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
ABCC9	10060	broad.mit.edu	37	12	22025599	22025599	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr12:22025599C>T	ENST00000261200.4	-	16	2157	c.2158G>A	c.(2158-2160)Ggt>Agt	p.G720S	ABCC9_ENST00000345162.2_Missense_Mutation_p.G684S|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.G720S	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	720	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.G720C(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGCATCTCACCGAGGATGGCA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	kidney(2)											238	230	233			NA	NA	12		NA											NA				22025599		2203	4300	6503	SO:0001583	missense			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431	10060	10060		ATP binding cassette transporters / subfamily C	60	protein-coding gene	gene with protein product	sulfonylurea receptor 2	601439			NA	9457174, 15034580	Standard	NM_005691	NM_020297	NA	Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261200.4:c.2158G>A	12.37:g.22025599C>T	ENSP00000261200:p.Gly720Ser	NA	O60707	37	CCDS8693.1	.	.	.	.	.	.	.	.	.	.	C	35	5.413057	0.96072	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.63	5.63	0.86233	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96160	0.8748	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96238	0.9173	10	0.87932	D	0	-13.3901	19.6499	0.95796	0.0:1.0:0.0:0.0	.	720;720	O60706;O60706-2	ABCC9_HUMAN;.	S	720;347;720;684	ENSP00000261200:G720S;ENSP00000440521:G347S;ENSP00000261201:G720S;ENSP00000261202:G684S	ENSP00000261200:G720S	G	-	1	0	ABCC9	21916866	1.000000	0.71417	0.917000	0.36280	0.909000	0.53808	7.600000	0.82769	2.814000	0.96858	0.563000	0.77884	GGT	ABCC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402228.1		-	ENST00000261200.4	Missense_Mutation	SNP	12 : 22025599 - 22025599 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	1017	74
ADAMTS12	81792	broad.mit.edu	37	5	33549440	33549440	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr5:33549440C>T	ENST00000504830.1	-	21	4509	c.4174G>A	c.(4174-4176)Gtg>Atg	p.V1392M	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V1307M	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1392	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CGGCTGTCCACGCACTGAATC	0.562		NA								HNSCC(64;0.19)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	95	92			NA	NA	5		NA											NA				33549440		2203	4300	6503	SO:0001583	missense			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388	81792	81792		ADAM metallopeptidases with thrombospondin type 1 motif	14605	protein-coding gene	gene with protein product		606184	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12		NA	11279086	Standard	NM_030955	NM_030955	NA	Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4174G>A	5.37:g.33549440C>T	ENSP00000422554:p.Val1392Met	NA	A2RRN9|A5D6V6|Q6UWL3	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033374	0.35893	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.62232	0.04;0.04	5.16	1.05	0.20165	.	0.339195	0.30483	N	0.009529	T	0.45377	0.1339	L	0.42529	1.33	0.80722	D	1	B;B	0.29716	0.255;0.194	B;B	0.22601	0.024;0.04	T	0.20472	-1.0274	10	0.51188	T	0.08	.	4.7832	0.13213	0.0:0.4534:0.2926:0.254	.	1307;1392	P58397-3;P58397	.;ATS12_HUMAN	M	1392;1307	ENSP00000422554:V1392M;ENSP00000344847:V1307M	ENSP00000344847:V1307M	V	-	1	0	ADAMTS12	33585197	0.799000	0.28903	0.986000	0.45419	0.987000	0.75469	-0.063000	0.11655	-0.105000	0.12132	-0.312000	0.09012	GTG	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367164.2		-	ENST00000504830.1	Missense_Mutation	SNP	5 : 33549440 - 33549440 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	625	51
ASB15	142685	broad.mit.edu	37	7	123254593	123254593	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr7:123254593A>G	ENST00000451558.1	+	6	558	c.37A>G	c.(37-39)Aca>Gca	p.T13A	ASB15_ENST00000540573.1_Missense_Mutation_p.T13A|ASB15_ENST00000434204.1_Missense_Mutation_p.T13A|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000275699.3_Missense_Mutation_p.T13A|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000451215.1_Missense_Mutation_p.T13A			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	13					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGACCATCTTACAAGTTATGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	213	212			NA	NA	7		NA											NA				123254593		2203	4300	6503	SO:0001583	missense			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809	142685	142685		Ankyrin repeat domain containing	19767	protein-coding gene	gene with protein product			ankyrin repeat and SOCS box-containing 15		NA	12076535	Standard		XM_005250149	NA	Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.37A>G	7.37:g.123254593A>G	ENSP00000397655:p.Thr13Ala	NA	Q3ZCP3|Q3ZCP5|Q68D37	37	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.373191	0.42105	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000437535;ENST00000451215;ENST00000540573;ENST00000447789;ENST00000275699	T;T;T;T;T;T;T	0.68903	-0.3;-0.3;0.83;-0.3;-0.3;-0.36;-0.3	6.04	1.13	0.20643	.	0.270670	0.31221	N	0.008021	T	0.42899	0.1223	N	0.24115	0.695	0.28159	N	0.929077	B	0.09022	0.002	B	0.06405	0.002	T	0.32534	-0.9903	10	0.02654	T	1	-39.6481	9.3766	0.38286	0.7265:0.0:0.2735:0.0	.	13	Q8WXK1	ASB15_HUMAN	A	13	ENSP00000397655:T13A;ENSP00000390963:T13A;ENSP00000406163:T13A;ENSP00000416433:T13A;ENSP00000438643:T13A;ENSP00000401166:T13A;ENSP00000275699:T13A	ENSP00000275699:T13A	T	+	1	0	ASB15	123041829	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	2.916000	0.48813	-0.029000	0.13827	0.460000	0.39030	ACA	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347493.1		+	ENST00000451558.1	Missense_Mutation	SNP	7 : 123254593 - 123254593 G PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	1098	93
BEST1	7439	broad.mit.edu	37	11	61719315	61719315	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:61719315C>T	ENST00000534553.1	+	1	365				BEST1_ENST00000378042.3_5'UTR|BEST1_ENST00000449131.2_Intron|BEST1_ENST00000435278.2_Missense_Mutation_p.R13C|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000378043.4_Missense_Mutation_p.R13C			O76090	BEST1_HUMAN	bestrophin 1	NA					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						GGCTAATGCCCGCTTAGGCTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	98	103			NA	NA	11		NA											NA				61719315		2202	4299	6501	SO:0001627	intron_variant			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995	7439	7439		Ion channels / Chloride channels : Calcium activated : Bestrophins	12703	protein-coding gene	gene with protein product	Best disease	607854	vitelliform macular dystrophy 2	VMD2	NA	1302019, 17003041	Standard	NM_004183	NM_004183	NA	Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000534553.1:c.-212+1416C>T	11.37:g.61719315C>T		NA	A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	37		.	.	.	.	.	.	.	.	.	.	C	26.6	4.752660	0.89753	.	.	ENSG00000167995	ENST00000378043;ENST00000435278	D;D	0.98280	-4.27;-4.84	5.46	5.46	0.80206	.	0.155755	0.44285	U	0.000476	D	0.99202	0.9723	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70487	0.969;0.949	D	0.99289	1.0898	10	0.72032	D	0.01	.	18.9153	0.92503	0.0:1.0:0.0:0.0	.	13;13	B7Z375;O76090	.;BEST1_HUMAN	C	13	ENSP00000367282:R13C;ENSP00000408390:R13C	ENSP00000367282:R13C	R	+	1	0	BEST1	61475891	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	4.891000	0.63185	2.567000	0.86603	0.561000	0.74099	CGC	BEST1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394716.2		+	ENST00000534553.1	Intron	SNP	11 : 61719315 - 61719315 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	484	37
BMPR1A	657	broad.mit.edu	37	10	88659808	88659808	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:88659808G>A	ENST00000372037.3	+	7	992	c.455G>A	c.(454-456)cGa>cAa	p.R152Q		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	NA					BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						GGCAGCATTCGATGGCTGGTT	0.353		NA	Mis, N, F			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(190;603 2086 22044 30335 47971)	yes	Rec		Juvenile polyposis	10	10q22.3	657	bone morphogenetic protein receptor, type IA		E	0													103	101	101			NA	NA	10		NA											NA				88659808		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779	657	657		CD molecules	1076	protein-coding gene	gene with protein product		601299		ACVRLK3	NA	8397373, 9730621	Standard	NM_004329	NM_004329	NA	Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.455G>A	10.37:g.88659808G>A	ENSP00000361107:p.Arg152Gln	NA	A8K6U9|Q8NEN8	37	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.402822	0.25291	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.82803	-1.65	4.77	4.77	0.60923	.	0.114590	0.64402	D	0.000014	T	0.69441	0.3111	N	0.22421	0.69	0.44241	D	0.997087	B	0.10296	0.003	B	0.06405	0.002	T	0.62567	-0.6827	10	0.13108	T	0.6	.	11.4089	0.49915	0.0856:0.0:0.9144:0.0	.	152	P36894	BMR1A_HUMAN	Q	152	ENSP00000361107:R152Q	ENSP00000224764:R152Q	R	+	2	0	BMPR1A	88649788	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	5.120000	0.64685	2.574000	0.86865	0.563000	0.77884	CGA	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049170.3		+	ENST00000372037.3	Missense_Mutation	SNP	10 : 88659808 - 88659808 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	657	46
CCDC7	79741	broad.mit.edu	37	10	32740612	32740612	+	Silent	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:32740612G>A	ENST00000362006.5	+	2	585	c.42G>A	c.(40-42)tcG>tcA	p.S14S	CCDC7_ENST00000277657.6_Silent_p.S14S|CCDC7_ENST00000535327.1_Silent_p.S14S|CCDC7_ENST00000537047.1_Silent_p.S14S|CCDC7_ENST00000539197.1_Silent_p.S14S|CCDC7_ENST00000545067.1_Silent_p.S14S	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	14										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				GTAACAAATCGGCAAATGTTC	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	84	84			NA	NA	10		NA											NA				32740612		2203	4300	6503	SO:0001819	synonymous_variant			BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937	79741	79741			26533	protein-coding gene	gene with protein product			chromosome 10 open reading frame 68	C10orf68	NA	12477932	Standard	NM_145023	NM_024688	NA	Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.42G>A	10.37:g.32740612G>A		NA	Q5VW55|Q8IVQ0|Q8NEQ0	37	CCDS7173.1																																																																																			CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047490.1		+	ENST00000362006.5	Silent	SNP	10 : 32740612 - 32740612 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	393	61
CHST4	10164	broad.mit.edu	37	16	71570744	71570744	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr16:71570744C>T	ENST00000338482.5	+	3	507	c.164C>T	c.(163-165)tCt>tTt	p.S55F	CHST4_ENST00000572450.1_Missense_Mutation_p.S55F|CHST4_ENST00000539698.3_Missense_Mutation_p.S55F|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	55					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CGCTCTGGCTCTTCTTTTGTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	121	123			NA	NA	16		NA											NA				71570744		2198	4300	6498	SO:0001583	missense			AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835	10164	10164		Sulfotransferases, membrane-bound	1972	protein-coding gene	gene with protein product					NA	10330415	Standard	NM_005769	NM_001166395	NA	Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.164C>T	16.37:g.71570744C>T	ENSP00000341206:p.Ser55Phe	NA	Q8IV46|Q9Y5R3	37	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.007182	0.93287	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.84298	-1.83;-1.83	6.0	6.0	0.97389	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.94798	0.8320	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95535	0.8607	10	0.87932	D	0	-16.064	17.9887	0.89162	0.0:1.0:0.0:0.0	.	55	Q8NCG5	CHST4_HUMAN	F	55	ENSP00000341206:S55F;ENSP00000441204:S55F	ENSP00000341206:S55F	S	+	2	0	CHST4	70128245	1.000000	0.71417	0.960000	0.40013	0.968000	0.65278	7.794000	0.85869	2.848000	0.98002	0.655000	0.94253	TCT	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268992.4		+	ENST00000338482.5	Missense_Mutation	SNP	16 : 71570744 - 71570744 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	550	39
COL11A1	1301	broad.mit.edu	37	1	103453235	103453235	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:103453235G>C	ENST00000370096.3	-	30	2768	c.2456C>G	c.(2455-2457)gCa>gGa	p.A819G	COL11A1_ENST00000358392.2_Missense_Mutation_p.A831G|COL11A1_ENST00000512756.1_Missense_Mutation_p.A703G|COL11A1_ENST00000353414.4_Missense_Mutation_p.A780G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	819	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGTTGGGCCTGCTCGACCTTT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	87	89			NA	NA	1		NA											NA				103453235		2203	4300	6503	SO:0001583	missense			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718	1301	1301		Collagens	2186	protein-coding gene	gene with protein product	collagen XI, alpha-1 polypeptide	120280		COLL6	NA	3182841	Standard	NM_080630	NM_080630	NA	Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2456C>G	1.37:g.103453235G>C	ENSP00000359114:p.Ala819Gly	NA	B1ASK7|D3DT73|Q14034|Q9UIT4|Q9UIT5|Q9UIT6	37	CCDS778.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.34|11.34	1.608907|1.608907	0.28623|0.28623	.|.	.|.	ENSG00000060718|ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756|ENST00000370090	D;D;D;D|.	0.83755|.	-1.76;-1.76;-1.76;-1.76|.	4.39|4.39	4.39|4.39	0.52855|0.52855	.|.	0.140030|.	0.47455|.	D|.	0.000236|.	T|T	0.37758|0.37758	0.1015|0.1015	N|N	0.25332|0.25332	0.735|0.735	0.48511|0.48511	D|D	0.999661|0.999661	B;B;B;B|B	0.25441|0.13145	0.126;0.073;0.073;0.043|0.007	B;B;B;B|B	0.28784|0.14023	0.094;0.088;0.088;0.04|0.01	T|T	0.24261|0.24261	-1.0165|-1.0165	10|8	0.22706|0.39692	T|T	0.39|0.17	.|.	17.507|17.507	0.87748|0.87748	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	703;780;831;819|34	E9PCU0;P12107-3;P12107-2;P12107|F5H5Z5	.;.;.;COBA1_HUMAN|.	G|E	819;831;780;703|34	ENSP00000359114:A819G;ENSP00000351163:A831G;ENSP00000302551:A780G;ENSP00000426533:A703G|.	ENSP00000302551:A780G|ENSP00000359108:Q34E	A|Q	-|-	2|1	0|0	COL11A1|COL11A1	103225823|103225823	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.751000|0.751000	0.42716|0.42716	7.157000|7.157000	0.77461|0.77461	2.417000|2.417000	0.82017|0.82017	0.460000|0.460000	0.39030|0.39030	GCA|CAG	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029997.1		-	ENST00000370096.3	Missense_Mutation	SNP	1 : 103453235 - 103453235 C PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	432	30
CPSF3L	54973	broad.mit.edu	37	1	1254756	1254756	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:1254756C>T	ENST00000435064.1	-	4	431	c.349G>A	c.(349-351)Gag>Aag	p.E117K	CPSF3L_ENST00000545578.1_Missense_Mutation_p.E88K|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000540437.1_Missense_Mutation_p.E123K|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000450926.2_Missense_Mutation_p.E117K	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	117						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		AAGTTGGCCTCGCCCTTCTTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	184	190			NA	NA	1		NA											NA				1254756		2203	4300	6503	SO:0001583	missense			AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054	54973	54973			26052	protein-coding gene	gene with protein product	integrator complex subunit 11	611354			NA	15684398, 16239144	Standard	NM_017871	NM_001256456	NA	Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.349G>A	1.37:g.1254756C>T	ENSP00000413493:p.Glu117Lys	NA	Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	37	CCDS21.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371699	0.82573	.	.	ENSG00000127054	ENST00000435064;ENST00000294579;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000527719;ENST00000530031;ENST00000534345	T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.85;0.8;0.87;0.86;0.8	4.61	4.61	0.57282	Beta-lactamase-like (2);	0.112509	0.64402	D	0.000012	T	0.56804	0.2010	L	0.55017	1.72	0.80722	D	1	P;D;P;P	0.64830	0.541;0.994;0.541;0.596	B;P;B;B	0.62491	0.197;0.903;0.197;0.201	T	0.53165	-0.8477	10	0.02654	T	1	-40.1331	17.6427	0.88141	0.0:1.0:0.0:0.0	.	117;136;123;117	Q5TA45-3;Q5TA51;G3V1S5;Q5TA45	.;.;.;INT11_HUMAN	K	117;129;123;117;88;117;123;164;118	ENSP00000413493:E117K;ENSP00000445001:E123K;ENSP00000392848:E117K;ENSP00000444672:E88K;ENSP00000411233:E117K;ENSP00000436743:E123K;ENSP00000432009:E164K;ENSP00000435772:E118K	ENSP00000294579:E129K	E	-	1	0	CPSF3L	1244619	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.580000	0.82523	2.399000	0.81585	0.561000	0.74099	GAG	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009360.2		-	ENST00000435064.1	Missense_Mutation	SNP	1 : 1254756 - 1254756 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	1149	215
CSMD3	114788	broad.mit.edu	37	8	113697836	113697836	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr8:113697836G>A	ENST00000297405.5	-	15	2525	c.2281C>T	c.(2281-2283)Ctt>Ttt	p.L761F	CSMD3_ENST00000455883.2_Missense_Mutation_p.L657F|CSMD3_ENST00000352409.3_Missense_Mutation_p.L761F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L721F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	761	CUB 4.					integral to membrane|plasma membrane		p.L721V(2)|p.L761V(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGAAAGAAAGATGTATCCGG	0.428		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				4	Substitution - Missense(4)	lung(4)											103	110	107			NA	NA	8		NA											NA				113697836		2203	4300	6503	SO:0001583	missense			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796	114788	114788			19291	protein-coding gene	gene with protein product		608399			NA		Standard	NM_052900	NM_052900	NA	Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2281C>T	8.37:g.113697836G>A	ENSP00000297405:p.Leu761Phe	NA	Q96PZ3	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921663	0.73213	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	5.96	5.09	0.68999	CUB (5);	0.000000	0.64402	D	0.000009	T	0.64670	0.2619	M	0.86420	2.815	0.34498	D	0.705682	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.77381	-0.2609	10	0.40728	T	0.16	.	15.1353	0.72558	0.0675:0.0:0.9325:0.0	.	657;761;721	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	721;761;101;657;761	ENSP00000345799:L721F;ENSP00000297405:L761F;ENSP00000341558:L101F;ENSP00000412263:L657F;ENSP00000343124:L761F	ENSP00000297405:L761F	L	-	1	0	CSMD3	113767012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.552000	0.73914	1.535000	0.49220	0.655000	0.94253	CTT	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347141.1		-	ENST00000297405.5	Missense_Mutation	SNP	8 : 113697836 - 113697836 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	596	44
DCHS1	8642	broad.mit.edu	37	11	6650981	6650981	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:6650981C>G	ENST00000299441.3	-	11	5368	c.4957G>C	c.(4957-4959)Gag>Cag	p.E1653Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1653	Cadherin 16.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGCTGTACTCCTGCTGCTGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	41	41			NA	NA	11		NA											NA				6650981		2201	4296	6497	SO:0001583	missense			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341	8642	8642		Cadherins / Cadherin-related	13681	protein-coding gene	gene with protein product	cadherin-related family member 6	603057	protocadherin 16, dachsous 1 (Drosophila)	CDH25, PCDH16	NA	9199196	Standard	NM_003737	XM_005253207	NA	Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.4957G>C	11.37:g.6650981C>G	ENSP00000299441:p.Glu1653Gln	NA	O15098	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	6.206	0.406103	0.11754	.	.	ENSG00000166341	ENST00000299441	T	0.03212	4.01	5.25	5.25	0.73442	Cadherin (2);Cadherin-like (1);	0.136757	0.33144	N	0.005227	T	0.03348	0.0097	N	0.17723	0.515	0.37504	D	0.916866	B	0.22346	0.068	B	0.13407	0.009	T	0.51965	-0.8638	10	0.12766	T	0.61	.	18.0234	0.89261	0.0:1.0:0.0:0.0	.	1653	Q96JQ0	PCD16_HUMAN	Q	1653	ENSP00000299441:E1653Q	ENSP00000299441:E1653Q	E	-	1	0	DCHS1	6607557	0.027000	0.19231	1.000000	0.80357	0.045000	0.14185	2.816000	0.48026	2.744000	0.94065	0.563000	0.77884	GAG	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257258.1		-	ENST00000299441.3	Missense_Mutation	SNP	11 : 6650981 - 6650981 G PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	202	28
DHRSX	207063	broad.mit.edu	37	X	2161133	2161133	+	Silent	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chrX:2161133C>T	ENST00000334651.5	-	6	787	c.735G>A	c.(733-735)acG>acA	p.T245T		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	245							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGTAGACGTCCGTGTTGACCA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	103	106			NA	NA	X		NA											NA				2161133		2203	4296	6499	SO:0001819	synonymous_variant			AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084	207063	207063		Pseudoautosomal regions / PAR1	18399	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 7C, member 6, short chain dehydrogenase/reductase family 46C, member 1, dehydrogenase/reductase (SDR family) Y-linked		dehydrogenase/reductase (SDR family) X chromosome		NA	11731500, 19027726	Standard	NM_145177	NM_145177	NA	Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.735G>A	X.37:g.2161133C>T		NA	Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	37	CCDS35195.1																																																																																			DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055617.3		-	ENST00000334651.5	Silent	SNP	X : 2161133 - 2161133 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	324	21
DHX8	1659	broad.mit.edu	37	17	41566830	41566830	+	Silent	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr17:41566830C>T	ENST00000262415.3	+	2	234	c.162C>T	c.(160-162)atC>atT	p.I54I	DHX8_ENST00000540306.1_Silent_p.I54I	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	54						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AATTTGTGATCAGTCTTGCTG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(56;1548 1661 49258 49987)							NA				0													100	104	103			NA	NA	17		NA											NA				41566830		2202	4300	6502	SO:0001819	synonymous_variant			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596	1659	1659		DEAH-boxes	2749	protein-coding gene	gene with protein product		600396	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)	DDX8	NA	7935475	Standard		NM_004941	NA	Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.162C>T	17.37:g.41566830C>T		NA		37	CCDS11464.1																																																																																			DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453485.1		+	ENST00000262415.3	Silent	SNP	17 : 41566830 - 41566830 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	546	59
DSCAML1	57453	broad.mit.edu	37	11	117307888	117307888	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:117307888G>A	ENST00000321322.6	-	26	4851	c.4850C>T	c.(4849-4851)gCg>gTg	p.A1617V	DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1347V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1557					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCCGCAGCCCGCACTGTTGCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	86	89			NA	NA	11		NA											NA				117307888		2201	4296	6497	SO:0001583	missense				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103	57453	57453		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	14656	protein-coding gene	gene with protein product		611782			NA	11453658	Standard	NM_020693	NM_020693	NA	Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4850C>T	11.37:g.117307888G>A	ENSP00000315465:p.Ala1617Val	NA	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639853	0.67244	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.56611	0.45;0.45	4.1	4.1	0.47936	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73916	0.3648	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79507	-0.1775	9	0.87932	D	0	.	16.9031	0.86118	0.0:0.0:1.0:0.0	.	1557	Q8TD84	DSCL1_HUMAN	V	1347;1617;1324	ENSP00000434335:A1347V;ENSP00000315465:A1617V	ENSP00000315465:A1617V	A	-	2	0	DSCAML1	116813098	1.000000	0.71417	0.952000	0.39060	0.376000	0.30014	7.807000	0.86032	2.286000	0.76751	0.655000	0.94253	GCG	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392907.2		-	ENST00000321322.6	Missense_Mutation	SNP	11 : 117307888 - 117307888 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	440	32
DYSF	8291	broad.mit.edu	37	2	71896785	71896785	+	Missense_Mutation	SNP	G	G	A	rs143939123		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr2:71896785G>A	ENST00000258104.3	+	50	5853	c.5576G>A	c.(5575-5577)cGt>cAt	p.R1859H	DYSF_ENST00000413539.2_Missense_Mutation_p.R1890H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1876H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.R1881H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1867H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1860H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1897H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1891H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1898H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1880H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1877H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1859						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.R1859H(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTGCATTATCGTTCCCTGGGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)						G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	219	182	194		5579,5534,5597,5639,5669,5627,5690,5672,5642,5600,5630,5537,5693,5576	4.9	1	2	dbSNP_134	194	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	29,29,29,29,29,29,29,29,29,29,29,29,29,29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1860/2082,1845/2067,1866/2088,1880/2102,1890/2112,1876/2098,1897/2119,1891/2113,1881/2103,1867/2089,1877/2099,1846/2068,1898/2120,1859/2081	71896785	1,13005	2203	4300	6503	SO:0001583	missense			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636	8291	8291			3097	protein-coding gene	gene with protein product	fer-1-like family member 1	603009	limb girdle muscular dystrophy 2B (autosomal recessive)	LGMD2B	NA	8320700	Standard	NM_003494	NM_003494	NA	Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5576G>A	2.37:g.71896785G>A	ENSP00000258104:p.Arg1859His	NA	B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831448	0.91036	0.0	1.16E-4	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75	4.87	4.87	0.63330	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.098372	0.64402	D	0.000003	D	0.95294	0.8473	M	0.84433	2.695	0.52099	D	0.999946	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D	0.89917	0.999;0.999;0.999;0.996;0.996;1.0;1.0;1.0;0.977;0.999;0.973;0.614;0.996;0.996;0.999	D;P;D;P;P;D;D;D;P;D;P;B;P;P;D	0.72338	0.967;0.897;0.91;0.897;0.852;0.977;0.977;0.977;0.476;0.938;0.606;0.228;0.897;0.897;0.938	D	0.94569	0.7769	10	0.40728	T	0.16	-26.1585	15.8904	0.79293	0.0:0.0:1.0:0.0	.	623;1891;1898;1881;1846;1877;1867;1876;1866;1890;1897;1880;1845;1860;1859	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	1890;1876;1897;1880;1859;1891;1860;1867;1881;1898;1877	ENSP00000407046:R1890H;ENSP00000387137:R1876H;ENSP00000386547:R1897H;ENSP00000398305:R1880H;ENSP00000258104:R1859H;ENSP00000386683:R1891H;ENSP00000377678:R1860H;ENSP00000386285:R1867H;ENSP00000386512:R1881H;ENSP00000386881:R1898H;ENSP00000386617:R1877H	ENSP00000258104:R1859H	R	+	2	0	DYSF	71750293	1.000000	0.71417	0.990000	0.47175	0.912000	0.54170	9.492000	0.97957	2.698000	0.92095	0.655000	0.94253	CGT	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251970.3		+	ENST00000258104.3	Missense_Mutation	SNP	2 : 71896785 - 71896785 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	576	49
F5	2153	broad.mit.edu	37	1	169528443	169528443	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:169528443C>A	ENST00000367796.3	-	5	879	c.678G>T	c.(676-678)caG>caT	p.Q226H	F5_ENST00000546081.1_Missense_Mutation_p.Q89H|F5_ENST00000367797.3_Missense_Mutation_p.Q226H			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	226	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGGATGATGACTGGCTCCAGC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	139	151			NA	NA	1		NA											NA				169528443		2203	4300	6503	SO:0001583	missense			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734	2153	2153			3542	protein-coding gene	gene with protein product		612309			NA		Standard	NM_000130	NM_000130	NA	Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367796.3:c.678G>T	1.37:g.169528443C>A	ENSP00000356770:p.Gln226His	NA	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	37		.	.	.	.	.	.	.	.	.	.	C	12.34	1.909285	0.33721	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99758	-6.65;-6.65;-6.65	5.95	-2.03	0.07365	Cupredoxin (2);	1.478620	0.03581	N	0.230089	D	0.98128	0.9382	M	0.72118	2.19	0.32970	D	0.522265	P	0.38642	0.641	B	0.38500	0.275	D	0.99973	1.2094	9	0.41790	T	0.15	0.4292	0.4687	0.00528	0.2015:0.285:0.1978:0.3157	.	226	P12259	FA5_HUMAN	H	226;226;89	ENSP00000356771:Q226H;ENSP00000356770:Q226H;ENSP00000439664:Q89H	ENSP00000356770:Q226H	Q	-	3	2	F5	167795067	0.000000	0.05858	0.010000	0.14722	0.944000	0.59088	-0.983000	0.03759	-0.366000	0.08064	0.650000	0.86243	CAG	F5-002	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000083713.1		-	ENST00000367796.3	Missense_Mutation	SNP	1 : 169528443 - 169528443 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	564	83
FAT2	2196	broad.mit.edu	37	5	150907687	150907687	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr5:150907687G>A	ENST00000261800.5	-	15	10046	c.10034C>T	c.(10033-10035)gCg>gTg	p.A3345V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3345	Cadherin 30.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCATCAGTCGCTGATACCTG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	95	97			NA	NA	5		NA											NA				150907687		2203	4300	6503	SO:0001583	missense			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570	2196	2196		Cadherins / Cadherin-related	3596	protein-coding gene	gene with protein product	cadherin-related family member 9	604269	FAT tumor suppressor (Drosophila) homolog 2, FAT tumor suppressor homolog 2 (Drosophila)		NA	9693030	Standard	NM_001447	NM_001447	NA	Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10034C>T	5.37:g.150907687G>A	ENSP00000261800:p.Ala3345Val	NA	O75091|Q9NSR7	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026947	0.93518	.	.	ENSG00000086570	ENST00000261800	T	0.59364	0.27	5.73	5.73	0.89815	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000004	T	0.77824	0.4188	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78917	-0.2015	10	0.72032	D	0.01	.	19.9191	0.97079	0.0:0.0:1.0:0.0	.	3345;536	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	V	3345	ENSP00000261800:A3345V	ENSP00000261800:A3345V	A	-	2	0	FAT2	150887880	1.000000	0.71417	0.917000	0.36280	0.778000	0.44026	9.067000	0.93955	2.707000	0.92482	0.643000	0.83706	GCG	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252434.1		-	ENST00000261800.5	Missense_Mutation	SNP	5 : 150907687 - 150907687 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	577	105
FGD3	89846	broad.mit.edu	37	9	95773521	95773521	+	Silent	SNP	C	C	T	rs140324424	by1000genomes	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr9:95773521C>T	ENST00000375482.3	+	8	1498	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A	FGD3_ENST00000337352.6_Silent_p.A334A|FGD3_ENST00000416701.2_Silent_p.A334A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	334	DH.				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|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.A334A(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TCTCCACAGCCGCCAACCACT	0.632		NA											c	2	9e-04	0.0041	NA	2184	NA	0.9997	,	,	NA	3e-04	NA	NA	NA	0.0011	0.8582	LOWCOV,EXOME	NA	NA	0.004	SNP								NA				2	Substitution - coding silent(2)	lung(2)						C	,	5,4207		0,5,2101	64	77	73		1002,1002	-4.6	0.9	9	dbSNP_134	73	1,8503		0,1,4251	no	coding-synonymous,coding-synonymous	FGD3	NM_001083536.1,NM_033086.2	,	0,6,6352	TT,TC,CC	NA	0.0118,0.1187,0.0472	,	334/726,334/726	95773521	6,12710	2106	4252	6358	SO:0001819	synonymous_variant			AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084	89846	89846		Zinc fingers, FYVE domain containing, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	16027	protein-coding gene	gene with protein product			FGD1 family, member 3		NA	11214971	Standard	NM_033086	NM_001083536	NA	Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1002C>T	9.37:g.95773521C>T		NA	Q4VX84|Q7Z7D9|Q8N5G1	37	CCDS43849.1																																																																																			FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055493.1		+	ENST00000375482.3	Silent	SNP	9 : 95773521 - 95773521 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	554	36
FLT4	2324	broad.mit.edu	37	5	180039570	180039570	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr5:180039570G>A	ENST00000261937.6	-	26	3551	c.3473C>T	c.(3472-3474)gCg>gTg	p.A1158V	FLT4_ENST00000393347.3_Missense_Mutation_p.A1158V|FLT4_ENST00000502649.1_Missense_Mutation_p.A1158V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1158	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGCAGGTCTCGCCTTGGGGTC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(97;1075 1466 27033 27547 35871)							NA				0													80	82	81			NA	NA	5		NA											NA				180039570		2203	4300	6503	SO:0001583	missense			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2324	2324	2.7.10.1	Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	3767	protein-coding gene	gene with protein product		136352			NA	1319394	Standard		NM_002020	NA	Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3473C>T	5.37:g.180039570G>A	ENSP00000261937:p.Ala1158Val	NA	Q16067|Q86W07	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	g	15.17	2.754723	0.49362	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	D;D;D	0.83075	-1.68;-1.68;-1.68	3.57	1.45	0.22620	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.70701	0.3254	N	0.16862	0.45	0.33893	D	0.637638	B;B	0.32203	0.36;0.36	B;B	0.34824	0.19;0.19	T	0.74365	-0.3689	9	0.56958	D	0.05	.	10.3063	0.43683	0.0:0.0:0.301:0.699	.	1158;1158	E9PD35;P35916	.;VGFR3_HUMAN	V	1158	ENSP00000261937:A1158V;ENSP00000377016:A1158V;ENSP00000426057:A1158V	ENSP00000261937:A1158V	A	-	2	0	FLT4	179972176	0.999000	0.42202	0.974000	0.42286	0.708000	0.40852	2.991000	0.49409	0.774000	0.33427	0.457000	0.33378	GCG	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253527.4		-	ENST00000261937.6	Missense_Mutation	SNP	5 : 180039570 - 180039570 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	613	115
FRMPD1	22844	broad.mit.edu	37	9	37746200	37746200	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr9:37746200G>A	ENST00000539465.1	+	16	4764	c.4171G>A	c.(4171-4173)Gca>Aca	p.A1391T	FRMPD1_ENST00000377765.3_Missense_Mutation_p.A1391T|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1391						cytoskeleton|cytosol|plasma membrane		p.A1391T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTGCACCACCGCACCCCTGTC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	kidney(1)											31	37	35			NA	NA	9		NA											NA				37746200		2203	4300	6503	SO:0001583	missense			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601	22844	22844			29159	protein-coding gene	gene with protein product					NA	10231032	Standard	NM_014907	NM_014907	NA	Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4171G>A	9.37:g.37746200G>A	ENSP00000444411:p.Ala1391Thr	NA	D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	1.279	-0.610757	0.03690	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06608	3.28;3.28	5.3	4.39	0.52855	.	1.000500	0.08067	N	0.999257	T	0.03305	0.0096	N	0.08118	0	0.19575	N	0.999967	B	0.27679	0.185	B	0.17722	0.019	T	0.35375	-0.9791	10	0.17832	T	0.49	-1.3239	6.7298	0.23377	0.0936:0.1812:0.7251:0.0	.	1391	Q5SYB0	FRPD1_HUMAN	T	1391	ENSP00000366995:A1391T;ENSP00000444411:A1391T	ENSP00000366995:A1391T	A	+	1	0	FRMPD1	37736200	0.008000	0.16893	0.010000	0.14722	0.003000	0.03518	1.688000	0.37690	2.475000	0.83589	0.655000	0.94253	GCA	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402969.1		+	ENST00000539465.1	Missense_Mutation	SNP	9 : 37746200 - 37746200 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	385	21
GFER	2671	broad.mit.edu	37	16	2034871	2034871	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr16:2034871G>T	ENST00000248114.6	+	2	388	c.382G>T	c.(382-384)Gac>Tac	p.D128Y	GFER_ENST00000567719.1_Missense_Mutation_p.D53Y|GFER_ENST00000569451.1_Intron	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	128	ERV/ALR sulfhydryl oxidase.				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity			endometrium(1)|large_intestine(1)|lung(3)	5						ACAGCAGCAAGACATGGCCCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	108	109			NA	NA	16		NA											NA				2034871		2198	4300	6498	SO:0001583	missense			BC002429	CCDS32368.1	16p13.3-p13.12	2011-06-22	2008-08-01		ENSG00000127554	ENSG00000127554	2671	2671			4236	protein-coding gene	gene with protein product	ERV1 homolog (S. cerevisiae)	600924	growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration)		NA	8575761	Standard	NM_005262	NM_005262	NA	Approved	HSS, ERV1, ALR, HERV1, HPO1, HPO2	uc002cob.3	P55789		ENST00000248114.6:c.382G>T	16.37:g.2034871G>T	ENSP00000248114:p.Asp128Tyr	NA	Q8TAH6|Q9H290|Q9UK40	37	CCDS32368.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125726	0.94429	.	.	ENSG00000127554	ENST00000248114;ENST00000425414	T	0.64991	-0.13	4.52	4.52	0.55395	Erv1/Alr (3);ERV/ALR sulphydryl oxidase (1);	0.050318	0.85682	D	0.000000	T	0.71264	0.3319	M	0.83483	2.645	0.58432	D	0.999999	P;P	0.46064	0.85;0.872	B;P	0.46237	0.258;0.508	T	0.78881	-0.2029	10	0.87932	D	0	-26.419	16.3969	0.83610	0.0:0.0:1.0:0.0	.	54;128	Q9UQK8;P55789	.;ALR_HUMAN	Y	128;48	ENSP00000248114:D128Y	ENSP00000248114:D128Y	D	+	1	0	GFER	1974872	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.026000	0.93700	2.330000	0.79161	0.609000	0.83330	GAC	GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434243.1		+	ENST00000248114.6	Missense_Mutation	SNP	16 : 2034871 - 2034871 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	516	38
GNL3	26354	broad.mit.edu	37	3	52726994	52726994	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr3:52726994G>T	ENST00000394799.2	+	10	1150	c.940G>T	c.(940-942)Gca>Tca	p.A314S	GNL3_ENST00000418458.1_Missense_Mutation_p.A326S	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	326	G.|Intermediate (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GCGAAGTCCAGCAAGTATTGA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	101	104			NA	NA	3		NA											NA				52726994		2203	4300	6503	SO:0001583	missense			AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938	26354	26354			29931	protein-coding gene	gene with protein product		608011			NA	11085516, 12464630	Standard	NM_014366	NM_014366	NA	Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000394799.2:c.940G>T	3.37:g.52726994G>T	ENSP00000378278:p.Ala314Ser	NA	B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	37	CCDS43100.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861848	0.51482	.	.	ENSG00000163938	ENST00000418458;ENST00000394799	T;T	0.17528	2.27;2.27	5.91	3.9	0.45041	GTP-binding domain, HSR1-related (1);	0.620210	0.18874	N	0.128751	T	0.08670	0.0215	N	0.11201	0.11	0.36331	D	0.858845	B	0.15141	0.012	B	0.22152	0.038	T	0.11372	-1.0590	10	0.56958	D	0.05	.	4.4031	0.11397	0.3619:0.0:0.6381:0.0	.	326	Q9BVP2	GNL3_HUMAN	S	326;314	ENSP00000395772:A326S;ENSP00000378278:A314S	ENSP00000378278:A314S	A	+	1	0	GNL3	52702034	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.643000	0.54374	1.505000	0.48720	0.650000	0.86243	GCA	GNL3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352033.1		+	ENST00000394799.2	Missense_Mutation	SNP	3 : 52726994 - 52726994 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	416	41
GNL3	26354	broad.mit.edu	37	3	52726995	52726995	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr3:52726995C>T	ENST00000394799.2	+	10	1151	c.941C>T	c.(940-942)gCa>gTa	p.A314V	GNL3_ENST00000418458.1_Missense_Mutation_p.A326V	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	326	G.|Intermediate (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		CGAAGTCCAGCAAGTATTGAA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	101	103			NA	NA	3		NA											NA				52726995		2203	4300	6503	SO:0001583	missense			AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938	26354	26354			29931	protein-coding gene	gene with protein product		608011			NA	11085516, 12464630	Standard	NM_014366	NM_014366	NA	Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000394799.2:c.941C>T	3.37:g.52726995C>T	ENSP00000378278:p.Ala314Val	NA	B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	37	CCDS43100.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644836	0.47258	.	.	ENSG00000163938	ENST00000418458;ENST00000394799	T;T	0.14022	2.54;2.55	5.91	4.12	0.48240	GTP-binding domain, HSR1-related (1);	0.620210	0.18874	N	0.128751	T	0.03827	0.0108	N	0.01473	-0.845	0.37907	D	0.931235	B	0.02656	0.0	B	0.06405	0.002	T	0.26503	-1.0101	10	0.02654	T	1	.	8.4252	0.32725	0.0:0.7647:0.0:0.2353	.	326	Q9BVP2	GNL3_HUMAN	V	326;314	ENSP00000395772:A326V;ENSP00000378278:A314V	ENSP00000378278:A314V	A	+	2	0	GNL3	52702035	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.211000	0.32382	1.509000	0.48786	0.650000	0.86243	GCA	GNL3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352033.1		+	ENST00000394799.2	Missense_Mutation	SNP	3 : 52726995 - 52726995 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	410	40
GPM6B	2824	broad.mit.edu	37	X	13803924	13803924	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chrX:13803924C>T	ENST00000454189.2	-	2	135	c.8G>A	c.(7-9)tGc>tAc	p.C3Y	GPM6B_ENST00000398361.3_5'UTR|GPM6B_ENST00000316715.4_Missense_Mutation_p.C62Y|GPM6B_ENST00000493677.1_Missense_Mutation_p.C36Y|GPM6B_ENST00000355135.2_Missense_Mutation_p.C62Y|GPM6B_ENST00000356942.5_Missense_Mutation_p.C22Y	NM_001001994.1	NP_001001994.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	22					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						GCATTCAAAGCAGCCTGAACC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	35	37			NA	NA	X		NA											NA				13803924		2203	4300	6503	SO:0001583	missense				CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1	Xp22.2	2010-08-03			ENSG00000046653	ENSG00000046653	2824	2824			4461	protein-coding gene	gene with protein product		300051			NA	8661015	Standard	NM_001001995	NM_001001995	NA	Approved	M6B, MGC17150, MGC54284	uc004cvw.3	Q13491	OTTHUMG00000021162	ENST00000454189.2:c.8G>A	X.37:g.13803924C>T	ENSP00000389915:p.Cys3Tyr	NA	O76077|Q86X43	37	CCDS48084.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434116	0.83776	.	.	ENSG00000046653	ENST00000316715;ENST00000454189;ENST00000493677;ENST00000355135;ENST00000356942;ENST00000475307	D;D;D;D;D;D	0.99245	-5.62;-5.62;-5.62;-5.62;-5.62;-5.62	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.99450	0.9805	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.999	D	0.98897	1.0775	10	0.87932	D	0	-0.0619	18.8027	0.92025	0.0:1.0:0.0:0.0	.	36;3;22;62;14;62	B7Z613;Q13491-2;Q13491;Q13491-3;Q59FD5;Q8N956	.;.;GPM6B_HUMAN;.;.;.	Y	62;3;36;62;22;22	ENSP00000316861:C62Y;ENSP00000389915:C3Y;ENSP00000419904:C36Y;ENSP00000347258:C62Y;ENSP00000349420:C22Y;ENSP00000418594:C22Y	ENSP00000316861:C62Y	C	-	2	0	GPM6B	13713845	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.350000	0.79385	2.387000	0.81309	0.600000	0.82982	TGC	GPM6B-001	KNOWN	not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055821.3		-	ENST00000454189.2	Missense_Mutation	SNP	X : 13803924 - 13803924 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	133	19
HERC2	8924	broad.mit.edu	37	15	28459392	28459392	+	Missense_Mutation	SNP	G	G	A	rs138059246	byFrequency	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr15:28459392G>A	ENST00000261609.7	-	41	6493	c.6385C>T	c.(6385-6387)Cgc>Tgc	p.R2129C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2129					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCTGCGGGCGCACCCTGCGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	26	25			NA	NA	15		NA											NA				28459392		2195	4292	6487	SO:0001583	missense			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	8924	8924			4868	protein-coding gene	gene with protein product		605837	hect domain and RLD 2		NA	9949213	Standard	NM_004667	NM_004667	NA	Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6385C>T	15.37:g.28459392G>A	ENSP00000261609:p.Arg2129Cys	NA	Q86SV7|Q86SV8|Q86SV9|Q86YY3|Q86YY4|Q86YY5|Q86YY6|Q86YY7|Q86YY8|Q86YY9|Q86YZ0|Q86YZ1	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.944883	0.53079	.	.	ENSG00000128731	ENST00000261609	T	0.41400	1.0	4.75	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.53594	0.1806	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.55866	-0.8073	10	0.72032	D	0.01	.	12.4051	0.55434	0.0:0.0:0.7652:0.2348	.	2129	O95714	HERC2_HUMAN	C	2129	ENSP00000261609:R2129C	ENSP00000261609:R2129C	R	-	1	0	HERC2	26132987	1.000000	0.71417	0.956000	0.39512	0.126000	0.20510	3.130000	0.50508	2.461000	0.83175	0.484000	0.47621	CGC	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251358.2		-	ENST00000261609.7	Missense_Mutation	SNP	15 : 28459392 - 28459392 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	214	8
KCNB2	9312	broad.mit.edu	37	8	73480175	73480175	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr8:73480175C>A	ENST00000523207.1	+	2	794	c.206C>A	c.(205-207)aCa>aAa	p.T69K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	69					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GACTGCAACACACACGAGAGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	79	79			NA	NA	8		NA											NA				73480175		2203	4300	6503	SO:0001583	missense			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674	9312	9312		Potassium channels, Voltage-gated ion channels / Potassium channels	6232	protein-coding gene	gene with protein product		607738			NA	9612272, 16382104	Standard	NM_004770	NM_004770	NA	Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.206C>A	8.37:g.73480175C>A	ENSP00000430846:p.Thr69Lys	NA	Q7Z7D0|Q9BXD3	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562910	0.86335	.	.	ENSG00000182674	ENST00000523207	D	0.97041	-4.22	5.71	3.79	0.43588	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.470461	0.15701	U	0.248917	D	0.97235	0.9096	L	0.43598	1.365	0.47905	D	0.999541	P	0.47677	0.899	P	0.60012	0.867	D	0.97404	0.9998	10	0.87932	D	0	.	15.8203	0.78633	0.0:0.7433:0.2567:0.0	.	69	Q92953	KCNB2_HUMAN	K	69	ENSP00000430846:T69K	ENSP00000430846:T69K	T	+	2	0	KCNB2	73642729	0.998000	0.40836	0.971000	0.41717	0.997000	0.91878	3.977000	0.56874	1.404000	0.46819	0.655000	0.94253	ACA	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378998.1		+	ENST00000523207.1	Missense_Mutation	SNP	8 : 73480175 - 73480175 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	521	51
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	140	44
KRT37	8688	broad.mit.edu	37	17	39577780	39577780	+	Silent	SNP	G	G	C			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr17:39577780G>C	ENST00000225550.3	-	6	1079	c.1080C>G	c.(1078-1080)gcC>gcG	p.A360A	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	360	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TCTGCATCTGGGCCAGCTCTG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	64	65			NA	NA	17		NA											NA				39577780		2203	4300	6503	SO:0001819	synonymous_variant			Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417	8688	8688		-, Intermediate filaments type I, keratins (acidic)	6455	protein-coding gene	gene with protein product		604541	keratin, hair, acidic, 7	KRTHA7	NA	9756910, 16831889	Standard	NM_003770	NM_003770	NA	Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.1080C>G	17.37:g.39577780G>C		NA		37	CCDS32653.1																																																																																			KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257714.2		-	ENST00000225550.3	Silent	SNP	17 : 39577780 - 39577780 C PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	259	42
LTN1	26046	broad.mit.edu	37	21	30339377	30339377	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr21:30339377G>A	ENST00000389195.2	-	10	1579	c.1574C>T	c.(1573-1575)aCa>aTa	p.T525I	LTN1_ENST00000389194.2_Missense_Mutation_p.T525I|LTN1_ENST00000361371.5_Missense_Mutation_p.T479I			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	479							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GTTGTGAGCTGTTTTTTCATC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	168	176			NA	NA	21		NA											NA				30339377		2203	4300	6503	SO:0001583	missense			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862	26046	26046		RING-type (C3HC4) zinc fingers	13082	protein-coding gene	gene with protein product	listerin	613083	chromosome 21 open reading frame 98, zinc finger protein 294, ring finger protein 160	C21orf98, C21orf10, ZNF294, RNF160	NA	20835226, 19196968	Standard	NM_015565	NM_015565	NA	Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000389195.2:c.1574C>T	21.37:g.30339377G>A	ENSP00000373847:p.Thr525Ile	NA	A6NL41|A7E2D0|B2RTS0|C9J7U3|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	37		.	.	.	.	.	.	.	.	.	.	G	5.755	0.323667	0.10900	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000389195	T;T;T	0.23348	2.26;2.27;1.91	5.02	-3.42	0.04825	Armadillo-type fold (1);	1.216900	0.05443	N	0.548099	T	0.18964	0.0455	L	0.27053	0.805	0.09310	N	1	B	0.20887	0.049	B	0.16722	0.016	T	0.32771	-0.9894	10	0.34782	T	0.22	.	12.9181	0.58216	0.5817:0.0:0.4183:0.0	.	479	O94822	LTN1_HUMAN	I	525;479;525	ENSP00000373846:T525I;ENSP00000354977:T479I;ENSP00000373847:T525I	ENSP00000354977:T479I	T	-	2	0	LTN1	29261248	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	-0.016000	0.12613	-0.604000	0.05760	-0.806000	0.03193	ACA	LTN1-002	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000171852.1		-	ENST00000389195.2	Missense_Mutation	SNP	21 : 30339377 - 30339377 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	708	57
MEGF6	1953	broad.mit.edu	37	1	3422767	3422767	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:3422767C>T	ENST00000356575.4	-	15	2049	c.1823G>A	c.(1822-1824)cGc>cAc	p.R608H	MEGF6_ENST00000294599.4_Missense_Mutation_p.R503H	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	608	EGF-like 11.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCATTTCTTGCGACAGTGCTT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(73;978 3658)							NA				0													26	34	32			NA	NA	1		NA											NA				3422767		1995	4139	6134	SO:0001583	missense			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591	1953	1953			3232	protein-coding gene	gene with protein product		604266	EGF-like-domain, multiple 3	EGFL3	NA	9693030	Standard	NM_001409	NM_001409	NA	Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1823G>A	1.37:g.3422767C>T	ENSP00000348982:p.Arg608His	NA	Q4AC86|Q5VV39	37	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	c	10.97	1.502390	0.26949	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.67698	-0.28;-0.28	3.77	-3.8	0.04307	Epidermal growth factor-like, type 3 (1);	0.438446	0.22220	N	0.062976	T	0.44393	0.1291	N	0.26042	0.785	0.20307	N	0.999918	B;B	0.17268	0.013;0.021	B;B	0.19148	0.024;0.008	T	0.17440	-1.0369	10	0.45353	T	0.12	-11.2415	6.3048	0.21133	0.0:0.3423:0.1325:0.5252	.	608;503	O75095;O75095-2	MEGF6_HUMAN;.	H	503;608	ENSP00000294599:R503H;ENSP00000348982:R608H	ENSP00000294599:R503H	R	-	2	0	MEGF6	3412627	0.045000	0.20229	0.141000	0.22245	0.901000	0.52897	0.333000	0.19768	-0.858000	0.04110	-0.494000	0.04653	CGC	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354866.1		-	ENST00000356575.4	Missense_Mutation	SNP	1 : 3422767 - 3422767 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	71	7
MFAP3L	9848	broad.mit.edu	37	4	170926893	170926893	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr4:170926893C>T	ENST00000393702.3	-	3	753	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	MFAP3L_ENST00000506110.1_Missense_Mutation_p.V46M|MFAP3L_ENST00000361618.3_Missense_Mutation_p.V46M			O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	46						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		ATTACGGGCACAGAGCCCAAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	140	146			NA	NA	4		NA											NA				170926893		2203	4300	6503	SO:0001583	missense			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948	9848	9848		Immunoglobulin superfamily / I-set domain containing	29083	protein-coding gene	gene with protein product					NA	9734811	Standard	NM_021647	XM_005263366	NA	Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000393702.3:c.136G>A	4.37:g.170926893C>T	ENSP00000377305:p.Val46Met	NA	A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	37		.	.	.	.	.	.	.	.	.	.	C	4.276	0.050406	0.08243	.	.	ENSG00000198948	ENST00000361618;ENST00000393702;ENST00000506110;ENST00000504999;ENST00000506764;ENST00000510306	D;D;D;D;D	0.96073	-1.78;-3.9;-3.9;-3.9;-3.9	5.18	1.49	0.22878	Immunoglobulin-like fold (1);	0.598203	0.18825	N	0.130155	D	0.91068	0.7189	L	0.43152	1.355	0.25324	N	0.989092	B	0.09022	0.002	B	0.08055	0.003	T	0.81221	-0.1031	10	0.32370	T	0.25	-0.0058	9.0328	0.36269	0.0:0.6194:0.0:0.3806	.	46	O75121	MFA3L_HUMAN	M	46	ENSP00000354583:V46M;ENSP00000377305:V46M;ENSP00000422571:V46M;ENSP00000425303:V46M;ENSP00000426247:V46M	ENSP00000354583:V46M	V	-	1	0	MFAP3L	171163468	0.074000	0.21230	0.741000	0.31004	0.040000	0.13550	0.703000	0.25646	0.292000	0.22492	-0.258000	0.10820	GTG	MFAP3L-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363045.2		-	ENST00000393702.3	Missense_Mutation	SNP	4 : 170926893 - 170926893 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	468	49
MKX	283078	broad.mit.edu	37	10	27964309	27964309	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:27964309G>A	ENST00000375790.5	-	7	1340	c.908C>T	c.(907-909)aCg>aTg	p.T303M	MKX_ENST00000419761.1_Missense_Mutation_p.T303M			Q8IYA7	MKX_HUMAN	mohawk homeobox	303					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CTTCCAATACGTGTCATCCTT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													250	221	231			NA	NA	10		NA											NA				27964309		2203	4300	6503	SO:0001583	missense			BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051	283078	283078		Homeoboxes / TALE class	23729	protein-coding gene	gene with protein product		601332	chromosome 10 open reading frame 48, iroquois homeobox protein-like 1	C10orf48, IRXL1	NA	16408284	Standard	NM_173576	NM_173576	NA	Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.908C>T	10.37:g.27964309G>A	ENSP00000364946:p.Thr303Met	NA	B3KWM5	37	CCDS7156.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675117	0.88445	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	T;T	0.19394	2.15;2.15	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.11916	-1.0568	10	0.72032	D	0.01	-26.4697	20.6013	0.99457	0.0:0.0:1.0:0.0	.	303	Q8IYA7	MKX_HUMAN	M	303	ENSP00000364946:T303M;ENSP00000400896:T303M	ENSP00000364946:T303M	T	-	2	0	MKX	28004315	1.000000	0.71417	0.989000	0.46669	0.896000	0.52359	7.322000	0.79097	2.878000	0.98634	0.650000	0.86243	ACG	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047332.3		-	ENST00000375790.5	Missense_Mutation	SNP	10 : 27964309 - 27964309 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	770	66
MMRN2	79812	broad.mit.edu	37	10	88702455	88702455	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:88702455C>T	ENST00000372027.5	-	6	2407	c.2086G>A	c.(2086-2088)Ggg>Agg	p.G696R		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	NA						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CGCGCCAGCCCGGCCAGGGCG	0.776		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	5	5			NA	NA	10		NA											NA				88702455		2040	3968	6008	SO:0001583	missense			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269	79812	79812		EMI domain containing	19888	protein-coding gene	gene with protein product		608925	elastin microfibril interfacer 3	EMILIN3	NA	11559704	Standard	NM_024756	NM_024756	NA	Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.2086G>A	10.37:g.88702455C>T	ENSP00000361097:p.Gly696Arg	NA	Q504V7|Q6P2N2	37	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	C	9.413	1.081066	0.20309	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.14144	2.53	4.85	-1.39	0.08997	.	1.310930	0.05269	N	0.517137	T	0.11324	0.0276	L	0.56769	1.78	0.09310	N	1	P;P;P	0.49961	0.93;0.645;0.93	B;B;B	0.30716	0.119;0.037;0.09	T	0.46569	-0.9182	10	0.35671	T	0.21	-7.3288	9.3618	0.38201	0.0:0.3617:0.5044:0.1339	.	474;635;696	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	R	696;474	ENSP00000361097:G696R	ENSP00000361097:G696R	G	-	1	0	MMRN2	88692435	0.000000	0.05858	0.005000	0.12908	0.067000	0.16453	-0.154000	0.10130	0.055000	0.16094	0.305000	0.20034	GGG	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049179.2		-	ENST00000372027.5	Missense_Mutation	SNP	10 : 88702455 - 88702455 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	88	12
MYH7	4625	broad.mit.edu	37	14	23898246	23898246	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr14:23898246C>T	ENST00000355349.3	-	14	1487	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	442	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)		GGCATTGATGCGCGTCACCAT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM066922	MYH7	M							137	118	125			NA	NA	14		NA											NA				23898246		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.1325G>A	14.37:g.23898246C>T	ENSP00000347507:p.Arg442His	NA	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	c	23.5	4.429693	0.83776	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88741	-2.42	4.18	4.18	0.49190	Myosin head, motor domain (2);	.	.	.	.	D	0.95513	0.8542	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96729	0.9538	9	0.87932	D	0	.	16.6862	0.85309	0.0:1.0:0.0:0.0	.	442	P12883	MYH7_HUMAN	H	442	ENSP00000347507:R442H	ENSP00000347507:R442H	R	-	2	0	MYH7	22968086	0.566000	0.26618	0.974000	0.42286	0.583000	0.36354	5.795000	0.69074	2.166000	0.68216	0.455000	0.32223	CGC	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071798.3		-	ENST00000355349.3	Missense_Mutation	SNP	14 : 23898246 - 23898246 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	550	32
N6AMT2	221143	broad.mit.edu	37	13	21311867	21311867	+	Silent	SNP	A	A	C	rs140127205		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr13:21311867A>C	ENST00000382758.1	-	3	269	c.222T>G	c.(220-222)ggT>ggG	p.G74G	N6AMT2_ENST00000382754.4_Silent_p.G74G			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	74							methyltransferase activity|nucleic acid binding			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		CTCACCTGCCACCTTCTCCTA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	53	58			NA	NA	13		NA											NA				21311867		2203	4300	6503	SO:0001819	synonymous_variant			AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456	221143	221143			27351	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_174928	NM_174928	NA	Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.222T>G	13.37:g.21311867A>C		NA	B5G4V1	37	CCDS9293.1																																																																																			N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044083.1		-	ENST00000382758.1	Silent	SNP	13 : 21311867 - 21311867 C PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	81	11
NTNG1	22854	broad.mit.edu	37	1	108023321	108023321	+	Silent	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:108023321G>A	ENST00000370067.1	+	7	1869	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	NTNG1_ENST00000370073.2_Silent_p.T493T|NTNG1_ENST00000370070.2_Silent_p.T414T|NTNG1_ENST00000370071.2_Silent_p.T434T|NTNG1_ENST00000370061.3_Silent_p.T459T|NTNG1_ENST00000542803.1_Silent_p.T493T|NTNG1_ENST00000370072.3_Silent_p.T448T|NTNG1_ENST00000370065.1_Silent_p.T448T|NTNG1_ENST00000370074.4_Silent_p.T392T|NTNG1_ENST00000370066.1_Silent_p.T434T|NTNG1_ENST00000370068.1_Silent_p.T493T			Q9Y2I2	NTNG1_HUMAN	netrin G1	445	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CCGCATACACGGGCATCCTCT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	27	26			NA	NA	1		NA											NA				108023321		2202	4299	6501	SO:0001819	synonymous_variant			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631	22854	22854		Netrins	23319	protein-coding gene	gene with protein product	netrin G1f, Netrin-G1	608818			NA	10964959	Standard	NM_014917	NM_001113226	NA	Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370067.1:c.1242G>A	1.37:g.108023321G>A		NA	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	37																																																																																				NTNG1-004	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000030338.1		+	ENST00000370067.1	Silent	SNP	1 : 108023321 - 108023321 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	168	10
OR2G3	81469	broad.mit.edu	37	1	247769183	247769183	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:247769183C>T	ENST00000320002.2	+	1	328	c.296C>T	c.(295-297)gCg>gTg	p.A99V	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A99G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGTTGTGTGGCGCAACTCTAT	0.483		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)											299	263	275			NA	NA	1		NA											NA				247769183		2203	4300	6503	SO:0001583	missense			BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476	81469	81469		GPCR / Class A : Olfactory receptors	15008	protein-coding gene	gene with protein product					NA		Standard		NM_001001914	NA	Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.296C>T	1.37:g.247769183C>T	ENSP00000326301:p.Ala99Val	NA	B2RN64|Q5JQT1|Q6IF45	37	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.048532	0.00394	.	.	ENSG00000177476	ENST00000320002	T	0.00940	5.52	3.8	2.66	0.31614	GPCR, rhodopsin-like superfamily (1);	0.891435	0.08964	N	0.868207	T	0.00666	0.0022	N	0.16567	0.415	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46034	-0.9220	10	0.02654	T	1	.	5.2568	0.15552	0.0:0.2412:0.0:0.7588	.	99	Q8NGZ4	OR2G3_HUMAN	V	99	ENSP00000326301:A99V	ENSP00000326301:A99V	A	+	2	0	OR2G3	245835806	0.000000	0.05858	0.001000	0.08648	0.082000	0.17680	-1.891000	0.01611	0.643000	0.30638	-0.468000	0.05107	GCG	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097624.1		+	ENST00000320002.2	Missense_Mutation	SNP	1 : 247769183 - 247769183 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	1511	136
OR52D1	390066	broad.mit.edu	37	11	5510886	5510886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:5510886C>A	ENST00000322641.5	+	1	972	c.950C>A	c.(949-951)tCa>tAa	p.S317*	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S317L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGAAGACTTCAATATGAATG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)											57	56	56			NA	NA	11		NA											NA				5510886		2201	4297	6498	SO:0001587	stop_gained			BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609	390066	390066		GPCR / Class A : Olfactory receptors	15212	protein-coding gene	gene with protein product					NA		Standard	NM_001005163	NM_001005163	NA	Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.950C>A	11.37:g.5510886C>A	ENSP00000326232:p.Ser317*	NA	B9EGY9|Q6IFI6	37	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370450	0.42003	.	.	ENSG00000181609	ENST00000322641	.	.	.	4.75	0.744	0.18353	.	1.338280	0.05072	N	0.481801	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.3458	0.21349	0.0:0.5709:0.0:0.4291	.	.	.	.	X	317	.	ENSP00000326232:S317X	S	+	2	0	OR52D1	5467462	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	0.659000	0.24994	0.304000	0.22809	0.655000	0.94253	TCA	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143372.1		+	ENST00000322641.5	Nonsense_Mutation	SNP	11 : 5510886 - 5510886 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	430	27
P4HA1	5033	broad.mit.edu	37	10	74813157	74813157	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:74813157C>T	ENST00000373008.2	-	6	771	c.655G>A	c.(655-657)Gga>Aga	p.G219R	P4HA1_ENST00000412021.2_Missense_Mutation_p.G219R|P4HA1_ENST00000307116.2_Missense_Mutation_p.G219R|P4HA1_ENST00000263556.3_Missense_Mutation_p.G219R|P4HA1_ENST00000440381.1_Missense_Mutation_p.G219R|P4HA1_ENST00000394890.2_Missense_Mutation_p.G219R			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	219						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCCAGGTCTCCCTGCTGATAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(147;367 2405 2662 52127)							NA				0													128	127	127			NA	NA	10		NA											NA				74813157		2203	4300	6503	SO:0001583	missense				CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	5033	5033	1.14.11.2		8546	protein-coding gene	gene with protein product	collagen prolyl 4-hydroxylase alpha(I)	176710	procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I	P4HA	NA	2556027	Standard	NM_000917	NM_001017962	NA	Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000373008.2:c.655G>A	10.37:g.74813157C>T	ENSP00000362099:p.Gly219Arg	NA	Q15082|Q15083|Q5VSQ5	37		.	.	.	.	.	.	.	.	.	.	C	33	5.226826	0.95173	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.52057	0.7;0.7;0.7;0.7;0.7;0.68	5.83	5.83	0.93111	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77143	0.4087	M	0.91872	3.25	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.991	D;D;D	0.76575	0.988;0.953;0.953	T	0.81475	-0.0916	10	0.87932	D	0	-4.2197	20.1224	0.97967	0.0:1.0:0.0:0.0	.	219;219;219	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	R	219	ENSP00000307318:G219R;ENSP00000362099:G219R;ENSP00000411688:G219R;ENSP00000378353:G219R;ENSP00000263556:G219R;ENSP00000414464:G219R	ENSP00000263556:G219R	G	-	1	0	P4HA1	74483163	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.468000	0.80943	2.763000	0.94921	0.655000	0.94253	GGA	P4HA1-002	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000048602.1		-	ENST00000373008.2	Missense_Mutation	SNP	10 : 74813157 - 74813157 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	705	51
PACSIN1	29993	broad.mit.edu	37	6	34498289	34498289	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr6:34498289A>C	ENST00000538621.1	+	8	1207	c.962A>C	c.(961-963)aAg>aCg	p.K321T	PACSIN1_ENST00000244458.2_Missense_Mutation_p.K321T|PACSIN1_ENST00000374043.2_Missense_Mutation_p.K279T	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	321					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AAACAGCCTAAGAAGGCAGAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	87	94			NA	NA	6		NA											NA				34498289		2203	4300	6503	SO:0001583	missense			AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507	NA	29993			8570	protein-coding gene	gene with protein product	syndapin I	606512			NA	11179684	Standard		NM_020804	NA	Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.962A>C	6.37:g.34498289A>C	ENSP00000439639:p.Lys321Thr	NA	Q9P2G8	37	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.635770	0.47049	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.24538	1.85;1.85;1.85	4.43	4.43	0.53597	.	0.208574	0.48286	D	0.000188	T	0.25717	0.0626	M	0.72118	2.19	0.58432	D	0.999999	D	0.63880	0.993	P	0.53266	0.722	T	0.05835	-1.0861	10	0.18710	T	0.47	-17.1727	13.5105	0.61508	1.0:0.0:0.0:0.0	.	321	Q9BY11	PACN1_HUMAN	T	321;279;321;321	ENSP00000244458:K321T;ENSP00000363155:K279T;ENSP00000439639:K321T	ENSP00000244458:K321T	K	+	2	0	PACSIN1	34606267	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	3.935000	0.56560	1.875000	0.54330	0.374000	0.22700	AAG	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040236.1		+	ENST00000538621.1	Missense_Mutation	SNP	6 : 34498289 - 34498289 C PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	130	10
PAPSS2	9060	broad.mit.edu	37	10	89419767	89419767	+	Splice_Site	SNP	T	T	C			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:89419767T>C	ENST00000361175.4	+	1	396		c.e1+2		PAPSS2_ENST00000456849.1_Splice_Site	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	NA					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CAAAAGACGGTAGGCTTCCAG	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	20	19			NA	NA	10		NA											NA				89419767		2197	4288	6485	SO:0001630	splice_region_variant			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	9060	9060	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005			NA	9771708	Standard		NM_004670	NA	Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.27+2T>C	10.37:g.89419767T>C		NA	Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	37	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.263517	0.59431	.	.	ENSG00000198682	ENST00000361175;ENST00000456849	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7299	0.40355	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAPSS2	89409747	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.292000	0.51772	1.794000	0.52575	0.379000	0.24179	.	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049229.1	Intron	+	ENST00000361175.4	Splice_Site	SNP	10 : 89419767 - 89419767 C PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	111	10
PCDHB3	56132	broad.mit.edu	37	5	140482020	140482020	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr5:140482020C>T	ENST00000231130.2	+	1	1787	c.1787C>T	c.(1786-1788)tCg>tTg	p.S596L		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	596	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACGGCGACTCGGGCCAGAAC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	12	11			NA	NA	5		NA											NA				140482020		1777	3609	5386	SO:0001583	missense			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205	56132	56132		Cadherins / Protocadherins : Clustered	8688	other	protocadherin		606329			NA	10380929	Standard	NM_018937	NM_018937	NA	Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1787C>T	5.37:g.140482020C>T	ENSP00000231130:p.Ser596Leu	NA	B2R8P2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939596	0.73557	.	.	ENSG00000113205	ENST00000231130	T	0.49432	0.78	4.08	3.13	0.36017	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68339	0.2990	M	0.82630	2.6	0.33058	D	0.533707	D	0.76494	0.999	D	0.66084	0.941	T	0.79077	-0.1951	9	0.87932	D	0	.	13.9076	0.63845	0.0:0.8468:0.1532:0.0	.	596	Q9Y5E6	PCDB3_HUMAN	L	596	ENSP00000231130:S596L	ENSP00000231130:S596L	S	+	2	0	PCDHB3	140462204	0.005000	0.15991	0.999000	0.59377	0.998000	0.95712	2.101000	0.41787	1.993000	0.58246	0.556000	0.70494	TCG	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251817.2		+	ENST00000231130.2	Missense_Mutation	SNP	5 : 140482020 - 140482020 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	558	45
PI4KB	5298	broad.mit.edu	37	1	151288137	151288137	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:151288137C>T	ENST00000368875.2	-	3	1437	c.857G>A	c.(856-858)cGc>cAc	p.R286H	PI4KB_ENST00000368872.1_Missense_Mutation_p.R274H|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000271657.5_Missense_Mutation_p.R286H|PI4KB_ENST00000368873.1_Missense_Mutation_p.R274H|PI4KB_ENST00000368874.4_Missense_Mutation_p.R274H	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	274					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGACTTAGAGCGCTGGTGAGT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(154;765 1838 9854 28443 37492)							NA				0													119	109	113			NA	NA	1		NA											NA				151288137		2203	4300	6503	SO:0001583	missense			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393	5298	5298			8984	protein-coding gene	gene with protein product		602758		PIK4CB	NA	9020160, 9405938	Standard	NM_002651	NM_002651	NA	Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368875.2:c.857G>A	1.37:g.151288137C>T	ENSP00000357869:p.Arg286His	NA	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	37	CCDS993.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755904	0.89843	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243	T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.81049	0.4742	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.994;1.0	T	0.82548	-0.0402	10	0.72032	D	0.01	-14.1955	17.2599	0.87067	0.0:1.0:0.0:0.0	.	274;274;274	E9PIH4;Q9UBF8;Q9UBF8-2	.;PI4KB_HUMAN;.	H	274;286;286;274;274;274	ENSP00000357868:R274H;ENSP00000357869:R286H;ENSP00000271657:R286H;ENSP00000357867:R274H;ENSP00000357866:R274H;ENSP00000394719:R274H	ENSP00000271657:R286H	R	-	2	0	PI4KB	149554761	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.567000	0.82357	2.654000	0.90174	0.561000	0.74099	CGC	PI4KB-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034402.4		-	ENST00000368875.2	Missense_Mutation	SNP	1 : 151288137 - 151288137 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	459	36
PKN1	5585	broad.mit.edu	37	19	14581423	14581423	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr19:14581423G>A	ENST00000242783.6	+	20	2638	c.2473G>A	c.(2473-2475)Gac>Aac	p.D825N	PKN1_ENST00000342216.4_Missense_Mutation_p.D831N	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	825	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GGAGGTCTTCGACAGCATCGT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(185;2539 2965 10733 52867)							NA				0													20	24	22			NA	NA	19		NA											NA				14581423		1995	4150	6145	SO:0001583	missense			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143	5585	5585			9405	protein-coding gene	gene with protein product		601032	protein kinase C-like 1	PRKCL1	NA	9570957	Standard	NM_002741, NM_213560	NM_002741	NA	Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2473G>A	19.37:g.14581423G>A	ENSP00000242783:p.Asp825Asn	NA	A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	37	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392493	0.83011	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.53206	0.63;0.63	4.18	4.18	0.49190	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	T	0.55194	0.1905	N	0.25992	0.78	0.47276	D	0.999378	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.60757	-0.7200	10	0.87932	D	0	-20.007	14.0135	0.64511	0.0:0.0:1.0:0.0	.	831;825	Q16512-2;Q16512	.;PKN1_HUMAN	N	825;831	ENSP00000242783:D825N;ENSP00000343325:D831N	ENSP00000242783:D825N	D	+	1	0	PKN1	14442423	1.000000	0.71417	0.977000	0.42913	0.569000	0.35902	9.037000	0.93765	2.177000	0.69029	0.555000	0.69702	GAC	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095510.1		+	ENST00000242783.6	Missense_Mutation	SNP	19 : 14581423 - 14581423 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	95	9
PLEKHM1	9842	broad.mit.edu	37	17	43531559	43531559	+	Silent	SNP	G	G	C			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr17:43531559G>C	ENST00000430334.3	-	7	1792	c.1659C>G	c.(1657-1659)ctC>ctG	p.L553L	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Silent_p.L464L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	553	PH 1.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GCTCGCAGAAGAGCTCCTTCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	16	17			NA	NA	17		NA											NA				43531559		2202	4297	6499	SO:0001819	synonymous_variant			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190	9842	9842		Pleckstrin homology (PH) domain containing	29017	protein-coding gene	gene with protein product		611466			NA	9205841, 12820725	Standard	NM_014798	NM_014798	NA	Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1659C>G	17.37:g.43531559G>C		NA	Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	37	CCDS32671.1																																																																																			PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444659.1		-	ENST00000430334.3	Silent	SNP	17 : 43531559 - 43531559 C PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	128	26
POM121L12	285877	broad.mit.edu	37	7	53103801	53103801	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr7:53103801G>A	ENST00000408890.4	+	1	453	c.437G>A	c.(436-438)cGt>cAt	p.R146H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	146								p.R146H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCCCTGAGCGTCAGGAGAGC	0.711		NA											G	1	5e-04	NA	NA	2184	NA	0.9994	,	,	NA	3e-04	0.0013	NA	NA	7e-04	0.6025	EXOME	NA	NA	5e-04	SNP								NA				1	Substitution - Missense(1)	endometrium(1)											18	22	21			NA	NA	7		NA											NA				53103801		1923	4092	6015	SO:0001583	missense				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900	285877	285877			25369	protein-coding gene	gene with protein product			POM121 membrane glycoprotein-like 12		NA		Standard	NM_182595	NM_182595	NA	Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.437G>A	7.37:g.53103801G>A	ENSP00000386133:p.Arg146His	NA	Q8NDI9	37	CCDS43584.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.394	0.440778	0.12104	.	.	ENSG00000221900	ENST00000408890	T	0.24723	1.84	1.37	-1.98	0.07480	.	.	.	.	.	T	0.17408	0.0418	L	0.43923	1.385	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26815	-1.0092	9	0.30078	T	0.28	.	5.2756	0.15647	0.5589:0.0:0.4411:0.0	.	146	Q8N7R1	P1L12_HUMAN	H	146	ENSP00000386133:R146H	ENSP00000386133:R146H	R	+	2	0	POM121L12	53071295	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.211000	0.02997	-0.736000	0.04831	-2.126000	0.00345	CGT	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342656.1		+	ENST00000408890.4	Missense_Mutation	SNP	7 : 53103801 - 53103801 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	231	33
PTCHD2	57540	broad.mit.edu	37	1	11595630	11595630	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:11595630G>A	ENST00000294484.6	+	20	3883	c.3745G>A	c.(3745-3747)Gtg>Atg	p.V1249M	PTCHD2_ENST00000304391.6_Missense_Mutation_p.R135H|PTCHD2_ENST00000389575.3_Missense_Mutation_p.V1249M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1249					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TGGCTCCTCCGTGGATTACTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	80	76			NA	NA	1		NA											NA				11595630		2133	4230	6363	SO:0001583	missense			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624	57540	57540			29251	protein-coding gene	gene with protein product		611251			NA	15738394	Standard	XM_052561	NM_020780	NA	Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3745G>A	1.37:g.11595630G>A	ENSP00000294484:p.Val1249Met	NA	Q5VTU9|Q9UJD6	37	CCDS41247.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.12|18.12	3.552516|3.552516	0.65425|0.65425	.|.	.|.	ENSG00000204624|ENSG00000204624	ENST00000304391|ENST00000294484;ENST00000389575	.|D;D	.|0.94457	.|-3.43;-2.84	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Membrane transport protein, MMPL type (1);	.|0.000000	.|0.64402	.|D	.|0.000003	D|D	0.97334|0.97334	0.9128|0.9128	M|M	0.81802|0.81802	2.56|2.56	0.48185|0.48185	D|D	0.999605|0.999605	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.97740|0.97740	1.0208|1.0208	6|10	0.87932|0.72032	D|D	0|0.01	-24.6787|-24.6787	18.4583|18.4583	0.90729|0.90729	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1249	.|Q9P2K9	.|PTHD2_HUMAN	H|M	135|1249	.|ENSP00000294484:V1249M;ENSP00000374226:V1249M	ENSP00000303400:R135H|ENSP00000294484:V1249M	R|V	+|+	2|1	0|0	PTCHD2|PTCHD2	11518217|11518217	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.766000|0.766000	0.43426|0.43426	7.578000|7.578000	0.82498|0.82498	2.604000|2.604000	0.88044|0.88044	0.655000|0.655000	0.94253|0.94253	CGT|GTG	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005770.2		+	ENST00000294484.6	Missense_Mutation	SNP	1 : 11595630 - 11595630 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	395	30
REPIN1	29803	broad.mit.edu	37	7	150069256	150069256	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr7:150069256C>G	ENST00000425389.2	+	1	1004	c.926C>G	c.(925-927)tCt>tGt	p.S309C	REPIN1_ENST00000489432.2_Missense_Mutation_p.S366C|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Missense_Mutation_p.S309C|REPIN1_ENST00000444957.1_Missense_Mutation_p.S309C|REPIN1_ENST00000397281.2_Missense_Mutation_p.S309C|REPIN1_ENST00000479668.1_3'UTR	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	309					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			AACCTGCTGTCTCACAGCAAG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	13	12			NA	NA	7		NA											NA				150069256		2112	4239	6351	SO:0001583	missense			AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08			29803	29803		Zinc fingers, C2H2-type	17922	protein-coding gene	gene with protein product	replication initiation region protein (60kD), zinc finger protein AP4, zinc finger protein 464 (RIP60)		zinc finger protein 464 (RIP60)	ZNF464	NA	10606657	Standard	NM_014374	NM_013400	NA	Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.926C>G	7.37:g.150069256C>G	ENSP00000388287:p.Ser309Cys	NA	D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	37	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450922	0.43531	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000488943;ENST00000425389	T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13	4.91	4.91	0.64330	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55049	0.1896	N	0.08118	0	0.22354	N	0.99917	P;D	0.76494	0.553;0.999	B;D	0.69142	0.062;0.962	T	0.49062	-0.8978	9	0.52906	T	0.07	-6.4308	10.6565	0.45678	0.1909:0.8091:0.0:0.0	.	366;309	C9J3L7;Q9BWE0	.;REPI1_HUMAN	C	309;309;309;366;369;309	ENSP00000445016:S309C;ENSP00000380451:S309C;ENSP00000407714:S309C;ENSP00000417291:S366C;ENSP00000419872:S369C;ENSP00000388287:S309C	ENSP00000380451:S309C	S	+	2	0	REPIN1	149700189	0.000000	0.05858	0.995000	0.50966	0.986000	0.74619	-0.090000	0.11163	2.550000	0.86006	0.462000	0.41574	TCT	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376940.1		+	ENST00000425389.2	Missense_Mutation	SNP	7 : 150069256 - 150069256 G PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	72	11
RIMBP2	23504	broad.mit.edu	37	12	130935797	130935797	+	Silent	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr12:130935797G>A	ENST00000261655.4	-	5	559	c.396C>T	c.(394-396)tcC>tcT	p.S132S	RIMBP2_ENST00000535703.1_Silent_p.S40S|RIMBP2_ENST00000536002.1_Silent_p.S40S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	132						cell junction|synapse		p.S132S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGGGCTTGGCGGACAGAGGCT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	NS(1)											59	57	58			NA	NA	12		NA											NA				130935797		2203	4300	6503	SO:0001819	synonymous_variant			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709	23504	23504			30339	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 133	611602			NA	10748113	Standard	NM_015347	NM_015347	NA	Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.396C>T	12.37:g.130935797G>A		NA	Q96ID2	37	CCDS31925.1																																																																																			RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399520.1		-	ENST00000261655.4	Silent	SNP	12 : 130935797 - 130935797 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	424	76
RORC	6097	broad.mit.edu	37	1	151789160	151789160	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:151789160G>A	ENST00000356728.6	-	3	369	c.215C>T	c.(214-216)gCg>gTg	p.A72V	RORC_ENST00000392697.3_Missense_Mutation_p.A147V|RORC_ENST00000318247.6_Missense_Mutation_p.A93V	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	93					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CATGCCCAGCGCCAGGCATTT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	30	31			NA	NA	1		NA											NA				151789160		2203	4300	6503	SO:0001583	missense			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365	NA	6097		Nuclear hormone receptors	10260	protein-coding gene	gene with protein product		602943			NA	7811290	Standard		NM_005060	NA	Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000356728.6:c.215C>T	1.37:g.151789160G>A	ENSP00000349164:p.Ala72Val	NA	Q5SZR9|Q8N5V7|Q8NCY8	37	CCDS30856.1	.	.	.	.	.	.	.	.	.	.	G	35	5.486069	0.96323	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.97378	-4.36;-4.36;-4.36	5.24	5.24	0.73138	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (4);	0.174286	0.35235	U	0.003342	D	0.98150	0.9389	M	0.78223	2.4	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.75484	0.972;0.933;0.981;0.986	D	0.99342	1.0912	10	0.87932	D	0	.	16.3321	0.83039	0.0:0.0:1.0:0.0	.	93;147;93;72	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	V	72;147;93	ENSP00000349164:A72V;ENSP00000376461:A147V;ENSP00000327025:A93V	ENSP00000327025:A93V	A	-	2	0	RORC	150055784	1.000000	0.71417	0.949000	0.38748	0.988000	0.76386	4.057000	0.57455	2.436000	0.82500	0.563000	0.77884	GCG	RORC-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036627.1		-	ENST00000356728.6	Missense_Mutation	SNP	1 : 151789160 - 151789160 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	71	16
RP11-872D17.8	0	broad.mit.edu	37	11	57156526	57156526	+	Missense_Mutation	SNP	C	C	T	rs146040085	byFrequency	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:57156526C>T	ENST00000529411.1	-	4	637	c.638G>A	c.(637-639)cGc>cAc	p.R213H	PRG2_ENST00000533605.1_Missense_Mutation_p.R108H|PRG2_ENST00000311862.5_Missense_Mutation_p.R108H|PRG2_ENST00000525955.1_Missense_Mutation_p.R108H						NA											NA						CAGGAGGTAGCGGCAGGTCTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	94	86	89		323	-1	0	11	dbSNP_134	89	1,8591	1.2+/-3.3	0,1,4295	no	missense	PRG2	NM_002728.4	29	0,2,6495	TT,TC,CC	NA	0.0116,0.0227,0.0154		108/223	57156526	2,12992	2201	4296	6497	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000529411.1:c.638G>A	11.37:g.57156526C>T	ENSP00000431536:p.Arg213His	NA		37		.	.	.	.	.	.	.	.	.	.	C	16.51	3.142752	0.57044	2.27E-4	1.16E-4	ENSG00000186652;ENSG00000186652;ENSG00000186652;ENSG00000254979	ENST00000311862;ENST00000533605;ENST00000525955;ENST00000529411	T;T;T;T	0.39787	1.06;2.72;1.06;1.21	5.34	-0.992	0.10232	C-type lectin fold (1);C-type lectin (1);	0.139621	0.30277	N	0.009986	T	0.23492	0.0568	L	0.55743	1.74	0.09310	N	1	B;P	0.37548	0.041;0.599	B;B	0.25405	0.015;0.06	T	0.25916	-1.0118	10	0.17832	T	0.49	.	4.4194	0.11472	0.1481:0.4307:0.0:0.4212	.	108;108	A6XMW0;P13727	.;PRG2_HUMAN	H	108;108;108;213	ENSP00000312134:R108H;ENSP00000433231:R108H;ENSP00000433016:R108H;ENSP00000431536:R213H	ENSP00000312134:R108H	R	-	2	0	RP11-872D17.8;PRG2	56913102	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.060000	0.11712	-0.505000	0.06568	-0.291000	0.09656	CGC	RP11-872D17.8-002	NOVEL	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000393255.1		-	ENST00000529411.1	Missense_Mutation	SNP	11 : 57156526 - 57156526 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	460	10
RYR2	6262	broad.mit.edu	37	1	237632473	237632473	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:237632473T>C	ENST00000366574.2	+	17	2011	c.1694T>C	c.(1693-1695)cTg>cCg	p.L565P	RYR2_ENST00000542537.1_Missense_Mutation_p.L549P|RYR2_ENST00000360064.6_Missense_Mutation_p.L563P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	565					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGGAAAGACTGGAAGCTTCT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	106	107			NA	NA	1		NA											NA				237632473		1821	4089	5910	SO:0001583	missense			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626	6262	6262		Ion channels / Ryanodine receptors, EF-hand domain containing	10484	protein-coding gene	gene with protein product		180902	arrhythmogenic right ventricular dysplasia 2	ARVD2	NA	2380170, 8406504, 11159936	Standard	NM_001035	NM_001035	NA	Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1694T>C	1.37:g.237632473T>C	ENSP00000355533:p.Leu565Pro	NA	Q15411|Q546N8|Q5T3P2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.260538	0.59431	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95788	-3.81;-3.81;-3.81	5.14	5.14	0.70334	Intracellular calcium-release channel (1);	0.000000	0.46145	U	0.000314	D	0.96574	0.8882	M	0.63169	1.94	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	D	0.96379	0.9280	10	0.51188	T	0.08	.	12.4837	0.55859	0.0:0.0:0.0:1.0	.	565	Q92736	RYR2_HUMAN	P	565;563;549	ENSP00000355533:L565P;ENSP00000353174:L563P;ENSP00000443798:L549P	ENSP00000353174:L563P	L	+	2	0	RYR2	235699096	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.165000	0.77544	1.937000	0.56155	0.460000	0.39030	CTG	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095402.2		+	ENST00000366574.2	Missense_Mutation	SNP	1 : 237632473 - 237632473 C PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	330	50
SEMA5B	54437	broad.mit.edu	37	3	122634365	122634365	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr3:122634365C>T	ENST00000357599.3	-	14	2296	c.1910G>A	c.(1909-1911)cGa>cAa	p.R637Q	SEMA5B_ENST00000195173.4_Missense_Mutation_p.R637Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R691Q	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	637					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		ATCACAGGATCGAGCTCGACA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	68	69			NA	NA	3		NA											NA				122634365		2203	4300	6503	SO:0001583	missense			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684	54437	54437		Semaphorins	10737	protein-coding gene	gene with protein product		609298		SEMAG	NA	8817451	Standard	NM_001031702	NM_001256346	NA	Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1910G>A	3.37:g.122634365C>T	ENSP00000350215:p.Arg637Gln	NA	A8K5U2|Q6DD89|Q6UY12|Q9NW17	37	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	34	5.335933	0.95758	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.70307	0.3209	H	0.99074	4.42	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.84317	0.0514	10	0.87932	D	0	.	17.2003	0.86904	0.0:1.0:0.0:0.0	.	579;637;637	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	Q	637;637;579;691;637	ENSP00000350215:R637Q;ENSP00000195173:R637Q;ENSP00000389588:R691Q;ENSP00000377208:R637Q	ENSP00000195173:R637Q	R	-	2	0	SEMA5B	124117055	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.596000	0.82721	2.520000	0.84964	0.561000	0.74099	CGA	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277165.1		-	ENST00000357599.3	Missense_Mutation	SNP	3 : 122634365 - 122634365 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	286	23
SLCO5A1	81796	broad.mit.edu	37	8	70617453	70617453	+	Missense_Mutation	SNP	C	C	T	rs141622109		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr8:70617453C>T	ENST00000524945.1	-	5	2151	c.1435G>A	c.(1435-1437)Gtc>Atc	p.V479I	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.V424I|SLCO5A1_ENST00000260126.4_Missense_Mutation_p.V479I	NM_001146008.1	NP_001139480.1	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	479						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GCACTGGGGACGATAATAACC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	57	59	58		1435,1270,1435	5.6	1	8	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	SLCO5A1	NM_001146008.1,NM_001146009.1,NM_030958.2	29,29,29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	479/688,424/794,479/849	70617453	1,13005	2203	4300	6503	SO:0001583	missense			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571	81796	81796		Solute carriers	19046	protein-coding gene	gene with protein product		613543	solute carrier family 21 (organic anion transporter), member 15	SLC21A15	NA	12507753	Standard	NM_030958	NM_030958	NA	Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000524945.1:c.1435G>A	8.37:g.70617453C>T	ENSP00000434422:p.Val479Ile	NA	B2RPF7	37	CCDS55243.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265449	0.40095	0.0	1.16E-4	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.39787	1.06;1.06;1.06	5.55	5.55	0.83447	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.46464	0.1394	N	0.17474	0.49	0.44221	D	0.997051	D;D;P;P	0.89917	1.0;0.961;0.798;0.871	D;P;B;B	0.83275	0.996;0.621;0.261;0.144	T	0.16689	-1.0394	10	0.05436	T	0.98	.	19.8764	0.96873	0.0:1.0:0.0:0.0	.	424;424;479;479	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	I	479;479;424	ENSP00000260126:V479I;ENSP00000434422:V479I;ENSP00000431611:V424I	ENSP00000260126:V479I	V	-	1	0	SLCO5A1	70780007	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.748000	0.85085	2.768000	0.95171	0.655000	0.94253	GTC	SLCO5A1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381991.1		-	ENST00000524945.1	Missense_Mutation	SNP	8 : 70617453 - 70617453 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	324	41
SRPK3	26576	broad.mit.edu	37	X	153048258	153048258	+	Silent	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chrX:153048258C>T	ENST00000489426.1	+	12	3074	c.708C>T	c.(706-708)caC>caT	p.H236H	SRPK3_ENST00000393786.3_Silent_p.H169H|SRPK3_ENST00000370100.1_Silent_p.H127H|SRPK3_ENST00000370108.3_Silent_p.H169H|SRPK3_ENST00000370104.1_Silent_p.H169H|SRPK3_ENST00000370101.3_Silent_p.H169H			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	169	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGGGCCACCAGCTCCTCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(167;766 3400 32156)							NA				0													45	37	40			NA	NA	X		NA											NA				153048258		2202	4295	6497	SO:0001819	synonymous_variant			AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343	26576	26576			11402	protein-coding gene	gene with protein product			serine/threonine kinase 23, SFRS protein kinase 3	STK23	NA	16140986	Standard	NM_014370	NM_014370	NA	Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000489426.1:c.708C>T	X.37:g.153048258C>T		NA	Q13583|Q4F970|Q562F5|Q9UM62	37		.	.	.	.	.	.	.	.	.	.	C	4.748	0.139064	0.09083	.	.	ENSG00000184343	ENST00000430541	.	.	.	5.77	0.999	0.19862	.	.	.	.	.	T	0.55752	0.1940	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46233	-0.9206	4	.	.	.	-36.8803	8.7166	0.34414	0.0:0.4138:0.0:0.5862	.	.	.	.	I	183	.	.	T	+	2	0	SRPK3	152701452	0.863000	0.29885	0.998000	0.56505	0.360000	0.29518	-0.028000	0.12350	0.040000	0.15660	-0.192000	0.12808	ACC	SRPK3-007	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000354502.1		+	ENST00000489426.1	Silent	SNP	X : 153048258 - 153048258 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	131	19
STS	412	broad.mit.edu	37	X	7223159	7223159	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chrX:7223159G>A	ENST00000217961.4	+	7	1251	c.1031G>A	c.(1030-1032)gGa>gAa	p.G344E		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	344					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)	TCGGACCAGGGAGCACATGTA	0.458		NA							Ichthyosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	108	115			NA	NA	X		NA											NA				7223159		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.1031G>A	X.37:g.7223159G>A	ENSP00000217961:p.Gly344Glu	NA	B2RA47	37	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167811	0.38315	.	.	ENSG00000101846	ENST00000217961	D	0.99811	-6.87	3.7	3.7	0.42460	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	H	0.99825	4.815	0.43107	D	0.994805	D	0.89917	1.0	D	0.97110	1.0	D	0.96487	0.9361	10	0.87932	D	0	.	10.6511	0.45649	0.0:0.0:1.0:0.0	.	344	P08842	STS_HUMAN	E	344	ENSP00000217961:G344E	ENSP00000217961:G344E	G	+	2	0	STS	7233159	1.000000	0.71417	0.030000	0.17652	0.085000	0.17905	5.739000	0.68622	1.615000	0.50252	0.600000	0.82982	GGA	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055686.1		+	ENST00000217961.4	Missense_Mutation	SNP	X : 7223159 - 7223159 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	273	27
SULF2	55959	broad.mit.edu	37	20	46295174	46295174	+	Silent	SNP	G	G	A	rs115495231	byFrequency	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr20:46295174G>A	ENST00000359930.4	-	12	2486	c.1635C>T	c.(1633-1635)gaC>gaT	p.D545D	SULF2_ENST00000484875.1_Silent_p.D545D|SULF2_ENST00000467815.1_Silent_p.D545D|SULF2_ENST00000361612.4_Silent_p.D545D	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	545					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ACACCCTGCCGTCCACCTCGA	0.622		NA											G	17	0.01	0.03	NA	2184	NA	0.9996	,	,	NA	3e-04	NA	NA	NA	0.008	0.9763	LOWCOV,EXOME	NA	NA	9e-04	SNP								NA				0								G	,,	65,4341	61.1+/-98.1	0,65,2138	91	85	87		1635,1635,1635	-9.2	0	20	dbSNP_132	87	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous,coding-synonymous,coding-synonymous	SULF2	NM_001161841.1,NM_018837.3,NM_198596.2	,,	0,72,6431	AA,AG,GG	NA	0.0814,1.4753,0.5536	,,	545/871,545/871,545/868	46295174	72,12934	2203	4300	6503	SO:0001819	synonymous_variant			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562	55959	55959			20392	protein-coding gene	gene with protein product		610013			NA	12368295	Standard	NM_018837	NM_018837	NA	Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1635C>T	20.37:g.46295174G>A		NA	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	37	CCDS13408.1																																																																																			SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079606.1		-	ENST00000359930.4	Silent	SNP	20 : 46295174 - 46295174 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	730	87
SVEP1	79987	broad.mit.edu	37	9	113261346	113261346	+	Silent	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr9:113261346G>A	ENST00000374469.1	-	7	1850	c.1587C>T	c.(1585-1587)gtC>gtT	p.V529V	SVEP1_ENST00000374461.1_Silent_p.V529V|SVEP1_ENST00000302728.8_Silent_p.V552V|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000401783.2_Silent_p.V552V			Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	552	Sushi 3.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTGAACTCCGACATTCCATT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	56	57			NA	NA	9		NA											NA				113261346		1933	4152	6085	SO:0001819	synonymous_variant			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124	79987	79987			15985	protein-coding gene	gene with protein product		611691	chromosome 9 open reading frame 13	C9orf13	NA		Standard		NM_153366	NA	Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000374469.1:c.1587C>T	9.37:g.113261346G>A		NA	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	37																																																																																				SVEP1-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000053622.1		-	ENST00000374469.1	Silent	SNP	9 : 113261346 - 113261346 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	190	18
TARS	6897	broad.mit.edu	37	5	33455699	33455699	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr5:33455699T>C	ENST00000455217.2	+	7	804	c.682T>C	c.(682-684)Tct>Cct	p.S228P	TARS_ENST00000502553.1_Missense_Mutation_p.S195P|TARS_ENST00000414361.2_Missense_Mutation_p.S74P|TARS_ENST00000541634.1_Missense_Mutation_p.S91P|TARS_ENST00000265112.3_Missense_Mutation_p.S195P	NM_001258438.1	NP_001245367.1	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	195					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CAGGGGTGTGTCTAGCAATGA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	81	81			NA	NA	5		NA											NA				33455699		2203	4300	6503	SO:0001583	missense			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6897	6897	6.1.1.3	Aminoacyl tRNA synthetases / Class II	11572	protein-coding gene	gene with protein product	threonine tRNA ligase 1, cytoplasmic	187790			NA		Standard	NM_152295	NM_152295	NA	Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000455217.2:c.682T>C	5.37:g.33455699T>C	ENSP00000387710:p.Ser228Pro	NA	A8K8I1|Q96FP5|Q9BWA6	37	CCDS58943.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.139242	0.56936	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.08896	3.04;3.04;3.04;3.04;3.04	5.45	5.45	0.79879	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	M	0.90145	3.09	0.80722	D	1	B;D;D;D	0.76494	0.058;0.999;0.993;0.999	B;D;D;D	0.68943	0.035;0.961;0.956;0.944	T	0.39881	-0.9592	10	0.62326	D	0.03	-26.5112	15.5522	0.76161	0.0:0.0:0.0:1.0	.	74;228;91;195	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	P	195;195;91;228;74	ENSP00000424387:S195P;ENSP00000265112:S195P;ENSP00000438469:S91P;ENSP00000387710:S228P;ENSP00000394291:S74P	ENSP00000265112:S195P	S	+	1	0	TARS	33491456	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	8.040000	0.89188	2.084000	0.62774	0.392000	0.25879	TCT	TARS-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366774.1		+	ENST00000455217.2	Missense_Mutation	SNP	5 : 33455699 - 33455699 C PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	343	65
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	T	rs28934874		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr17:7578479G>T	ENST00000420246.2	-	5	583	c.451C>A	c.(451-453)Ccc>Acc	p.P151T	TP53_ENST00000445888.2_Missense_Mutation_p.P151T|TP53_ENST00000413465.2_Missense_Mutation_p.P151T|TP53_ENST00000359597.4_Missense_Mutation_p.P151T|TP53_ENST00000455263.2_Missense_Mutation_p.P151T|TP53_ENST00000269305.4_Missense_Mutation_p.P151T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		CCGGGCGGGGGTGTGGAATCA	0.612		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	156	Substitution - Missense(107)|Deletion - Frameshift(23)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(6)|Unknown(5)	upper_aerodigestive_tract(20)|large_intestine(17)|ovary(16)|lung(15)|oesophagus(12)|endometrium(11)|stomach(9)|breast(9)|central_nervous_system(7)|liver(7)|skin(7)|haematopoietic_and_lymphoid_tissue(5)|soft_tissue(4)|urinary_tract(4)|prostate(4)|bone(4)|vulva(2)|pancreas(2)|biliary_tract(1)	GRCh37	CM012662|CM941326	TP53	M	rs28934874						55	55	55			NA	NA	17		NA											NA				7578479		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.451C>A	17.37:g.7578479G>T	ENSP00000391127:p.Pro151Thr	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	16.48	3.136405	0.56936	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99884	-7.49;-7.49;-7.49;-7.49;-7.49;-7.49;-7.49;-7.49;-7.49	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99894	0.9949	M	0.87038	2.855	0.54753	D	0.999983	D;P;D;D;P;P;D	0.89917	0.999;0.711;0.994;0.982;0.882;0.755;1.0	D;P;D;D;P;P;D	0.97110	0.981;0.749;0.961;0.954;0.736;0.837;1.0	D	0.96419	0.9310	10	0.87932	D	0	-14.1156	17.4784	0.87667	0.0:0.0:1.0:0.0	rs28934874	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151T;ENSP00000352610:P151T;ENSP00000269305:P151T;ENSP00000398846:P151T;ENSP00000391127:P151T;ENSP00000391478:P151T;ENSP00000425104:P19T;ENSP00000423862:P58T;ENSP00000424104:P151T	ENSP00000269305:P151T	P	-	1	0	TP53	7519204	1.000000	0.71417	0.971000	0.41717	0.067000	0.16453	7.823000	0.86660	2.804000	0.96469	0.655000	0.94253	CCC	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7578479 - 7578479 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	299	55
ZDBF2	57683	broad.mit.edu	37	2	207170979	207170979	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr2:207170979C>T	ENST00000374423.3	+	5	2113	c.1727C>T	c.(1726-1728)tCg>tTg	p.S576L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	576							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACTATGGATCGAGTTGTTCT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	88	91			NA	NA	2		NA											NA				207170979		1889	4122	6011	SO:0001583	missense			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186	57683	57683		Zinc fingers, DBF-type	29313	protein-coding gene	gene with protein product					NA	10997877	Standard	NM_020923	XM_005246711	NA	Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1727C>T	2.37:g.207170979C>T	ENSP00000363545:p.Ser576Leu	NA	Q6ZNP7|Q6ZSN8	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389908	0.82902	.	.	ENSG00000204186	ENST00000374423	T	0.45668	0.89	4.33	4.33	0.51752	.	0.000000	0.35805	N	0.002961	T	0.55529	0.1926	L	0.55481	1.735	0.09310	N	1	D	0.76494	0.999	D	0.64506	0.926	T	0.47262	-0.9131	10	0.72032	D	0.01	.	12.6441	0.56725	0.0:1.0:0.0:0.0	.	576	Q9HCK1	ZDBF2_HUMAN	L	576	ENSP00000363545:S576L	ENSP00000363545:S576L	S	+	2	0	ZDBF2	206879224	0.382000	0.25148	0.012000	0.15200	0.605000	0.37080	1.691000	0.37721	2.694000	0.91930	0.650000	0.86243	TCG	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336458.1		+	ENST00000374423.3	Missense_Mutation	SNP	2 : 207170979 - 207170979 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	209	16
ZIC3	7547	broad.mit.edu	37	X	136649486	136649486	+	Silent	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chrX:136649486C>T	ENST00000287538.5	+	1	1186	c.636C>T	c.(634-636)gcC>gcT	p.A212A	ZIC3_ENST00000370606.3_Silent_p.A212A	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	212					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CCTACGCGGCCGGCGCTCAGT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	25	23			NA	NA	X		NA											NA				136649486		2156	4210	6366	SO:0001819	synonymous_variant			AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925	7547	7547		Zinc fingers, C2H2-type	12874	protein-coding gene	gene with protein product		300265	heterotaxy 1, Zic family member 3 (odd-paired homolog, Drosophila)	HTX1	NA	8298651, 7747776	Standard		NM_003413	NA	Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.636C>T	X.37:g.136649486C>T		NA	B2CNW4|Q14DE5	37	CCDS14663.1																																																																																			ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058526.1		+	ENST00000287538.5	Silent	SNP	X : 136649486 - 136649486 T PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	200	22
ZNF141	7700	broad.mit.edu	37	4	367212	367212	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr4:367212A>G	ENST00000240499.7	+	4	1135	c.986A>G	c.(985-987)cAt>cGt	p.H329R	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	329					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CTTACTAAACATAAGAGAATT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	57	55			NA	NA	4		NA											NA				367212		2202	4294	6496	SO:0001583	missense			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127	7700	7700		Zinc fingers, C2H2-type, -	12926	protein-coding gene	gene with protein product		194648	zinc finger protein 141 (clone pHZ-44)	D4S90	NA	8268908	Standard	NM_003441	NM_003441	NA	Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.986A>G	4.37:g.367212A>G	ENSP00000240499:p.His329Arg	NA	Q6DK07	37	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.945443	0.73672	.	.	ENSG00000131127	ENST00000240499	D	0.86865	-2.18	1.24	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94938	0.8363	H	0.98199	4.17	0.29054	N	0.884313	D	0.89917	1.0	D	0.97110	1.0	D	0.87220	0.2253	8	.	.	.	.	6.1877	0.20506	1.0:0.0:0.0:0.0	.	329	Q15928	ZN141_HUMAN	R	329	ENSP00000240499:H329R	.	H	+	2	0	ZNF141	357212	0.991000	0.36638	0.777000	0.31699	0.982000	0.71751	6.242000	0.72376	0.495000	0.27882	0.260000	0.18958	CAT	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357710.1		+	ENST00000240499.7	Missense_Mutation	SNP	4 : 367212 - 367212 G PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	448	41
ZNF681	148213	broad.mit.edu	37	19	23927097	23927097	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr19:23927097C>G	ENST00000402377.3	-	4	1396	c.1255G>C	c.(1255-1257)Gaa>Caa	p.E419Q	ZNF681_ENST00000395385.3_Missense_Mutation_p.E350Q	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TAGGGTTTTTCTCCAGTATGA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	74	73			NA	NA	19		NA											NA				23927097		2203	4300	6503	SO:0001583	missense			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172	148213	148213		Zinc fingers, C2H2-type, -	26457	protein-coding gene	gene with protein product	hypothetical protein FLJ31526				NA		Standard	NM_138286	NM_138286	NA	Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1255G>C	19.37:g.23927097C>G	ENSP00000384000:p.Glu419Gln	NA	B3KVF7	37	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	10.28	1.307625	0.23821	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.25912	1.77;1.77	1.51	1.51	0.23008	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42988	0.1227	L	0.56769	1.78	0.23820	N	0.996755	D	0.89917	1.0	D	0.83275	0.996	T	0.11916	-1.0568	9	0.66056	D	0.02	.	8.4797	0.33034	0.0:1.0:0.0:0.0	.	419	Q96N22	ZN681_HUMAN	Q	419;350	ENSP00000384000:E419Q;ENSP00000378783:E350Q	ENSP00000378783:E350Q	E	-	1	0	ZNF681	23718937	0.277000	0.24220	0.053000	0.19242	0.038000	0.13279	2.609000	0.46317	0.798000	0.33994	0.313000	0.20887	GAA	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320248.2		-	ENST00000402377.3	Missense_Mutation	SNP	19 : 23927097 - 23927097 G PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	309	17
ZSWIM4	65249	broad.mit.edu	37	19	13915898	13915898	+	Silent	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr19:13915898G>A	ENST00000254323.2	+	3	837	c.648G>A	c.(646-648)ctG>ctA	p.L216L	ZSWIM4_ENST00000440752.2_5'UTR	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	216							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CTGAGGTGCTGCCCACTGCTC	0.622		NA									OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	39	41			NA	NA	19		NA											NA				13915898		2203	4300	6503	SO:0001819	synonymous_variant			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003	65249	65249		Zinc fingers, SWIM-type	25704	protein-coding gene	gene with protein product					NA		Standard	XM_031342	NM_023072	NA	Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.648G>A	19.37:g.13915898G>A		691		37	CCDS32924.1																																																																																			ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457457.1		+	ENST00000254323.2	Silent	SNP	19 : 13915898 - 13915898 A PAAD-TCGA-HZ-A4BK-Tumor-SM-47KKP	242	40
