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
ADAM22	53616	broad.mit.edu	37	7	87564445	87564445	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:87564445G>A	ENST00000398204.4	+	2	513	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ADAM22_ENST00000398201.4_Missense_Mutation_p.E64K|ADAM22_ENST00000315984.7_Missense_Mutation_p.E64K|ADAM22_ENST00000265727.7_Missense_Mutation_p.E64K|ADAM22_ENST00000439864.1_Missense_Mutation_p.E64K|ADAM22_ENST00000398209.3_Missense_Mutation_p.E64K	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	64					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CGGCGAAGACGAAAGTCGGCA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	31	30			NA	NA	7		NA											NA				87564445		1957	4123	6080	SO:0001583	missense			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277	53616	53616		ADAM metallopeptidase domain containing	201	protein-coding gene	gene with protein product	metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2	603709	a disintegrin and metalloproteinase domain 22		NA	9693107, 10524237	Standard	NM_021723	NM_021723	NA	Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000398204.4:c.190G>A	7.37:g.87564445G>A	ENSP00000381262:p.Glu64Lys	NA	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	37	CCDS43609.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114188	0.77210	.	.	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000412441;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T;T;T	0.17528	4.45;3.6;2.27;4.45;4.45;4.46;4.46;4.44	4.94	1.94	0.25998	.	0.154004	0.43416	N	0.000575	T	0.30198	0.0757	L	0.55213	1.73	0.24151	N	0.995698	D;D;D;P;P;D	0.76494	0.99;0.979;0.983;0.639;0.94;0.999	P;P;P;B;P;D	0.69142	0.869;0.761;0.846;0.245;0.535;0.962	T	0.02179	-1.1200	10	0.59425	D	0.04	.	8.3943	0.32548	0.0851:0.2937:0.6211:0.0	.	116;64;64;64;64;64	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1;D6W5P7	.;.;ADA22_HUMAN;.;.;.	K	64;64;64;64;64;64;64;31	ENSP00000381262:E64K;ENSP00000391334:E64K;ENSP00000413899:E64K;ENSP00000381260:E64K;ENSP00000265727:E64K;ENSP00000315900:E64K;ENSP00000381267:E64K;ENSP00000381261:E31K	ENSP00000265727:E64K	E	+	1	0	ADAM22	87402381	1.000000	0.71417	0.909000	0.35828	0.748000	0.42578	1.511000	0.35801	0.779000	0.33543	0.655000	0.94253	GAA	ADAM22-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268368.2		+	ENST00000398204.4	Missense_Mutation	SNP	7 : 87564445 - 87564445 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	447	98
ADD3	120	broad.mit.edu	37	10	111876161	111876161	+	Missense_Mutation	SNP	A	A	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr10:111876161A>G	ENST00000277900.8	+	4	844	c.479A>G	c.(478-480)tAt>tGt	p.Y160C	ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Missense_Mutation_p.Y160C|ADD3_ENST00000356080.4_Missense_Mutation_p.Y160C	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	160						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GCAAATACCTATATCTCAGTG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	124	128			NA	NA	10		NA											NA				111876161		2203	4300	6503	SO:0001583	missense			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700	120	120			245	protein-coding gene	gene with protein product		601568		ADDL	NA	8893809	Standard	NM_019903	XM_005269529	NA	Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000277900.8:c.479A>G	10.37:g.111876161A>G	ENSP00000277900:p.Tyr160Cys	NA	D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	37	CCDS7562.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.111684	0.56398	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.21734	1.99;1.99;1.99	5.47	5.47	0.80525	Class II aldolase/adducin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	L	0.35341	1.055	0.80722	D	1	D;B	0.89917	1.0;0.451	D;B	0.91635	0.999;0.363	T	0.05162	-1.0902	10	0.51188	T	0.08	-6.7683	10.76	0.46259	0.8583:0.0:0.0:0.1417	.	160;160	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	C	160	ENSP00000353286:Y160C;ENSP00000348381:Y160C;ENSP00000277900:Y160C	ENSP00000277900:Y160C	Y	+	2	0	ADD3	111866151	1.000000	0.71417	0.712000	0.30502	0.858000	0.48976	7.338000	0.79269	2.083000	0.62718	0.460000	0.39030	TAT	ADD3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050290.1		+	ENST00000277900.8	Missense_Mutation	SNP	10 : 111876161 - 111876161 G PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	263	147
AJAP1	55966	broad.mit.edu	37	1	4772528	4772528	+	Missense_Mutation	SNP	G	G	A	rs138033447		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:4772528G>A	ENST00000378191.4	+	2	979	c.598G>A	c.(598-600)Gtt>Att	p.V200I	AJAP1_ENST00000378190.3_Missense_Mutation_p.V200I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	200	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ATTTCCGGGCGTTTACGGCCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	37	35	35		598,598	-10.1	0	1	dbSNP_134	35	0,8598		0,0,4299	no	missense,missense	AJAP1	NM_001042478.1,NM_018836.3	29,29	0,1,6501	AA,AG,GG	NA	0.0,0.0227,0.0077	benign,benign	200/412,200/412	4772528	1,13003	2203	4299	6502	SO:0001583	missense			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581	55966	55966			30801	protein-coding gene	gene with protein product	transmembrane protein SHREW1	610972			NA	14595118	Standard	NM_018836	NM_001042478	NA	Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.598G>A	1.37:g.4772528G>A	ENSP00000367433:p.Val200Ile	NA	Q9Y229	37	CCDS54.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.194097	0.00026	2.27E-4	0.0	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.40225	1.04;1.04	5.04	-10.1	0.00402	.	1.402030	0.05157	N	0.497146	T	0.11239	0.0274	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09122	-1.0689	10	0.02654	T	1	3.1249	2.9387	0.05823	0.0974:0.3502:0.3527:0.1997	.	200	Q9UKB5	AJAP1_HUMAN	I	200	ENSP00000367432:V200I;ENSP00000367433:V200I	ENSP00000367432:V200I	V	+	1	0	AJAP1	4672388	0.000000	0.05858	0.000000	0.03702	0.200000	0.23975	-3.993000	0.00318	-6.103000	0.00006	-0.657000	0.03884	GTT	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001542.3		+	ENST00000378191.4	Missense_Mutation	SNP	1 : 4772528 - 4772528 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	167	66
AQP7	364	broad.mit.edu	37	9	33386412	33386412	+	Missense_Mutation	SNP	A	A	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr9:33386412A>T	ENST00000537089.1	-	4	438	c.120T>A	c.(118-120)agT>agA	p.S40R	AQP7_ENST00000377425.4_Missense_Mutation_p.S75R|AQP7_ENST00000541274.1_Missense_Mutation_p.S40R|AQP7_ENST00000539936.1_Missense_Mutation_p.S132R			O14520	AQP7_HUMAN	aquaporin 7	132					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TGTAGAAGAGACTGTAGATGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	17	17			NA	NA	9		NA											NA				33386412		2202	4291	6493	SO:0001583	missense			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269	364	364		Ion channels / Aquaporins	640	protein-coding gene	gene with protein product		602974		AQP7L	NA	9252401	Standard	NM_001170	NM_001170	NA	Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.120T>A	9.37:g.33386412A>T	ENSP00000441619:p.Ser40Arg	NA	Q5T5L9|Q8NHM3	37		.	.	.	.	.	.	.	.	.	.	-	5.676	0.309321	0.10733	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000541274;ENST00000379503	T;T;T;T;T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78	4.42	0.357	0.16079	Aquaporin-like (2);	1.736730	0.02728	N	0.114757	T	0.11153	0.0272	L	0.42245	1.32	0.09310	N	0.999999	B;B;B;B;B	0.24768	0.111;0.001;0.001;0.016;0.025	B;B;B;B;B	0.23852	0.049;0.008;0.04;0.026;0.045	T	0.32955	-0.9887	10	0.54805	T	0.06	1.1061	4.4046	0.11402	0.2747:0.0:0.5625:0.1628	.	40;131;132;75;132	B7Z7F6;Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;.;AQP7_HUMAN	R	40;131;132;75;40;131;132;40;68	ENSP00000441619:S40R;ENSP00000368821:S131R;ENSP00000297988:S132R;ENSP00000396111:S75R;ENSP00000410138:S40R;ENSP00000368820:S131R;ENSP00000439534:S132R;ENSP00000438860:S40R;ENSP00000368817:S68R	ENSP00000297988:S132R	S	-	3	2	AQP7	33376412	0.000000	0.05858	0.094000	0.20943	0.055000	0.15305	-0.256000	0.08757	-0.026000	0.13895	-0.141000	0.14075	AGT	AQP7-202	KNOWN	basic	protein_coding	NA	protein_coding			-	ENST00000537089.1	Missense_Mutation	SNP	9 : 33386412 - 33386412 T PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	100	4
ARAF	369	broad.mit.edu	37	X	47426043	47426043	+	Missense_Mutation	SNP	G	G	A	rs66933407		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:47426043G>A	ENST00000377045.4	+	7	757	c.563G>A	c.(562-564)cGc>cAc	p.R188H	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	188					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.R188H(1)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GGCAGCCCCCGCACCCAGCAC	0.622		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)											28	25	26			NA	NA	X		NA											NA				47426043		2202	4299	6501	SO:0001583	missense			X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061	369	369			646	protein-coding gene	gene with protein product		311010	v-raf murine sarcoma 3611 viral oncogene homolog 1	ARAF1	NA		Standard		NM_001654	NA	Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.563G>A	X.37:g.47426043G>A	ENSP00000366244:p.Arg188His	NA	P07557|Q5H9B3	37	CCDS35232.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.341094	0.01277	.	.	ENSG00000078061	ENST00000377045	T	0.74421	-0.84	5.37	2.02	0.26589	.	1.428110	0.03652	N	0.241251	T	0.59729	0.2215	N	0.22421	0.69	0.09310	N	0.999999	P;B	0.34629	0.46;0.0	B;B	0.26517	0.07;0.001	T	0.47209	-0.9135	10	0.29301	T	0.29	.	8.5422	0.33399	0.1819:0.0:0.6845:0.1336	.	188;54	P10398;B4DV85	ARAF_HUMAN;.	H	188	ENSP00000366244:R188H	ENSP00000366244:R188H	R	+	2	0	ARAF	47310987	0.896000	0.30565	0.181000	0.23098	0.004000	0.04260	2.153000	0.42282	0.100000	0.17581	-1.195000	0.01675	CGC	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056418.1		+	ENST00000377045.4	Missense_Mutation	SNP	X : 47426043 - 47426043 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	121	85
ARHGDIB	397	broad.mit.edu	37	12	15095522	15095522	+	Silent	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:15095522G>A	ENST00000228945.4	-	6	684	c.540C>T	c.(538-540)gaC>gaT	p.D180D	ARHGDIB_ENST00000541644.1_Silent_p.D180D|ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541546.1_Silent_p.D180D	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	180					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						GCTTGTCATCGTCGGTGAAGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													266	198	221			NA	NA	12		NA											NA				15095522		2203	4300	6503	SO:0001819	synonymous_variant			L07916	CCDS8671.1	12p12.3	2014-01-30				ENSG00000111348	397	397		Endogenous ligands	679	protein-coding gene	gene with protein product		602843		RAP1GN1, GDIA2, GDID4	NA	8434008, 8356058	Standard	NM_001175	NM_001175	NA	Approved	Ly-GDI, RhoGDI2	uc001rcq.1	P52566		ENST00000228945.4:c.540C>T	12.37:g.15095522G>A		NA	B5BU79	37	CCDS8671.1	.	.	.	.	.	.	.	.	.	.	G	8.275	0.814158	0.16537	.	.	ENSG00000111348	ENST00000536592	.	.	.	4.73	-9.03	0.00737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.6554	19.0707	0.93134	0.8544:0.0:0.1456:0.0	.	.	.	.	X	174	.	.	R	-	1	2	ARHGDIB	14986789	0.273000	0.24181	0.064000	0.19789	0.971000	0.66376	-0.294000	0.08309	-2.089000	0.00860	-0.145000	0.13849	CGA	ARHGDIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400871.1		-	ENST00000228945.4	Silent	SNP	12 : 15095522 - 15095522 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	913	662
ARHGEF17	9828	broad.mit.edu	37	11	73076866	73076866	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:73076866C>T	ENST00000263674.3	+	20	6219	c.5869C>T	c.(5869-5871)Cgg>Tgg	p.R1957W		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1957					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAGCTGCCCACGGGCACCACT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	58	59			NA	NA	11		NA											NA				73076866		2200	4293	6493	SO:0001583	missense			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237	9828	9828		Rho guanine nucleotide exchange factors	21726	protein-coding gene	gene with protein product	Rho-specific guanine-nucleotide exchange factor 164 kDa, tumor endothelial marker 4				NA	11559528, 12071859	Standard	NM_014786	NM_014786	NA	Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.5869C>T	11.37:g.73076866C>T	ENSP00000263674:p.Arg1957Trp	NA	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	37	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617632	0.46736	.	.	ENSG00000110237	ENST00000263674	T	0.36340	1.26	5.28	4.36	0.52297	WD40 repeat-like-containing domain (1);	0.133526	0.50627	D	0.000118	T	0.48874	0.1524	L	0.53249	1.67	0.19300	N	0.999979	D	0.89917	1.0	D	0.64687	0.928	T	0.34976	-0.9807	10	0.52906	T	0.07	-20.421	8.7897	0.34843	0.4108:0.4532:0.1361:0.0	.	1957	Q96PE2	ARHGH_HUMAN	W	1957	ENSP00000263674:R1957W	ENSP00000263674:R1957W	R	+	1	2	ARHGEF17	72754514	0.256000	0.24012	0.269000	0.24586	0.573000	0.36030	1.436000	0.34980	1.442000	0.47568	0.655000	0.94253	CGG	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397365.1		+	ENST00000263674.3	Missense_Mutation	SNP	11 : 73076866 - 73076866 T PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	360	110
CDKN2A	1029	broad.mit.edu	37	9	21974782	21974782	+	Nonsense_Mutation	SNP	C	C	T	rs138677674		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr9:21974782C>T	ENST00000304494.5	-	1	315	c.45G>A	c.(43-45)tgG>tgA	p.W15*	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W15*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	15					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.W15*(3)|p.S12fs*6(1)|p.L16fs*9(1)|p.0(1)|p.S7_A19del(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGTGGCCAGCCAGTCAGCCG	0.756		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1346	Whole gene deletion(1316)|Unknown(23)|Substitution - Nonsense(3)|Deletion - Frameshift(3)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(279)|skin(168)|central_nervous_system(164)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(58)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(47)|ovary(34)|kidney(31)|pancreas(31)|breast(30)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CM994496	CDKN2A	M	rs138677674						13	16	15			NA	NA	9		NA											NA				21974782		1680	3539	5219	SO:0001587	stop_gained			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889	1029	1029			1787	protein-coding gene	gene with protein product		600160	cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	CDKN2, MLM	NA	8152487, 7606716	Standard	NM_000077	NM_058195	NA	Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.45G>A	9.37:g.21974782C>T	ENSP00000307101:p.Trp15*	NA	D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	37	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307496	0.81247	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	4.89	3.01	0.34805	.	.	.	.	.	.	.	.	.	.	.	0.23802	N	0.996805	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	10.1873	0.43006	0.0:0.8197:0.0:0.1803	.	.	.	.	X	15	.	ENSP00000307101:W15X	W	-	3	0	CDKN2A	21964782	0.000000	0.05858	0.013000	0.15412	0.019000	0.09904	-0.767000	0.04720	1.375000	0.46248	0.655000	0.94253	TGG	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051915.1		-	ENST00000304494.5	Nonsense_Mutation	SNP	9 : 21974782 - 21974782 T PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	303	188
CDKN2A	1029	broad.mit.edu	37	9	21974786	21974786	+	Missense_Mutation	SNP	T	T	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr9:21974786T>C	ENST00000304494.5	-	1	311	c.41A>G	c.(40-42)gAc>gGc	p.D14G	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D14G|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D14G|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D14G	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	14			D -> E (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.S12fs*6(1)|p.0(1)|p.D14V(1)|p.S7_A19del(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGCCAGCCAGTCAGCCGAAGG	0.761		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1343	Whole gene deletion(1316)|Unknown(23)|Deletion - Frameshift(2)|Substitution - Missense(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(279)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|pancreas(30)|breast(30)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											12	16	14			NA	NA	9		NA											NA				21974786		1694	3580	5274	SO:0001583	missense			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889	1029	1029			1787	protein-coding gene	gene with protein product		600160	cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	CDKN2, MLM	NA	8152487, 7606716	Standard	NM_000077	NM_058195	NA	Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.41A>G	9.37:g.21974786T>C	ENSP00000307101:p.Asp14Gly	NA	D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	37	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.963636	0.74016	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.76316	-0.89;-1.01	4.89	3.73	0.42828	Ankyrin repeat-containing domain (1);	.	.	.	.	D	0.83547	0.5278	M	0.77820	2.39	0.80722	D	1	P;D	0.76494	0.889;0.999	B;D	0.63033	0.372;0.91	T	0.80719	-0.1257	9	0.14656	T	0.56	.	10.2816	0.43543	0.0:0.0:0.1662:0.8338	.	14;14	P42771;G3XAG3	CD2A1_HUMAN;.	G	14	ENSP00000307101:D14G;ENSP00000394932:D14G	ENSP00000307101:D14G	D	-	2	0	CDKN2A	21964786	0.360000	0.24964	0.062000	0.19696	0.010000	0.07245	1.361000	0.34136	0.966000	0.38159	-0.313000	0.08912	GAC	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051915.1		-	ENST00000304494.5	Missense_Mutation	SNP	9 : 21974786 - 21974786 C PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	293	182
CELSR3	1951	broad.mit.edu	37	3	48699138	48699138	+	Silent	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:48699138C>T	ENST00000164024.4	-	1	1210	c.930G>A	c.(928-930)gcG>gcA	p.A310A	CELSR3_ENST00000544264.1_Silent_p.A310A	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	310					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.A310A(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGCCCGGTTCGCCGAGGTTA	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											37	42	40			NA	NA	3		NA											NA				48699138		2184	4249	6433	SO:0001819	synonymous_variant			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300	1951	1951		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3230	protein-coding gene	gene with protein product	flamingo homolog 1 (Drosophila)	604264	cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog	EGFL1	NA	9693030	Standard	NM_001407	NM_001407	NA	Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.930G>A	3.37:g.48699138C>T		NA	O75092	37	CCDS2775.1																																																																																			CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257523.1		-	ENST00000164024.4	Silent	SNP	3 : 48699138 - 48699138 T PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	694	111
CLCN5	1184	broad.mit.edu	37	X	49854844	49854844	+	Missense_Mutation	SNP	G	G	A	rs138935720		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:49854844G>A	ENST00000376088.3	+	13	2457	c.1816G>A	c.(1816-1818)Gtg>Atg	p.V606M	CLCN5_ENST00000307367.2_Missense_Mutation_p.V536M|CLCN5_ENST00000376091.3_Missense_Mutation_p.V606M|CLCN5_ENST00000376108.3_Missense_Mutation_p.V536M	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	536	CBS 1.				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					AGAATACATCGTGCCTCTGAT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	138	142			NA	NA	X		NA											NA				49854844		2203	4300	6503	SO:0001583	missense			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365	1184	1184		Ion channels / Chloride channels : Voltage-sensitive	2023	protein-coding gene	gene with protein product	Dent disease	300008	nephrolithiasis 2, X-linked, nephrolithiasis 1 (X-linked), chloride channel 5	NPHL2, NPHL1	NA	7874126, 8111383, 8099916, 8559248, 9602200	Standard		NM_001272102	NA	Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000376088.3:c.1816G>A	X.37:g.49854844G>A	ENSP00000365256:p.Val606Met	NA	A1L475|Q5JQD5	37	CCDS48115.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566129	0.86439	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52	5.79	5.79	0.91817	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.83275	0.921;0.996	D	0.98214	1.0474	10	0.62326	D	0.03	-0.1014	17.6718	0.88220	0.0:0.0:1.0:0.0	.	536;606	P51795;P51795-2	CLCN5_HUMAN;.	M	606;438;606;536;536	ENSP00000365256:V606M;ENSP00000365259:V606M;ENSP00000365276:V536M;ENSP00000304257:V536M	ENSP00000304257:V536M	V	+	1	0	CLCN5	49741584	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.705000	0.98719	2.445000	0.82738	0.600000	0.82982	GTG	CLCN5-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056542.2		+	ENST00000376088.3	Missense_Mutation	SNP	X : 49854844 - 49854844 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	775	422
CLU	1191	broad.mit.edu	37	8	27463908	27463908	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr8:27463908C>T	ENST00000316403.10	-	4	785	c.380G>A	c.(379-381)cGc>cAc	p.R127H	CLU_ENST00000405140.3_Missense_Mutation_p.R127H|CLU_ENST00000523500.1_Missense_Mutation_p.R127H|CLU_ENST00000560366.1_Missense_Mutation_p.R179H|CLU_ENST00000546343.1_Missense_Mutation_p.R138H			P10909	CLUS_HUMAN	clusterin	127					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TCTGCAGACGCGTGCGTAGAA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	118	123			NA	NA	8		NA											NA				27463908		2203	4300	6503	SO:0001583	missense			M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885	1191	1191			2095	protein-coding gene	gene with protein product	complement lysis inhibitor, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J	185430	clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)	CLI, APOJ	NA	1585460	Standard	NM_001831	NR_038335	NA	Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.380G>A	8.37:g.27463908C>T	ENSP00000315130:p.Arg127His	NA	B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	37	CCDS47832.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775112	0.70107	.	.	ENSG00000120885	ENST00000316403;ENST00000546343;ENST00000405140;ENST00000523500;ENST00000523589;ENST00000520796;ENST00000519742;ENST00000520491;ENST00000522413	T;T;T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67	5.52	2.27	0.28462	Clusterin, N-terminal (1);	0.111708	0.52532	D	0.000064	T	0.40322	0.1112	M	0.78637	2.42	0.09310	N	1	D;D;D	0.58620	0.979;0.979;0.983	P;P;P	0.51974	0.558;0.558;0.686	T	0.29088	-1.0023	10	0.87932	D	0	-8.8843	5.2716	0.15628	0.0:0.5819:0.1628:0.2554	.	179;138;127	P10909-2;P10909-5;P10909	.;.;CLUS_HUMAN	H	179;138;127;127;127;127;127;127;127	ENSP00000446413:R138H;ENSP00000385419:R127H;ENSP00000429620:R127H;ENSP00000431070:R127H;ENSP00000429336:R127H;ENSP00000431026:R127H;ENSP00000429881:R127H;ENSP00000428779:R127H	ENSP00000315130:R179H	R	-	2	0	CLU	27519825	0.005000	0.15991	0.034000	0.17996	0.973000	0.67179	1.095000	0.30964	0.687000	0.31509	0.655000	0.94253	CGC	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219953.3		-	ENST00000316403.10	Missense_Mutation	SNP	8 : 27463908 - 27463908 T PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	625	9
COX8C	341947	broad.mit.edu	37	14	93813699	93813699	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr14:93813699G>A	ENST00000342144.2	+	1	163	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	UNC79_ENST00000256339.4_Intron	NM_182971.2	NP_892016.1	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIC	29						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity			large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		TCCCCGCTTCGCCCACTCGGG	0.756		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(134;630 1800 8342 13106 15419)							NA				0													9	10	10			NA	NA	14		NA											NA				93813699		2162	4150	6312	SO:0001583	missense			AY161004	CCDS9910.1	14q32.13	2011-07-04	2011-05-25			ENSG00000187581	341947	341947		Mitochondrial respiratory chain complex / Complex IV	24382	protein-coding gene	gene with protein product	cytochrome c oxidase subunit VIII isoform 3		cytochrome c oxidase subunit 8C		NA	12909344	Standard	NM_182971	NM_182971	NA	Approved	COX8-3	uc001ybt.1	Q7Z4L0		ENST00000342144.2:c.85G>A	14.37:g.93813699G>A	ENSP00000340568:p.Ala29Thr	NA	Q495K7	37	CCDS9910.1	.	.	.	.	.	.	.	.	.	.	G	7.584	0.669319	0.14776	.	.	ENSG00000187581	ENST00000342144	.	.	.	2.6	-2.3	0.06785	.	.	.	.	.	T	0.26448	0.0646	.	.	.	0.09310	N	1	B	0.15719	0.014	B	0.16289	0.015	T	0.26430	-1.0103	7	0.62326	D	0.03	.	3.5519	0.07850	0.4705:0.2318:0.2978:0.0	.	29	Q7Z4L0	COX8C_HUMAN	T	29	.	ENSP00000340568:A29T	A	+	1	0	COX8C	92883452	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.535000	0.02210	-0.438000	0.07232	-0.361000	0.07541	GCC	COX8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412769.1		+	ENST00000342144.2	Missense_Mutation	SNP	14 : 93813699 - 93813699 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	134	6
CUX1	1523	broad.mit.edu	37	7	101870648	101870648	+	Splice_Site	SNP	A	A	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:101870648A>C	ENST00000560541.1	+	14	1843				CUX1_ENST00000546411.2_Splice_Site_p.E942D|CUX1_ENST00000550008.2_Splice_Site_p.E988D|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292535.7_Splice_Site_p.E1044D|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Splice_Site_p.E886D|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Splice_Site_p.E1055D|CUX1_ENST00000549414.2_Splice_Site_p.E1022D|CUX1_ENST00000292538.4_Intron			P39880	CUX1_HUMAN	cut-like homeobox 1	NA					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TAATTACAGAAAGCACTCCAA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	104	100			NA	NA	7		NA											NA				101870648		2203	4298	6501	SO:0001627	intron_variant			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923	1523	1523		Homeoboxes / CUT class	2557	protein-coding gene	gene with protein product	golgi integral membrane protein 6	116896	cut (Drosophila)-like 1 (CCAAT displacement protein), cut-like 1, CCAAT displacement protein (Drosophila)	CUTL1	NA	8468066, 9799793, 15004235	Standard	NM_001913	NM_001202543	NA	Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000560541.1:c.1843+31765A>C	7.37:g.101870648A>C		NA	Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	37		.	.	.	.	.	.	.	.	.	.	A	14.04	2.417793	0.42918	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.60797	0.18;0.17;0.17;0.16;0.17;0.16	5.67	0.0822	0.14428	.	0.111571	0.64402	D	0.000015	T	0.37972	0.1023	L	0.43152	1.355	0.53688	D	0.999971	B;B	0.06786	0.001;0.0	B;B	0.09377	0.003;0.004	T	0.07654	-1.0761	10	0.21540	T	0.41	.	2.1663	0.03838	0.5209:0.1682:0.2064:0.1045	.	1044;1055	P39880;P39880-3	CUX1_HUMAN;.	D	1055;1044;1022;988;942;886	ENSP00000353401:E1055D;ENSP00000292535:E1044D;ENSP00000446630:E1022D;ENSP00000447373:E988D;ENSP00000450125:E942D;ENSP00000451558:E886D	ENSP00000292535:E1044D	E	+	3	2	CUX1	101657368	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.791000	0.38744	0.402000	0.25451	0.533000	0.62120	GAA	CUX1-019	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000418419.1		+	ENST00000560541.1	Intron	SNP	7 : 101870648 - 101870648 C PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	2009	941
DEPDC1	55635	broad.mit.edu	37	1	68952619	68952619	+	Splice_Site	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:68952619C>A	ENST00000456315.2	-	6	884		c.e6+1		DEPDC1_ENST00000370966.5_Splice_Site	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	NA					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ATTTAACTTACAATTTGCTAG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	55	54			NA	NA	1		NA											NA				68952619		2202	4299	6501	SO:0001630	splice_region_variant			AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526	55635	55635			22949	protein-coding gene	gene with protein product		612002			NA		Standard	NM_017779	NM_001114120	NA	Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.769+1G>T	1.37:g.68952619C>A		NA	A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	37	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196068	0.78902	.	.	ENSG00000024526	ENST00000456315;ENST00000370966;ENST00000370964	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1258	0.93384	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DEPDC1	68725207	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.994000	0.76251	2.534000	0.85438	0.585000	0.79938	.	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025514.2	Intron	-	ENST00000456315.2	Splice_Site	SNP	1 : 68952619 - 68952619 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	483	148
DLL1	28514	broad.mit.edu	37	6	170597430	170597430	+	Silent	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr6:170597430G>A	ENST00000366756.3	-	4	900	c.567C>T	c.(565-567)tcC>tcT	p.S189S		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	189	DSL.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GGCAGAAAACGGAGCAGCCCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	71	76			NA	NA	6		NA											NA				170597430		2203	4300	6503	SO:0001819	synonymous_variant			AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719	28514	28514			2908	protein-coding gene	gene with protein product		606582	delta (Drosophila)-like 1		NA		Standard		NM_005618	NA	Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.567C>T	6.37:g.170597430G>A		NA	B2RAK7|Q9NU41|Q9UJV2	37	CCDS5313.1																																																																																			DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043254.1		-	ENST00000366756.3	Silent	SNP	6 : 170597430 - 170597430 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	363	169
DUSP6	1848	broad.mit.edu	37	12	89743153	89743153	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:89743153C>A	ENST00000279488.7	-	3	2255	c.1024G>T	c.(1024-1026)Gac>Tac	p.D342Y	DUSP6_ENST00000308385.6_Missense_Mutation_p.D196Y|DUSP6_ENST00000547291.1_Missense_Mutation_p.D217Y	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	342	Tyrosine-protein phosphatase.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CTCTCGAAGTCCAGCAGCTGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(132;3456 5224)							NA				0													165	155	159			NA	NA	12		NA											NA				89743153		2203	4300	6503	SO:0001583	missense			BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318	1848	1848		Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases	3072	protein-coding gene	gene with protein product		602748			NA	8626780, 9205128	Standard	NM_001946, NM_022652	NM_001946	NA	Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.1024G>T	12.37:g.89743153C>A	ENSP00000279488:p.Asp342Tyr	NA	O75109|Q53Y75|Q9BSH6	37	CCDS9033.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333073	0.81801	.	.	ENSG00000139318	ENST00000279488;ENST00000308385;ENST00000547291	D;D;D	0.86030	-2.06;-2.06;-2.06	5.98	5.98	0.97165	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.93874	0.8040	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	D	0.93919	0.7204	10	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	196;342	Q16828-2;Q16828	.;DUS6_HUMAN	Y	342;196;217	ENSP00000279488:D342Y;ENSP00000307835:D196Y;ENSP00000449838:D217Y	ENSP00000279488:D342Y	D	-	1	0	DUSP6	88267284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.745000	0.85046	2.835000	0.97688	0.650000	0.86243	GAC	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406534.2		-	ENST00000279488.7	Missense_Mutation	SNP	12 : 89743153 - 89743153 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	589	321
FAN1	22909	broad.mit.edu	37	15	31202898	31202898	+	Missense_Mutation	SNP	T	T	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr15:31202898T>G	ENST00000362065.4	+	4	1748	c.1457T>G	c.(1456-1458)tTg>tGg	p.L486W	FAN1_ENST00000565466.1_Missense_Mutation_p.L486W|FAN1_ENST00000561607.1_Missense_Mutation_p.L486W|FAN1_ENST00000561594.1_Missense_Mutation_p.L486W	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	486					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTTCCACTTGGTGAATCCC	0.448		NA						Direct reversal of damage						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	77	78			NA	NA	15		NA											NA				31202898		2202	4300	6502	SO:0001583	missense				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690	22909	22909			29170	protein-coding gene	gene with protein product		613534	KIAA1018, myotubularin related protein 15	KIAA1018, MTMR15	NA	20603015, 20603016, 20603073	Standard	NM_014967	NM_014967	NA	Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1457T>G	15.37:g.31202898T>G	ENSP00000354497:p.Leu486Trp	NA	A8K4M2|Q86WU8	37	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.242576	0.79912	.	.	ENSG00000198690	ENST00000362065	T	0.60171	0.21	5.25	5.25	0.73442	.	0.079530	0.50627	D	0.000110	T	0.77205	0.4096	M	0.84219	2.685	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.992;0.999	T	0.81145	-0.1066	10	0.87932	D	0	-5.2232	13.7136	0.62682	0.0:0.0:0.0:1.0	.	486;486;486	Q9Y2M0;D9MXF4;Q9Y2M0-2	FAN1_HUMAN;.;.	W	486	ENSP00000354497:L486W	ENSP00000354497:L486W	L	+	2	0	FAN1	28990190	1.000000	0.71417	0.119000	0.21687	0.905000	0.53344	7.698000	0.84413	1.995000	0.58328	0.455000	0.32223	TTG	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430740.1		+	ENST00000362065.4	Missense_Mutation	SNP	15 : 31202898 - 31202898 G PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	424	50
FCGBP	8857	broad.mit.edu	37	19	40363276	40363276	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:40363276C>T	ENST00000221347.6	-	32	14801	c.14794G>A	c.(14794-14796)Gag>Aag	p.E4932K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4932	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCACAGCCTCGCCGTCCACG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	18	17			NA	NA	19		NA											NA				40363276		2175	4261	6436	SO:0001583	missense			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395	8857	8857			13572	protein-coding gene	gene with protein product	IgG Fc binding protein, Human Fc gamma BP				NA	9182547	Standard	NM_003890	NM_003890	NA	Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14794G>A	19.37:g.40363276C>T	ENSP00000221347:p.Glu4932Lys	NA	O95784	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591238	0.28357	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	5.05	4.0	0.46444	von Willebrand factor, type D domain (3);	0.000000	0.64402	U	0.000001	T	0.58595	0.2133	L	0.48642	1.525	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.50482	-0.8823	10	0.06891	T	0.86	.	11.216	0.48827	0.0:0.8151:0.1849:0.0	.	4932	Q9Y6R7	FCGBP_HUMAN	K	4932	ENSP00000221347:E4932K	ENSP00000221347:E4932K	E	-	1	0	FCGBP	45055116	0.037000	0.19845	0.071000	0.20095	0.946000	0.59487	3.060000	0.49955	1.326000	0.45319	0.313000	0.20887	GAG	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462507.1		-	ENST00000221347.6	Missense_Mutation	SNP	19 : 40363276 - 40363276 T PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	233	119
FLNA	2316	broad.mit.edu	37	X	153587767	153587767	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:153587767C>A	ENST00000344736.4	-	24	4192	c.4150G>T	c.(4150-4152)Ggc>Tgc	p.G1384C	FLNA_ENST00000369850.3_Missense_Mutation_p.G1384C|FLNA_ENST00000422373.1_Missense_Mutation_p.G1384C|FLNA_ENST00000360319.4_Missense_Mutation_p.G1384C			P21333	FLNA_HUMAN	filamin A, alpha	1384					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGCCCGTGCCAGCTCCCCTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	101	97			NA	NA	X		NA											NA				153587767		1965	4125	6090	SO:0001583	missense			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924	NA	2316			3754	protein-coding gene	gene with protein product	actin binding protein 280	300017	filamin A, alpha (actin binding protein 280)	FLN1, FLN, OPD2, OPD1	NA	8406501, 12612583	Standard		NM_001456	NA	Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000344736.4:c.4150G>T	X.37:g.153587767C>A	ENSP00000358863:p.Gly1384Cys	NA	Q5HY53|Q5HY55|Q8NF52	37		.	.	.	.	.	.	.	.	.	.	C	22.3	4.277760	0.80692	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	5.36	5.36	0.76844	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98353	0.9453	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99811	1.1041	10	0.87932	D	0	.	18.1702	0.89743	0.0:1.0:0.0:0.0	.	1384;1384	P21333-2;P21333	.;FLNA_HUMAN	C	1384;1357;1384;1384;1384	ENSP00000353467:G1384C;ENSP00000416926:G1384C;ENSP00000358866:G1384C;ENSP00000358863:G1384C	ENSP00000358863:G1384C	G	-	1	0	FLNA	153240961	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.788000	0.85771	2.229000	0.72834	0.600000	0.82982	GGC	FLNA-010	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000130295.1		-	ENST00000344736.4	Missense_Mutation	SNP	X : 153587767 - 153587767 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	1143	569
GRID2	2895	broad.mit.edu	37	4	94006305	94006305	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:94006305G>A	ENST00000282020.4	+	3	662	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	135					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGACTCACCCGGAGCAACAGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	98	102			NA	NA	4		NA											NA				94006305		2203	4300	6503	SO:0001583	missense			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208	2895	2895		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4576	protein-coding gene	gene with protein product		602368			NA	9465309	Standard		NM_001510	NA	Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.404G>A	4.37:g.94006305G>A	ENSP00000282020:p.Arg135Gln	NA	Q4KKU9|Q4KKV0|Q59FZ1	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783512	0.70222	.	.	ENSG00000152208	ENST00000282020	D	0.85955	-2.05	5.23	5.23	0.72850	Extracellular ligand-binding receptor (1);	0.168825	0.50627	D	0.000117	T	0.75324	0.3834	N	0.14661	0.345	0.80722	D	1	P;P	0.46987	0.888;0.888	B;B	0.40009	0.185;0.316	T	0.75351	-0.3348	10	0.25106	T	0.35	.	19.1731	0.93588	0.0:0.0:1.0:0.0	.	135;76	O43424;B4DYB9	GRID2_HUMAN;.	Q	135	ENSP00000282020:R135Q	ENSP00000282020:R135Q	R	+	2	0	GRID2	94225328	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	3.748000	0.55142	2.613000	0.88420	0.655000	0.94253	CGG	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253588.2		+	ENST00000282020.4	Missense_Mutation	SNP	4 : 94006305 - 94006305 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	479	235
HR	55806	broad.mit.edu	37	8	21986391	21986391	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr8:21986391C>T	ENST00000381418.4	-	2	1773	c.293G>A	c.(292-294)cGc>cAc	p.R98H	HR_ENST00000312841.8_Missense_Mutation_p.R98H	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	98							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTCCTTCCAGCGCAGTCCCTC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	52	53			NA	NA	8		NA											NA				21986391		2202	4300	6502	SO:0001583	missense			AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453	55806	55806			5172	protein-coding gene	gene with protein product		602302	hairless (mouse) homolog, hairless homolog (mouse)	ALUNC	NA	10051399, 9463324	Standard		NM_018411	NA	Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.293G>A	8.37:g.21986391C>T	ENSP00000370826:p.Arg98His	NA	Q6GS30|Q96H33|Q9NPE1	37	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344423	0.41498	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.74106	-0.8;-0.81	4.72	2.85	0.33270	.	0.160475	0.29692	N	0.011458	T	0.59459	0.2195	L	0.34521	1.04	0.27888	N	0.939439	B;B;B	0.18741	0.023;0.03;0.017	B;B;B	0.14578	0.004;0.011;0.005	T	0.52852	-0.8520	10	0.51188	T	0.08	-7.088	6.2548	0.20867	0.0:0.7605:0.0:0.2395	.	98;98;98	A6NCE3;O43593-2;O43593	.;.;HAIR_HUMAN	H	98	ENSP00000370826:R98H;ENSP00000326765:R98H	ENSP00000326765:R98H	R	-	2	0	HR	22042336	0.048000	0.20356	0.996000	0.52242	0.905000	0.53344	-0.070000	0.11523	0.549000	0.28973	-0.258000	0.10820	CGC	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214213.1		-	ENST00000381418.4	Missense_Mutation	SNP	8 : 21986391 - 21986391 T PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	383	36
IGSF8	93185	broad.mit.edu	37	1	160063798	160063798	+	Missense_Mutation	SNP	A	A	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:160063798A>C	ENST00000368086.1	-	3	822	c.606T>G	c.(604-606)ttT>ttG	p.F202L	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.F202L			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	202	Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAGATCGCCCAAAGGACACTG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	89	91			NA	NA	1		NA											NA				160063798		2203	4300	6503	SO:0001583	missense			AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729	93185	93185		CD molecules, Immunoglobulin superfamily / V-set domain containing	17813	protein-coding gene	gene with protein product		606644			NA	11504738, 11673522	Standard	NM_052868	NM_001206665	NA	Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.606T>G	1.37:g.160063798A>C	ENSP00000357065:p.Phe202Leu	NA	Q8NG09|Q96DP4|Q9BTG9	37	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.297471	0.60086	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.21932	1.98;1.98;1.98	3.88	-1.42	0.08913	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.156351	0.41938	D	0.000796	T	0.14356	0.0347	L	0.29908	0.895	0.48830	D	0.999713	D	0.76494	0.999	D	0.80764	0.994	T	0.14420	-1.0473	10	0.72032	D	0.01	-3.709	5.1525	0.15017	0.4767:0.1584:0.3649:0.0	.	202	Q969P0	IGSF8_HUMAN	L	202	ENSP00000316664:F202L;ENSP00000357065:F202L;ENSP00000397464:F202L	ENSP00000316664:F202L	F	-	3	2	IGSF8	158330422	0.968000	0.33430	0.906000	0.35671	0.836000	0.47400	0.137000	0.15995	-0.375000	0.07955	-0.438000	0.05819	TTT	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060636.1		-	ENST00000368086.1	Missense_Mutation	SNP	1 : 160063798 - 160063798 C PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	701	225
IL12B	3593	broad.mit.edu	37	5	158750144	158750144	+	Silent	SNP	G	G	A	rs142017503		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr5:158750144G>A	ENST00000231228.2	-	3	737	c.282C>T	c.(280-282)ggC>ggT	p.G94G		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	94	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTAGAACCTCGCCTCCTTTGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4406		0,0,2203	92	86	88		282	-3.3	0	5	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IL12B	NM_002187.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		94/329	158750144	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302	3593	3593		Interleukins and interleukin receptors, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5970	protein-coding gene	gene with protein product	natural killer cell stimulatory factor-2, cytotoxic lymphocyte maturation factor 2, p40, interleukin 12, p40, natural killer cell stimulatory factor, 40 kD subunit, interleukin-12 beta chain, IL12, subunit p40	161561	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	NKSF2	NA	1673147	Standard	NM_002187	NM_002187	NA	Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.282C>T	5.37:g.158750144G>A		NA		37	CCDS4346.1																																																																																			IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252652.2		-	ENST00000231228.2	Silent	SNP	5 : 158750144 - 158750144 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	380	133
KIAA0753	9851	broad.mit.edu	37	17	6524291	6524291	+	Missense_Mutation	SNP	G	G	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:6524291G>T	ENST00000361413.3	-	7	1490	c.1132C>A	c.(1132-1134)Ctg>Atg	p.L378M	KIAA0753_ENST00000542606.1_Missense_Mutation_p.L79M|KIAA0753_ENST00000572370.1_Missense_Mutation_p.L79M	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	378						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TTTGGTGACAGTTTCTTTTCC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	73	75			NA	NA	17		NA											NA				6524291		1816	4081	5897	SO:0001583	missense				CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920	9851	9851			29110	protein-coding gene	gene with protein product					NA	24613305	Standard	NM_014804	NM_014804	NA	Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1132C>A	17.37:g.6524291G>T	ENSP00000355250:p.Leu378Met	NA	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	37	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762832	0.49574	.	.	ENSG00000198920	ENST00000361413;ENST00000542606	D;D	0.86097	-2.07;-2.07	4.92	-2.02	0.07388	.	0.834405	0.10821	N	0.630533	T	0.78723	0.4328	M	0.73962	2.25	0.30728	N	0.747561	P	0.35348	0.496	B	0.34242	0.178	T	0.70296	-0.4911	10	0.40728	T	0.16	-6.0575	0.8618	0.01194	0.3899:0.16:0.2866:0.1635	.	378	Q2KHM9	K0753_HUMAN	M	378;79	ENSP00000355250:L378M;ENSP00000444634:L79M	ENSP00000355250:L378M	L	-	1	2	KIAA0753	6465015	0.161000	0.22892	0.420000	0.26596	0.995000	0.86356	0.497000	0.22514	-0.171000	0.10797	0.460000	0.39030	CTG	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439769.3		-	ENST00000361413.3	Missense_Mutation	SNP	17 : 6524291 - 6524291 T PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	255	17
KLHDC8A	55220	broad.mit.edu	37	1	205312365	205312365	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:205312365G>A	ENST00000367156.3	-	5	1184	c.368C>T	c.(367-369)aCg>aTg	p.T123M	KLHDC8A_ENST00000539253.1_Missense_Mutation_p.T123M|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.T123M|KLHDC8A_ENST00000460687.1_Intron	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	123										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCCTTTGGCCGTGACAGAAAT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	65	65			NA	NA	1		NA											NA				205312365		2196	4288	6484	SO:0001583	missense				CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873	55220	55220			25573	protein-coding gene	gene with protein product		614503			NA		Standard	NM_018203	NM_018203	NA	Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.368C>T	1.37:g.205312365G>A	ENSP00000356124:p.Thr123Met	NA	B3KU70|Q9NVG5	37	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461883	0.63513	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253	T;T;T	0.67865	-0.29;-0.29;-0.29	5.65	5.65	0.86999	Kelch-type beta propeller (1);	0.147910	0.64402	D	0.000012	T	0.67813	0.2933	L	0.59436	1.845	0.53688	D	0.999975	D	0.56287	0.975	B	0.43225	0.412	T	0.72931	-0.4142	10	0.66056	D	0.02	-13.9286	19.3222	0.94246	0.0:0.0:1.0:0.0	.	123	Q8IYD2	KLD8A_HUMAN	M	123	ENSP00000356123:T123M;ENSP00000356124:T123M;ENSP00000442229:T123M	ENSP00000356123:T123M	T	-	2	0	KLHDC8A	203578988	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.523000	0.67099	2.646000	0.89796	0.655000	0.94253	ACG	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090397.1		-	ENST00000367156.3	Missense_Mutation	SNP	1 : 205312365 - 205312365 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	542	278
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	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>T	12.37:g.25398284C>A	ENSP00000308495:p.Gly12Val	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	103	71
LRIF1	55791	broad.mit.edu	37	1	111494596	111494596	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:111494596G>A	ENST00000369763.4	-	2	1300	c.910C>T	c.(910-912)Ctt>Ttt	p.L304F	LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						ACAGGAACAAGAGATGGCGTA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	85	86			NA	NA	1		NA											NA				111494596		2203	4300	6503	SO:0001583	missense			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931	55791	55791			30299	protein-coding gene	gene with protein product	receptor interacting factor 1	615354	chromosome 1 open reading frame 103	C1orf103	NA	17455211	Standard	NM_018372	NM_018372	NA	Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.910C>T	1.37:g.111494596G>A	ENSP00000358778:p.Leu304Phe	NA	Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	37	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056465	0.55325	.	.	ENSG00000121931	ENST00000369763	T	0.53423	0.62	5.78	4.86	0.63082	.	0.075569	0.53938	D	0.000052	T	0.45776	0.1359	L	0.34521	1.04	0.80722	D	1	D	0.67145	0.996	D	0.65323	0.934	T	0.53443	-0.8438	10	0.72032	D	0.01	-4.3713	14.218	0.65807	0.0:0.0:0.8501:0.1499	.	304	Q5T3J3	LRIF1_HUMAN	F	304	ENSP00000358778:L304F	ENSP00000358778:L304F	L	-	1	0	LRIF1	111296119	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.914000	0.48797	1.426000	0.47256	0.591000	0.81541	CTT	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032932.2		-	ENST00000369763.4	Missense_Mutation	SNP	1 : 111494596 - 111494596 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	510	174
LRP1	4035	broad.mit.edu	37	12	57573330	57573330	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:57573330G>A	ENST00000243077.3	+	29	5423	c.4957G>A	c.(4957-4959)Gtc>Atc	p.V1653I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1653					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGAGACAGTCGTCTCTGCAGG	0.632		NA											G	2	9e-04	NA	NA	2184	0.0035	1	,	,	NA	3e-04	NA	NA	NA	9e-04	0.9768	EXOME	NA	NA	8e-04	SNP								NA				0													80	59	66			NA	NA	12		NA											NA				57573330		2203	4300	6503	SO:0001583	missense			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384	4035	4035		CD molecules, Low density lipoprotein receptors	6692	protein-coding gene	gene with protein product		107770	alpha-2-macroglobulin receptor	APR, A2MR	NA	2548950	Standard	NM_002332	NM_002332	NA	Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4957G>A	12.37:g.57573330G>A	ENSP00000243077:p.Val1653Ile	NA	Q2PP12|Q8IVG8	37	CCDS8932.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	12.57	1.977557	0.34848	.	.	ENSG00000123384	ENST00000243077	D	0.95554	-3.74	4.8	4.8	0.61643	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000014	D	0.93579	0.7950	N	0.10664	0.02	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.90619	0.4558	10	0.10111	T	0.7	.	16.7799	0.85560	0.0:0.0:1.0:0.0	.	1653	Q07954	LRP1_HUMAN	I	1653	ENSP00000243077:V1653I	ENSP00000243077:V1653I	V	+	1	0	LRP1	55859597	1.000000	0.71417	0.993000	0.49108	0.657000	0.38888	6.500000	0.73687	2.480000	0.83734	0.655000	0.94253	GTC	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412772.2		+	ENST00000243077.3	Missense_Mutation	SNP	12 : 57573330 - 57573330 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	357	82
LRPAP1	4043	broad.mit.edu	37	4	3516576	3516582	+	Frame_Shift_Del	DEL	AGCTTCT	AGCTTCT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	AGCTTCT	AGCTTCT	-	-	AGCTTCT	AGCTTCT	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:3516576_3516582delAGCTTCT	ENST00000500728.2	-	7	1054_1060	c.908_914delAGAAGCT	c.(907-915)gagaagctgfs	p.EKL303fs	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	303	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TGCGTGCCTCAGCTTCTCGTGCGCAAT	0.614		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant				CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956	4043	4043			6701	protein-coding gene	gene with protein product		104225	low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)	A2MRAP	NA	1712782	Standard		NM_002337	NA	Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.908_914delAGAAGCT	4.37:g.3516576_3516582delAGCTTCT	ENSP00000421922:p.Glu303fs	NA	D3DVR9|Q2M310|Q53HQ3|Q53HS6	37	CCDS3371.1																																																																																			LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206659.4		-	ENST00000500728.2	Frame_Shift_Del	DEL	4 : 3516576 - 3516582 - PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	797	232
MAML2	84441	broad.mit.edu	37	11	95724867	95724867	+	Silent	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:95724867G>A	ENST00000524717.1	-	3	3444	c.2160C>T	c.(2158-2160)ggC>ggT	p.G720G		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	720					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CTGTGTTCTGGCCTACCACAG	0.428		NA	T	MECT1, CRTC3	salivary gland mucoepidermoid									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0								G		0,3732		0,0,1866	84	80	81		2160	5.6	1	11		81	1,8181		0,1,4090	no	coding-synonymous	MAML2	NM_032427.1		0,1,5956	AA,AG,GG	NA	0.0122,0.0,0.0084		720/1157	95724867	1,11913	1866	4091	5957	SO:0001819	synonymous_variant			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384	84441	84441			16259	protein-coding gene	gene with protein product		607537	mastermind (Drosophila)-like 2		NA	12370315, 12386158	Standard		NM_032427	NA	Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2160C>T	11.37:g.95724867G>A		NA	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	37	CCDS44714.1																																																																																			MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395540.1		-	ENST00000524717.1	Silent	SNP	11 : 95724867 - 95724867 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	437	151
MAP4K2	5871	broad.mit.edu	37	11	64564293	64564293	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:64564293G>A	ENST00000294066.2	-	21	1571	c.1480C>T	c.(1480-1482)Cct>Tct	p.P494S	MAP4K2_ENST00000377350.3_Missense_Mutation_p.P486S	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	494	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CGAGTAACAGGGTGAATCCAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	40	39			NA	NA	11		NA											NA				64564293		2201	4297	6498	SO:0001583	missense			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067	5871	5871		Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases	6864	protein-coding gene	gene with protein product		603166		RAB8IP	NA	7515885	Standard	NM_004579	NM_004579	NA	Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.1480C>T	11.37:g.64564293G>A	ENSP00000294066:p.Pro494Ser	NA		37	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346951	0.82022	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.05996	3.36;3.36	4.51	4.51	0.55191	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.21062	0.0507	M	0.64997	1.995	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.00223	-1.1903	10	0.59425	D	0.04	.	13.1403	0.59430	0.0:0.0:1.0:0.0	.	486;494	Q86VU3;Q12851	.;M4K2_HUMAN	S	494;486	ENSP00000294066:P494S;ENSP00000366567:P486S	ENSP00000294066:P494S	P	-	1	0	MAP4K2	64320869	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.359000	0.90093	2.247000	0.74100	0.558000	0.71614	CCT	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000105239.1		-	ENST00000294066.2	Missense_Mutation	SNP	11 : 64564293 - 64564293 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	404	129
MYH13	8735	broad.mit.edu	37	17	10212619	10212619	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:10212619G>A	ENST00000418404.3	-	34	5264	c.5101C>T	c.(5101-5103)Cgg>Tgg	p.R1701W	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R1701W			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1701					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGCGGGTCCGCTCCGTCTGT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	29	29			NA	NA	17		NA											NA				10212619		2128	4252	6380	SO:0001583	missense			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788	8735	8735		Myosins / Myosin superfamily : Class II	7571	protein-coding gene	gene with protein product	extraocular muscle myosin heavy chain, extraocular myosin heavy chain	603487	myosin, heavy polypeptide 13, skeletal muscle		NA	9806854	Standard	NM_003802	NM_003802	NA	Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5101C>T	17.37:g.10212619G>A	ENSP00000404570:p.Arg1701Trp	NA	O95252	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504479	0.64410	.	.	ENSG00000006788	ENST00000252172	D	0.85013	-1.93	4.45	-3.48	0.04739	Myosin tail (1);	.	.	.	.	D	0.94958	0.8369	H	0.98525	4.255	0.31829	N	0.624973	D	0.89917	1.0	D	0.91635	0.999	D	0.94056	0.7322	9	0.87932	D	0	.	16.6484	0.85182	0.0:0.0:0.3441:0.6559	.	1701	Q9UKX3	MYH13_HUMAN	W	1701	ENSP00000252172:R1701W	ENSP00000252172:R1701W	R	-	1	2	MYH13	10153344	0.078000	0.21339	0.985000	0.45067	0.779000	0.44077	-0.555000	0.05999	-0.297000	0.08934	-0.182000	0.12963	CGG	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442255.1		-	ENST00000418404.3	Missense_Mutation	SNP	17 : 10212619 - 10212619 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	259	88
MYO9B	4650	broad.mit.edu	37	19	17213029	17213029	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:17213029C>A	ENST00000595618.1	+	2	654	c.502C>A	c.(502-504)Cac>Aac	p.H168N	MYO9B_ENST00000594824.1_Missense_Mutation_p.H168N|MYO9B_ENST00000593411.1_3'UTR|MYO9B_ENST00000397274.2_Missense_Mutation_p.H168N	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	168	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GAACCTCAAGCACCGCTTCCT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	134	133			NA	NA	19		NA											NA				17213029		2063	4212	6275	SO:0001583	missense				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331	4650	4650		Myosins / Myosin superfamily : Class IX	7609	protein-coding gene	gene with protein product		602129		CELIAC4	NA	9226381	Standard		NM_004145	NA	Approved		uc010eak.3	Q13459		ENST00000595618.1:c.502C>A	19.37:g.17213029C>A	ENSP00000471457:p.His168Asn	NA	O75314|Q9NUJ2|Q9UHN0	37	CCDS46010.1	.	.	.	.	.	.	.	.	.	.	C	1.069	-0.670350	0.03403	.	.	ENSG00000099331	ENST00000397274	D	0.86956	-2.19	5.62	4.59	0.56863	Myosin head, motor domain (2);	0.714976	0.12174	N	0.492731	T	0.71634	0.3363	N	0.05467	-0.045	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.001;0.001;0.004	T	0.57183	-0.7855	10	0.14656	T	0.56	.	7.2307	0.26040	0.0:0.7392:0.0:0.2608	.	168;168;174	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	N	168	ENSP00000380444:H168N	ENSP00000380444:H168N	H	+	1	0	MYO9B	17074029	0.006000	0.16342	0.261000	0.24466	0.994000	0.84299	0.110000	0.15437	1.376000	0.46267	0.655000	0.94253	CAC	MYO9B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463235.1		+	ENST00000595618.1	Missense_Mutation	SNP	19 : 17213029 - 17213029 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	751	378
N4BP2L2	10443	broad.mit.edu	37	13	33110585	33110585	+	Missense_Mutation	SNP	T	T	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr13:33110585T>C	ENST00000267068.3	-	2	744	c.580A>G	c.(580-582)Aaa>Gaa	p.K194E	N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.K194E	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	194										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TCAGATTCTTTACAACTGTTC	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	61	60			NA	NA	13		NA											NA				33110585		2203	4299	6502	SO:0001583	missense			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754	10443	10443			26916	protein-coding gene	gene with protein product	phosphonoformate immuno-associated protein 5	615788			NA	8812419	Standard	NM_014887	NM_014887	NA	Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.580A>G	13.37:g.33110585T>C	ENSP00000267068:p.Lys194Glu	NA	A3KME8	37	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.342658	0.24339	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.44083	0.93;0.93;0.93	5.58	2.06	0.26882	.	.	.	.	.	T	0.36358	0.0964	L	0.53249	1.67	0.09310	N	0.999997	B;B	0.21071	0.051;0.024	B;B	0.16722	0.016;0.007	T	0.34675	-0.9819	9	0.72032	D	0.01	-18.8345	7.1289	0.25488	0.0:0.1463:0.2835:0.5702	.	194;194	D6R968;Q92802	.;N42L2_HUMAN	E	194	ENSP00000394239:K194E;ENSP00000423362:K194E;ENSP00000267068:K194E	ENSP00000267068:K194E	K	-	1	0	N4BP2L2	32008585	0.013000	0.17824	0.763000	0.31416	0.398000	0.30690	0.010000	0.13242	0.405000	0.25532	0.460000	0.39030	AAA	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044421.1		-	ENST00000267068.3	Missense_Mutation	SNP	13 : 33110585 - 33110585 C PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	428	158
PANK4	55229	broad.mit.edu	37	1	2444410	2444410	+	Silent	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:2444410C>T	ENST00000378466.3	-	13	1656	c.1644G>A	c.(1642-1644)ctG>ctA	p.L548L	PANK4_ENST00000435556.3_Silent_p.L509L	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	548					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCTCCCAGCCCAGCGCGTCCA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	86	83			NA	NA	1		NA											NA				2444410		2203	4297	6500	SO:0001819	synonymous_variant			AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881	55229	55229			19366	protein-coding gene	gene with protein product		606162			NA	11479594	Standard		XR_241034	NA	Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.1644G>A	1.37:g.2444410C>T		NA	B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	37	CCDS42.1																																																																																			PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000002082.1		-	ENST00000378466.3	Silent	SNP	1 : 2444410 - 2444410 T PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	1130	389
PLCD4	84812	broad.mit.edu	37	2	219500518	219500518	+	Splice_Site	SNP	G	G	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:219500518G>C	ENST00000432688.1	+	15	2234		c.e15-1		PLCD4_ENST00000417849.1_Splice_Site|PLCD4_ENST00000450993.2_Splice_Site			Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	NA					intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCTGACTACAGGTGATCAGCG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	42	41			NA	NA	2		NA											NA				219500518		1940	4137	6077	SO:0001630	splice_region_variant			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	84812	84812	3.1.4.11	EF-hand domain containing	9062	protein-coding gene	gene with protein product		605939			NA	10702683, 9056492	Standard		NM_032726	NA	Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000432688.1:c.1993-1G>C	2.37:g.219500518G>C		NA	Q53FS8	37		.	.	.	.	.	.	.	.	.	.	G	19.16	3.774719	0.70107	.	.	ENSG00000115556	ENST00000450993;ENST00000417849;ENST00000432688	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1177	0.89561	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLCD4	219208762	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.601000	0.98297	2.676000	0.91093	0.655000	0.94253	.	PLCD4-007	NOVEL	non_canonical_conserved|not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000336882.1	Intron	+	ENST00000432688.1	Splice_Site	SNP	2 : 219500518 - 219500518 C PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	110	51
POM121L12	285877	broad.mit.edu	37	7	53103972	53103972	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:53103972G>A	ENST00000408890.4	+	1	624	c.608G>A	c.(607-609)aGc>aAc	p.S203N		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	203										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GTCTCAGACAGCAAGGGTGGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	59	56			NA	NA	7		NA											NA				53103972		1986	4140	6126	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.608G>A	7.37:g.53103972G>A	ENSP00000386133:p.Ser203Asn	NA	Q8NDI9	37	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253636	0.22965	.	.	ENSG00000221900	ENST00000408890	T	0.11604	2.76	1.68	0.545	0.17190	.	.	.	.	.	T	0.04770	0.0129	N	0.20986	0.625	0.09310	N	1	P	0.50710	0.938	B	0.37451	0.25	T	0.31475	-0.9942	9	0.11182	T	0.66	.	4.9354	0.13937	0.0:0.0:0.5027:0.4973	.	203	Q8N7R1	P1L12_HUMAN	N	203	ENSP00000386133:S203N	ENSP00000386133:S203N	S	+	2	0	POM121L12	53071466	0.001000	0.12720	0.003000	0.11579	0.080000	0.17528	0.642000	0.24735	0.131000	0.18576	0.561000	0.74099	AGC	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342656.1		+	ENST00000408890.4	Missense_Mutation	SNP	7 : 53103972 - 53103972 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	754	263
PRTFDC1	56952	broad.mit.edu	37	10	25138811	25138811	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr10:25138811C>A	ENST00000320152.6	-	9	668	c.640G>T	c.(640-642)Gtc>Ttc	p.V214F	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.R188L	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	214					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						TCATTGATGACGCATATGTGC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													204	174	184			NA	NA	10		NA											NA				25138811		2203	4300	6503	SO:0001583	missense			AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256	56952	56952			23333	protein-coding gene	gene with protein product		610751			NA		Standard	NM_020200	XM_005252537	NA	Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.640G>T	10.37:g.25138811C>A	ENSP00000318602:p.Val214Phe	NA	B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	37	CCDS7145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.124299|4.124299	0.77436|0.77436	.|.	.|.	ENSG00000099256|ENSG00000099256	ENST00000358336;ENST00000376378|ENST00000320152	D|D	0.99841|0.99232	-7.09|-5.6	5.55|5.55	2.64|2.64	0.31445|0.31445	.|.	.|0.058217	.|0.64402	.|D	.|0.000002	D|D	0.99524|0.99524	0.9830|0.9830	H|H	0.97983|0.97983	4.12|4.12	0.80722|0.80722	D|D	1|1	B|D	0.13145|0.65815	0.007|0.995	B|D	0.17098|0.67548	0.017|0.952	D|D	0.98786|0.98786	1.0734|1.0734	9|10	0.54805|0.87932	T|D	0.06|0	.|.	7.9935|7.9935	0.30254|0.30254	0.1307:0.7315:0.0:0.1378|0.1307:0.7315:0.0:0.1378	.|.	188|214	Q9NRG1-2|Q9NRG1	.|PRDC1_HUMAN	L|F	188|214	ENSP00000365558:R188L|ENSP00000318602:V214F	ENSP00000351096:R188L|ENSP00000318602:V214F	R|V	-|-	2|1	0|0	PRTFDC1|PRTFDC1	25178817|25178817	0.897000|0.897000	0.30589|0.30589	0.858000|0.858000	0.33744|0.33744	0.984000|0.984000	0.73092|0.73092	1.561000|1.561000	0.36342|0.36342	0.270000|0.270000	0.21984|0.21984	0.563000|0.563000	0.77884|0.77884	CGT|GTC	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047243.2		-	ENST00000320152.6	Missense_Mutation	SNP	10 : 25138811 - 25138811 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	487	234
PXDN	7837	broad.mit.edu	37	2	1670184	1670184	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:1670184C>T	ENST00000252804.4	-	10	1143	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	365	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGGCCTGTGGCGCTGCACTCC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	29	28			NA	NA	2		NA											NA				1670184		2026	4173	6199	SO:0001583	missense			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508	7837	7837		Immunoglobulin superfamily / I-set domain containing	14966	protein-coding gene	gene with protein product		605158			NA	10441517, 9039502	Standard	XM_056455	XM_005264707	NA	Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1093G>A	2.37:g.1670184C>T	ENSP00000252804:p.Ala365Thr	NA	A8QM65|D6W4Y0|Q4KMG2	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587546	0.66105	.	.	ENSG00000130508	ENST00000252804	T	0.68331	-0.32	5.09	4.21	0.49690	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.176187	0.49916	N	0.000139	T	0.73976	0.3656	M	0.67625	2.065	0.46542	D	0.999097	D;B	0.64830	0.994;0.127	P;B	0.59761	0.863;0.178	T	0.75243	-0.3386	10	0.87932	D	0	-31.0361	7.7167	0.28708	0.1612:0.756:0.0:0.0828	.	365;365	Q92626-2;Q92626	.;PXDN_HUMAN	T	365	ENSP00000252804:A365T	ENSP00000252804:A365T	A	-	1	0	PXDN	1649191	1.000000	0.71417	0.987000	0.45799	0.734000	0.41952	4.819000	0.62664	1.140000	0.42260	0.655000	0.94253	GCC	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322505.1		-	ENST00000252804.4	Missense_Mutation	SNP	2 : 1670184 - 1670184 T PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	136	19
SOHLH2	54937	broad.mit.edu	37	13	36744857	36744857	+	Silent	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr13:36744857C>T	ENST00000379881.3	-	10	1156	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.A433A|SOHLH2_ENST00000554962.1_Silent_p.A433A	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2	NA										autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TCAGAGACAGCGCTGCACTGG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,4406		0,0,2203	146	141	143		1299,1068	-8.1	0	13		143	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SOHLH2,CCDC169-SOHLH2	NM_001198910.1,NM_017826.2	,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,	433/503,356/426	36744857	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669	54937	54937		Basic helix-loop-helix proteins	26026	protein-coding gene	gene with protein product	spermatogenesis associated 28				NA	12477932	Standard	NM_017826	NM_017826	NA	Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.1068G>A	13.37:g.36744857C>T		NA		37	CCDS9355.1																																																																																			SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044477.2		-	ENST00000379881.3	Silent	SNP	13 : 36744857 - 36744857 T PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	923	349
TGFBR1	7046	broad.mit.edu	37	9	101911535	101911535	+	Missense_Mutation	SNP	G	G	A	rs113605875		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr9:101911535G>A	ENST00000374994.4	+	9	1577	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	TGFBR1_ENST00000550253.1_Missense_Mutation_p.R418Q|TGFBR1_ENST00000374990.2_Missense_Mutation_p.R410Q|TGFBR1_ENST00000552516.1_Missense_Mutation_p.R491Q	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	487	Protein kinase.		R -> P (in LDS1A and LDS2A).|R -> Q (in LDS2A and AAT5).|R -> W (in LDS2A).		activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ACAGCATTGCGGATTAAGAAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM050757|CM063198	TGFBR1	M	rs113605875						87	79	82			NA	NA	9		NA											NA				101911535		2203	4300	6503	SO:0001583	missense				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799	7046	7046			11772	protein-coding gene	gene with protein product	activin A receptor type II-like kinase, 53kDa	190181	transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD), multiple self-healing squamous epithelioma	MSSE, ESS1	NA	1319842, 8530052, 21358634	Standard		NM_001130916	NA	Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.1460G>A	9.37:g.101911535G>A	ENSP00000364133:p.Arg487Gln	NA	Q6IR47|Q706C0|Q706C1	37	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907570	0.92107	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.66	5.66	0.87406	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95201	0.8444	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.916;0.999	D	0.95213	0.8327	10	0.87932	D	0	.	18.8853	0.92375	0.0:0.0:1.0:0.0	.	410;487	P36897-3;P36897	.;TGFR1_HUMAN	Q	487;449;410;491;418	ENSP00000364133:R487Q;ENSP00000364129:R410Q;ENSP00000447297:R491Q;ENSP00000450052:R418Q	ENSP00000364129:R410Q	R	+	2	0	TGFBR1	100951356	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.827000	0.97445	0.655000	0.94253	CGG	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053390.3		+	ENST00000374994.4	Missense_Mutation	SNP	9 : 101911535 - 101911535 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	209	9
TOPBP1	11073	broad.mit.edu	37	3	133327737	133327737	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:133327737G>A	ENST00000260810.5	-	26	4374	c.4243C>T	c.(4243-4245)Ctt>Ttt	p.L1415F		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1415	BRCT 8.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CCTGACTGAAGAAGGCGTTTG	0.368		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(21;193 658 4424 15423 17362)							NA				0													71	69	69			NA	NA	3		NA											NA				133327737		1850	4089	5939	SO:0001583	missense			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781	11073	11073			17008	protein-coding gene	gene with protein product		607760			NA	9461304, 9039502	Standard	NM_007027	NM_007027	NA	Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4243C>T	3.37:g.133327737G>A	ENSP00000260810:p.Leu1415Phe	NA	B7Z7W8|Q7LGC1|Q9UEB9	37	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819176	0.90873	.	.	ENSG00000163781	ENST00000260810	T	0.28069	1.63	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.60741	0.2292	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62358	-0.6871	10	0.52906	T	0.07	.	19.5504	0.95315	0.0:0.0:1.0:0.0	.	1415	Q92547	TOPB1_HUMAN	F	1415	ENSP00000260810:L1415F	ENSP00000260810:L1415F	L	-	1	0	TOPBP1	134810427	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.006000	0.88564	2.612000	0.88384	0.655000	0.94253	CTT	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357254.1		-	ENST00000260810.5	Missense_Mutation	SNP	3 : 133327737 - 133327737 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	315	99
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:7577568C>T	ENST00000420246.2	-	7	845	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000269305.4_Missense_Mutation_p.C238Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)		GGAACTGTTACACATGTAGTT	0.572		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	158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(1)	GRCh37	CM034930	TP53	M							132	103	113			NA	NA	17		NA											NA				7577568		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.713G>A	17.37:g.7577568C>T	ENSP00000391127:p.Cys238Tyr	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	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327056	0.81690	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	M	0.92970	3.365	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;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238Y;ENSP00000352610:C238Y;ENSP00000269305:C238Y;ENSP00000398846:C238Y;ENSP00000391127:C238Y;ENSP00000391478:C238Y;ENSP00000425104:C106Y;ENSP00000423862:C145Y	ENSP00000269305:C238Y	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577568 - 7577568 T PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	295	168
UGT1A4	54657	broad.mit.edu	37	2	234627639	234627639	+	Missense_Mutation	SNP	C	C	T	rs141408391		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:234627639C>T	ENST00000373409.3	+	1	216	c.173C>T	c.(172-174)gCg>gTg	p.A58V	UGT1A6_ENST00000480628.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron	NM_007120.2	NP_009051.1			UDP glucuronosyltransferase 1 family, polypeptide A4	NA										autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		GGCCACCAGGCGGTGGTCCTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(99;1011 1962 13201 26492)							NA				0								C	,VAL/ALA,,,,,,	2,4404	4.2+/-10.8	0,2,2201	49	49	49		,173,,,,,,	-3	0	2	dbSNP_134	49	0,8600		0,0,4300	no	intron,missense,intron,intron,intron,intron,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4	NM_001072.3,NM_007120.2,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_021027.2,NM_205862.1	,64,,,,,,	0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154	,,,,,,,	,58/535,,,,,,	234627639	2,13004	2203	4300	6503	SO:0001583	missense			M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474	54657	54657		UDP glucuronosyltransferases	12536	other	complex locus constituent		606429	UDP glycosyltransferase 1 family, polypeptide A4		NA	9295054, 1339448	Standard	NM_007120	NM_007120	NA	Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.173C>T	2.37:g.234627639C>T	ENSP00000362508:p.Ala58Val	NA		37	CCDS33405.1	.	.	.	.	.	.	.	.	.	.	C	1.852	-0.464818	0.04476	4.54E-4	0.0	ENSG00000244474	ENST00000373409	T	0.37235	1.21	4.16	-3.04	0.05412	.	.	.	.	.	T	0.06462	0.0166	N	0.00278	-1.715	0.09310	N	1	B;B	0.14438	0.01;0.001	B;B	0.12837	0.006;0.008	T	0.39272	-0.9622	9	0.02654	T	1	.	5.6729	0.17733	0.0:0.1803:0.3048:0.5149	.	58;58	B8K288;P22310	.;UD14_HUMAN	V	58	ENSP00000362508:A58V	ENSP00000362508:A58V	A	+	2	0	UGT1A4	234292378	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	0.753000	0.26376	-0.253000	0.09514	-0.424000	0.05967	GCG	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130984.1		+	ENST00000373409.3	Missense_Mutation	SNP	2 : 234627639 - 234627639 T PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	315	123
WDR31	114987	broad.mit.edu	37	9	116093321	116093321	+	Silent	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr9:116093321G>A	ENST00000374193.4	-	4	438	c.192C>T	c.(190-192)acC>acT	p.T64T	WDR31_ENST00000374195.3_Intron|WDR31_ENST00000341761.4_Silent_p.T63T|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	64										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						CGACAGAGACGGTATCCATGT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	98	97			NA	NA	9		NA											NA				116093321		2203	4300	6503	SO:0001819	synonymous_variant			BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225	114987	114987		WD repeat domain containing	21421	protein-coding gene	gene with protein product	similar to spermatid WD-repeat protein				NA		Standard	NM_145241	NM_145241	NA	Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.192C>T	9.37:g.116093321G>A		NA	Q5W0T9|Q96EG8	37	CCDS35110.1																																																																																			WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053734.2		-	ENST00000374193.4	Silent	SNP	9 : 116093321 - 116093321 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	311	5
XKR7	343702	broad.mit.edu	37	20	30584387	30584387	+	Silent	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr20:30584387C>T	ENST00000562532.2	+	3	1041	c.867C>T	c.(865-867)gaC>gaT	p.D289D		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	NA						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACTCGCGGGACGACAAGCGGC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	32	31			NA	NA	20		NA											NA				30584387		2203	4300	6503	SO:0001819	synonymous_variant			AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903	343702	343702			23062	protein-coding gene	gene with protein product			X Kell blood group precursor-related family, member 7, chromosome 20 open reading frame 159	C20orf159	NA		Standard	NM_001011718	NM_001011718	NA	Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.867C>T	20.37:g.30584387C>T		NA	Q9NUG5	37	CCDS33459.1																																																																																			XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078597.3		+	ENST00000562532.2	Silent	SNP	20 : 30584387 - 30584387 T PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	317	91
ZFYVE28	57732	broad.mit.edu	37	4	2306490	2306490	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:2306490G>A	ENST00000290974.2	-	8	1916	c.1577C>T	c.(1576-1578)tCc>tTc	p.S526F	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S496F|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S456F	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	526					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						AGAGTCCAGGGAAGTGGGCGA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	42	41			NA	NA	4		NA											NA				2306490		2200	4282	6482	SO:0001583	missense			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733	57732	57732		Zinc fingers, FYVE domain containing	29334	protein-coding gene	gene with protein product		614176			NA	10997877	Standard	XM_035371	NM_020972	NA	Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1577C>T	4.37:g.2306490G>A	ENSP00000290974:p.Ser526Phe	NA	B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19	37	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420143	0.42918	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.60424	0.21;0.19;0.21	4.21	3.37	0.38596	.	0.815729	0.11518	N	0.556019	T	0.51601	0.1684	L	0.50333	1.59	0.09310	N	1	B;P	0.45902	0.004;0.868	B;B	0.43052	0.007;0.406	T	0.46359	-0.9197	10	0.72032	D	0.01	.	6.0708	0.19887	0.1057:0.2096:0.6846:0.0	.	496;526	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	F	526;496;456	ENSP00000290974:S526F;ENSP00000425706:S496F;ENSP00000426299:S456F	ENSP00000290974:S526F	S	-	2	0	ZFYVE28	2276288	0.032000	0.19561	0.001000	0.08648	0.011000	0.07611	2.501000	0.45389	0.997000	0.38969	0.306000	0.20318	TCC	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360078.1		-	ENST00000290974.2	Missense_Mutation	SNP	4 : 2306490 - 2306490 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	651	195
ZNF211	10520	broad.mit.edu	37	19	58153483	58153484	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:58153483_58153484insA	ENST00000299871.5	+	5	1955_1956	c.1824_1825insA	c.(1825-1827)aaafs	p.K609fs	ZNF211_ENST00000347302.3_Frame_Shift_Ins_p.K544fs|ZNF211_ENST00000240731.4_Frame_Shift_Ins_p.K557fs|ZNF211_ENST00000420680.1_Frame_Shift_Ins_p.K548fs|ZNF211_ENST00000391703.3_Frame_Shift_Ins_p.K483fs|ZNF211_ENST00000254182.7_Frame_Shift_Ins_p.K535fs|ZNF211_ENST00000544273.1_Frame_Shift_Ins_p.K556fs|ZNF211_ENST00000541801.1_Frame_Shift_Ins_p.K535fs	NM_001265597.1	NP_001252526.1	Q13398	ZN211_HUMAN	zinc finger protein 211	544						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K557E(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTCAATGTGGGAAATCCTTTGG	0.431		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417	NA	10520		Zinc fingers, C2H2-type, -	13003	protein-coding gene	gene with protein product		601856			NA	7633419, 9096115	Standard		NM_006385	NA	Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000299871.5:c.1827dupA	19.37:g.58153486_58153486dupA	ENSP00000299871:p.Lys609fs	NA	B4DH10|B4DLC9|B4E3C9|B9ZVS7|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	37	CCDS58686.1																																																																																			ZNF211-005	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397506.1		+	ENST00000299871.5	Frame_Shift_Ins	INS	19 : 58153483 - 58153484 A PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	1447	735
ZNF585A	199704	broad.mit.edu	37	19	37644488	37644488	+	Missense_Mutation	SNP	T	T	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:37644488T>C	ENST00000356958.4	-	5	571	c.313A>G	c.(313-315)Aat>Gat	p.N105D	ZNF585A_ENST00000355533.2_Missense_Mutation_p.N50D|ZNF585A_ENST00000392157.2_Missense_Mutation_p.N50D|ZNF585A_ENST00000292841.5_Missense_Mutation_p.N50D|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTACATTGATTATGGTCCCAT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	124	122			NA	NA	19		NA											NA				37644488		2202	4300	6502	SO:0001583	missense			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967	199704	199704		Zinc fingers, C2H2-type, -	26305	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152655	NM_199126	NA	Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.313A>G	19.37:g.37644488T>C	ENSP00000349440:p.Asn105Asp	NA	Q8TE95|Q96MV3	37		.	.	.	.	.	.	.	.	.	.	T	13.10	2.136367	0.37728	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.27402	3.3;3.34;3.34;1.67	3.76	2.71	0.32032	.	1.711460	0.03779	U	0.261004	T	0.24470	0.0593	L	0.31804	0.96	0.09310	N	1	B	0.20164	0.042	B	0.24006	0.05	T	0.22312	-1.0220	10	0.27082	T	0.32	.	5.4867	0.16753	0.0:0.1002:0.1734:0.7264	.	105	Q6P3V2	Z585A_HUMAN	D	105;50;50;50	ENSP00000349440:N105D;ENSP00000292841:N50D;ENSP00000375998:N50D;ENSP00000347724:N50D	ENSP00000292841:N50D	N	-	1	0	ZNF585A	42336328	0.000000	0.05858	0.179000	0.23059	0.102000	0.19082	-0.109000	0.10840	0.567000	0.29293	0.533000	0.62120	AAT	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000457980.2		-	ENST00000356958.4	Missense_Mutation	SNP	19 : 37644488 - 37644488 C PAAD-TCGA-H6-8124-Tumor-SM-3MVD7	1418	710
