Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	X1000Genome_AA	X1000Genome_AC	X1000Genome_AF	X1000Genome_AFR_AF	X1000Genome_AMR_AF	X1000Genome_AN	X1000Genome_ASN_AF	X1000Genome_AVGPOST	X1000Genome_CIEND	X1000Genome_CIPOS	X1000Genome_END	X1000Genome_ERATE	X1000Genome_EUR_AF	X1000Genome_HOMLEN	X1000Genome_HOMSEQ	X1000Genome_LDAF	X1000Genome_RSQ	X1000Genome_SNPSOURCE	X1000Genome_SVLEN	X1000Genome_SVTYPE	X1000Genome_THETA	X1000Genome_VT	ACHILLES_Lineage_Results_Top_Genes	CGC_Cancer.Germline.Mut	CGC_Cancer.Molecular.Genetics	CGC_Cancer.Somatic.Mut	CGC_Cancer.Syndrome	CGC_Chr	CGC_Chr.Band	CGC_GeneID	CGC_Name	CGC_Other.Germline.Mut	CGC_Tissue.Type	COSMIC_n_overlapping_mutations	COSMIC_overlapping_mutation_descriptions	COSMIC_overlapping_primary_sites	ClinVar_ASSEMBLY	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_rs	ESP_AA	ESP_AAC	ESP_AA_AC	ESP_AA_AGE	ESP_AA_GTC	ESP_AvgAAsampleReadDepth	ESP_AvgEAsampleReadDepth	ESP_AvgSampleReadDepth	ESP_CA	ESP_CDP	ESP_CG	ESP_CP	ESP_Chromosome	ESP_DBSNP	ESP_DP	ESP_EA_AC	ESP_EA_AGE	ESP_EA_GTC	ESP_EXOME_CHIP	ESP_FG	ESP_GL	ESP_GM	ESP_GS	ESP_GTC	ESP_GTS	ESP_GWAS_PUBMED	ESP_MAF	ESP_PH	ESP_PP	ESP_Position	ESP_TAC	ESP_TotalAAsamplesCovered	ESP_TotalEAsamplesCovered	ESP_TotalSamplesCovered	Ensembl_so_accession	Ensembl_so_term	Familial_Cancer_Genes_Reference	Familial_Cancer_Genes_Synonym	HGNC_Accession.Numbers	HGNC_CCDS.IDs	HGNC_Chromosome	HGNC_Date.Modified	HGNC_Date.Name.Changed	HGNC_Date.Symbol.Changed	HGNC_Ensembl.Gene.ID	HGNC_Ensembl.ID.supplied.by.Ensembl.	HGNC_Entrez.Gene.ID	HGNC_Entrez.Gene.ID.supplied.by.NCBI.	HGNC_Enzyme.IDs	HGNC_Gene.family.description	HGNC_HGNC.ID	HGNC_Locus.Group	HGNC_Locus.Type	HGNC_Name.Synonyms	HGNC_OMIM.ID.supplied.by.NCBI.	HGNC_Previous.Names	HGNC_Previous.Symbols	HGNC_Primary.IDs	HGNC_Pubmed.IDs	HGNC_Record.Type	HGNC_RefSeq.IDs	HGNC_RefSeq.supplied.by.NCBI.	HGNC_Secondary.IDs	HGNC_Status	HGNC_Synonyms	HGNC_UCSC.ID.supplied.by.UCSC.	HGNC_UniProt.ID.supplied.by.UniProt.	HGNC_VEGA.IDs	HGVS_coding_DNA_change	HGVS_genomic_change	HGVS_protein_change	ORegAnno_bin	UniProt_alt_uniprot_accessions	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP.._NR	dbNSFP_GERP.._RS	dbNSFP_GERP.._RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_fold.degenerate	dbNSFP_genename	dbNSFP_hg18_pos.1.coor.	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_id	gene_type	havana_transcript	secondary_variant_classification	strand	transcript_id	variant_classification	variant_type	key	t_ref_count	t_alt_count
ABCC9	10060	broad.mit.edu	37	12	21997786	21997786	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:21997786A>T	ENST00000261200.4	-	25	3159	c.3160T>A	c.(3160-3162)Tcc>Acc	p.S1054T	ABCC9_ENST00000345162.2_Missense_Mutation_p.S1018T|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.S1054T	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1054	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACAGTGAGGGATGTAACAAGG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	139	140			NA	NA	12		NA											NA				21997786		2203	4300	6503	SO:0001583	missense			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431	10060	10060		ATP binding cassette transporters / subfamily C	60	protein-coding gene	gene with protein product	sulfonylurea receptor 2	601439			NA	9457174, 15034580	Standard	NM_005691	NM_020297	NA	Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261200.4:c.3160T>A	12.37:g.21997786A>T	ENSP00000261200:p.Ser1054Thr	NA	O60707	37	CCDS8693.1	.	.	.	.	.	.	.	.	.	.	A	19.31	3.803647	0.70682	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	5.27	5.27	0.74061	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.278617	0.37393	N	0.002119	D	0.87877	0.6288	L	0.35723	1.085	0.58432	D	0.999994	B;B	0.32382	0.368;0.291	B;B	0.39152	0.292;0.091	D	0.85757	0.1347	10	0.30854	T	0.27	-13.5709	15.2233	0.73330	1.0:0.0:0.0:0.0	.	1054;1054	O60706;O60706-2	ABCC9_HUMAN;.	T	1054;681;1054;1018	ENSP00000261200:S1054T;ENSP00000440521:S681T;ENSP00000261201:S1054T;ENSP00000261202:S1018T	ENSP00000261200:S1054T	S	-	1	0	ABCC9	21889053	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.092000	0.94157	1.985000	0.57927	0.528000	0.53228	TCC	ABCC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402228.1		-	ENST00000261200.4	Missense_Mutation	SNP	12 : 21997786 - 21997786 T PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	465	47
ACAN	176	broad.mit.edu	37	15	89386782	89386782	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:89386782C>T	ENST00000559004.1	+	6	1012	c.954C>T	c.(952-954)tgC>tgT	p.C318C	ACAN_ENST00000561243.1_Silent_p.C318C|ACAN_ENST00000352105.7_Silent_p.C318C|ACAN_ENST00000558207.1_Silent_p.C318C|ACAN_ENST00000439576.2_Silent_p.C318C			E7EX88	E7EX88_HUMAN	aggrecan	318					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCCCAACTGCGGTGGCAACC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	33	31			NA	NA	15		NA											NA				89386782		2066	4189	6255	SO:0001819	synonymous_variant			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766	176	176		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans	319	protein-coding gene	gene with protein product	aggrecan proteoglycan	155760	chondroitin sulfate proteoglycan 1, aggrecan 1	MSK16, CSPG1, AGC1	NA	1985970	Standard	NM_001135	NM_013227	NA	Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000559004.1:c.954C>T	15.37:g.89386782C>T		NA		37																																																																																				ACAN-008	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000418839.1		+	ENST00000559004.1	Silent	SNP	15 : 89386782 - 89386782 T PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	189	11
BTNL9	153579	broad.mit.edu	37	5	180475168	180475168	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:180475168C>T	ENST00000515271.1	+	2	409	c.144C>T	c.(142-144)gtC>gtT	p.V48V	BTNL9_ENST00000376841.2_Silent_p.V117V|BTNL9_ENST00000327705.9_Silent_p.V117V|BTNL9_ENST00000376842.3_Silent_p.V117V			Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	117						integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCGTGGTCCTGCAGCTTC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	60	65			NA	NA	5		NA											NA				180475168		2203	4300	6503	SO:0001819	synonymous_variant			AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810	153579	153579		Immunoglobulin superfamily / V-set domain containing, Butyrophilins	24176	protein-coding gene	gene with protein product					NA		Standard	NM_152547	NM_152547	NA	Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000515271.1:c.144C>T	5.37:g.180475168C>T		NA	A6NL42|Q6P660|Q96DM5	37																																																																																				BTNL9-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367224.1		+	ENST00000515271.1	Silent	SNP	5 : 180475168 - 180475168 T PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	240	14
CAPRIN1	4076	broad.mit.edu	37	11	34107957	34107957	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:34107957C>G	ENST00000341394.4	+	11	1417	c.1228C>G	c.(1228-1230)Cca>Gca	p.P410A	CAPRIN1_ENST00000530820.1_Missense_Mutation_p.P410A|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.P410A|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.P410A|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.P329A	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	410					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GGTTTGCCCTCCAGGTTAGTA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	72	73			NA	NA	11		NA											NA				34107957		2202	4298	6500	SO:0001583	missense			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387	4076	4076			6743	protein-coding gene	gene with protein product	cytoplasmic activation/proliferation-associated protein-1	601178	membrane component, chromosome 11, surface marker 1, GPI-anchored membrane protein 1	M11S1, GPIAP1	NA	7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898	NM_005898	NA	Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.1228C>G	11.37:g.34107957C>G	ENSP00000340329:p.Pro410Ala	NA	A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	37	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278865	0.59758	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	6.03	6.03	0.97812	.	0.098488	0.64402	D	0.000001	T	0.31513	0.0799	L	0.35414	1.06	0.80722	D	1	B;B	0.25850	0.136;0.023	B;B	0.21151	0.033;0.019	T	0.04621	-1.0938	10	0.21540	T	0.41	-6.388	20.5753	0.99366	0.0:1.0:0.0:0.0	.	410;410	Q14444;Q14444-2	CAPR1_HUMAN;.	A	410;410;410;410;329	ENSP00000340329:P410A;ENSP00000374296:P410A;ENSP00000434150:P410A;ENSP00000434204:P410A;ENSP00000431581:P329A	ENSP00000340329:P410A	P	+	1	0	CAPRIN1	34064533	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.642000	0.61383	2.868000	0.98415	0.557000	0.71058	CCA	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388680.2		+	ENST00000341394.4	Missense_Mutation	SNP	11 : 34107957 - 34107957 G PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	222	21
CFB	629	broad.mit.edu	37	6	31918989	31918989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:31918989C>T	ENST00000456570.1	+	27	3485	c.3430C>T	c.(3430-3432)Cgg>Tgg	p.R1144W	CFB_ENST00000556679.1_Missense_Mutation_p.R1144W|CFB_ENST00000477310.1_Missense_Mutation_p.R993W|CFB_ENST00000425368.2_Missense_Mutation_p.R642W			P00751	CFAB_HUMAN	complement factor B	642					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AAAGCTGACTCGGAAGGAGGT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	95	94			NA	NA	6		NA											NA				31918989		1511	2709	4220	SO:0001583	missense			L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	629	629	3.4.21.47	Complement system	1037	protein-coding gene	gene with protein product		138470	B-factor, properdin	BFD, BF	NA		Standard	NM_001710	NM_001710	NA	Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000456570.1:c.3430C>T	6.37:g.31918989C>T	ENSP00000410815:p.Arg1144Trp	NA	B0QZQ6|O15006|Q29944|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	37		.	.	.	.	.	.	.	.	.	.	C	20.9	4.068731	0.76301	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	5.41	5.41	0.78517	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.166558	0.28865	N	0.013890	D	0.90126	0.6915	L	0.48260	1.515	0.37642	D	0.922095	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	D	0.91549	0.5255	10	0.87932	D	0	-23.6051	11.7828	0.52023	0.1755:0.8245:0.0:0.0	.	1144;642	B4E1Z4;P00751	.;CFAB_HUMAN	W	1144;642;1144;993	ENSP00000451848:R1144W;ENSP00000416561:R642W;ENSP00000410815:R1144W;ENSP00000418996:R993W	ENSP00000416561:R642W	R	+	1	2	CFB;XXbac-BPG116M5.17	32026968	0.986000	0.35501	0.957000	0.39632	0.975000	0.68041	2.981000	0.49329	2.535000	0.85469	0.591000	0.81541	CGG	CFB-001	NOVEL	basic|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356427.1		+	ENST00000456570.1	Missense_Mutation	SNP	6 : 31918989 - 31918989 T PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	425	42
DCLK2	166614	broad.mit.edu	37	4	151168835	151168835	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:151168835T>C	ENST00000296550.7	+	13	2613	c.1859T>C	c.(1858-1860)aTc>aCc	p.I620T	DCLK2_ENST00000506325.1_Missense_Mutation_p.I619T|DCLK2_ENST00000302176.8_Missense_Mutation_p.I637T	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	620	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGGATAACATCACGGACTCT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(195;186 2215 13375 16801 37459)							NA				0													70	72	72			NA	NA	4		NA											NA				151168835		2203	4300	6503	SO:0001583	missense			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390	166614	166614			19002	protein-coding gene	gene with protein product		613166	doublecortin and CaM kinase-like 2	DCAMKL2	NA	12477932	Standard	NM_001040260	NM_001040260	NA	Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1859T>C	4.37:g.151168835T>C	ENSP00000296550:p.Ile620Thr	NA	C9J5Q9|Q59GC8|Q8N399	37	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	T	31	5.059723	0.93846	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.42900	0.96;0.96;0.96	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049932	0.85682	D	0.000000	T	0.64681	0.2620	M	0.74647	2.275	0.80722	D	1	D;P;D	0.62365	0.986;0.873;0.991	P;B;D	0.64877	0.885;0.385;0.93	T	0.67868	-0.5559	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	637;619;620	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	T	620;619;637	ENSP00000296550:I620T;ENSP00000427235:I619T;ENSP00000303887:I637T	ENSP00000296550:I620T	I	+	2	0	DCLK2	151388285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	ATC	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364952.1		+	ENST00000296550.7	Missense_Mutation	SNP	4 : 151168835 - 151168835 C PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	196	7
DSC1	1823	broad.mit.edu	37	18	28736086	28736086	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr18:28736086G>A	ENST00000257197.3	-	4	652	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	DSC1_ENST00000257198.5_Missense_Mutation_p.R131C|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	131					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.R131C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTCTTGCTGCGCTTGAGGGCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)											141	119	127			NA	NA	18		NA											NA				28736086		2203	4300	6503	SO:0001583	missense			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765	1823	1823		Cadherins / Major cadherins	3035	protein-coding gene	gene with protein product		125643			NA	8486729	Standard	NM_004948, NM_024421	NM_024421	NA	Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257197.3:c.391C>T	18.37:g.28736086G>A	ENSP00000257197:p.Arg131Cys	NA	Q9HB01	37	CCDS11895.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435632	0.83885	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.63744	-0.06;-0.06	5.66	3.76	0.43208	Cadherin-like (1);	0.277613	0.24083	N	0.041706	T	0.80732	0.4679	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	0.999;1.0	P;P	0.60609	0.791;0.877	D	0.86178	0.1604	10	0.87932	D	0	.	14.689	0.69070	0.0:0.0:0.74:0.26	.	131;131	Q08554;Q9HB00	DSC1_HUMAN;.	C	131	ENSP00000257197:R131C;ENSP00000257198:R131C	ENSP00000257197:R131C	R	-	1	0	DSC1	26990084	0.989000	0.36119	0.953000	0.39169	0.987000	0.75469	2.123000	0.41996	1.502000	0.48669	0.655000	0.94253	CGC	DSC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254945.1		-	ENST00000257197.3	Missense_Mutation	SNP	18 : 28736086 - 28736086 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	347	11
ENDOD1	23052	broad.mit.edu	37	11	94862206	94862206	+	Silent	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:94862206G>A	ENST00000278505.4	+	2	1084	c.966G>A	c.(964-966)gaG>gaA	p.E322E		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	322						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				AGGCATCTGAGGGAAGTAGTA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	64	65			NA	NA	11		NA											NA				94862206		1842	4084	5926	SO:0001819	synonymous_variant			BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218	23052	23052			29129	protein-coding gene	gene with protein product					NA	10048485	Standard	NM_015036	NM_015036	NA	Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.966G>A	11.37:g.94862206G>A		NA	Q8TAQ8	37	CCDS41699.1																																																																																			ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396545.1		+	ENST00000278505.4	Silent	SNP	11 : 94862206 - 94862206 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	376	29
EP300	2033	broad.mit.edu	37	22	41533755	41533755	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:41533755A>G	ENST00000263253.7	+	8	2940	c.1721A>G	c.(1720-1722)gAt>gGt	p.D574G		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	574	KIX.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGGCACGAAGATATTACTCAG	0.438		NA	T,  N, F, Mis, O	MLL, RUNXBP2	colorectal, breast, pancreatic, AML, ALL, DLBCL				Rubinstein-Taybi syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		L, E	0													112	94	100			NA	NA	22		NA											NA				41533755		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393	2033	2033		Chromatin-modifying enzymes / K-acetyltransferases	3373	protein-coding gene	gene with protein product	histone acetyltransferase p300	602700			NA	7523245	Standard	NM_001429	NM_001429	NA	Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1721A>G	22.37:g.41533755A>G	ENSP00000263253:p.Asp574Gly	NA	B1AKC2	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391655	0.83011	.	.	ENSG00000100393	ENST00000263253	D	0.83591	-1.74	5.85	5.85	0.93711	Coactivator CBP, KIX (4);	0.000000	0.47852	D	0.000203	T	0.77870	0.4195	N	0.03608	-0.345	0.54753	D	0.999982	P	0.46987	0.888	P	0.58620	0.842	T	0.78183	-0.2303	10	0.20046	T	0.44	-11.8926	16.2444	0.82434	1.0:0.0:0.0:0.0	.	574	Q09472	EP300_HUMAN	G	574	ENSP00000263253:D574G	ENSP00000263253:D574G	D	+	2	0	EP300	39863701	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.233000	0.73108	0.455000	0.32223	GAT	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320600.1		+	ENST00000263253.7	Missense_Mutation	SNP	22 : 41533755 - 41533755 G PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	396	29
ETV3L	440695	broad.mit.edu	37	1	157068532	157068532	+	Missense_Mutation	SNP	C	C	T	rs147712441	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:157068532C>T	ENST00000454449.2	-	3	736	c.452G>A	c.(451-453)cGg>cAg	p.R151Q		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	151			R -> W (in dbSNP:rs12083811).			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CAGCGCTGGCCGACACAGGGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG	2,4404	2.1+/-5.4	0,2,2201	38	43	41		452	-1	0.5	1	dbSNP_134	41	1,8599		0,1,4299	no	missense	ETV3L	NM_001004341.2	43	0,3,6500	TT,TC,CC	NA	0.0116,0.0454,0.0231	benign	151/362	157068532	3,13003	2203	4300	6503	SO:0001583	missense			AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831	440695	440695			33834	protein-coding gene	gene with protein product			ets variant gene 3-like		NA		Standard	NM_001004341	NM_001004341	NA	Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.452G>A	1.37:g.157068532C>T	ENSP00000430271:p.Arg151Gln	NA		37	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	C	1.717	-0.497505	0.04291	4.54E-4	1.16E-4	ENSG00000253831	ENST00000454449	T	0.08193	3.12	4.3	-1.01	0.10169	.	.	.	.	.	T	0.01124	0.0037	N	0.11201	0.11	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.46470	-0.9189	9	0.16896	T	0.51	.	10.2253	0.43222	0.0:0.5723:0.0:0.4277	.	151	Q6ZN32	ETV3L_HUMAN	Q	151	ENSP00000430271:R151Q	ENSP00000430271:R151Q	R	-	2	0	ETV3L	155335156	0.960000	0.32886	0.459000	0.27081	0.103000	0.19146	-1.036000	0.03560	-0.603000	0.05767	-0.797000	0.03246	CGG	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099024.2		-	ENST00000454449.2	Missense_Mutation	SNP	1 : 157068532 - 157068532 T PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	461	42
FBLN2	2199	broad.mit.edu	37	3	13612273	13612273	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:13612273G>A	ENST00000404922.3	+	2	537	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	FBLN2_ENST00000492059.1_Missense_Mutation_p.V140I|FBLN2_ENST00000295760.7_Missense_Mutation_p.V140I|FBLN2_ENST00000535798.1_Missense_Mutation_p.V166I	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	140	N.|Subdomain NA (Cys-rich).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGTGGGCTGCGTCCACGCGGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	13	11			NA	NA	3		NA											NA				13612273		2134	4218	6352	SO:0001583	missense			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520	2199	2199		Fibulins	3601	protein-coding gene	gene with protein product		135821			NA	7806230	Standard	NM_001004019	NM_001165035	NA	Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000404922.3:c.418G>A	3.37:g.13612273G>A	ENSP00000384169:p.Val140Ile	NA	B7Z9C5|Q8IUI0|Q8IUI1	37	CCDS46761.1	.	.	.	.	.	.	.	.	.	.	G	6.919	0.539238	0.13250	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000465610;ENST00000492059	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;1.44;-0.18	5.05	-4.8	0.03190	.	0.992466	0.08188	N	0.984342	T	0.46054	0.1373	L	0.46157	1.445	0.09310	N	1	B;B;B	0.14805	0.011;0.007;0.003	B;B;B	0.09377	0.004;0.003;0.002	T	0.38650	-0.9651	10	0.45353	T	0.12	.	2.9868	0.05971	0.4092:0.2291:0.2727:0.089	.	140;140;166	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	I	166;140;140;140;140	ENSP00000445705:V166I;ENSP00000384169:V140I;ENSP00000295760:V140I;ENSP00000420164:V140I;ENSP00000420042:V140I	ENSP00000295760:V140I	V	+	1	0	FBLN2	13587273	0.000000	0.05858	0.001000	0.08648	0.112000	0.19704	-0.627000	0.05521	-0.614000	0.05687	-0.252000	0.11476	GTC	FBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340082.4		+	ENST00000404922.3	Missense_Mutation	SNP	3 : 13612273 - 13612273 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	60	6
FBXO15	201456	broad.mit.edu	37	18	71790624	71790624	+	Missense_Mutation	SNP	G	G	A	rs144253482	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr18:71790624G>A	ENST00000419743.2	-	8	1196	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C	FBXO15_ENST00000269500.5_Missense_Mutation_p.R297C	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	297										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AAGAGATTGCGAAATGTACCA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	76	76	76		1117,889	4.6	0	18	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FBXO15	NM_001142958.1,NM_152676.2	180,180	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	probably-damaging,probably-damaging	373/511,297/435	71790624	2,13004	2203	4300	6503	SO:0001583	missense			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665	201456	201456		F-boxes /  other	13617	protein-coding gene	gene with protein product		609093	F-box only protein 15		NA	12665572	Standard	NM_152676	NM_152676	NA	Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1117C>T	18.37:g.71790624G>A	ENSP00000393154:p.Arg373Cys	NA		37	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822669	0.32237	2.27E-4	1.16E-4	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.46063	0.88;0.88	5.45	4.58	0.56647	.	0.718217	0.13850	N	0.358421	T	0.50837	0.1639	L	0.59436	1.845	0.09310	N	0.999999	D;D	0.76494	0.999;0.998	P;P	0.50490	0.642;0.549	T	0.46775	-0.9167	10	0.87932	D	0	-24.4827	14.1359	0.65287	0.0:0.1514:0.8486:0.0	.	373;297	B3KST3;Q8NCQ5	.;FBX15_HUMAN	C	297;373	ENSP00000269500:R297C;ENSP00000393154:R373C	ENSP00000269500:R297C	R	-	1	0	FBXO15	69941604	0.793000	0.28825	0.007000	0.13788	0.007000	0.05969	1.823000	0.39062	1.290000	0.44636	0.655000	0.94253	CGC	FBXO15-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444223.1		-	ENST00000419743.2	Missense_Mutation	SNP	18 : 71790624 - 71790624 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	321	24
FCER1A	2205	broad.mit.edu	37	1	159273851	159273851	+	Silent	SNP	T	T	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:159273851T>A	ENST00000368115.1	+	4	309	c.210T>A	c.(208-210)ctT>ctA	p.L70L	FCER1A_ENST00000368114.1_Silent_p.L37L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	70	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ATGGCAGCCTTTCAGAAGAGA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	72	72			NA	NA	1		NA											NA				159273851		2203	4300	6503	SO:0001819	synonymous_variant			BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639	2205	2205		Immunoglobulin superfamily / Immunoglobulin-like domain containing	3609	protein-coding gene	gene with protein product		147140		FCE1A	NA	8245459	Standard	NM_002001	NM_002001	NA	Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.210T>A	1.37:g.159273851T>A		NA		37	CCDS1184.1																																																																																			FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090328.2		+	ENST00000368115.1	Silent	SNP	1 : 159273851 - 159273851 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	412	39
FCN2	2220	broad.mit.edu	37	9	137772750	137772750	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:137772750C>T	ENST00000291744.6	+	1	93	c.83C>T	c.(82-84)gCg>gTg	p.A28V	FCN2_ENST00000350339.2_Missense_Mutation_p.A28V	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	28					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GCTCTCCAGGCGGCAGACACC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA,VAL/ALA	1,4403	4.2+/-10.8	0,1,2201	33	37	36		83,83	0.8	0.1	9		36	0,8600		0,0,4300	no	missense,missense	FCN2	NM_004108.2,NM_015837.2	64,64	0,1,6501	TT,TC,CC	NA	0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	28/314,28/276	137772750	1,13003	2202	4300	6502	SO:0001583	missense			D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339	2220	2220		Fibrinogen C domain containing	3624	protein-coding gene	gene with protein product	hucolin, collagen/fibrinogen domain-containing protein 2, ficolin B, serum lectin p35, L-ficolin	601624	ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)		NA	8884275	Standard	NM_004108	XM_006717015	NA	Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.83C>T	9.37:g.137772750C>T	ENSP00000291744:p.Ala28Val	NA	A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	37	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	C	9.967	1.224474	0.22457	2.27E-4	0.0	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.58506	0.33;0.63	0.821	0.821	0.18799	.	.	.	.	.	T	0.66597	0.2805	M	0.76574	2.34	0.09310	N	1	D;P	0.71674	0.998;0.718	P;B	0.60345	0.873;0.221	T	0.53823	-0.8384	9	0.62326	D	0.03	.	4.9504	0.14011	0.0:1.0:0.0:0.0	.	28;28	Q15485-2;Q15485	.;FCN2_HUMAN	V	28	ENSP00000291741:A28V;ENSP00000291744:A28V	ENSP00000291744:A28V	A	+	2	0	FCN2	136912571	0.001000	0.12720	0.084000	0.20598	0.162000	0.22319	0.255000	0.18333	0.713000	0.32060	0.467000	0.42956	GCG	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054960.1		+	ENST00000291744.6	Missense_Mutation	SNP	9 : 137772750 - 137772750 T PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	125	9
GPRIN1	114787	broad.mit.edu	37	5	176025336	176025336	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:176025336C>T	ENST00000303991.4	-	2	1677	c.1500G>A	c.(1498-1500)ttG>ttA	p.L500L		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	500						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCTGTCCCCAAGGACCTGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	85	83			NA	NA	5		NA											NA				176025336		2203	4298	6501	SO:0001819	synonymous_variant			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258	114787	114787			24835	protein-coding gene	gene with protein product		611239			NA	11572484	Standard	NM_052899	NM_052899	NA	Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1500G>A	5.37:g.176025336C>T		NA	C9JM70|Q8ND74|Q96PZ4	37	CCDS4405.1																																																																																			GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253149.1		-	ENST00000303991.4	Silent	SNP	5 : 176025336 - 176025336 T PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	667	31
HECW1	23072	broad.mit.edu	37	7	43447240	43447240	+	Silent	SNP	A	A	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:43447240A>G	ENST00000453890.1	+	7	1035	c.711A>G	c.(709-711)aaA>aaG	p.K237K	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000395891.2_Silent_p.K237K			Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	237	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCCTGGGAAACACAGCATCT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	54	54			NA	NA	7		NA											NA				43447240		1914	4153	6067	SO:0001819	synonymous_variant			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746	23072	23072			22195	protein-coding gene	gene with protein product		610384			NA	12690205, 14684739	Standard	NM_015052	XM_005249665	NA	Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000453890.1:c.711A>G	7.37:g.43447240A>G		NA	A7E2X0|A8MYS3|O15036|Q9HCC7	37																																																																																				HECW1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338775.1		+	ENST00000453890.1	Silent	SNP	7 : 43447240 - 43447240 G PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	240	20
HIPK3	10114	broad.mit.edu	37	11	33373261	33373261	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:33373261A>T	ENST00000303296.4	+	15	3220	c.2915A>T	c.(2914-2916)gAc>gTc	p.D972V	HIPK3_ENST00000379016.3_Missense_Mutation_p.D951V|HIPK3_ENST00000456517.1_Missense_Mutation_p.D951V|HIPK3_ENST00000525975.1_Missense_Mutation_p.D951V	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	972	Required for localization to nuclear speckles (By similarity).				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTTGTGGAGGACACTCATGAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	112	117			NA	NA	11		NA											NA				33373261		2202	4298	6500	SO:0001583	missense			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422	10114	10114			4915	protein-coding gene	gene with protein product		604424	homeodomain-interacting protein kinase 3		NA	9373137, 9748262	Standard	NM_005734	NM_005734	NA	Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2915A>T	11.37:g.33373261A>T	ENSP00000304226:p.Asp972Val	NA	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	37	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.091829	0.36952	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.52526	0.67;0.66;0.67;0.67	6.05	3.75	0.43078	.	0.268050	0.31821	N	0.007020	T	0.33702	0.0872	N	0.14661	0.345	0.30727	N	0.747639	B;B	0.33103	0.397;0.042	B;B	0.41571	0.36;0.056	T	0.34129	-0.9841	10	0.19147	T	0.46	.	10.2146	0.43160	0.8652:0.0:0.1348:0.0	.	951;972	Q9H422-2;Q9H422	.;HIPK3_HUMAN	V	951;972;951;951	ENSP00000431710:D951V;ENSP00000304226:D972V;ENSP00000368301:D951V;ENSP00000398241:D951V	ENSP00000304226:D972V	D	+	2	0	HIPK3	33329837	0.998000	0.40836	0.138000	0.22173	0.108000	0.19459	3.844000	0.55873	0.538000	0.28769	-0.263000	0.10527	GAC	HIPK3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255358.1		+	ENST00000303296.4	Missense_Mutation	SNP	11 : 33373261 - 33373261 T PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	345	27
HR	55806	broad.mit.edu	37	8	21985133	21985133	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:21985133C>T	ENST00000381418.4	-	3	2302	c.822G>A	c.(820-822)gtG>gtA	p.V274V	HR_ENST00000312841.8_Silent_p.V274V	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	274							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)		AGGTCCAGGGCACAGTGTCTG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	64	61			NA	NA	8		NA											NA				21985133		2203	4300	6503	SO:0001819	synonymous_variant			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.822G>A	8.37:g.21985133C>T		NA	Q6GS30|Q96H33|Q9NPE1	37	CCDS6022.1																																																																																			HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214213.1		-	ENST00000381418.4	Silent	SNP	8 : 21985133 - 21985133 T PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	631	46
KIR3DL3	115653	broad.mit.edu	37	19	55247491	55247491	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:55247491C>T	ENST00000291860.1	+	8	1179	c.1161C>T	c.(1159-1161)tgC>tgT	p.C387C	KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	387						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TGAATCACTGCGTTTTCACAC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	38	36			NA	NA	19		NA											NA				55247491		1799	3817	5616	SO:0001819	synonymous_variant			AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019	115653	115653		Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	16312	protein-coding gene	gene with protein product		610095			NA	11513144	Standard	NM_153443	NM_153443	NA	Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.1161C>T	19.37:g.55247491C>T		NA	A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	37	CCDS12903.1																																																																																			KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141147.1		+	ENST00000291860.1	Silent	SNP	19 : 55247491 - 55247491 T PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	254	56
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	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-IB-7885-Tumor-SM-2NW7K	113	8
KRBOX4	55634	broad.mit.edu	37	X	46332385	46332385	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:46332385G>C	ENST00000344302.4	+	6	1085	c.454G>C	c.(454-456)Gca>Cca	p.A152P	KRBOX4_ENST00000487081.1_3'UTR|KRBOX4_ENST00000478600.1_Intron|KRBOX4_ENST00000360017.5_3'UTR|KRBOX4_ENST00000298190.6_Missense_Mutation_p.A147P	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2			KRAB box domain containing 4	NA											NA						GTGGGAAAAGGCATTCAAAAC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	55	57			NA	NA	X		NA											NA				46332385		2203	4300	6503	SO:0001583	missense				CCDS14267.1, CCDS48097.1, CCDS48098.1	Xp11.3	2013-01-08	2013-01-08	2013-01-08	ENSG00000147121	ENSG00000147121	55634	55634		-	26007	protein-coding gene	gene with protein product	hypothetical protein FLJ20344	300585	zinc finger protein 673, zinc finger family member 673	ZNF673	NA	11944989	Standard	NM_017776	NM_001129898	NA	Approved	FLJ20344	uc004dgn.4	Q5JUW0	OTTHUMG00000021421	ENST00000344302.4:c.454G>C	X.37:g.46332385G>C	ENSP00000345797:p.Ala152Pro	NA		37	CCDS48097.1	.	.	.	.	.	.	.	.	.	.	G	0.196	-1.048919	0.01981	.	.	ENSG00000147121	ENST00000344302;ENST00000298190;ENST00000397212	T;T	0.00808	5.67;5.81	1.83	-0.221	0.13126	.	.	.	.	.	T	0.00608	0.0020	N	0.14661	0.345	0.20074	N	0.999931	B;B	0.30361	0.182;0.277	B;B	0.20955	0.014;0.032	T	0.47394	-0.9121	9	0.40728	T	0.16	.	2.7527	0.05285	0.1688:0.0:0.3345:0.4967	.	152;147	Q5JUW0;Q5JUW0-2	ZN673_HUMAN;.	P	152;147;152	ENSP00000345797:A152P;ENSP00000298190:A147P	ENSP00000298190:A147P	A	+	1	0	ZNF673	46217329	0.000000	0.05858	0.009000	0.14445	0.061000	0.15899	-0.063000	0.11655	-0.151000	0.11176	-0.330000	0.08379	GCA	KRBOX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056359.2		+	ENST00000344302.4	Missense_Mutation	SNP	X : 46332385 - 46332385 C PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	219	23
MRVI1	10335	broad.mit.edu	37	11	10645395	10645395	+	Silent	SNP	G	G	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:10645395G>T	ENST00000423302.2	-	10	1526	c.1377C>A	c.(1375-1377)atC>atA	p.I459I	MRVI1_ENST00000424001.1_Silent_p.I144I|MRVI1_ENST00000547195.1_Silent_p.I368I|MRVI1_ENST00000541483.1_Silent_p.I253I|MRVI1_ENST00000534266.2_Silent_p.I144I|MRVI1_ENST00000436272.1_Silent_p.I432I|MRVI1_ENST00000552103.1_Silent_p.I368I|MRVI1_ENST00000558540.1_Silent_p.I144I|MRVI1_ENST00000531107.1_Silent_p.I451I|MRVI1_ENST00000527509.2_Silent_p.I368I|MRVI1_ENST00000545852.1_Silent_p.I144I|MRVI1_ENST00000421747.1_Silent_p.I450I	NM_001206880.1|NM_130385.3	NP_001193809.1|NP_569056.4	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	432					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCTCATCAGGATGTGCTCCT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	98	99			NA	NA	11		NA											NA				10645395		1960	4122	6082	SO:0001819	synonymous_variant			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952	10335	10335			7237	protein-coding gene	gene with protein product	inositol 1,4,5-triphosphate-associated cGMP kinase substrate, IP3R-associated cGMP kinase substrate	604673			NA	10321731	Standard	NM_001098579	NM_001098579	NA	Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000423302.2:c.1377C>A	11.37:g.10645395G>T		NA	B7Z6I2|Q17S00|Q9UNY1	37	CCDS55746.1																																																																																			MRVI1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386137.2		-	ENST00000423302.2	Silent	SNP	11 : 10645395 - 10645395 T PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	239	17
MVB12B	89853	broad.mit.edu	37	9	129184132	129184132	+	Splice_Site	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:129184132G>A	ENST00000361171.3	+	7	743		c.e7-1		MVB12B_ENST00000436593.3_Splice_Site	NM_033446.2	NP_258257.1			multivesicular body subunit 12B	NA											NA						CTCTTCCTCAGGCACATCTCC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	144	155			NA	NA	9		NA											NA				129184132		2203	4300	6503	SO:0001630	splice_region_variant			AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814	89853	89853			23368	protein-coding gene	gene with protein product			chromosome 9 open reading frame 28, family with sequence similarity 125, member B	C9orf28, FAM125B	NA	18005716, 20654576, 22232651	Standard	XM_088525	NM_033446	NA	Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.663-1G>A	9.37:g.129184132G>A		NA		37	CCDS35142.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439940	0.43326	.	.	ENSG00000196814	ENST00000361171;ENST00000436593	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8661	0.92293	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM125B	128223953	1.000000	0.71417	0.999000	0.59377	0.443000	0.32047	6.759000	0.74934	2.526000	0.85167	0.585000	0.79938	.	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054110.1	Intron	+	ENST00000361171.3	Splice_Site	SNP	9 : 129184132 - 129184132 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	657	32
MYO7A	4647	broad.mit.edu	37	11	76918417	76918417	+	Silent	SNP	A	A	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:76918417A>G	ENST00000409709.3	+	42	6098	c.5826A>G	c.(5824-5826)ggA>ggG	p.G1942G	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Silent_p.G1893G|MYO7A_ENST00000458637.2_Silent_p.G1904G	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1942	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTCAGAGGGATTCAGCCTCT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	46	45			NA	NA	11		NA											NA				76918417		2056	4185	6241	SO:0001819	synonymous_variant			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474	4647	4647		A-kinase anchor proteins, Myosins / Myosin superfamily : Class VII	7606	protein-coding gene	gene with protein product		276903	myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))	USH1B, DFNB2, DFNA11	NA	8884266	Standard	NM_000260	NM_000260	NA	Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.5826A>G	11.37:g.76918417A>G		NA	P78427|Q13321|Q14785|Q92821|Q92822	37	CCDS53683.1																																																																																			MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328133.1		+	ENST00000409709.3	Silent	SNP	11 : 76918417 - 76918417 G PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	62	4
NCAM1	4684	broad.mit.edu	37	11	113126681	113126681	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:113126681C>T	ENST00000533760.1	+	15	2126	c.1527C>T	c.(1525-1527)gaC>gaT	p.D509D	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Silent_p.D627D	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	637	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGCAGGATGACGGCGGCTCCC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	38	38			NA	NA	11		NA											NA				113126681		1968	4146	6114	SO:0001819	synonymous_variant				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294	4684	4684		CD molecules, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7656	protein-coding gene	gene with protein product		116930			NA		Standard	NM_000615	NM_000615	NA	Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1527C>T	11.37:g.113126681C>T		NA	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	37																																																																																				NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000394068.2		+	ENST00000533760.1	Silent	SNP	11 : 113126681 - 113126681 T PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	68	7
NGF	4803	broad.mit.edu	37	1	115829233	115829233	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:115829233G>A	ENST00000369512.2	-	3	352	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	62					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CCCGCCACGCGTGCAGCTATC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	48	48			NA	NA	1		NA											NA				115829233		2203	4300	6503	SO:0001583	missense				CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259	4803	4803		Endogenous ligands	7808	protein-coding gene	gene with protein product		162030		NGFB	NA		Standard	NM_002506	XM_006710663	NA	Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.184C>T	1.37:g.115829233G>A	ENSP00000358525:p.Arg62Cys	NA	A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	37	CCDS882.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943321	0.34283	.	.	ENSG00000134259	ENST00000369512	T	0.63417	-0.04	5.06	-0.0542	0.13815	.	0.100578	0.42548	D	0.000686	T	0.58206	0.2106	M	0.77486	2.375	0.09310	N	0.999997	D	0.76494	0.999	P	0.51806	0.68	T	0.63184	-0.6694	10	0.87932	D	0	-22.5746	14.8749	0.70488	0.0:0.0:0.6922:0.3078	.	62	P01138	NGF_HUMAN	C	62	ENSP00000358525:R62C	ENSP00000358525:R62C	R	-	1	0	NGF	115630756	0.066000	0.20996	0.543000	0.28128	0.207000	0.24258	1.510000	0.35790	0.104000	0.17725	0.467000	0.42956	CGC	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032832.1		-	ENST00000369512.2	Missense_Mutation	SNP	1 : 115829233 - 115829233 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	287	20
NIN	51199	broad.mit.edu	37	14	51288700	51288700	+	Silent	SNP	T	T	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:51288700T>G	ENST00000530997.2	-	1	74	c.75A>C	c.(73-75)acA>acC	p.T25T	NIN_ENST00000324330.9_Silent_p.T25T|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000382041.3_Silent_p.T25T|NIN_ENST00000382043.4_Silent_p.T25T|NIN_ENST00000453196.1_Silent_p.T25T|NIN_ENST00000245441.5_Silent_p.T25T|NIN_ENST00000389868.3_Silent_p.T25T			Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	25	EF-hand 1.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCAGGGACCCTGTGCCCGTCG	0.582		NA	T	PDGFRB	MPD									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													259	236	244			NA	NA	14		NA											NA				51288700		2203	4300	6503	SO:0001819	synonymous_variant			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503	51199	51199		EF-hand domain containing	14906	protein-coding gene	gene with protein product		608684			NA	11004522, 11162463	Standard	NM_182946	NM_020921	NA	Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000530997.2:c.75A>C	14.37:g.51288700T>G		NA	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	37																																																																																				NIN-017	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000395210.2		-	ENST00000530997.2	Silent	SNP	14 : 51288700 - 51288700 G PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	1374	121
NRSN1	140767	broad.mit.edu	37	6	24145857	24145857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:24145857G>A	ENST00000378491.4	+	4	572	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	91					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		p.E91K(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CCCCAAAATCGAAGCATTTGG	0.488		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	EXOME	NA	NA	3e-04	SNP								NA				2	Substitution - Missense(2)	lung(1)|skin(1)											102	97	99			NA	NA	6		NA											NA				24145857		2203	4300	6503	SO:0001583	missense			AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954	140767	140767			17881	protein-coding gene	gene with protein product			vesicular membrane protein p24	VMP	NA	12463420	Standard	NM_080723	NM_080723	NA	Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.271G>A	6.37:g.24145857G>A	ENSP00000367752:p.Glu91Lys	NA	B2RAV4|Q8N8R6|Q96P21	37	CCDS4549.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	32	5.178898	0.94846	.	.	ENSG00000152954	ENST00000378491;ENST00000378477	T	0.24151	1.87	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.63877	0.919	T	0.50432	-0.8829	10	0.87932	D	0	5.9041	19.1095	0.93312	0.0:0.0:1.0:0.0	.	91	Q8IZ57	NRSN1_HUMAN	K	91	ENSP00000367752:E91K	ENSP00000367738:E91K	E	+	1	0	NRSN1	24253836	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	9.620000	0.98373	2.524000	0.85096	0.557000	0.71058	GAA	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043866.1		+	ENST00000378491.4	Missense_Mutation	SNP	6 : 24145857 - 24145857 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	497	41
OSBPL9	114883	broad.mit.edu	37	1	52249642	52249642	+	Missense_Mutation	SNP	C	C	G	rs61743086	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:52249642C>G	ENST00000371714.1	+	20	2030	c.1530C>G	c.(1528-1530)atC>atG	p.I510M	OSBPL9_ENST00000486942.1_Missense_Mutation_p.I345M|OSBPL9_ENST00000531828.1_Missense_Mutation_p.I358M|OSBPL9_ENST00000361556.5_Missense_Mutation_p.I413M|OSBPL9_ENST00000337809.4_Missense_Mutation_p.I528M|OSBPL9_ENST00000435686.2_Missense_Mutation_p.I358M|OSBPL9_ENST00000530544.1_Missense_Mutation_p.I442M|OSBPL9_ENST00000453295.1_Missense_Mutation_p.I506M|OSBPL9_ENST00000462759.1_Missense_Mutation_p.I345M|OSBPL9_ENST00000447887.1_Missense_Mutation_p.I533M|OSBPL9_ENST00000371710.3_Missense_Mutation_p.I541M|OSBPL9_ENST00000428468.1_Missense_Mutation_p.I523M			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	523					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATGCTCATATCTGGACCAAAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	91	92			NA	NA	1		NA											NA				52249642		2203	4300	6503	SO:0001583	missense			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859	114883	114883		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	16386	protein-coding gene	gene with protein product		606737			NA		Standard		NM_148904	NA	Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000371714.1:c.1530C>G	1.37:g.52249642C>G	ENSP00000360779:p.Ile510Met	NA	B1AKJ8|D3DQ31|Q5TFC0|Q6IA67|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	37	CCDS55598.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078450	0.55753	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.24	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.65037	0.2653	M	0.93594	3.435	0.58432	D	0.999993	D;D;D;D;D	0.76494	0.996;0.991;0.996;0.993;0.999	D;D;D;D;D	0.78314	0.991;0.952;0.969;0.969;0.984	T	0.76353	-0.2990	10	0.87932	D	0	-10.3454	14.7454	0.69488	0.2284:0.7716:0.0:0.0	.	506;413;539;523;528	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	M	510;541;528;533;358;523;506;442;358;413;345;345	ENSP00000360779:I510M;ENSP00000360775:I541M;ENSP00000337265:I528M;ENSP00000412733:I533M;ENSP00000402646:I358M;ENSP00000407168:I523M;ENSP00000413263:I506M;ENSP00000433675:I442M;ENSP00000433083:I358M;ENSP00000354970:I413M;ENSP00000433279:I345M;ENSP00000431980:I345M	ENSP00000337265:I528M	I	+	3	3	OSBPL9	52022230	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.768000	0.26590	1.362000	0.46000	0.555000	0.69702	ATC	OSBPL9-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022581.4		+	ENST00000371714.1	Missense_Mutation	SNP	1 : 52249642 - 52249642 G PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	416	23
OSBPL9	114883	broad.mit.edu	37	1	52249653	52249653	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:52249653C>T	ENST00000371714.1	+	20	2041	c.1541C>T	c.(1540-1542)tCa>tTa	p.S514L	OSBPL9_ENST00000486942.1_Missense_Mutation_p.S349L|OSBPL9_ENST00000531828.1_Missense_Mutation_p.S362L|OSBPL9_ENST00000361556.5_Missense_Mutation_p.S417L|OSBPL9_ENST00000337809.4_Missense_Mutation_p.S532L|OSBPL9_ENST00000435686.2_Missense_Mutation_p.S362L|OSBPL9_ENST00000530544.1_Missense_Mutation_p.S446L|OSBPL9_ENST00000453295.1_Missense_Mutation_p.S510L|OSBPL9_ENST00000462759.1_Missense_Mutation_p.S349L|OSBPL9_ENST00000447887.1_Missense_Mutation_p.S537L|OSBPL9_ENST00000371710.3_Missense_Mutation_p.S545L|OSBPL9_ENST00000428468.1_Missense_Mutation_p.S527L			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	527					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TGGACCAAATCAAAATTCCTT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	88	89			NA	NA	1		NA											NA				52249653		2203	4300	6503	SO:0001583	missense			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859	114883	114883		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	16386	protein-coding gene	gene with protein product		606737			NA		Standard		NM_148904	NA	Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000371714.1:c.1541C>T	1.37:g.52249653C>T	ENSP00000360779:p.Ser514Leu	NA	B1AKJ8|D3DQ31|Q5TFC0|Q6IA67|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	37	CCDS55598.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236229	0.95240	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	M	0.80332	2.49	0.80722	D	1	D;D;D;D;D	0.89917	0.994;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.985;0.997;0.994;0.997;0.999	T	0.64753	-0.6333	10	0.87932	D	0	-18.1822	19.0133	0.92882	0.0:1.0:0.0:0.0	.	510;417;543;527;532	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	L	514;545;532;537;362;527;510;446;362;417;349;349	ENSP00000360779:S514L;ENSP00000360775:S545L;ENSP00000337265:S532L;ENSP00000412733:S537L;ENSP00000402646:S362L;ENSP00000407168:S527L;ENSP00000413263:S510L;ENSP00000433675:S446L;ENSP00000433083:S362L;ENSP00000354970:S417L;ENSP00000433279:S349L;ENSP00000431980:S349L	ENSP00000337265:S532L	S	+	2	0	OSBPL9	52022241	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.576000	0.82467	2.729000	0.93468	0.555000	0.69702	TCA	OSBPL9-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022581.4		+	ENST00000371714.1	Missense_Mutation	SNP	1 : 52249653 - 52249653 T PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	427	20
OSBPL9	114883	broad.mit.edu	37	1	52249970	52249970	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:52249970C>T	ENST00000371714.1	+	21	2120	c.1620C>T	c.(1618-1620)taC>taT	p.Y540Y	OSBPL9_ENST00000486942.1_Silent_p.Y375Y|OSBPL9_ENST00000531828.1_Silent_p.Y388Y|OSBPL9_ENST00000361556.5_Silent_p.Y443Y|OSBPL9_ENST00000337809.4_Silent_p.Y558Y|OSBPL9_ENST00000435686.2_Silent_p.Y388Y|OSBPL9_ENST00000530544.1_Silent_p.Y472Y|OSBPL9_ENST00000453295.1_Silent_p.Y536Y|OSBPL9_ENST00000462759.1_Silent_p.Y375Y|OSBPL9_ENST00000447887.1_Silent_p.Y563Y|OSBPL9_ENST00000371710.3_Silent_p.Y571Y|OSBPL9_ENST00000428468.1_Silent_p.Y553Y			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	553					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATGAACATTACATTCTCACAT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													217	185	195			NA	NA	1		NA											NA				52249970		2203	4300	6503	SO:0001819	synonymous_variant			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859	114883	114883		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	16386	protein-coding gene	gene with protein product		606737			NA		Standard		NM_148904	NA	Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000371714.1:c.1620C>T	1.37:g.52249970C>T		NA	B1AKJ8|D3DQ31|Q5TFC0|Q6IA67|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	37	CCDS55598.1																																																																																			OSBPL9-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022581.4		+	ENST00000371714.1	Silent	SNP	1 : 52249970 - 52249970 T PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	583	52
PACSIN3	29763	broad.mit.edu	37	11	47203984	47203984	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:47203984C>T	ENST00000539589.1	-	4	523	c.181G>A	c.(181-183)Gcc>Acc	p.A61T	PACSIN3_ENST00000298838.6_Missense_Mutation_p.A61T	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	61	FCH.		A -> V (in dbSNP:rs7106654).		endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CACTTTCGGGCCCAGTCAGCC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	51	53			NA	NA	11		NA											NA				47203984		2201	4298	6499	SO:0001583	missense			AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912	29763	29763			8572	protein-coding gene	gene with protein product	syndapin III	606513			NA	10531379	Standard	NM_016223	NM_016223	NA	Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.181G>A	11.37:g.47203984C>T	ENSP00000440945:p.Ala61Thr	NA	A6NH84|Q9H331|Q9NWV9	37	CCDS31481.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497427	0.64186	.	.	ENSG00000165912	ENST00000298838;ENST00000415232;ENST00000539589;ENST00000528462;ENST00000531226;ENST00000525725;ENST00000530405;ENST00000524509	T;T;T;T;T;T;T	0.52526	2.31;2.31;2.31;0.66;0.66;0.66;0.66	5.01	5.01	0.66863	Fps/Fes/Fer/CIP4 homology (3);	0.167650	0.52532	D	0.000063	T	0.40932	0.1137	L	0.46885	1.475	0.58432	D	0.999998	P	0.45531	0.86	B	0.43838	0.433	T	0.26849	-1.0091	10	0.40728	T	0.16	-13.7472	7.1565	0.25641	0.218:0.6951:0.0:0.0869	.	61	Q9UKS6	PACN3_HUMAN	T	61	ENSP00000298838:A61T;ENSP00000440945:A61T;ENSP00000437252:A61T;ENSP00000434699:A61T;ENSP00000435638:A61T;ENSP00000435672:A61T;ENSP00000431861:A61T	ENSP00000298838:A61T	A	-	1	0	PACSIN3	47160560	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.895000	0.48648	2.511000	0.84671	0.561000	0.74099	GCC	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391632.1		-	ENST00000539589.1	Missense_Mutation	SNP	11 : 47203984 - 47203984 T PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	447	33
PARD3B	117583	broad.mit.edu	37	2	205829959	205829959	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:205829959G>A	ENST00000406610.2	+	3	514	c.307G>A	c.(307-309)Gct>Act	p.A103T	PARD3B_ENST00000351153.1_Missense_Mutation_p.A103T|PARD3B_ENST00000358768.2_Missense_Mutation_p.A103T|PARD3B_ENST00000462231.1_Missense_Mutation_p.A103T|PARD3B_ENST00000349953.3_Missense_Mutation_p.A103T	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	103					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GAGCCCAGATGCTTTTGAGAC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	85	85			NA	NA	2		NA											NA				205829959		1854	4098	5952	SO:0001583	missense			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117	117583	117583			14446	protein-coding gene	gene with protein product			amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19, par-3 partitioning defective 3 homolog B (C. elegans)	ALS2CR19	NA	11586298, 12459187	Standard	NM_057177	NM_057177	NA	Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.307G>A	2.37:g.205829959G>A	ENSP00000385848:p.Ala103Thr	NA	Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	37		.	.	.	.	.	.	.	.	.	.	G	17.38	3.375436	0.61735	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.61	3.73	0.42828	.	0.220595	0.39020	N	0.001496	T	0.29355	0.0731	N	0.14661	0.345	0.26617	N	0.972736	P;P;P;P;P	0.49358	0.814;0.923;0.87;0.716;0.818	P;P;P;B;B	0.46796	0.458;0.527;0.525;0.407;0.167	T	0.08027	-1.0742	10	0.28530	T	0.3	.	11.2408	0.48968	0.0:0.2451:0.5704:0.1845	.	103;103;103;103;103	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	T	103	ENSP00000385848:A103T;ENSP00000351618:A103T;ENSP00000317261:A103T;ENSP00000340280:A103T	ENSP00000340280:A103T	A	+	1	0	PARD3B	205538204	0.558000	0.26554	1.000000	0.80357	0.984000	0.73092	1.066000	0.30604	2.635000	0.89317	0.563000	0.77884	GCT	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000335992.1		+	ENST00000406610.2	Missense_Mutation	SNP	2 : 205829959 - 205829959 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	229	17
PCDHGA7	56108	broad.mit.edu	37	5	140763117	140763117	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:140763117C>T	ENST00000518325.1	+	1	651	c.651C>T	c.(649-651)ggC>ggT	p.G217G	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018920.2	NP_061743.1			protocadherin gamma subfamily A, 7	NA										NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTGATGGCGGCGACCCGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	20	19			NA	NA	5		NA											NA				140763117		2089	4208	6297	SO:0001819	synonymous_variant			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537	56108	56108		Cadherins / Protocadherins : Clustered	8705	other	protocadherin		606294			NA	10380929	Standard	NM_018920	NM_018920	NA	Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.651C>T	5.37:g.140763117C>T		NA		37	CCDS54927.1																																																																																			PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374744.1		+	ENST00000518325.1	Silent	SNP	5 : 140763117 - 140763117 T PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	108	5
PCLO	27445	broad.mit.edu	37	7	82584750	82584750	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:82584750T>C	ENST00000333891.9	-	5	5856	c.5519A>G	c.(5518-5520)gAa>gGa	p.E1840G	PCLO_ENST00000423517.2_Missense_Mutation_p.E1840G	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	NA					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACGTAACTCTTCTGTCGGAGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													224	206	212			NA	NA	7		NA											NA				82584750		1870	4105	5975	SO:0001583	missense			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472	27445	27445			13406	protein-coding gene	gene with protein product	aczonin	604918	piccolo (presynaptic cytomatrix protein)		NA	8900486, 9628581	Standard	NM_014510	NM_014510	NA	Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5519A>G	7.37:g.82584750T>C	ENSP00000334319:p.Glu1840Gly	NA	A4D1A7|A6NNX9|O43373|O60305|Q08E72|Q9BVC8|Q9UIV2|Q9Y6U9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.855731	0.32791	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.30448	1.53;1.55	5.57	5.57	0.84162	.	.	.	.	.	T	0.42585	0.1209	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67382	0.951;0.951	T	0.41645	-0.9497	9	0.87932	D	0	.	15.7247	0.77747	0.0:0.0:0.0:1.0	.	1840;1840	Q9Y6V0-5;Q9Y6V0-6	.;.	G	1771;1840;1840	ENSP00000334319:E1840G;ENSP00000388393:E1840G	ENSP00000334319:E1840G	E	-	2	0	PCLO	82422686	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.013000	0.88655	2.116000	0.64780	0.533000	0.62120	GAA	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337368.5		-	ENST00000333891.9	Missense_Mutation	SNP	7 : 82584750 - 82584750 C PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	952	82
PLXNB3	5365	broad.mit.edu	37	X	153035996	153035996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:153035996G>A	ENST00000361971.5	+	10	2023	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M	PLXNB3_ENST00000538282.1_Missense_Mutation_p.V247M|PLXNB3_ENST00000538966.1_Missense_Mutation_p.V660M|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Missense_Mutation_p.V290M	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	637					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCGCGCTTGCGTGGGCAGCAT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	29	29			NA	NA	X		NA											NA				153035996		2191	4291	6482	SO:0001583	missense			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753	5365	5365		Plexins	9105	protein-coding gene	gene with protein product		300214		PLXN6	NA	10520995	Standard		NM_005393	NA	Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1909G>A	X.37:g.153035996G>A	ENSP00000355378:p.Val637Met	NA	Q9HDA4	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	g	15.37	2.812203	0.50527	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.73789	4.84;4.8;4.25;-0.78	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.87309	0.6145	M	0.85630	2.765	0.37423	D	0.9137	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.994;0.999	D	0.90934	0.4792	10	0.66056	D	0.02	.	15.3352	0.74247	0.0:0.0:1.0:0.0	.	290;319;660;637	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	M	660;637;290;247	ENSP00000442736:V660M;ENSP00000355378:V637M;ENSP00000445569:V290M;ENSP00000441919:V247M	ENSP00000355378:V637M	V	+	1	0	PLXNB3	152689190	1.000000	0.71417	0.991000	0.47740	0.032000	0.12392	3.590000	0.53979	2.212000	0.71576	0.525000	0.51046	GTG	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061063.1		+	ENST00000361971.5	Missense_Mutation	SNP	X : 153035996 - 153035996 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	122	9
PRUNE2	158471	broad.mit.edu	37	9	79325846	79325846	+	Silent	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:79325846G>A	ENST00000376718.3	-	8	1467	c.1344C>T	c.(1342-1344)gaC>gaT	p.D448D	PRUNE2_ENST00000428286.1_Silent_p.D89D	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	448					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGGGGCTGTCGTCACTGAGGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	42	43			NA	NA	9		NA											NA				79325846		1568	3582	5150	SO:0001819	synonymous_variant			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772	158471	158471			25209	protein-coding gene	gene with protein product	olfaxin	610691	chromosome 9 open reading frame 65, KIAA0367	C9orf65, KIAA0367	NA	16288218	Standard	NM_138818	NM_015225	NA	Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.1344C>T	9.37:g.79325846G>A		NA	B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	37	CCDS47982.1																																																																																			PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052730.2		-	ENST00000376718.3	Silent	SNP	9 : 79325846 - 79325846 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	218	20
PSMC2	5701	broad.mit.edu	37	7	102996160	102996160	+	Silent	SNP	T	T	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:102996160T>C	ENST00000435765.1	+	5	621	c.210T>C	c.(208-210)acT>acC	p.T70T	PSMC2_ENST00000544811.1_Intron|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Silent_p.T70T|SLC26A5_ENST00000393735.2_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	70					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AATCTGACACTGGCCTGGCCC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	93	94			NA	NA	7		NA											NA				102996160		2203	4300	6503	SO:0001819	synonymous_variant			D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057	5701	5701		Proteasome (prosome, macropain) subunits, ATPases / AAA-type	9548	protein-coding gene	gene with protein product	proteasome 26S subunit, ATPase, 2, mammalian suppressor of sgv-1 of yeast, protease 26S subunit 7, putative protein product of Nbla10058	154365			NA	9473509, 1377363	Standard	NM_002803	NM_002803	NA	Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.210T>C	7.37:g.102996160T>C		NA	A4D0Q1|Q3LIA5|Q9UDI3	37	CCDS5731.1																																																																																			PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347922.1		+	ENST00000435765.1	Silent	SNP	7 : 102996160 - 102996160 C PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	211	16
RTEL1	51750	broad.mit.edu	37	20	62292776	62292776	+	Silent	SNP	G	G	A	rs116624637	by1000genomes	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:62292776G>A	ENST00000370018.3	+	3	1055	c.228G>A	c.(226-228)gcG>gcA	p.A76A	RTEL1_ENST00000318100.4_Silent_p.A76A|RTEL1_ENST00000508582.2_Silent_p.A76A|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.A76A|RTEL1_ENST00000488316.1_3'UTR|RTEL1_ENST00000360203.5_Silent_p.A76A	NM_016434.3|NM_032957.4	NP_057518.1|NP_116575.3	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	76	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCGAGAGGGCGCAAGGAGAGC	0.637		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	0.001	SNP								NA				0													70	64	66			NA	NA	20		NA											NA				62292776		2203	4300	6503	SO:0001819	synonymous_variant			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366	51750	51750			15888	protein-coding gene	gene with protein product		608833	chromosome 20 open reading frame 41	C20orf41	NA	10655513, 15210109	Standard	NM_032957	NM_016434	NA	Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000370018.3:c.228G>A	20.37:g.62292776G>A		NA	A2A397|A2A398|B4DRM5|B4DYM3|B4E3N6|E1P5J4|E1P5J5|Q5JTV3|Q5JTV4|Q9BW37|Q9H402|Q9H4X6|Q9NX25|Q9NZ73|Q9UPR4|Q9Y4R6	37	CCDS13531.1																																																																																			RTEL1-001	KNOWN	non_canonical_TEC|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080173.1		+	ENST00000370018.3	Silent	SNP	20 : 62292776 - 62292776 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	268	15
SEC16B	89866	broad.mit.edu	37	1	177934213	177934213	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:177934213G>C	ENST00000308284.6	-	4	591	c.502C>G	c.(502-504)Cca>Gca	p.P168A	SEC16B_ENST00000464631.2_Missense_Mutation_p.P168A|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	168	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GTTCCAAATGGACTGTGCTGG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	114	115			NA	NA	1		NA											NA				177934213		1930	4138	6068	SO:0001583	missense			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341	89866	89866			30301	protein-coding gene	gene with protein product	regucalcin gene promotor region related protein	612855	leucine zipper transcription regulator 2	LZTR2	NA	11572484, 11605020	Standard	NM_033127	NM_033127	NA	Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.502C>G	1.37:g.177934213G>C	ENSP00000308339:p.Pro168Ala	NA	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	37	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	9.492	1.100919	0.20552	.	.	ENSG00000120341	ENST00000308284;ENST00000464631	T;T	0.44482	2.51;0.92	5.49	-8.05	0.01106	.	1.562370	0.03228	N	0.178526	T	0.26412	0.0645	L	0.50333	1.59	0.09310	N	1	B;B;B	0.25563	0.129;0.055;0.055	B;B;B	0.21151	0.033;0.03;0.03	T	0.16394	-1.0404	10	0.15066	T	0.55	5.5521	1.2287	0.01939	0.4395:0.1985:0.1517:0.2103	.	168;168;168	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	A	168	ENSP00000308339:P168A;ENSP00000431727:P168A	ENSP00000308339:P168A	P	-	1	0	AL359075.1	176200836	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.828000	0.04419	-1.710000	0.01397	-0.909000	0.02823	CCA	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084773.16		-	ENST00000308284.6	Missense_Mutation	SNP	1 : 177934213 - 177934213 C PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	101	7
SH2D4A	63898	broad.mit.edu	37	8	19250984	19250984	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:19250984G>A	ENST00000518040.1	+	8	1151	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T	SH2D4A_ENST00000265807.3_Missense_Mutation_p.A402T|SH2D4A_ENST00000519207.1_Missense_Mutation_p.A402T			Q9H788	SH24A_HUMAN	SH2 domain containing 4A	402	SH2.					cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		CTCTGCAGACGCCTACAGCTT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	76	80			NA	NA	8		NA											NA				19250984		2203	4300	6503	SO:0001583	missense			AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611	63898	63898		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, SH2 domain containing	26102	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 38	614968			NA		Standard	NM_022071	NM_022071	NA	Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000518040.1:c.1069G>A	8.37:g.19250984G>A	ENSP00000429482:p.Ala357Thr	NA	Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	37	CCDS55206.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.602992	0.28534	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207	T;T;T	0.62639	0.01;0.01;0.01	5.89	3.48	0.39840	SH2 motif (4);	0.143839	0.49916	D	0.000129	T	0.32315	0.0825	N	0.01656	-0.775	0.21740	N	0.999567	B;B	0.28026	0.198;0.064	B;B	0.28784	0.094;0.039	T	0.20672	-1.0268	10	0.19590	T	0.45	.	12.1602	0.54099	0.0:0.0:0.2721:0.7279	.	357;402	B4DDR1;Q9H788	.;SH24A_HUMAN	T	402;357;402	ENSP00000265807:A402T;ENSP00000429482:A357T;ENSP00000428684:A402T	ENSP00000265807:A402T	A	+	1	0	SH2D4A	19295264	1.000000	0.71417	0.996000	0.52242	0.276000	0.26787	3.207000	0.51106	0.468000	0.27243	-1.262000	0.01453	GCC	SH2D4A-002	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374896.1		+	ENST00000518040.1	Missense_Mutation	SNP	8 : 19250984 - 19250984 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	363	30
SLC25A10	1468	broad.mit.edu	37	17	79673938	79673938	+	Silent	SNP	G	G	A	rs140892819		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:79673938G>A	ENST00000571730.1	+	4	479	c.348G>A	c.(346-348)gcG>gcA	p.A116A	SLC25A10_ENST00000541223.1_Silent_p.A116A|MRPL12_ENST00000333676.3_Silent_p.A116A			Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TCCCTAAGGCGGTGGAAGAAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A		1,4405	2.1+/-5.4	0,1,2202	60	51	54		348	-7.6	0	17	dbSNP_134	54	0,8600		0,0,4300	no	coding-synonymous	MRPL12	NM_002949.3		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		116/199	79673938	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048	1468	1468		Solute carriers	10980	protein-coding gene	gene with protein product		606794		DIC	NA	9733776, 10072589	Standard		NM_001270953	NA	Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000571730.1:c.348G>A	17.37:g.79673938G>A		NA	Q542Z3|Q96BA1|Q96IP1	37																																																																																				SLC25A10-001	NOVEL	basic|appris_principal|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000440813.1		+	ENST00000571730.1	Silent	SNP	17 : 79673938 - 79673938 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	189	12
SLCO1C1	53919	broad.mit.edu	37	12	20854341	20854341	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:20854341G>T	ENST00000266509.2	+	3	587	c.219G>T	c.(217-219)agG>agT	p.R73S	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.R73S|SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.R73S|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.R73S	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	73					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TAGAGAGAAGGTTTGATATCC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	175	189			NA	NA	12		NA											NA				20854341		2203	4300	6503	SO:0001583	missense			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155	53919	53919		Solute carriers	13819	protein-coding gene	gene with protein product		613389	solute carrier family 21 (organic anion transporter), member 14	SLC21A14	NA		Standard	NM_017435	NM_017435	NA	Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.219G>T	12.37:g.20854341G>T	ENSP00000266509:p.Arg73Ser	NA		37	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611539	0.66558	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.09	2.07	0.26955	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	H	0.95611	3.695	0.45205	D	0.998213	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.995	T	0.76691	-0.2866	10	0.87932	D	0	.	6.9954	0.24779	0.3913:0.0:0.6087:0.0	.	73;73;73	B7Z3Q3;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	S	73	ENSP00000444149:R73S;ENSP00000438665:R73S;ENSP00000266509:R73S;ENSP00000370964:R73S	ENSP00000266509:R73S	R	+	3	2	SLCO1C1	20745608	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.428000	0.21395	0.740000	0.32651	0.655000	0.94253	AGG	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401765.1		+	ENST00000266509.2	Missense_Mutation	SNP	12 : 20854341 - 20854341 T PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	488	37
SMPD4	55627	broad.mit.edu	37	2	130921950	130921950	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:130921950G>C	ENST00000409031.1	-	10	2126	c.978C>G	c.(976-978)gcC>gcG	p.A326A	SMPD4_ENST00000339679.7_Silent_p.A213A|SMPD4_ENST00000453750.1_Silent_p.A104A|SMPD4_ENST00000426662.2_Missense_Mutation_p.P40R|SMPD4_ENST00000431183.2_Silent_p.A253A|SMPD4_ENST00000452225.2_Missense_Mutation_p.P40R|SMPD4_ENST00000351288.6_Silent_p.A326A|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000443958.2_Silent_p.A19A	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	287					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AACATACCTTGGCATGAGGGG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	102	110			NA	NA	2		NA											NA				130921950		2203	4300	6503	SO:0001819	synonymous_variant			AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699	55627	55627			32949	protein-coding gene	gene with protein product		610457			NA	16517606	Standard	NM_017751	NM_001171083	NA	Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.978C>G	2.37:g.130921950G>C		NA	Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	37	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	4.526|4.526	0.097659|0.097659	0.08681|0.08681	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000439886;ENST00000452225;ENST00000426662|ENST00000430682	.|.	.|.	.|.	4.17|4.17	3.28|3.28	0.37604|0.37604	.|.	.|.	.|.	.|.	.|.	T|T	0.53932|0.53932	0.1827|0.1827	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;P|.	0.41131|.	0.035;0.739|.	B;B|.	0.33121|.	0.017;0.158|.	T|T	0.47156|0.47156	-0.9139|-0.9139	7|4	0.41790|.	T|.	0.15|.	.|.	5.3514|5.3514	0.16038|0.16038	0.1079:0.0:0.6939:0.1982|0.1079:0.0:0.6939:0.1982	.|.	40;40|.	B4E0L6;B4DQ31|.	.;.|.	R|E	155;40;40|116	.|.	ENSP00000397479:P40R|.	P|Q	-|-	2|1	0|0	SMPD4|SMPD4	130638420|130638420	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	0.994000|0.994000	0.29693|0.29693	0.733000|0.733000	0.32492|0.32492	0.557000|0.557000	0.71058|0.71058	CCA|CAA	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254516.3		-	ENST00000409031.1	Silent	SNP	2 : 130921950 - 130921950 C PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	262	7
SNAP29	9342	broad.mit.edu	37	22	21213614	21213614	+	Silent	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:21213614G>A	ENST00000215730.7	+	1	344	c.216G>A	c.(214-216)aaG>aaA	p.K72K		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	NA					cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			AGTCCGAGAAGGTTGGGGTCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	27	27			NA	NA	22		NA											NA				21213614		2200	4295	6495	SO:0001819	synonymous_variant			AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940	9342	9342			11133	protein-coding gene	gene with protein product	soluble 29 kDa NSF attachment protein	604202	synaptosomal-associated protein, 29kD		NA	9852078, 10591208	Standard	NM_004782	NM_004782	NA	Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.216G>A	22.37:g.21213614G>A		NA		37	CCDS13784.1																																																																																			SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320000.4		+	ENST00000215730.7	Silent	SNP	22 : 21213614 - 21213614 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	120	10
SPTA1	6708	broad.mit.edu	37	1	158596687	158596687	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:158596687T>G	ENST00000368147.4	-	41	5955	c.5775A>C	c.(5773-5775)gaA>gaC	p.E1925D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATAATCGTCTTCCAATTGCA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	172	174			NA	NA	1		NA											NA				158596687		1869	4111	5980	SO:0001583	missense			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	6708	6708		EF-hand domain containing	11272	protein-coding gene	gene with protein product	elliptocytosis 2	182860	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		NA		Standard	NM_003126	NM_003126	NA	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5775A>C	1.37:g.158596687T>G	ENSP00000357129:p.Glu1925Asp	NA	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	1.984	-0.433334	0.04669	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.39997	1.05;1.05	5.41	-3.96	0.04106	.	0.513432	0.14584	N	0.310658	T	0.04634	0.0126	N	0.17564	0.495	0.21416	N	0.999695	B	0.06786	0.001	B	0.09377	0.004	T	0.33854	-0.9852	10	0.09338	T	0.73	.	0.247	0.00200	0.2871:0.2601:0.2146:0.2382	.	1925	P02549	SPTA1_HUMAN	D	1925;1922	ENSP00000357130:E1925D;ENSP00000357129:E1922D	ENSP00000357129:E1922D	E	-	3	2	SPTA1	156863311	0.995000	0.38212	0.001000	0.08648	0.340000	0.28889	0.254000	0.18314	-0.327000	0.08551	0.460000	0.39030	GAA	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051851.3		-	ENST00000368147.4	Missense_Mutation	SNP	1 : 158596687 - 158596687 G PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	771	48
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48873884	48873884	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:48873884C>T	ENST00000394754.1	+	8	2907	c.2793C>T	c.(2791-2793)atC>atT	p.I931I	STON1-GTF2A1L_ENST00000394751.3_Silent_p.I884I|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000402114.2_Silent_p.I931I|GTF2A1L_ENST00000430487.2_Silent_p.I193I|GTF2A1L_ENST00000403751.3_Silent_p.I227I|STON1-GTF2A1L_ENST00000405008.1_Silent_p.I931I|STON1-GTF2A1L_ENST00000309827.2_Silent_p.I931I	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN	STON1-GTF2A1L readthrough	884					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCATAAAATCGTGCCTGAAG	0.413		NA											C	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0													120	108	112			NA	NA	2		NA											NA				48873884		2203	4300	6503	SO:0001819	synonymous_variant			AF026169	CCDS1840.1, CCDS56118.1, CCDS56119.1	2p16.3	2009-09-17			ENSG00000068781	ENSG00000068781	286749	286749			30651	other	readthrough	stoned B/TFIIA alpha/beta like factor				NA	10364255, 11159353	Standard		NM_172311	NA	Approved	SALF	uc010yol.2		OTTHUMG00000152037	ENST00000394754.1:c.2793C>T	2.37:g.48873884C>T		NA		37	CCDS1840.1																																																																																			STON1-GTF2A1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251241.1		+	ENST00000394754.1	Silent	SNP	2 : 48873884 - 48873884 T PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	440	23
TAF1	6872	broad.mit.edu	37	X	70627893	70627893	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:70627893A>G	ENST00000373790.4	+	28	4324	c.4273A>G	c.(4273-4275)Atg>Gtg	p.M1425V	TAF1_ENST00000276072.3_Missense_Mutation_p.M1446V|TAF1_ENST00000423759.1_Missense_Mutation_p.M1446V|TAF1_ENST00000449580.1_Missense_Mutation_p.M1425V	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1425	Bromo 1.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CACTCGGCCAATGGACCTACA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	132	152			NA	NA	X		NA											NA				70627893		2203	4300	6503	SO:0001583	missense				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133	6872	6872		Chromatin-modifying enzymes / K-acetyltransferases	11535	protein-coding gene	gene with protein product		313650	TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD, dystonia 3 (with Parkinsonism)	TAF2A, BA2R, CCG1, CCGS, DYT3	NA	3556424, 12928496, 17952504	Standard	NM_004606	XM_005262295	NA	Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4273A>G	X.37:g.70627893A>G	ENSP00000362895:p.Met1425Val	NA	A5CVD0|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	17.06	3.293716	0.60086	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	4.17	2.92	0.33932	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	M	0.89715	3.055	0.58432	D	0.99999	P;D;D	0.61080	0.939;0.989;0.964	P;P;P	0.62560	0.708;0.904;0.647	T	0.58934	-0.7548	10	0.72032	D	0.01	.	9.3206	0.37962	0.8382:0.0:0.0:0.1618	.	1425;1425;1446	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	V	1425;1425;1446;131;131;1446	ENSP00000362895:M1425V;ENSP00000389000:M1425V;ENSP00000406549:M1446V;ENSP00000276072:M1446V	ENSP00000276072:M1446V	M	+	1	0	TAF1	70544618	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	8.757000	0.91657	1.535000	0.49220	0.345000	0.21793	ATG	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058995.2		+	ENST00000373790.4	Missense_Mutation	SNP	X : 70627893 - 70627893 G PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	445	38
TBC1D32	221322	broad.mit.edu	37	6	121402015	121402015	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:121402015G>A	ENST00000275159.6	-	33	3798	c.3799C>T	c.(3799-3801)Cga>Tga	p.R1267*	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Nonsense_Mutation_p.R1226*					TBC1 domain family, member 32	NA											NA						TCACTCACTCGAAACCCATGC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	80	81			NA	NA	6		NA											NA				121402015		1870	4117	5987	SO:0001587	stop_gained			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350	221322	221322			21485	protein-coding gene	gene with protein product	broad-minded homolog	615867	chromosome 6 open reading frame 171, chromosome 6 open reading frame 170	C6orf171, C6orf170	NA	20159594, 24285566	Standard	NM_152730	NM_152730	NA	Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000275159.6:c.3799C>T	6.37:g.121402015G>A	ENSP00000275159:p.Arg1267*	NA		37		.	.	.	.	.	.	.	.	.	.	G	40	8.517622	0.98845	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	.	.	.	5.55	5.55	0.83447	.	0.262258	0.35903	N	0.002901	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8591	0.92265	0.0:0.0:1.0:0.0	.	.	.	.	X	1267;1226	.	ENSP00000275159:R1267X	R	-	1	2	C6orf170	121443714	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.237000	0.65360	2.761000	0.94854	0.650000	0.86243	CGA	TBC1D32-003	PUTATIVE	non_canonical_conserved|basic	protein_coding	NA	protein_coding	OTTHUMT00000042017.3		-	ENST00000275159.6	Nonsense_Mutation	SNP	6 : 121402015 - 121402015 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	405	43
TGFBR2	7048	broad.mit.edu	37	3	30686373	30686373	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:30686373T>A	ENST00000295754.5	+	2	611	c.229T>A	c.(229-231)Tgt>Agt	p.C77S	TGFBR2_ENST00000359013.4_Missense_Mutation_p.C102S	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	77					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CACCTCCATCTGTGAGAAGCC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	60	62			NA	NA	3		NA											NA				30686373		2203	4300	6503	SO:0001583	missense				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513	7048	7048			11773	protein-coding gene	gene with protein product		190182	transforming growth factor, beta receptor II (70-80kD)	MFS2	NA	1319842, 15235604	Standard		NM_001024847	NA	Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.229T>A	3.37:g.30686373T>A	ENSP00000295754:p.Cys77Ser	NA	B4DTV5|Q15580|Q6DKT6|Q99474	37	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.530383	0.85706	.	.	ENSG00000163513	ENST00000295754;ENST00000359013	D;D	0.89123	-2.47;-2.47	5.66	5.66	0.87406	Transforming growth factor beta receptor 2 ectodomain (1);	0.000000	0.85682	D	0.000000	D	0.93953	0.8064	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.97110	1.0;1.0	D	0.94419	0.7639	10	0.66056	D	0.02	.	14.8777	0.70507	0.0:0.0:0.0:1.0	.	77;102	P37173;D2JYI1	TGFR2_HUMAN;.	S	77;102	ENSP00000295754:C77S;ENSP00000351905:C102S	ENSP00000295754:C77S	C	+	1	0	TGFBR2	30661377	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.321000	0.72881	2.147000	0.66899	0.533000	0.62120	TGT	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252994.2		+	ENST00000295754.5	Missense_Mutation	SNP	3 : 30686373 - 30686373 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	240	15
THEMIS	387357	broad.mit.edu	37	6	128134640	128134640	+	Silent	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:128134640G>A	ENST00000368250.1	-	5	1407	c.909C>T	c.(907-909)tcC>tcT	p.S303S	THEMIS_ENST00000537166.1_Silent_p.S347S|THEMIS_ENST00000543064.1_Silent_p.S382S|THEMIS_ENST00000368248.2_Silent_p.S382S			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	382	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CAACAGATACGGATGACAGCT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	96	95			NA	NA	6		NA											NA				128134640		2203	4300	6503	SO:0001819	synonymous_variant			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673	387357	387357			21569	protein-coding gene	gene with protein product	thymocyte expressed molecule involved in selection	613607	chromosome 6 open reading frame 207, chromosome 6 open reading frame 190, thymocyte selection pathway associated	C6orf207, C6orf190, TSEPA	NA	19597499, 19597498, 19597497	Standard	NM_001010923	NM_001010923	NA	Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368250.1:c.909C>T	6.37:g.128134640G>A		NA	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|Q5T3C4|Q5T3C5|Q6MZT7	37																																																																																				THEMIS-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000042156.1		-	ENST00000368250.1	Silent	SNP	6 : 128134640 - 128134640 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	393	41
TLN1	7094	broad.mit.edu	37	9	35699041	35699041	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:35699041C>T	ENST00000314888.9	-	52	7340	c.6987G>A	c.(6985-6987)cgG>cgA	p.R2329R	TLN1_ENST00000540444.1_Silent_p.R2217R	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2329	I/LWEQ.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGGTTTGGCCCGGGGCTTCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	82	85			NA	NA	9		NA											NA				35699041		2203	4299	6502	SO:0001819	synonymous_variant			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076	7094	7094			11845	protein-coding gene	gene with protein product		186745		TLN	NA	7635475, 10610730	Standard	NM_006289	NM_006289	NA	Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6987G>A	9.37:g.35699041C>T		NA	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	37	CCDS35009.1																																																																																			TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052353.2		-	ENST00000314888.9	Silent	SNP	9 : 35699041 - 35699041 T PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	305	30
TPO	7173	broad.mit.edu	37	2	1497799	1497799	+	Missense_Mutation	SNP	G	G	A	rs140124953		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:1497799G>A	ENST00000345913.4	+	11	2085	c.1994G>A	c.(1993-1995)cGg>cAg	p.R665Q	TPO_ENST00000346956.3_Missense_Mutation_p.R665Q|TPO_ENST00000382201.3_Missense_Mutation_p.R608Q|TPO_ENST00000337415.3_Missense_Mutation_p.R665Q|TPO_ENST00000329066.4_Missense_Mutation_p.R665Q|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.R492Q|TPO_ENST00000382198.1_Missense_Mutation_p.R492Q	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	665			R -> W (in TDH2A; fails to localize to the plasma membrane).		cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AAGGCTCTGCGGGACGGTGAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM035088	TPO	M	rs140124953	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	89	85	86		1994,1994,1823,1823,1994,1475	4.8	1	2	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	43,43,43,43,43,43	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	665/934,665/934,608/877,608/877,665/890,492/761	1497799	1,13005	2203	4300	6503	SO:0001583	missense				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	7173	7173	1.11.1.7		12015	protein-coding gene	gene with protein product		606765			NA		Standard	NM_000547	NM_175722	NA	Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1994G>A	2.37:g.1497799G>A	ENSP00000318820:p.Arg665Gln	NA	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	37	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.152346|4.152346	0.78001|0.78001	0.0|0.0	1.16E-4|1.16E-4	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	.|T;T;T;T;T;T;T;T;T	.|0.72282	.|-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85643|0.85643	0.5744|0.5744	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.999;0.999;1.0	D|D	0.88101|0.88101	0.2819|0.2819	5|10	.|0.87932	.|D	.|0	-34.9581|-34.9581	18.3104|18.3104	0.90197|0.90197	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|665;492;608;665	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	R|Q	140|665;665;665;492;665;608;492;594;139	.|ENSP00000337263:R665Q;ENSP00000318820:R665Q;ENSP00000263886:R665Q;ENSP00000332044:R492Q;ENSP00000329869:R665Q;ENSP00000371636:R608Q;ENSP00000371633:R492Q;ENSP00000405788:R594Q;ENSP00000419461:R139Q	.|ENSP00000329869:R665Q	G|R	+|+	1|2	0|0	TPO|TPO	1476806|1476806	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.175000|0.175000	0.22909|0.22909	7.143000|7.143000	0.77348|0.77348	2.399000|2.399000	0.81585|0.81585	0.561000|0.561000	0.74099|0.74099	GGG|CGG	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206594.2		+	ENST00000345913.4	Missense_Mutation	SNP	2 : 1497799 - 1497799 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	267	24
TRIM26	7726	broad.mit.edu	37	6	30166741	30166741	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:30166741G>A	ENST00000454678.2	-	4	576	c.140C>T	c.(139-141)tCa>tTa	p.S47L	TRIM26_ENST00000487829.1_5'UTR|TRIM26_ENST00000437089.1_Missense_Mutation_p.S47L|TRIM26_ENST00000453195.1_Missense_Mutation_p.S47L	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	47							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						GCGGCTCCCTGAGATGGGGCG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	45	46			NA	NA	6		NA											NA				30166741		1509	2709	4218	SO:0001583	missense			AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127	7726	7726		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	12962	protein-coding gene	gene with protein product		600830	tripartite motif-containing 26	ZNF173	NA	8530076	Standard	NM_003449	NM_003449	NA	Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.140C>T	6.37:g.30166741G>A	ENSP00000410446:p.Ser47Leu	NA		37	CCDS4678.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790254	0.31685	.	.	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089;ENST00000416596;ENST00000420345;ENST00000418026;ENST00000434785	T;T;T;T;T;T	0.08458	3.09;3.09;3.09;3.09;3.09;3.09	5.59	3.8	0.43715	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.676716	0.12973	N	0.423994	T	0.02929	0.0087	L	0.33485	1.01	0.09310	N	1	P	0.50369	0.934	P	0.47864	0.559	T	0.38457	-0.9660	10	0.21540	T	0.41	.	5.4594	0.16607	0.1742:0.1654:0.6604:0.0	.	47	Q12899	TRI26_HUMAN	L	47	ENSP00000391879:S47L;ENSP00000410446:S47L;ENSP00000395491:S47L;ENSP00000413673:S47L;ENSP00000387530:S47L;ENSP00000400920:S47L	ENSP00000413673:S47L	S	-	2	0	TRIM26	30274720	0.007000	0.16637	0.015000	0.15790	0.052000	0.14988	1.758000	0.38410	1.363000	0.46019	-0.163000	0.13421	TCA	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253442.1		-	ENST00000454678.2	Missense_Mutation	SNP	6 : 30166741 - 30166741 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	257	30
TXNDC15	79770	broad.mit.edu	37	5	134232006	134232006	+	Missense_Mutation	SNP	G	G	A	rs139088311		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:134232006G>A	ENST00000358387.4	+	4	1403	c.778G>A	c.(778-780)Gta>Ata	p.V260I	TXNDC15_ENST00000546290.1_Missense_Mutation_p.V237I	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	260	Thioredoxin.				cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTGGCACCGTAGCTGTTCC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	98	100	99		778	6.2	0.9	5	dbSNP_134	99	0,8600		0,0,4300	no	missense	TXNDC15	NM_024715.3	29	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	260/361	134232006	1,13005	2203	4300	6503	SO:0001583	missense			AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621	79770	79770			20652	protein-coding gene	gene with protein product			chromosome 5 open reading frame 14	C5orf14	NA		Standard	NM_024715	NM_024715	NA	Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.778G>A	5.37:g.134232006G>A	ENSP00000351157:p.Val260Ile	NA	D3DQA9|Q96MT2|Q9H639	37	CCDS4180.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.437679|5.437679	0.96168|0.96168	2.27E-4|2.27E-4	0.0|0.0	ENSG00000113621|ENSG00000113621	ENST00000509954|ENST00000441965;ENST00000358387;ENST00000546290	.|T;T	.|0.03301	.|3.98;3.98	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Thioredoxin domain (1);Thioredoxin-like fold (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.14442|0.14442	0.0349|0.0349	L|L	0.41415|0.41415	1.275|1.275	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.00137|0.00137	-1.2004|-1.2004	5|10	.|0.54805	.|T	.|0.06	2.2193|2.2193	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|260	.|Q96J42	.|TXD15_HUMAN	H|I	14|244;260;237	.|ENSP00000351157:V260I;ENSP00000443942:V237I	.|ENSP00000351157:V260I	R|V	+|+	2|1	0|0	TXNDC15|TXNDC15	134259905|134259905	1.000000|1.000000	0.71417|0.71417	0.850000|0.850000	0.33497|0.33497	0.972000|0.972000	0.66771|0.66771	9.476000|9.476000	0.97823|0.97823	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGT|GTA	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251160.1		+	ENST00000358387.4	Missense_Mutation	SNP	5 : 134232006 - 134232006 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	643	47
ZFP91	80829	broad.mit.edu	37	11	58347089	58347089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:58347089G>A	ENST00000316059.6	+	1	506	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R112Q	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	112					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AAGAGTCCGCGACTCCTGTGA	0.672		NA									OREG0020976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	16	16			NA	NA	11		NA											NA				58347089		1775	3610	5385	SO:0001583	missense			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660	80829	80829		Zinc fingers, C2H2-type	14983	protein-coding gene	gene with protein product			zinc finger protein homologous to Zfp91 in mouse, zinc finger protein 91 homolog (mouse)		NA	12738986, 20682767	Standard	NM_053023	NM_053023	NA	Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.335G>A	11.37:g.58347089G>A	ENSP00000339030:p.Arg112Gln	1030	A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	37	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756859	0.49362	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.13901	2.55	3.77	3.77	0.43336	.	.	.	.	.	T	0.07908	0.0198	N	0.19112	0.55	0.41174	D	0.986189	P;P	0.44241	0.829;0.738	B;B	0.33339	0.162;0.078	T	0.24083	-1.0170	9	0.59425	D	0.04	-2.8941	11.4656	0.50237	0.0:0.0:1.0:0.0	.	112;112	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	Q	112	ENSP00000339030:R112Q	ENSP00000374569:R112Q	R	+	2	0	ZFP91	58103665	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	4.412000	0.59787	1.815000	0.52974	0.313000	0.20887	CGA	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268674.1		+	ENST00000316059.6	Missense_Mutation	SNP	11 : 58347089 - 58347089 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	124	15
ZNF292	23036	broad.mit.edu	37	6	87969936	87969936	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:87969936C>A	ENST00000369577.3	+	8	6632	c.6589C>A	c.(6589-6591)Cat>Aat	p.H2197N	ZNF292_ENST00000339907.4_Missense_Mutation_p.H2192N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CATGAAACTTCATGAAATGAC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	195	196			NA	NA	6		NA											NA				87969936		1863	4097	5960	SO:0001583	missense			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994	23036	23036		Zinc fingers, C2H2-type	18410	protein-coding gene	gene with protein product					NA	9628581	Standard	NM_015021	NM_015021	NA	Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6589C>A	6.37:g.87969936C>A	ENSP00000358590:p.His2197Asn	NA	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546126	0.86022	.	.	ENSG00000188994	ENST00000369577;ENST00000339907;ENST00000496806	T;T;T	0.63744	-0.06;-0.06;-0.06	5.42	5.42	0.78866	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.82061	0.4955	M	0.92268	3.29	0.54753	D	0.99998	D	0.69078	0.997	D	0.73380	0.98	D	0.85022	0.0912	10	0.52906	T	0.07	.	19.21	0.93749	0.0:1.0:0.0:0.0	.	2197	O60281	ZN292_HUMAN	N	2197;2192;115	ENSP00000358590:H2197N;ENSP00000342847:H2192N;ENSP00000428857:H115N	ENSP00000342847:H2192N	H	+	1	0	ZNF292	88026655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.541000	0.85698	0.591000	0.81541	CAT	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376192.2		+	ENST00000369577.3	Missense_Mutation	SNP	6 : 87969936 - 87969936 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	919	62
ZSWIM3	140831	broad.mit.edu	37	20	44506266	44506266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:44506266G>A	ENST00000255152.2	+	2	1278	c.1069G>A	c.(1069-1071)Gta>Ata	p.V357I	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.V351I	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	357							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GTCCCAGGCCGTACTGGATGA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	70	71			NA	NA	20		NA											NA				44506266		2203	4300	6503	SO:0001583	missense			AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801	140831	140831		Zinc fingers, SWIM-type	16157	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 174		chromosome 20 open reading frame 164	C20orf164	NA		Standard	NM_080752	NM_080752	NA	Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1069G>A	20.37:g.44506266G>A	ENSP00000255152:p.Val357Ile	NA	Q9BR13	37	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	g	3.393	-0.123988	0.06795	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.21734	2.01;1.99	5.65	2.64	0.31445	.	0.413487	0.22779	N	0.055752	T	0.09555	0.0235	N	0.14661	0.345	0.09310	N	1	B;B	0.24882	0.048;0.113	B;B	0.13407	0.006;0.009	T	0.33854	-0.9852	10	0.16896	T	0.51	-3.9801	6.6767	0.23098	0.12:0.4609:0.3521:0.067	.	351;357	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	I	357;351	ENSP00000255152:V357I;ENSP00000406313:V351I	ENSP00000255152:V357I	V	+	1	0	ZSWIM3	43939673	0.000000	0.05858	0.265000	0.24526	0.985000	0.73830	-0.175000	0.09825	0.464000	0.27142	-0.123000	0.14984	GTA	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079540.1		+	ENST00000255152.2	Missense_Mutation	SNP	20 : 44506266 - 44506266 A PAAD-TCGA-IB-7885-Tumor-SM-2NW7K	380	20
