.135	0.09310	N	1	B	0.28439	0.212	B	0.29598	0.104	T	0.38178	-0.9673	9	0.51188	T	0.08	.	10.6476	0.45630	0.2235:0.6609:0.0:0.1157	.	269	Q96R28	OR2M2_HUMAN	M	269	ENSP00000352710:T269M	ENSP00000352710:T269M	T	+	2	0	OR2M2	246410716	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.426000	0.00036	-3.968000	0.00086	-3.185000	0.00055	ACG	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097356.2		+	ENST00000359682.2	Missense_Mutation	SNP	1 : 248344093 - 248344093 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	1135	190
OR2T4	127074	broad.mit.edu	37	1	248524891	248524891	+	Silent	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:248524891C>T	ENST00000366475.1	+	1	9	c.9C>T	c.(7-9)aaC>aaT	p.N3N		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATGGACAACATCACCTGGA	0.468		NA											C	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0	EXOME	NA	NA	3e-04	SNP								NA				0													71	68	69			NA	NA	1		NA											NA				248524891		2203	4300	6503	SO:0001819	synonymous_variant			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944	127074	127074		GPCR / Class A : Olfactory receptors	15016	protein-coding gene	gene with protein product					NA		Standard	NM_001004696	NM_001004696	NA	Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.9C>T	1.37:g.248524891C>T		NA	Q6IEZ8	37	CCDS31113.1																																																																																			OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097349.2		+	ENST00000366475.1	Silent	SNP	1 : 248524891 - 248524891 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	386	47
OTOGL	283310	broad.mit.edu	37	12	80749714	80749714	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:80749714C>A	ENST00000547103.1	+	46	5735	c.5729C>A	c.(5728-5730)tCa>tAa	p.S1910*	OTOGL_ENST00000458043.2_Nonsense_Mutation_p.S1922*					otogelin-like	NA										breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACCTGCTGTTCAAAGGAAGTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													225	208	213			NA	NA	12		NA											NA				80749714		1892	4133	6025	SO:0001587	stop_gained			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.5729C>A	12.37:g.80749714C>A	ENSP00000447211:p.Ser1910*	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	47|47	13.174025|13.174025	0.99725|0.99725	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000298820|ENST00000547103;ENST00000458043	.|.	.|.	.|.	5.18|5.18	4.28|4.28	0.50868|0.50868	.|.	.|.	.|.	.|.	.|.	T|.	0.62575|.	0.2439|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69499|.	-0.5129|.	3|.	.|.	.|.	.|.	.|.	13.1075|13.1075	0.59255|0.59255	0.0:0.9231:0.0:0.0768|0.0:0.9231:0.0:0.0768	.|.	.|.	.|.	.|.	K|X	365|1910;1922	.|.	.|.	Q|S	+|+	1|2	0|0	OTOGL|OTOGL	79273845|79273845	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.818000|0.818000	0.46254|0.46254	2.234000|2.234000	0.43035|0.43035	2.417000|2.417000	0.82017|0.82017	0.591000|0.591000	0.81541|0.81541	CAA|TCA	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000407438.1		+	ENST00000547103.1	Nonsense_Mutation	SNP	12 : 80749714 - 80749714 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	784	17
OXCT1	5019	broad.mit.edu	37	5	41840613	41840613	+	Splice_Site	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:41840613C>A	ENST00000196371.5	-	7	832	c.672G>T	c.(670-672)agG>agT	p.R224S	OXCT1_ENST00000509987.1_Splice_Site_p.R38S	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	224					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TTGCACTTTTCCTACAGGGGT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	107	104			NA	NA	5		NA											NA				41840613		2203	4300	6503	SO:0001630	splice_region_variant			U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720	5019	5019			8527	protein-coding gene	gene with protein product		601424	3-oxoacid CoA transferase	OXCT	NA	8751852	Standard	NM_000436	NM_000436	NA	Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.672-1G>T	5.37:g.41840613C>A		NA		37	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461521	0.63513	.	.	ENSG00000083720	ENST00000196371;ENST00000546045;ENST00000509987	D;D	0.88354	-2.37;-2.37	5.98	5.98	0.97165	3-oxoacid CoA-transferase, subunit A (1);	0.137880	0.64402	D	0.000003	D	0.94401	0.8199	M	0.85373	2.75	0.52099	D	0.999947	D	0.76494	0.999	D	0.69479	0.964	D	0.94619	0.7811	10	0.87932	D	0	.	13.6254	0.62161	0.0:0.9297:0.0:0.0702	.	224	P55809	SCOT1_HUMAN	S	224;136;38	ENSP00000196371:R224S;ENSP00000425348:R38S	ENSP00000196371:R224S	R	-	3	2	OXCT1	41876370	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	3.218000	0.51192	2.835000	0.97688	0.650000	0.86243	AGG	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211594.2	Missense_Mutation	-	ENST00000196371.5	Splice_Site	SNP	5 : 41840613 - 41840613 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	692	9
PAQR9	344838	broad.mit.edu	37	3	142681266	142681266	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:142681266C>A	ENST00000340634.3	-	1	912	c.913G>T	c.(913-915)Gac>Tac	p.D305Y		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	305						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CCGATAATGTCGAAAAGACCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	68	67			NA	NA	3		NA											NA				142681266		2203	4300	6503	SO:0001583	missense			AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582	344838	344838			30131	protein-coding gene	gene with protein product		614580			NA		Standard	NM_198504	NM_198504	NA	Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.913G>T	3.37:g.142681266C>A	ENSP00000341564:p.Asp305Tyr	NA	Q147T6	37	CCDS3128.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.51|18.51	3.639348|3.639348	0.67244|0.67244	.|.	.|.	ENSG00000188582|ENSG00000188582	ENST00000340634|ENST00000492509	T|.	0.38887|.	1.11|.	5.62|5.62	3.73|3.73	0.42828|0.42828	.|.	0.060822|.	0.64402|.	D|.	0.000005|.	T|T	0.73241|0.73241	0.3562|0.3562	M|M	0.81239|0.81239	2.535|2.535	0.51012|0.51012	D|D	0.999907|0.999907	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.74654|0.74654	-0.3593|-0.3593	10|5	0.87932|.	D|.	0|.	-44.4143|-44.4143	11.0086|11.0086	0.47649|0.47649	0.0:0.8011:0.1293:0.0696|0.0:0.8011:0.1293:0.0696	.|.	305|.	Q6ZVX9|.	PAQR9_HUMAN|.	Y|L	305|45	ENSP00000341564:D305Y|.	ENSP00000341564:D305Y|.	D|R	-|-	1|2	0|0	PAQR9|PAQR9	144163956|144163956	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.979000|0.979000	0.70002|0.70002	3.966000|3.966000	0.56795|0.56795	1.381000|1.381000	0.46364|0.46364	0.650000|0.650000	0.86243|0.86243	GAC|CGA	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354538.1		-	ENST00000340634.3	Missense_Mutation	SNP	3 : 142681266 - 142681266 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	353	19
PCDHA11	56138	broad.mit.edu	37	5	140250312	140250312	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:140250312C>T	ENST00000398640.2	+	1	1624	c.1624C>T	c.(1624-1626)Ccg>Tcg	p.P542S	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1			protocadherin alpha 11	NA										breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCGTGCCGCCTCTGAG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	81	78			NA	NA	5		NA											NA				140250312		2202	4298	6500	SO:0001583	missense			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158	56138	56138		Cadherins / Protocadherins : Clustered	8665	other	complex locus constituent	KIAA0345-like 3, ortholog of mouse CNR7	606317		CNRS7	NA	10380929, 10662547	Standard	NM_018902	NM_018902	NA	Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1624C>T	5.37:g.140250312C>T	ENSP00000381636:p.Pro542Ser	NA		37	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788483	0.70337	.	.	ENSG00000249158	ENST00000398640	T	0.56776	0.44	5.15	5.15	0.70609	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78698	0.4324	M	0.92026	3.265	0.35643	D	0.811176	D;D	0.89917	1.0;1.0	D;D	0.71414	0.969;0.973	D	0.87476	0.2417	9	0.87932	D	0	.	18.2779	0.90089	0.0:1.0:0.0:0.0	.	542;542	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	S	542	ENSP00000381636:P542S	ENSP00000381636:P542S	P	+	1	0	PCDHA11	140230496	0.999000	0.42202	0.994000	0.49952	0.949000	0.60115	5.585000	0.67497	2.398000	0.81561	0.556000	0.70494	CCG	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372885.2		+	ENST00000398640.2	Missense_Mutation	SNP	5 : 140250312 - 140250312 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	727	7
PDZRN3	23024	broad.mit.edu	37	3	73432928	73432928	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:73432928G>A	ENST00000479530.1	-	8	2136	c.1940C>T	c.(1939-1941)aCg>aTg	p.T647M	PDZRN3_ENST00000466780.1_Missense_Mutation_p.T587M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T652M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T587M|PDZRN3_ENST00000263666.4_Missense_Mutation_p.T930M			Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	930							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GATGTAGCGCGTCCCGTCGCT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	35	35			NA	NA	3		NA											NA				73432928		2203	4300	6503	SO:0001583	missense			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440	23024	23024		RING-type (C3HC4) zinc fingers	17704	protein-coding gene	gene with protein product	likely ortholog of mouse semaF cytoplasmic domain associated protein 3	609729			NA	10470851	Standard	XM_041363	XM_005264718	NA	Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000479530.1:c.1940C>T	3.37:g.73432928G>A	ENSP00000418624:p.Thr647Met	NA	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.162279|4.162279	0.78226|0.78226	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	.|T;T;T;T;T	.|0.45276	.|0.9;0.9;0.9;0.9;0.9	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.150407	.|0.64402	.|D	.|0.000015	T|T	0.68274|0.68274	0.2983|0.2983	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;P;D;D	.|0.75484	.|0.986;0.874;0.957;0.911	T|T	0.72717|0.72717	-0.4209|-0.4209	5|10	.|0.87932	.|D	.|0	.|.	18.7949|18.7949	0.91990|0.91990	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|652;647;647;930	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	C|M	246|930;652;587;587;647	.|ENSP00000263666:T930M;ENSP00000442026:T652M;ENSP00000418168:T587M;ENSP00000418484:T587M;ENSP00000418624:T647M	.|ENSP00000263666:T930M	R|T	-|-	1|2	0|0	PDZRN3|PDZRN3	73515618|73515618	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.915000|0.915000	0.54546|0.54546	7.532000|7.532000	0.81985|0.81985	2.522000|2.522000	0.85027|0.85027	0.655000|0.655000	0.94253|0.94253	CGC|ACG	PDZRN3-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000352465.1		-	ENST00000479530.1	Missense_Mutation	SNP	3 : 73432928 - 73432928 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	262	36
PER3	8863	broad.mit.edu	37	1	7887545	7887545	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:7887545G>T	ENST00000377532.3	+	17	2780	c.2556G>T	c.(2554-2556)ttG>ttT	p.L852F	PER3_ENST00000361923.2_Missense_Mutation_p.L844F			P56645	PER3_HUMAN	period circadian clock 3	844	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.L844F(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCTTACTTGGATACTTTTA	0.567		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)											174	170	171			NA	NA	1		NA											NA				7887545		2203	4300	6503	SO:0001583	missense			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246	8863	8863			8847	protein-coding gene	gene with protein product		603427	period (Drosophila) homolog 3, period homolog 3 (Drosophila)		NA	9427249	Standard	NM_016831	XM_005263520	NA	Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000377532.3:c.2556G>T	1.37:g.7887545G>T	ENSP00000366755:p.Leu852Phe	NA	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	37		.	.	.	.	.	.	.	.	.	.	G	12.99	2.104242	0.37145	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.10668	2.85;2.85	4.2	1.02	0.19986	.	2.753630	0.02126	N	0.056017	T	0.11196	0.0273	L	0.41492	1.28	0.09310	N	1	B;B;B;B	0.19583	0.037;0.021;0.036;0.037	B;B;B;B	0.19391	0.008;0.011;0.025;0.008	T	0.31223	-0.9951	10	0.36615	T	0.2	.	6.0045	0.19539	0.2296:0.1546:0.6158:0.0	.	844;852;852;844	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	F	852;844;55	ENSP00000366755:L852F;ENSP00000355031:L844F	ENSP00000355031:L844F	L	+	3	2	PER3	7810132	0.000000	0.05858	0.000000	0.03702	0.285000	0.27093	0.087000	0.14958	0.021000	0.15133	0.555000	0.69702	TTG	PER3-001	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000003606.1		+	ENST00000377532.3	Missense_Mutation	SNP	1 : 7887545 - 7887545 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	937	13
PPFIA1	8500	broad.mit.edu	37	11	70172768	70172768	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:70172768C>A	ENST00000253925.7	+	7	989	c.774C>A	c.(772-774)atC>atA	p.I258I	CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.I258I	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	258					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCCAAGAAATCATAAGTAAGC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	201	197			NA	NA	11		NA											NA				70172768		2200	4294	6494	SO:0001819	synonymous_variant			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626	8500	8500		Sterile alpha motif (SAM) domain containing	9245	protein-coding gene	gene with protein product	Liprin-alpha1	611054			NA	7796809, 9624153	Standard	NM_003626	NM_003626	NA	Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.774C>A	11.37:g.70172768C>A		NA	A6NLE3|Q13135|Q14567|Q8N4I2	37	CCDS31627.1																																																																																			PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393905.1		+	ENST00000253925.7	Silent	SNP	11 : 70172768 - 70172768 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	1323	28
PRDM5	11107	broad.mit.edu	37	4	121739540	121739540	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:121739540C>A	ENST00000264808.3	-	5	858	c.618G>T	c.(616-618)aaG>aaT	p.K206N	PRDM5_ENST00000515109.1_Missense_Mutation_p.K206N|PRDM5_ENST00000428209.2_Missense_Mutation_p.K206N	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	206					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGGGAATTTCTTCCCACAGT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	86	88			NA	NA	4		NA											NA				121739540		2203	4300	6503	SO:0001583	missense			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738	11107	11107		Zinc fingers, C2H2-type	9349	protein-coding gene	gene with protein product		614161			NA		Standard		XM_005262706	NA	Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.618G>T	4.37:g.121739540C>A	ENSP00000264808:p.Lys206Asn	NA	Q0VAJ0|Q6NXQ7	37	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358729	0.82243	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.61158	0.13;0.13;0.13	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79257	0.4415	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.82165	-0.0592	10	0.72032	D	0.01	-32.109	19.0126	0.92879	0.0:1.0:0.0:0.0	.	206;206;206	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	N	206	ENSP00000264808:K206N;ENSP00000422309:K206N;ENSP00000404832:K206N	ENSP00000264808:K206N	K	-	3	2	PRDM5	121958990	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.395000	0.59678	2.498000	0.84270	0.555000	0.69702	AAG	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256528.2		-	ENST00000264808.3	Missense_Mutation	SNP	4 : 121739540 - 121739540 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	675	82
PROZ	8858	broad.mit.edu	37	13	113826319	113826319	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:113826319C>T	ENST00000342783.4	+	9	1176	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	PROZ_ENST00000375547.2_Missense_Mutation_p.T368M	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	368	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	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_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TGGTTTCTCACGGGGGTCCTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	34	35			NA	NA	13		NA											NA				113826319		2203	4298	6501	SO:0001583	missense			M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231	8858	8858			9460	protein-coding gene	gene with protein product		176895			NA	2244898, 2403355	Standard	NM_003891	NM_001256134	NA	Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000342783.4:c.1169C>T	13.37:g.113826319C>T	ENSP00000344458:p.Thr390Met	NA	A6NMB4|Q15213|Q5JVF5|Q5JVF6	37	CCDS58300.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282979	0.23392	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.89050	-2.46;-2.46	3.96	2.78	0.32641	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.303944	0.34986	N	0.003522	D	0.91720	0.7382	M	0.68593	2.085	0.39311	D	0.965077	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.91267	0.5041	10	0.87932	D	0	.	6.4669	0.21987	0.0:0.6801:0.1745:0.1454	.	390;368	P22891-2;P22891	.;PROZ_HUMAN	M	368;390	ENSP00000364697:T368M;ENSP00000344458:T390M	ENSP00000344458:T390M	T	+	2	0	PROZ	112874320	0.916000	0.31088	0.503000	0.27626	0.030000	0.12068	1.723000	0.38053	1.891000	0.54761	0.313000	0.20887	ACG	PROZ-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045846.1		+	ENST00000342783.4	Missense_Mutation	SNP	13 : 113826319 - 113826319 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	326	62
PSMD1	5707	broad.mit.edu	37	2	231937111	231937111	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:231937111C>A	ENST00000308696.6	+	7	1025	c.863C>A	c.(862-864)cCg>cAg	p.P288Q	PSMD1_ENST00000373635.4_Missense_Mutation_p.P288Q|PSMD1_ENST00000409643.1_Missense_Mutation_p.P288Q	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	288					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.P288Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GGTACTGTTCCGGGATCAGAG	0.403		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)											111	115	113			NA	NA	2		NA											NA				231937111		2203	4300	6503	SO:0001583	missense			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692	5707	5707		Proteasome (prosome, macropain) subunits	9554	protein-coding gene	gene with protein product					NA	8816993	Standard		NM_002807	NA	Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.863C>A	2.37:g.231937111C>A	ENSP00000309474:p.Pro288Gln	NA	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	37	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655523	0.88056	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.98	5.98	0.97165	Armadillo-type fold (1);	0.140827	0.64402	D	0.000003	T	0.59824	0.2222	L	0.48986	1.54	0.80722	D	1	B;B	0.28178	0.002;0.202	B;B	0.30251	0.006;0.113	T	0.53995	-0.8359	9	0.15952	T	0.53	-2.5112	20.4581	0.99154	0.0:1.0:0.0:0.0	.	288;288	Q99460;Q99460-2	PSMD1_HUMAN;.	Q	288	.	ENSP00000309474:P288Q	P	+	2	0	PSMD1	231645355	1.000000	0.71417	0.997000	0.53966	0.869000	0.49853	7.818000	0.86416	2.835000	0.97688	0.650000	0.86243	CCG	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256958.2		+	ENST00000308696.6	Missense_Mutation	SNP	2 : 231937111 - 231937111 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	762	10
PUS1	80324	broad.mit.edu	37	12	132426520	132426520	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:132426520G>A	ENST00000535067.1	+	3	519				PUS1_ENST00000542167.2_Missense_Mutation_p.G357S|PUS1_ENST00000376649.3_Missense_Mutation_p.G410S|PUS1_ENST00000440818.2_Missense_Mutation_p.G382S|PUS1_ENST00000443358.2_Missense_Mutation_p.G382S			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	NA						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		AGGTGGCACGGGCGCCAAGGT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(102;671 2009 17384 45666)							NA				0													21	16	18			NA	NA	12		NA											NA				132426520		2196	4280	6476	SO:0001627	intron_variant			AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192	80324	80324			15508	protein-coding gene	gene with protein product		608109			NA	10094309	Standard	NM_025215	NM_001002019	NA	Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000535067.1:c.358-1564G>A	12.37:g.132426520G>A		NA	A8K877|B3KQC1|Q8WYT2|Q9BU44	37		.	.	.	.	.	.	.	.	.	.	G	13.91	2.378889	0.42207	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167	T;T;T;T;T	0.54279	0.62;0.6;0.58;0.62;0.62	4.58	3.69	0.42338	.	0.639198	0.14819	N	0.296581	T	0.44265	0.1285	L	0.44542	1.39	0.09310	N	1	P;B	0.38078	0.617;0.005	B;B	0.37144	0.242;0.002	T	0.30416	-0.9979	10	0.49607	T	0.09	-10.2033	10.0242	0.42061	0.0981:0.0:0.9019:0.0	.	357;410	F5H1S9;Q9Y606	.;TRUA_HUMAN	S	382;410;382;382;357	ENSP00000392451:G382S;ENSP00000365837:G410S;ENSP00000324726:G382S;ENSP00000400032:G382S;ENSP00000438948:G357S	ENSP00000324726:G382S	G	+	1	0	PUS1	130992473	0.017000	0.18338	0.001000	0.08648	0.009000	0.06853	1.937000	0.40193	1.034000	0.39945	0.491000	0.48974	GGC	PUS1-010	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397786.1		+	ENST00000535067.1	Intron	SNP	12 : 132426520 - 132426520 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	88	8
PYHIN1	149628	broad.mit.edu	37	1	158908227	158908227	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:158908227C>A	ENST00000368140.1	+	3	551	c.306C>A	c.(304-306)atC>atA	p.I102I	PYHIN1_ENST00000368138.3_Silent_p.I93I|PYHIN1_ENST00000392252.3_Silent_p.I93I|PYHIN1_ENST00000368135.4_Silent_p.I102I|PYHIN1_ENST00000392254.2_Silent_p.I102I	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	102					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AAGGAATAATCCCATCTAAAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	110	112			NA	NA	1		NA											NA				158908227		2203	4300	6503	SO:0001819	synonymous_variant			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564	149628	149628			28894	protein-coding gene	gene with protein product		612677			NA	15122330	Standard	NM_152501	NM_152501	NA	Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.306C>A	1.37:g.158908227C>A		NA	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	37	CCDS1178.1																																																																																			PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090110.1		+	ENST00000368140.1	Silent	SNP	1 : 158908227 - 158908227 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	487	9
RABGAP1	23637	broad.mit.edu	37	9	125835869	125835869	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:125835869C>A	ENST00000373647.4	+	16	2156	c.2022C>A	c.(2020-2022)atC>atA	p.I674I	RABGAP1_ENST00000373643.5_Silent_p.I13I|RABGAP1_ENST00000493854.1_3'UTR	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	674	Rab-GAP TBC.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TGGTCAAGATCATGTTTGACT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	162	165			NA	NA	9		NA											NA				125835869		2203	4300	6503	SO:0001819	synonymous_variant			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454	23637	23637			17155	protein-coding gene	gene with protein product	rab6 GTPase activating protein (GAP and centrosome-associated), TBC1 domain family, member 11	615882			NA	10202141	Standard	NM_012197	NM_012197	NA	Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.2022C>A	9.37:g.125835869C>A		NA	Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	37	CCDS6848.2																																																																																			RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053976.3		+	ENST00000373647.4	Silent	SNP	9 : 125835869 - 125835869 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	982	18
RIMS2	9699	broad.mit.edu	37	8	105257203	105257203	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:105257203G>A	ENST00000436393.2	+	24	3689	c.3448G>A	c.(3448-3450)Gtg>Atg	p.V1150M	RIMS2_ENST00000339750.2_Missense_Mutation_p.V68M|RIMS2_ENST00000507740.1_Missense_Mutation_p.V946M|RIMS2_ENST00000406091.3_Missense_Mutation_p.V1132M|RIMS2_ENST00000262231.10_Missense_Mutation_p.V971M			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1194					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGGCCTGGCCGTGGAAATGAG	0.463		NA								HNSCC(12;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL,MET/VAL	0,4038		0,0,2019	129	136	133		2836,3394	5.1	1	8		133	1,8363		0,1,4181	no	missense,missense	RIMS2	NM_014677.4,NM_001100117.2	21,21	0,1,6200	AA,AG,GG	NA	0.012,0.0,0.0081	benign,benign	946/1164,1132/1350	105257203	1,12401	2019	4182	6201	SO:0001583	missense			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14			9699	9699			17283	protein-coding gene	gene with protein product		606630	RAB3 interacting protein 3	RAB3IP3	NA	9872452, 12578829	Standard	NM_001100117	NM_014677	NA	Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3448G>A	8.37:g.105257203G>A	ENSP00000390665:p.Val1150Met	NA	O43413|Q86XL9|Q8IWV9|Q8IWW1	37		.	.	.	.	.	.	.	.	.	.	G	16.59	3.166677	0.57476	0.0	1.2E-4	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.21361	2.58;2.28;2.27;2.03;2.48;2.02;2.01	5.05	5.05	0.67936	.	.	.	.	.	T	0.28797	0.0714	L	0.43152	1.355	0.58432	D	0.999996	D;P;D;B;B	0.56035	0.974;0.669;0.966;0.161;0.161	P;B;P;B;B	0.49047	0.499;0.032;0.599;0.024;0.024	T	0.01051	-1.1468	9	0.44086	T	0.13	.	18.5918	0.91215	0.0:0.0:1.0:0.0	.	1194;1150;971;946;1132	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	M	1169;1132;1194;971;946;1139;1150;68;68	ENSP00000384892:V1132M;ENSP00000262231:V971M;ENSP00000423559:V946M;ENSP00000386228:V1139M;ENSP00000390665:V1150M;ENSP00000428478:V68M;ENSP00000342051:V68M	ENSP00000262231:V971M	V	+	1	0	RIMS2	105326379	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.807000	0.86032	2.623000	0.88846	0.650000	0.86243	GTG	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367217.1		+	ENST00000436393.2	Missense_Mutation	SNP	8 : 105257203 - 105257203 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	837	122
RNF38	152006	broad.mit.edu	37	9	36339793	36339793	+	Missense_Mutation	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:36339793T>C	ENST00000259605.6	-	12	1611	c.1504A>G	c.(1504-1506)Att>Gtt	p.I502V	RNF38_ENST00000377885.2_Missense_Mutation_p.I419V|RNF38_ENST00000350199.4_Missense_Mutation_p.I419V|RNF38_ENST00000357058.3_Missense_Mutation_p.I419V|RNF38_ENST00000353739.4_Missense_Mutation_p.I452V|RNF38_ENST00000377877.4_Missense_Mutation_p.I426V	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	502							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GCTCGGCAAATTGGGCAAGTA	0.378		NA											T	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	5e-04	SNP								NA				0													107	81	90			NA	NA	9		NA											NA				36339793		2203	4300	6503	SO:0001583	missense				CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075	152006	152006		RING-type (C3HC4) zinc fingers	18052	protein-coding gene	gene with protein product		612488			NA		Standard	NM_022781	XM_005251364	NA	Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.1504A>G	9.37:g.36339793T>C	ENSP00000259605:p.Ile502Val	NA	A6PVP9|B1AM82|Q7LB33|Q8N0Y0	37	CCDS6603.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	14.75	2.629377	0.46944	.	.	ENSG00000137075	ENST00000259605;ENST00000353739;ENST00000377885;ENST00000357058;ENST00000350199;ENST00000377876;ENST00000377870;ENST00000377877	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	5.55	5.55	0.83447	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	N	0.03948	-0.315	0.80722	D	1	P;B;P	0.48911	0.917;0.124;0.904	D;B;D	0.64321	0.924;0.344;0.924	T	0.52275	-0.8597	10	0.48119	T	0.1	-7.5111	13.6403	0.62246	0.0:0.0:0.0:1.0	.	426;452;502	B1AM81;Q9H0F5-2;Q9H0F5	.;.;RNF38_HUMAN	V	502;452;419;419;419;319;426;426	ENSP00000259605:I502V;ENSP00000335239:I452V;ENSP00000367117:I419V;ENSP00000349566:I419V;ENSP00000343947:I419V;ENSP00000367109:I426V	ENSP00000259605:I502V	I	-	1	0	RNF38	36329793	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.381000	0.79718	2.096000	0.63516	0.533000	0.62120	ATT	RNF38-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052422.3		-	ENST00000259605.6	Missense_Mutation	SNP	9 : 36339793 - 36339793 C PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	328	59
SGCG	6445	broad.mit.edu	37	13	23869565	23869565	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:23869565G>A	ENST00000218867.3	+	6	641	c.517G>A	c.(517-519)Gct>Act	p.A173T	SGCG_ENST00000545013.1_Missense_Mutation_p.A173T|SGCG_ENST00000537476.1_Missense_Mutation_p.A173T	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	173					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GCCTGAAGGGGCTCTTTTTGA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	158	157			NA	NA	13		NA											NA				23869565		2203	4300	6503	SO:0001583	missense			U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683	6445	6445			10809	protein-coding gene	gene with protein product	Maghrebian myopathy (autosomal recessive), 35kD dystrophin-associated glycoprotein, limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive), gamma sarcoglycan	608896	sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)	DMDA1, MAM, LGMD2C	NA	8968757	Standard	NM_000231	NM_000231	NA	Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.517G>A	13.37:g.23869565G>A	ENSP00000218867:p.Ala173Thr	NA	Q32M32|Q5T9J6	37	CCDS9299.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182474	0.57800	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.95307	-3.67;-3.67;-3.67	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.96386	0.8821	M	0.75447	2.3	0.54753	D	0.999985	D	0.89917	1.0	D	0.91635	0.999	D	0.94976	0.8121	10	0.23891	T	0.37	-20.3547	13.2912	0.60272	0.0:0.0:1.0:0.0	.	173	Q13326	SGCG_HUMAN	T	173	ENSP00000218867:A173T;ENSP00000444100:A173T;ENSP00000442232:A173T	ENSP00000218867:A173T	A	+	1	0	SGCG	22767565	1.000000	0.71417	0.998000	0.56505	0.580000	0.36256	4.816000	0.62642	2.264000	0.75181	0.563000	0.77884	GCT	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044151.1		+	ENST00000218867.3	Missense_Mutation	SNP	13 : 23869565 - 23869565 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	1253	224
SLC22A12	116085	broad.mit.edu	37	11	64359303	64359303	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:64359303G>A	ENST00000377567.2	+	2	739	c.275G>A	c.(274-276)cGc>cAc	p.R92H	SLC22A12_ENST00000336464.7_Missense_Mutation_p.R92H|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R92H|SLC22A12_ENST00000377574.1_Missense_Mutation_p.R92H|SLC22A12_ENST00000473690.1_5'UTR			Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	92			R -> C.		cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CGCCGCTTCCGCCAGCCACAG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	28	26			NA	NA	11		NA											NA				64359303		2183	4271	6454	SO:0001583	missense			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891	116085	116085		Solute carriers	17989	protein-coding gene	gene with protein product		607096	solute carrier family 22 (organic anion/cation transporter), member 12		NA	12024214	Standard	NM_144585	NM_144585	NA	Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377567.2:c.275G>A	11.37:g.64359303G>A	ENSP00000366790:p.Arg92His	NA	B7WPG1|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	37		.	.	.	.	.	.	.	.	.	.	G	14.63	2.593237	0.46214	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000336464	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	4.4	-0.511	0.11970	.	0.817974	0.10849	N	0.627391	T	0.40719	0.1128	M	0.88775	2.98	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;P;D	0.69479	0.964;0.964;0.898;0.964	T	0.15378	-1.0439	10	0.46703	T	0.11	.	6.9969	0.24786	0.0:0.2682:0.4327:0.2991	.	92;92;92;92	B5ME56;B3KV05;Q96S37-2;Q96S37	.;.;.;S22AC_HUMAN	H	92	ENSP00000366790:R92H;ENSP00000366797:R92H;ENSP00000366795:R92H;ENSP00000336836:R92H	ENSP00000336836:R92H	R	+	2	0	SLC22A12	64115879	0.000000	0.05858	0.977000	0.42913	0.296000	0.27459	-0.084000	0.11268	0.237000	0.21200	0.484000	0.47621	CGC	SLC22A12-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000141957.2		+	ENST00000377567.2	Missense_Mutation	SNP	11 : 64359303 - 64359303 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	221	40
SMC1B	27127	broad.mit.edu	37	22	45765841	45765841	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:45765841G>T	ENST00000357450.4	-	15	2412	c.2413C>A	c.(2413-2415)Caa>Aaa	p.Q805K	SMC1B_ENST00000404354.3_Missense_Mutation_p.Q805K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	805					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TACCTTTTTTGATCAATTTCT	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	48	48			NA	NA	22		NA											NA				45765841		1791	4053	5844	SO:0001583	missense			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935	27127	27127		Structural maintenance of chromosomes proteins	11112	protein-coding gene	gene with protein product		608685	SMC1 (structural maintenance of chromosomes 1, yeast)-like 1, SMC1 structural maintenance of chromosomes 1-like 2 (yeast)	SMC1L2	NA	10591208, 11564881	Standard	NM_148674	XM_005261566	NA	Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2413C>A	22.37:g.45765841G>T	ENSP00000350036:p.Gln805Lys	NA	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	37	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	3.668	-0.068042	0.07228	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.77877	-1.13;-0.93	5.79	3.6	0.41247	RecF/RecN/SMC (1);	0.107611	0.40064	N	0.001198	T	0.45617	0.1351	N	0.01289	-0.905	0.29170	N	0.877191	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.11329	0.006;0.002;0.001	T	0.37454	-0.9705	10	0.02654	T	1	.	12.0528	0.53515	0.0:0.0:0.4371:0.5629	.	805;805;805	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	K	805	ENSP00000350036:Q805K;ENSP00000385902:Q805K	ENSP00000350036:Q805K	Q	-	1	0	SMC1B	44144505	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.708000	0.61859	1.423000	0.47198	0.585000	0.79938	CAA	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322256.2		-	ENST00000357450.4	Missense_Mutation	SNP	22 : 45765841 - 45765841 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	466	15
SPATA16	83893	broad.mit.edu	37	3	172634107	172634107	+	Splice_Site	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:172634107C>A	ENST00000351008.3	-	9	1686	c.1503G>T	c.(1501-1503)ttG>ttT	p.L501F		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	501					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AAATACTTACCAATTCTGCCT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	153	153			NA	NA	3		NA											NA				172634107		2203	4300	6503	SO:0001630	splice_region_variant			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962	83893	83893			29935	protein-coding gene	gene with protein product		609856			NA	12529416, 17847006	Standard	NM_031955	NM_031955	NA	Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1503+1G>T	3.37:g.172634107C>A		NA	Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	37	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.491014	0.64074	.	.	ENSG00000144962	ENST00000351008	T	0.26660	1.72	6.16	6.16	0.99307	.	0.109181	0.40908	D	0.000983	T	0.40546	0.1121	L	0.32530	0.975	0.44871	D	0.997886	D	0.63046	0.992	P	0.62298	0.9	T	0.01130	-1.1442	9	.	.	.	-5.1947	20.8598	0.99761	0.0:1.0:0.0:0.0	.	501	Q9BXB7	SPT16_HUMAN	F	501	ENSP00000341765:L501F	.	L	-	3	2	SPATA16	174116801	1.000000	0.71417	0.998000	0.56505	0.184000	0.23303	3.061000	0.49963	2.937000	0.99478	0.650000	0.86243	TTG	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346322.1	Missense_Mutation	-	ENST00000351008.3	Splice_Site	SNP	3 : 172634107 - 172634107 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	898	14
SPTA1	6708	broad.mit.edu	37	1	158592860	158592860	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:158592860G>T	ENST00000368147.4	-	43	6213	c.6033C>A	c.(6031-6033)gcC>gcA	p.A2011A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.A2011A(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAGCAGAGCGGCATAACGCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	prostate(1)|lung(1)											265	265	265			NA	NA	1		NA											NA				158592860		1942	4142	6084	SO:0001819	synonymous_variant			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	6708	6708		EF-hand domain containing	11272	protein-coding gene	gene with protein product	elliptocytosis 2	182860	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		NA		Standard	NM_003126	NM_003126	NA	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6033C>A	1.37:g.158592860G>T		NA	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	37	CCDS41423.1																																																																																			SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051851.3		-	ENST00000368147.4	Silent	SNP	1 : 158592860 - 158592860 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	1356	13
SSUH2	51066	broad.mit.edu	37	3	8669466	8669466	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:8669466G>A	ENST00000317371.4	-	15	1751	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	SSUH2_ENST00000415132.1_Missense_Mutation_p.R176W|SSUH2_ENST00000341795.3_Missense_Mutation_p.R176W|SSUH2_ENST00000544814.1_Missense_Mutation_p.R198W					ssu-2 homolog (C. elegans)	NA											NA						GATGGGCACCGCACCTGCAGA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	0,4406		0,0,2203	47	43	44		526	-5.2	0	3		44	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf32	NM_015931.1	101	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	176/354	8669466	1,13005	2203	4300	6503	SO:0001583	missense			AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046	51066	51066			24809	protein-coding gene	gene with protein product			chromosome 3 open reading frame 32	C3orf32	NA	20205943	Standard	NM_015931	NM_001256748	NA	Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.526C>T	3.37:g.8669466G>A	ENSP00000324551:p.Arg176Trp	NA		37	CCDS2568.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086021	0.36855	0.0	1.16E-4	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814	T;T;T;T	0.49720	0.79;0.79;0.77;0.79	5.36	-5.21	0.02815	.	0.285278	0.35870	N	0.002939	T	0.61236	0.2331	M	0.74881	2.28	0.09310	N	1	D;D	0.71674	0.998;0.998	P;P	0.62298	0.9;0.9	T	0.66027	-0.6025	10	0.72032	D	0.01	-10.8102	17.9076	0.88923	0.0:0.0:0.7685:0.2315	.	198;176	F5H2S5;Q9Y2M2	.;CC032_HUMAN	W	176;176;176;198	ENSP00000339150:R176W;ENSP00000324551:R176W;ENSP00000410757:R176W;ENSP00000439378:R198W	ENSP00000324551:R176W	R	-	1	2	C3orf32	8644466	0.769000	0.28531	0.000000	0.03702	0.001000	0.01503	0.143000	0.16115	-0.658000	0.05366	-0.467000	0.05162	CGG	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337900.1		-	ENST00000317371.4	Missense_Mutation	SNP	3 : 8669466 - 8669466 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	272	36
STAT1	6772	broad.mit.edu	37	2	191847210	191847210	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:191847210C>T	ENST00000392323.2	-	19	1898	c.1487G>A	c.(1486-1488)cGa>cAa	p.R496Q	STAT1_ENST00000392322.3_Missense_Mutation_p.R494Q|STAT1_ENST00000361099.3_Missense_Mutation_p.R494Q|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.R494Q			P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	494					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	CTGAGCCCATCGTGCACATGG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	101	101			NA	NA	2		NA											NA				191847210		2203	4300	6503	SO:0001583	missense				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415	6772	6772		SH2 domain containing	11362	protein-coding gene	gene with protein product	transcription factor ISGF-3 components p91/p84	600555	signal transducer and activator of transcription 1, 91kD		NA	7885841	Standard	NM_007315	NM_139266	NA	Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000392323.2:c.1487G>A	2.37:g.191847210C>T	ENSP00000376137:p.Arg496Gln	NA	A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	37		.	.	.	.	.	.	.	.	.	.	C	13.02	2.112096	0.37242	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.31	3.15	0.36227	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.310219	0.34932	N	0.003580	T	0.61986	0.2391	L	0.31664	0.95	0.18873	N	0.999986	B;B	0.20780	0.048;0.005	B;B	0.17098	0.016;0.017	T	0.41945	-0.9480	10	0.12766	T	0.61	-3.6255	10.1437	0.42751	0.0:0.7608:0.0:0.2392	.	494;494	P42224-2;P42224	.;STAT1_HUMAN	Q	494;494;494;496	ENSP00000354394:R494Q;ENSP00000386244:R494Q;ENSP00000376136:R494Q;ENSP00000376137:R496Q	ENSP00000354394:R494Q	R	-	2	0	STAT1	191555455	0.002000	0.14202	0.932000	0.37286	0.981000	0.71138	0.290000	0.18975	1.304000	0.44892	0.655000	0.94253	CGA	STAT1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000257868.2		-	ENST00000392323.2	Missense_Mutation	SNP	2 : 191847210 - 191847210 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	570	48
STS	412	broad.mit.edu	37	X	7268006	7268006	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:7268006G>A	ENST00000217961.4	+	10	1676	c.1456G>A	c.(1456-1458)Gtg>Atg	p.V486M		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	486					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TGCCACACACGTGTGCTTCTG	0.488		NA							Ichthyosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	97	102			NA	NA	X		NA											NA				7268006		2203	4299	6502	SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	412	412	3.1.6.2	Arylsulfatase family	11425	protein-coding gene	gene with protein product	arylsulfatase C	300747	steroid sulfatase (microsomal), arylsulfatase C, isozyme S	ARSC1	NA		Standard	NM_000351	NM_000351	NA	Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1456G>A	X.37:g.7268006G>A	ENSP00000217961:p.Val486Met	NA	B2RA47	37	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928468	0.34002	.	.	ENSG00000101846	ENST00000217961	D	0.91068	-2.78	4.22	4.22	0.49857	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.186047	0.33023	N	0.005369	D	0.91432	0.7296	M	0.85630	2.765	0.35164	D	0.770921	P	0.51147	0.942	B	0.43301	0.415	D	0.94820	0.7986	10	0.49607	T	0.09	.	14.6151	0.68541	0.0:0.0:1.0:0.0	.	486	P08842	STS_HUMAN	M	486	ENSP00000217961:V486M	ENSP00000217961:V486M	V	+	1	0	STS	7278006	0.997000	0.39634	0.494000	0.27515	0.029000	0.11900	2.447000	0.44917	1.720000	0.51447	0.600000	0.82982	GTG	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055686.1		+	ENST00000217961.4	Missense_Mutation	SNP	X : 7268006 - 7268006 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	290	52
TLE1	7088	broad.mit.edu	37	9	84208113	84208113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:84208113C>A	ENST00000376499.3	-	15	2472	c.1408G>T	c.(1408-1410)Gga>Tga	p.G470*		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	470					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CGGGGGATTCCGGGTCCGATG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)							NA				0													102	98	99			NA	NA	9		NA											NA				84208113		2203	4300	6503	SO:0001587	stop_gained				CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781	7088	7088		WD repeat domain containing	11837	protein-coding gene	gene with protein product	enhancer of split groucho 1	600189	transducin-like enhancer of split 1, homolog of Drosophila E(sp1)		NA	8365415, 8808280	Standard	NM_005077	NM_005077	NA	Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1408G>T	9.37:g.84208113C>A	ENSP00000365682:p.Gly470*	NA	A8K495|Q5T3G4|Q969V9	37	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	c	49	15.038241	0.99820	.	.	ENSG00000196781	ENST00000376499	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.4443	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	X	470	.	ENSP00000365682:G470X	G	-	1	0	TLE1	83397933	1.000000	0.71417	0.964000	0.40570	0.971000	0.66376	6.079000	0.71291	2.832000	0.97577	0.655000	0.94253	GGA	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055407.1		-	ENST00000376499.3	Nonsense_Mutation	SNP	9 : 84208113 - 84208113 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	554	10
TMEM248	55069	broad.mit.edu	37	7	66418350	66418350	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:66418350C>A	ENST00000341567.4	+	6	1173	c.918C>A	c.(916-918)ccC>ccA	p.P306P		NM_017994.4	NP_060464.1			transmembrane protein 248	NA								p.P306P(1)			NA						AATTTTGTCCCGAGAAGGTGA	0.453		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)											160	154	156			NA	NA	7		NA											NA				66418350		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609	55069	55069			25476	protein-coding gene	gene with protein product			chromosome 7 open reading frame 42	C7orf42	NA	12477932	Standard	NM_017994	XM_005250482	NA	Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.918C>A	7.37:g.66418350C>A		NA		37	CCDS5536.1																																																																																			TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251745.2		+	ENST00000341567.4	Silent	SNP	7 : 66418350 - 66418350 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	795	10
TNXB	7148	broad.mit.edu	37	6	32049954	32049954	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:32049954G>A	ENST00000375244.3	-	9	3796	c.3595C>T	c.(3595-3597)Cgg>Tgg	p.R1199W	TNXB_ENST00000375247.2_Missense_Mutation_p.R1199W			P22105	TENX_HUMAN	tenascin XB	1286	Fibronectin type-III 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCTGGGGCCGTCCATCCCTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	40	42			NA	NA	6		NA											NA				32049954		1266	2540	3806	SO:0001583	missense			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477	7148	7148		Fibrinogen C domain containing, Fibronectin type III domain containing	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2	NA	8530023	Standard	NM_019105	NM_019105	NA	Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3595C>T	6.37:g.32049954G>A	ENSP00000364393:p.Arg1199Trp	NA	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	37		.	.	.	.	.	.	.	.	.	.	G	17.01	3.278036	0.59758	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57273	0.41;0.41	4.74	4.74	0.60224	.	0.905187	0.09249	N	0.828076	T	0.53867	0.1823	M	0.61703	1.905	0.09310	N	1	D	0.64830	0.994	P	0.61397	0.888	T	0.41698	-0.9494	10	0.39692	T	0.17	.	10.3406	0.43875	0.0:0.0:0.804:0.196	.	1199	P22105-3	.	W	1199	ENSP00000364393:R1199W;ENSP00000364396:R1199W	ENSP00000364393:R1199W	R	-	1	2	TNXB	32157932	0.003000	0.15002	0.035000	0.18076	0.930000	0.56654	1.320000	0.33666	2.461000	0.83175	0.407000	0.27541	CGG	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000268927.2		-	ENST00000375244.3	Missense_Mutation	SNP	6 : 32049954 - 32049954 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	184	47
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65	56	59			NA	NA	17		NA											NA				7577121		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.817C>T	17.37:g.7577121G>A	ENSP00000391127:p.Arg273Cys	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577121 - 7577121 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	119	18
TRIM38	10475	broad.mit.edu	37	6	25972146	25972146	+	Missense_Mutation	SNP	T	T	G			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:25972146T>G	ENST00000357085.3	+	5	1033	c.557T>G	c.(556-558)cTc>cGc	p.L186R	TRIM38_ENST00000349458.3_Missense_Mutation_p.L186R	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	186					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TTTAAGAATCTCCAGTGTTTC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	63	63			NA	NA	6		NA											NA				25972146		2203	4300	6503	SO:0001583	missense			U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343	10475	10475		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	10059	protein-coding gene	gene with protein product			ring finger protein 15, tripartite motif-containing 38	RNF15	NA		Standard		XR_241880	NA	Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.557T>G	6.37:g.25972146T>G	ENSP00000349596:p.Leu186Arg	NA		37	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	t	8.516	0.867585	0.17250	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.07216	3.21;3.21;3.21	4.55	3.37	0.38596	.	0.000000	0.39985	N	0.001212	T	0.07999	0.0200	M	0.80746	2.51	0.09310	N	0.999999	P	0.52316	0.952	P	0.52267	0.694	T	0.16188	-1.0411	10	0.27082	T	0.32	.	7.6274	0.28220	0.1881:0.0:0.0:0.8119	.	186	O00635	TRI38_HUMAN	R	186	ENSP00000443976:L186R;ENSP00000230099:L186R;ENSP00000349596:L186R	ENSP00000230099:L186R	L	+	2	0	TRIM38	26080125	0.041000	0.20044	0.012000	0.15200	0.001000	0.01503	2.090000	0.41682	1.047000	0.40274	-0.327000	0.08410	CTC	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040076.2		+	ENST00000357085.3	Missense_Mutation	SNP	6 : 25972146 - 25972146 G PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	289	27
TTN	7273	broad.mit.edu	37	2	179598474	179598474	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:179598474G>T	ENST00000589042.1	-	53	15866	c.15642C>A	c.(15640-15642)atC>atA	p.I5214I	TTN_ENST00000342992.6_Silent_p.I3970I|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.I4897I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4897	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTCATTTTGATTTTTCCGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	191	195			NA	NA	2		NA											NA				179598474		1904	4138	6042	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.15642C>A	2.37:g.179598474G>T		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179598474 - 179598474 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	744	20
TTN	7273	broad.mit.edu	37	2	179583118	179583118	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:179583118C>T	ENST00000589042.1	-	85	24939	c.24715G>A	c.(24715-24717)Gca>Aca	p.A8239T	TTN_ENST00000342992.6_Missense_Mutation_p.A6995T|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A7922T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7922	Ig-like 65.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTACTGTGCATAATCCTCT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	132	134			NA	NA	2		NA											NA				179583118		1887	4115	6002	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.24715G>A	2.37:g.179583118C>T	ENSP00000467141:p.Ala8239Thr	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626923	0.46840	.	.	ENSG00000155657	ENST00000342992	T	0.45276	0.9	6.16	6.16	0.99307	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55433	0.1920	M	0.79926	2.475	0.80722	D	1	B	0.31459	0.324	B	0.36418	0.224	T	0.56823	-0.7915	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	7922	Q8WZ42	TITIN_HUMAN	T	6995	ENSP00000343764:A6995T	ENSP00000343764:A6995T	A	-	1	0	TTN	179291363	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.607000	0.61133	2.937000	0.99478	0.650000	0.86243	GCA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179583118 - 179583118 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	364	54
TUBA8	51807	broad.mit.edu	37	22	18606952	18606952	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:18606952C>T	ENST00000316027.6	+	3	406	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	TUBA8_ENST00000330423.3_Missense_Mutation_p.L86F	NM_001193414.1	NP_001180343.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	86					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CTACCGCCAGCTCTTCCATCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	60	62			NA	NA	22		NA											NA				18606952		2203	4300	6503	SO:0001583	missense			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785	51807	51807		Tubulins	12410	protein-coding gene	gene with protein product		605742		TUBAL2	NA	10772959, 10591208	Standard	NM_018943	NM_001193414	NA	Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000316027.6:c.58C>T	22.37:g.18606952C>T	ENSP00000318575:p.Leu20Phe	NA	B2RCX2|Q2M3N4	37	CCDS54495.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565399	0.65651	.	.	ENSG00000183785	ENST00000426208;ENST00000316027;ENST00000330423;ENST00000416740	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.11	5.11	0.69529	Tubulin/FtsZ, GTPase domain (4);	0.065611	0.64402	N	0.000012	D	0.88599	0.6480	H	0.95224	3.64	0.54753	D	0.999981	P;D;P	0.76494	0.767;0.999;0.767	B;D;B	0.67103	0.356;0.949;0.36	D	0.91998	0.5608	10	0.87932	D	0	.	17.8832	0.88846	0.0:1.0:0.0:0.0	.	110;86;85	C9J2C0;Q9NY65;Q7Z3M3	.;TBA8_HUMAN;.	F	20;20;86;110	ENSP00000407624:L20F;ENSP00000318575:L20F;ENSP00000333326:L86F;ENSP00000412646:L110F	ENSP00000318575:L20F	L	+	1	0	TUBA8	16986952	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.554000	0.86153	0.462000	0.41574	CTC	TUBA8-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316233.2		+	ENST00000316027.6	Missense_Mutation	SNP	22 : 18606952 - 18606952 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	202	16
UGT3A2	167127	broad.mit.edu	37	5	36066823	36066823	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:36066823G>T	ENST00000513300.1	-	1	161	c.69C>A	c.(67-69)gcC>gcA	p.A23A	UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000282507.3_Silent_p.A23A	NM_001168316.1	NP_001161788.1	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	23						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAGGATTTTGGCAGCCTCTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	150	148			NA	NA	5		NA											NA				36066823		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671	167127	167127		UDP glucuronosyltransferases	27266	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_174914	NM_174914	NA	Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000513300.1:c.69C>A	5.37:g.36066823G>T		NA	Q6UXC4|Q8NBP2	37	CCDS54842.1																																																																																			UGT3A2-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367177.1		-	ENST00000513300.1	Silent	SNP	5 : 36066823 - 36066823 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	786	13
ZFP91	80829	broad.mit.edu	37	11	58379764	58379764	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:58379764C>T	ENST00000316059.6	+	7	1042	c.871C>T	c.(871-873)Cga>Tga	p.R291*	ZFP91-CNTF_ENST00000389919.4_Nonsense_Mutation_p.R291*	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	291					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGGAAGAAGACGAAAAGATGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	92	95			NA	NA	11		NA											NA				58379764		2201	4295	6496	SO:0001587	stop_gained			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660	80829	80829		Zinc fingers, C2H2-type	14983	protein-coding gene	gene with protein product			zinc finger protein homologous to Zfp91 in mouse, zinc finger protein 91 homolog (mouse)		NA	12738986, 20682767	Standard	NM_053023	NM_053023	NA	Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.871C>T	11.37:g.58379764C>T	ENSP00000339030:p.Arg291*	NA	A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	37	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	C	38	6.963557	0.97967	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	.	.	.	5.69	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-6.2665	11.456	0.50183	0.3271:0.6729:0.0:0.0	.	.	.	.	X	291	.	ENSP00000374569:R291X	R	+	1	2	ZFP91	58136340	0.985000	0.35326	1.000000	0.80357	0.992000	0.81027	0.526000	0.22971	1.346000	0.45694	0.650000	0.86243	CGA	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268674.1		+	ENST00000316059.6	Nonsense_Mutation	SNP	11 : 58379764 - 58379764 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	335	34
ZNF160	90338	broad.mit.edu	37	19	53577428	53577428	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:53577428G>T	ENST00000601421.1	-	2	1004	c.128C>A	c.(127-129)cCa>cAa	p.P43Q	ZNF160_ENST00000355147.5_Missense_Mutation_p.P79Q|ZNF160_ENST00000429604.1_Missense_Mutation_p.P79Q|ZNF160_ENST00000418871.1_Missense_Mutation_p.P79Q|ZNF160_ENST00000599056.1_Missense_Mutation_p.P79Q			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	79	KRAB.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CGGCGTTCTTGGTTTTCTTGC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	166	176			NA	NA	19		NA											NA				53577428		2203	4300	6503	SO:0001583	missense			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949	90338	90338		Zinc fingers, C2H2-type, -	12948	protein-coding gene	gene with protein product		600398			NA	7774943, 7865130	Standard	NM_033288	NM_198893	NA	Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000601421.1:c.128C>A	19.37:g.53577428G>T	ENSP00000470573:p.Pro43Gln	NA	Q14589|Q504Q8|Q96JC5|Q9H7N6	37		.	.	.	.	.	.	.	.	.	.	G	8.875	0.950181	0.18431	.	.	ENSG00000170949	ENST00000429604;ENST00000418871;ENST00000355147	T;T;T	0.08102	3.13;3.13;5.47	1.96	0.634	0.17718	Krueppel-associated box (1);	.	.	.	.	T	0.09335	0.0230	L	0.56340	1.77	0.09310	N	1	B;P	0.42757	0.409;0.789	B;B	0.41135	0.184;0.348	T	0.21552	-1.0242	9	0.87932	D	0	.	5.804	0.18430	0.0:0.0:0.5984:0.4016	.	79;79	Q9BVY9;Q9HCG1	.;ZN160_HUMAN	Q	79	ENSP00000406201:P79Q;ENSP00000409597:P79Q;ENSP00000347273:P79Q	ENSP00000347273:P79Q	P	-	2	0	ZNF160	58269240	0.007000	0.16637	0.002000	0.10522	0.045000	0.14185	0.725000	0.25970	0.193000	0.20303	0.555000	0.69702	CCA	ZNF160-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000464024.1		-	ENST00000601421.1	Missense_Mutation	SNP	19 : 53577428 - 53577428 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	703	11
ZNF280A	129025	broad.mit.edu	37	22	22868515	22868515	+	Silent	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:22868515C>T	ENST00000302097.3	-	2	1692	c.1440G>A	c.(1438-1440)ccG>ccA	p.P480P		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GCAGTTGCTCCGGCTTTTTAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	118	123			NA	NA	22		NA											NA				22868515		2203	4300	6503	SO:0001819	synonymous_variant			D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548	129025	129025			18597	protein-coding gene	gene with protein product			zinc finger protein 280, suppressor of hairy wing homolog 1 (Drosophila)	ZNF280, SUHW1	NA	9074928	Standard	NM_080740	NM_080740	NA	Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1440G>A	22.37:g.22868515C>T		NA		37	CCDS13800.1																																																																																			ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075433.3		-	ENST00000302097.3	Silent	SNP	22 : 22868515 - 22868515 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	642	59
ZNF442	79973	broad.mit.edu	37	19	12461420	12461420	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:12461420C>A	ENST00000242804.4	-	6	1561	c.979G>T	c.(979-981)Ggg>Tgg	p.G327W	ZNF442_ENST00000438182.1_Missense_Mutation_p.G258W	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AATGCTTTCCCGCATTGCTTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	204	206			NA	NA	19		NA											NA				12461420		2203	4300	6503	SO:0001583	missense			AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342	79973	79973		Zinc fingers, C2H2-type, -	20877	protein-coding gene	gene with protein product					NA		Standard	NM_030824	NM_030824	NA	Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.979G>T	19.37:g.12461420C>A	ENSP00000242804:p.Gly327Trp	NA		37	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.379391	0.42207	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.01051	5.4;5.4	0.832	-0.357	0.12579	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08358	0.0208	H	0.96080	3.765	0.34524	D	0.708446	D	0.89917	1.0	D	0.97110	1.0	T	0.05131	-1.0904	9	0.87932	D	0	.	5.1771	0.15141	0.0:0.7619:0.0:0.2381	.	327	Q9H7R0	ZN442_HUMAN	W	327;258	ENSP00000242804:G327W;ENSP00000388634:G258W	ENSP00000242804:G327W	G	-	1	0	ZNF442	12322420	0.009000	0.17119	0.000000	0.03702	0.227000	0.25037	0.946000	0.29069	-0.077000	0.12752	0.313000	0.20887	GGG	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344109.1		-	ENST00000242804.4	Missense_Mutation	SNP	19 : 12461420 - 12461420 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	1006	11
ZNF471	57573	broad.mit.edu	37	19	57035792	57035792	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:57035792C>A	ENST00000591537.1	+	5	382				ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000308031.5_Missense_Mutation_p.S119Y			Q9BX82	ZN471_HUMAN	zinc finger protein 471	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S119F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CTTGAGTGTTCCACTTTTGAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)							NA				1	Substitution - Missense(1)	lung(1)											86	82	83			NA	NA	19		NA											NA				57035792		2203	4300	6503	SO:0001627	intron_variant			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263	57573	57573		Zinc fingers, C2H2-type, -	23226	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_020813	NM_020813	NA	Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000591537.1:c.257-322C>A	19.37:g.57035792C>A		NA	O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	37		.	.	.	.	.	.	.	.	.	.	C	8.530	0.870742	0.17322	.	.	ENSG00000196263	ENST00000308031	T	0.06687	3.27	3.95	1.61	0.23674	.	.	.	.	.	T	0.08358	0.0208	L	0.57536	1.79	0.09310	N	1	P	0.52842	0.956	P	0.44732	0.459	T	0.07233	-1.0783	9	0.02654	T	1	.	7.3183	0.26513	0.0:0.5848:0.3213:0.094	.	119	Q9BX82	ZN471_HUMAN	Y	119	ENSP00000309161:S119Y	ENSP00000309161:S119Y	S	+	2	0	ZNF471	61727604	0.002000	0.14202	0.005000	0.12908	0.940000	0.58332	0.172000	0.16704	0.378000	0.24764	0.563000	0.77884	TCC	ZNF471-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458406.1		+	ENST00000591537.1	Intron	SNP	19 : 57035792 - 57035792 A PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	445	8
ZNF772	400720	broad.mit.edu	37	19	57985561	57985561	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:57985561C>T	ENST00000343280.4	-	5	811	c.551G>A	c.(550-552)aGt>aAt	p.S184N	AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.S143N|ZNF772_ENST00000427512.2_Missense_Mutation_p.S72N|AC004076.9_ENST00000596831.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		AAGGTTTGCACTGAAGCAGAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(5;289 436 14293 15924 30817)							NA				0													118	103	108			NA	NA	19		NA											NA				57985561		2203	4300	6503	SO:0001583	missense			BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128	400720	400720		Zinc fingers, C2H2-type, -	33106	protein-coding gene	gene with protein product					NA		Standard	NM_001024596	NM_001024596	NA	Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.551G>A	19.37:g.57985561C>T	ENSP00000341165:p.Ser184Asn	NA	B4DH56	37	CCDS33133.1	.	.	.	.	.	.	.	.	.	.	C	6.499	0.460340	0.12342	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000319969;ENST00000356584;ENST00000291809	T;T;T	0.10477	2.87;2.87;2.87	3.99	-3.85	0.04243	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	N	0.11560	0.145	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.40794	-0.9544	9	0.37606	T	0.19	.	2.2791	0.04110	0.1337:0.3595:0.3269:0.1799	.	72;143;184	Q68DY9-2;A6NJK9;Q68DY9	.;.;ZN772_HUMAN	N	184;72;130;143;109	ENSP00000341165:S184N;ENSP00000395967:S72N;ENSP00000348992:S143N	ENSP00000291809:S109N	S	-	2	0	ZNF772	62677373	0.000000	0.05858	0.000000	0.03702	0.422000	0.31414	-3.962000	0.00324	-0.300000	0.08895	-0.479000	0.04858	AGT	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397447.1		-	ENST00000343280.4	Missense_Mutation	SNP	19 : 57985561 - 57985561 T PAAD-TCGA-XN-A8T3-Tumor-SM-5KWXU	606	44
