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
ANKH	56172	broad.mit.edu	37	5	14756009	14756009	+	Silent	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:14756009G>A	ENST00000284268.6	-	4	807	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	159					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ATCCCACCAGGAAACTGTATT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	134	141			NA	NA	5		NA											NA				14756009		2203	4300	6503	SO:0001819	synonymous_variant			AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122	56172	56172			15492	protein-coding gene	gene with protein product		605145	ankylosis, progressive (mouse) homolog, craniometaphyseal dysplasia, Jackson type (dominant), ankylosis, progressive homolog (mouse)	CCAL2, CMDJ	NA	10894769, 12297989, 11326338	Standard	NM_054027	NM_054027	NA	Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.477C>T	5.37:g.14756009G>A		NA	B2RCA7|D3DTD4|Q9NQW2	37	CCDS3885.1																																																																																			ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207063.1		-	ENST00000284268.6	Silent	SNP	5 : 14756009 - 14756009 A PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	363	61
APOBEC3B	9582	broad.mit.edu	37	22	39382043	39382043	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr22:39382043C>T	ENST00000407298.3	+	3	508	c.401C>T	c.(400-402)gCg>gTg	p.A134V	APOBEC3B_ENST00000402182.3_Missense_Mutation_p.A134V|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.A134V			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	134					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TACCGAAGGGCGCTCTGCAGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	53	52			NA	NA	22		NA											NA				39382043		2200	4289	6489	SO:0001583	missense			AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750	9582	9582		Apolipoprotein B mRNA editing enzymes	17352	protein-coding gene	gene with protein product	phorbolin 3	607110			NA	11863358, 10469298	Standard	NM_004900	NM_004900	NA	Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000407298.3:c.401C>T	22.37:g.39382043C>T	ENSP00000385068:p.Ala134Val	NA	O95618|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	37	CCDS58807.1	.	.	.	.	.	.	.	.	.	.	.	13.82	2.350943	0.41599	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.67698	-0.28;-0.28;-0.28	2.12	-1.53	0.08611	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.66528	0.2798	M	0.64997	1.995	0.09310	N	1	P;D	0.61697	0.92;0.99	B;P	0.53649	0.375;0.731	T	0.57171	-0.7857	9	0.56958	D	0.05	.	3.7999	0.08754	0.3031:0.2104:0.4865:0.0	.	134;134	B0QYD2;Q9UH17	.;ABC3B_HUMAN	V	134	ENSP00000385068:A134V;ENSP00000385060:A134V;ENSP00000327459:A134V	ENSP00000327459:A134V	A	+	2	0	APOBEC3B	37711989	1.000000	0.71417	0.002000	0.10522	0.013000	0.08279	2.701000	0.47094	-0.292000	0.08999	0.194000	0.17425	GCG	APOBEC3B-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321235.1		+	ENST00000407298.3	Missense_Mutation	SNP	22 : 39382043 - 39382043 T PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	643	68
AQR	9716	broad.mit.edu	37	15	35168180	35168180	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr15:35168180C>A	ENST00000156471.5	-	28	3418	c.3193G>T	c.(3193-3195)Gct>Tct	p.A1065S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1065						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGAATCTGAGCAGCCTCTTCC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	90	91			NA	NA	15		NA											NA				35168180		1825	4078	5903	SO:0001583	missense			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776	9716	9716			29513	protein-coding gene	gene with protein product	functional spliceosome-associated protein 164	610548	aquarius homolog (mouse)		NA	9626505, 16949364	Standard	NM_014691	NM_014691	NA	Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3193G>T	15.37:g.35168180C>A	ENSP00000156471:p.Ala1065Ser	NA	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507263	0.85282	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	T	0.80123	-1.34	5.03	4.1	0.47936	.	0.047169	0.85682	N	0.000000	D	0.87865	0.6285	M	0.66439	2.03	0.58432	D	0.999994	D	0.76494	0.999	D	0.77004	0.989	D	0.88104	0.2821	10	0.52906	T	0.07	-15.6622	14.693	0.69101	0.1464:0.8536:0.0:0.0	.	1065	O60306	AQR_HUMAN	S	1065	ENSP00000156471:A1065S	ENSP00000156471:A1065S	A	-	1	0	AQR	32955472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	1.075000	0.40932	0.650000	0.86243	GCT	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417526.2		-	ENST00000156471.5	Missense_Mutation	SNP	15 : 35168180 - 35168180 A PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	492	55
ATG9B	285973	broad.mit.edu	37	7	150716447	150716447	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:150716447C>T	ENST00000494791.1	-	0	1053				ATG9B_ENST00000377974.2_Silent_p.S326S|ATG9B_ENST00000444312.1_Intron|ATG9B_ENST00000605938.1_Silent_p.S326S			Q674R7	ATG9B_HUMAN	autophagy related 9B	NA					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCAGGGAACCGAGCTCAGCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	18	18			NA	NA	7		NA											NA				150716447		2035	4176	6211	SO:0001623	5_prime_UTR_variant			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652	285973	285973			21899	protein-coding gene	gene with protein product		612205	nitric oxide synthase 3 antisense, ATG9 autophagy related 9 homolog B (S. cerevisiae)	NOS3AS	NA	15234981, 15755735	Standard	NM_173681	NM_173681	NA	Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000494791.1:c.-3518G>A	7.37:g.150716447C>T		NA	A1A5D3|Q6JRW5|Q8N8I8	37																																																																																				ATG9B-001	KNOWN	non_canonical_U12|basic	processed_transcript	NA	protein_coding	OTTHUMT00000351543.2		-	ENST00000494791.1	5'UTR	SNP	7 : 150716447 - 150716447 T PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	133	14
ATP6V0A4	50617	broad.mit.edu	37	7	138447711	138447711	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:138447711C>G	ENST00000310018.2	-	6	633	c.351G>C	c.(349-351)ttG>ttC	p.L117F	ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.L117F|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.L117F	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	117					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.L117F(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGCTTTGTTTCAAGGCCTGCT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											192	174	180			NA	NA	7		NA											NA				138447711		2203	4300	6503	SO:0001583	missense			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929	50617	50617		ATPases / V-type	866	protein-coding gene	gene with protein product		605239	ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B, ATPase, H+ transporting, lysosomal V0 subunit a isoform 4, ATPase, H+ transporting, lysosomal V0 subunit A4	ATP6N1B, ATP6N2, RTA1C	NA	10577919, 10973252	Standard	NM_020632	XM_005250393	NA	Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.351G>C	7.37:g.138447711C>G	ENSP00000308122:p.Leu117Phe	NA	A8KA80	37	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124827	0.77436	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.91996	-2.95;-2.95;-2.95	5.21	3.41	0.39046	.	0.154984	0.36444	N	0.002582	D	0.96241	0.8774	M	0.92555	3.32	0.58432	D	0.99999	D	0.63880	0.993	D	0.65773	0.938	D	0.96063	0.9040	10	0.72032	D	0.01	-26.1136	11.3732	0.49713	0.0:0.8512:0.0:0.1488	.	117	Q9HBG4	VPP4_HUMAN	F	117	ENSP00000308122:L117F;ENSP00000376774:L117F;ENSP00000253856:L117F	ENSP00000308122:L117F	L	-	3	2	ATP6V0A4	138098251	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.985000	0.40668	0.865000	0.35603	0.655000	0.94253	TTG	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347514.1		-	ENST00000310018.2	Missense_Mutation	SNP	7 : 138447711 - 138447711 G PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	659	101
BHLHB9	80823	broad.mit.edu	37	X	102004384	102004384	+	Missense_Mutation	SNP	C	C	T	rs141213425	byFrequency	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:102004384C>T	ENST00000372735.1	+	4	1046	c.461C>T	c.(460-462)gCg>gTg	p.A154V	BHLHB9_ENST00000457056.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A154V			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	154						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTGGAACCTGCGGCTGGGGCC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,3834		0,1,0,1631,571	77	82	80		461,461,461,461,461,461,461,461	-3.8	0	X	dbSNP_134	80	7,6721		0,4,3,2424,1869	yes	missense,missense,missense,missense,missense,missense,missense,missense	BHLHB9	NM_001142524.1,NM_001142525.1,NM_001142526.1,NM_001142527.1,NM_001142528.1,NM_001142529.1,NM_001142530.1,NM_030639.2	64,64,64,64,64,64,64,64	0,5,3,4055,2440	TT,TC,T,CC,C	NA	0.104,0.0261,0.0757	benign,benign,benign,benign,benign,benign,benign,benign	154/548,154/548,154/548,154/548,154/548,154/548,154/548,154/548	102004384	8,10555	2203	4300	6503	SO:0001583	missense			AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908	80823	80823		Basic helix-loop-helix proteins, Armadillo repeat containing	29353	protein-coding gene	gene with protein product		300921			NA	11214970, 15034937, 16221301	Standard	NM_030639	NM_030639	NA	Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.461C>T	X.37:g.102004384C>T	ENSP00000361820:p.Ala154Val	NA	Q9C0G2	37	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.284174	0.01398	2.61E-4	0.00104	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	4.28	-3.82	0.04281	.	1.511530	0.04870	N	0.445679	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41556	-0.9502	9	.	.	.	-24.6357	6.258	0.20884	0.163:0.5429:0.0:0.2941	.	154	Q6PI77	BHLH9_HUMAN	V	154	ENSP00000403226:A154V;ENSP00000354675:A154V;ENSP00000405893:A154V;ENSP00000391722:A154V;ENSP00000361820:A154V	.	A	+	2	0	BHLHB9	101891040	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.898000	0.04105	-0.959000	0.03618	-0.395000	0.06472	GCG	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057630.1		+	ENST00000372735.1	Missense_Mutation	SNP	X : 102004384 - 102004384 T PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	822	132
BPIFB2	80341	broad.mit.edu	37	20	31604852	31604852	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr20:31604852G>T	ENST00000170150.3	+	7	716	c.521G>T	c.(520-522)tGc>tTc	p.C174F		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	174						extracellular region	lipid binding				NA						CCACAGCTGTGCCTGAGCATC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	120	120			NA	NA	20		NA											NA				31604852		2203	4300	6503	SO:0001583	missense			AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898	80341	80341		BPI fold containing	16177	protein-coding gene	gene with protein product		614108	bactericidal/permeability-increasing protein-like 1	C20orf184, BPIL1	NA	12185532, 21787333	Standard	NM_025227	NM_025227	NA	Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.521G>T	20.37:g.31604852G>T	ENSP00000170150:p.Cys174Phe	NA	Q6UWN3|Q8NFQ7	37	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558695	0.27827	.	.	ENSG00000078898	ENST00000170150	T	0.34275	1.37	4.07	3.13	0.36017	.	0.000000	0.64402	D	0.000019	T	0.45094	0.1325	L	0.36672	1.1	0.42278	D	0.992083	D	0.89917	1.0	D	0.91635	0.999	T	0.42899	-0.9424	10	0.87932	D	0	-15.0743	7.8228	0.29296	0.1119:0.0:0.8881:0.0	.	174	Q8N4F0	BPIB2_HUMAN	F	174	ENSP00000170150:C174F	ENSP00000170150:C174F	C	+	2	0	BPIFB2	31068513	0.998000	0.40836	0.947000	0.38551	0.133000	0.20885	2.864000	0.48404	1.314000	0.45095	0.561000	0.74099	TGC	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078652.2		+	ENST00000170150.3	Missense_Mutation	SNP	20 : 31604852 - 31604852 T PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	1017	171
CCNF	899	broad.mit.edu	37	16	2495532	2495532	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr16:2495532G>T	ENST00000397066.4	+	10	1091	c.1003G>T	c.(1003-1005)Gtg>Ttg	p.V335L		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	335	Cyclin N-terminal.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GCACCTGACCGTGGAGTGTGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	74	85			NA	NA	16		NA											NA				2495532		2198	4300	6498	SO:0001583	missense			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063	899	899		F-boxes /  other	1591	protein-coding gene	gene with protein product		600227			NA	7896286	Standard	NM_001761	NM_001761	NA	Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1003G>T	16.37:g.2495532G>T	ENSP00000380256:p.Val335Leu	NA	B2R8H3|Q96EG9	37	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638473	0.87760	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.15718	2.4	5.5	5.5	0.81552	Cyclin, N-terminal (2);Cyclin-like (3);	0.056215	0.64402	D	0.000001	T	0.48295	0.1492	M	0.87827	2.91	0.58432	D	0.999998	D	0.71674	0.998	D	0.67548	0.952	T	0.55490	-0.8133	10	0.87932	D	0	-26.3978	17.9615	0.89086	0.0:0.0:1.0:0.0	.	335	P41002	CCNF_HUMAN	L	335;250	ENSP00000380256:V335L	ENSP00000293968:V250L	V	+	1	0	CCNF	2435533	1.000000	0.71417	0.961000	0.40146	0.953000	0.61014	7.645000	0.83430	2.586000	0.87340	0.557000	0.71058	GTG	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250801.1		+	ENST00000397066.4	Missense_Mutation	SNP	16 : 2495532 - 2495532 T PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	413	53
CDK20	23552	broad.mit.edu	37	9	90584165	90584165	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr9:90584165C>A	ENST00000375883.3	-	6	1030	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	CDK20_ENST00000336654.5_Missense_Mutation_p.D255Y|CDK20_ENST00000325303.8_Missense_Mutation_p.D263Y|CDK20_ENST00000375871.4_Missense_Mutation_p.W200C|CDK20_ENST00000605159.1_Missense_Mutation_p.D242Y	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	263	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						CCCAGCAGATCCAATGCCTGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													206	185	192			NA	NA	9		NA											NA				90584165		2203	4300	6503	SO:0001583	missense			AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345	23552	23552		Cyclin-dependent kinases	21420	protein-coding gene	gene with protein product		610076	cell cycle related kinase	CCRK	NA	19884882	Standard	NM_012119	NM_178432	NA	Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000375883.3:c.724G>T	9.37:g.90584165C>A	ENSP00000365043:p.Asp242Tyr	NA	A2A389|B4DQX1|Q5EDC4|Q5VYW1|Q9BUF4	37	CCDS6677.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.29|12.29	1.893182|1.893182	0.33442|0.33442	.|.	.|.	ENSG00000156345|ENSG00000156345	ENST00000375883;ENST00000336654;ENST00000325303;ENST00000286878|ENST00000375871	T;T;T|T	0.55413|0.63744	0.52;0.52;0.52|-0.06	4.64|4.64	3.67|3.67	0.42095|0.42095	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.370436|.	0.29522|.	N|.	0.011907|.	T|T	0.51601|0.51601	0.1684|0.1684	.|.	.|.	.|.	0.37885|0.37885	D|D	0.930512|0.930512	P;D;P|B	0.59357|0.09022	0.856;0.985;0.774|0.002	P;D;P|B	0.66979|0.10450	0.646;0.948;0.832|0.005	T|T	0.58183|0.58183	-0.7681|-0.7681	9|8	0.87932|0.72032	D|D	0|0.01	-26.4582|-26.4582	9.746|9.746	0.40446|0.40446	0.0:0.7261:0.2739:0.0|0.0:0.7261:0.2739:0.0	.|.	255;242;263|200	A2A390;E7EQ88;Q8IZL9|Q8IZL9-2	.;.;CDK20_HUMAN|.	Y|C	242;255;263;242|200	ENSP00000365043:D242Y;ENSP00000338975:D255Y;ENSP00000322343:D263Y|ENSP00000365031:W200C	ENSP00000286878:D242Y|ENSP00000365031:W200C	D|W	-|-	1|3	0|0	CDK20|CDK20	89773985|89773985	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.112000|0.112000	0.19704|0.19704	1.072000|1.072000	0.30678|0.30678	2.296000|2.296000	0.77279|0.77279	0.655000|0.655000	0.94253|0.94253	GAT|TGG	CDK20-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052958.1		-	ENST00000375883.3	Missense_Mutation	SNP	9 : 90584165 - 90584165 A PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	1085	153
CPXM2	119587	broad.mit.edu	37	10	125506294	125506294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr10:125506294G>A	ENST00000241305.3	-	14	2411	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	753					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCACGCTGTCGTCTCTTCTGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	55	54			NA	NA	10		NA											NA				125506294		2203	4300	6503	SO:0001587	stop_gained			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898	119587	119587			26977	protein-coding gene	gene with protein product	cytosolic carboxypeptidase				NA	12975309	Standard	NM_198148	NM_198148	NA	Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2257C>T	10.37:g.125506294G>A	ENSP00000241305:p.Arg753*	NA		37	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	39	7.799577	0.98495	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	.	.	.	5.62	4.71	0.59529	.	0.133527	0.46145	D	0.000305	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0889	13.5288	0.61611	0.0:0.0:0.7185:0.2815	.	.	.	.	X	753;586;728	.	ENSP00000241305:R753X	R	-	1	2	CPXM2	125496284	1.000000	0.71417	0.543000	0.28128	0.885000	0.51271	3.065000	0.49994	1.347000	0.45714	0.655000	0.94253	CGA	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050853.1		-	ENST00000241305.3	Nonsense_Mutation	SNP	10 : 125506294 - 125506294 A PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	602	82
CSMD2	114784	broad.mit.edu	37	1	34158555	34158555	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:34158555C>T	ENST00000373380.1	-	4	866	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.E1343K			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1303	CUB 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCTCTGCTTCGATGGTCCAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	152	155			NA	NA	1		NA											NA				34158555		2203	4300	6503	SO:0001583	missense			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904	114784	114784			19290	protein-coding gene	gene with protein product		608398			NA	11472063, 11572484	Standard	NM_052896	NM_001281956	NA	Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.646G>A	1.37:g.34158555C>T	ENSP00000362478:p.Glu216Lys	NA	B1AM50|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	37		.	.	.	.	.	.	.	.	.	.	C	36	5.880781	0.97062	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.17854	2.25;2.25	5.52	5.52	0.82312	CUB (5);	0.000000	0.85682	D	0.000000	T	0.36166	0.0957	L	0.45744	1.44	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.993	P;D;D	0.67900	0.87;0.954;0.921	T	0.02075	-1.1218	10	0.56958	D	0.05	.	18.4386	0.90656	0.0:1.0:0.0:0.0	.	216;1303;1343	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	K	1343;216	ENSP00000362479:E1343K;ENSP00000362478:E216K	ENSP00000241312:E1303K	E	-	1	0	CSMD2	33931142	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.747000	0.85070	2.597000	0.87782	0.655000	0.94253	GAA	CSMD2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000030635.4		-	ENST00000373380.1	Missense_Mutation	SNP	1 : 34158555 - 34158555 T PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	1000	152
CSTF2	1478	broad.mit.edu	37	X	100078981	100078981	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:100078981C>T	ENST00000372972.2	+	5	567	c.551C>T	c.(550-552)cCg>cTg	p.P184L	CSTF2_ENST00000415585.2_Missense_Mutation_p.P184L	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	184	Interactions with CSTF3 and SYMPK.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						ATTGTGGATCCGGAAATTGCC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	155	164			NA	NA	X		NA											NA				100078981		2203	4300	6503	SO:0001583	missense			BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811	1478	1478		RNA binding motif (RRM) containing	2484	protein-coding gene	gene with protein product		300907	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD		NA	1741396	Standard	NM_001325	XM_006724622	NA	Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.551C>T	X.37:g.100078981C>T	ENSP00000362063:p.Pro184Leu	NA	Q5H951|Q6LA74|Q8N502	37	CCDS14473.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441413	0.83993	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320;ENST00000413437	T;T;T	0.18810	2.27;2.22;2.19	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	M	0.92555	3.32	0.80722	D	1	D;P;P	0.71674	0.998;0.723;0.941	D;B;P	0.65323	0.934;0.206;0.603	T	0.69124	-0.5228	10	0.72032	D	0.01	-6.4506	18.0432	0.89324	0.0:1.0:0.0:0.0	.	184;184;184	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	L	184;184;184;175	ENSP00000387996:P184L;ENSP00000362063:P184L;ENSP00000415705:P175L	ENSP00000362063:P184L	P	+	2	0	CSTF2	99965637	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.237000	0.78164	2.196000	0.70406	0.600000	0.82982	CCG	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058926.1		+	ENST00000372972.2	Missense_Mutation	SNP	X : 100078981 - 100078981 T PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	785	95
CYP27A1	1593	broad.mit.edu	37	2	219678840	219678840	+	Missense_Mutation	SNP	G	G	C			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:219678840G>C	ENST00000258415.4	+	6	1541	c.1114G>C	c.(1114-1116)Ggg>Cgg	p.G372R		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	372					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	GGTGCCAGCCGGGCAAGTGCC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	69	73			NA	NA	2		NA											NA				219678840		2203	4300	6503	SO:0001583	missense			BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929	1593	1593		Cytochrome P450s	2605	protein-coding gene	gene with protein product	cerebrotendinous xanthomatosis	606530	cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1	CYP27	NA	2019602	Standard		NM_000784	NA	Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1114G>C	2.37:g.219678840G>C	ENSP00000258415:p.Gly372Arg	NA	A8K303|Q6LDB4|Q86YQ6	37	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905864	0.52333	.	.	ENSG00000135929	ENST00000258415	T	0.70282	-0.47	5.76	5.76	0.90799	.	0.048229	0.85682	D	0.000000	T	0.65831	0.2729	L	0.57130	1.785	0.43982	D	0.996674	P	0.38167	0.621	B	0.38755	0.281	T	0.65117	-0.6246	10	0.36615	T	0.2	-35.6709	9.8121	0.40828	0.0748:0.1409:0.7843:0.0	.	372	Q02318	CP27A_HUMAN	R	372	ENSP00000258415:G372R	ENSP00000258415:G372R	G	+	1	0	CYP27A1	219387084	1.000000	0.71417	0.963000	0.40424	0.965000	0.64279	4.040000	0.57333	2.706000	0.92434	0.655000	0.94253	GGG	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109734.4		+	ENST00000258415.4	Missense_Mutation	SNP	2 : 219678840 - 219678840 C PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	380	45
DDX60L	91351	broad.mit.edu	37	4	169374381	169374381	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:169374381C>T	ENST00000511577.1	-	8	1137	c.890G>A	c.(889-891)cGt>cAt	p.R297H	DDX60L_ENST00000260184.7_Missense_Mutation_p.R297H|DDX60L_ENST00000505890.1_Missense_Mutation_p.R297H			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	297							ATP binding|ATP-dependent helicase activity|RNA binding	p.R297L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACAGAGGCAACGCAGTCTGCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											88	92	90			NA	NA	4		NA											NA				169374381		2003	4176	6179	SO:0001583	missense			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381	91351	91351			26429	protein-coding gene	gene with protein product					NA		Standard	NM_001012967	XM_005263341	NA	Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.890G>A	4.37:g.169374381C>T	ENSP00000422423:p.Arg297His	NA	Q96ND6	37		.	.	.	.	.	.	.	.	.	.	C	2.777	-0.254392	0.05829	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.15718	2.4;2.4;2.4;3.06	3.3	-1.09	0.09904	.	0.782659	0.10119	N	0.713632	T	0.04452	0.0122	N	0.01009	-1.055	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.44360	-0.9333	10	0.14656	T	0.56	.	6.5863	0.22622	0.0:0.3112:0.0:0.6888	.	297;297;297	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	H	297;297;297;25	ENSP00000260184:R297H;ENSP00000422423:R297H;ENSP00000422202:R297H;ENSP00000421026:R25H	ENSP00000260184:R297H	R	-	2	0	DDX60L	169610956	0.015000	0.18098	0.001000	0.08648	0.759000	0.43091	0.485000	0.22324	-0.458000	0.07023	-0.444000	0.05651	CGT	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000364839.1		-	ENST00000511577.1	Missense_Mutation	SNP	4 : 169374381 - 169374381 T PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	311	38
DHDH	27294	broad.mit.edu	37	19	49447742	49447742	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:49447742C>T	ENST00000522614.1	+	5	636				DHDH_ENST00000523250.1_Silent_p.H152H|DHDH_ENST00000221403.2_Silent_p.H291H			Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	NA					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		AGGCCAAGCACGTCTGGGAGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	71	68	69		873	-5.1	0.7	19		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DHDH	NM_014475.3		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		291/335	49447742	1,13005	2203	4300	6503	SO:0001627	intron_variant			AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	27294	27294	1.3.1.20		17887	protein-coding gene	gene with protein product		606377			NA	10477285	Standard	NM_014475	NM_014475	NA	Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000522614.1:c.620-339C>T	19.37:g.49447742C>T		NA		37																																																																																				DHDH-004	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000381480.1		+	ENST00000522614.1	Intron	SNP	19 : 49447742 - 49447742 T PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	490	75
DLGAP2	9228	broad.mit.edu	37	8	1626541	1626541	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr8:1626541C>T	ENST00000421627.2	+	9	2344	c.2210C>T	c.(2209-2211)gCg>gTg	p.A737V	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	816					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CAGTACAGCGCGGTGAGAACT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	54	51			NA	NA	8		NA											NA				1626541		2014	4169	6183	SO:0001583	missense			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010	9228	9228			2906	protein-coding gene	gene with protein product		605438	discs, large (Drosophila) homolog-associated protein 2		NA	9286858, 10854099	Standard	NM_004745	NM_004745	NA	Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2210C>T	8.37:g.1626541C>T	ENSP00000400258:p.Ala737Val	NA	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	37	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.22|13.22	2.172334|2.172334	0.38315|0.38315	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.19938|.	2.11|.	5.32|5.32	4.44|4.44	0.53790|0.53790	.|.	0.094982|.	0.64402|.	N|.	0.000001|.	T|T	0.60157|0.60157	0.2247|0.2247	L|L	0.46614|0.46614	1.455|1.455	0.48696|0.48696	D|D	0.999694|0.999694	P;P|.	0.50943|.	0.94;0.894|.	B;P|.	0.46237|.	0.374;0.508|.	T|T	0.57063|0.57063	-0.7875|-0.7875	10|5	0.02654|.	T|.	1|.	-8.3498|-8.3498	13.6933|13.6933	0.62562|0.62562	0.0:0.9256:0.0:0.0744|0.0:0.9256:0.0:0.0744	.|.	802;816|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	V|W	768;737|740	ENSP00000400258:A737V|.	ENSP00000348366:A768V|.	A|R	+|+	2|1	0|2	DLGAP2|DLGAP2	1613948|1613948	1.000000|1.000000	0.71417|0.71417	0.422000|0.422000	0.26621|0.26621	0.513000|0.513000	0.34164|0.34164	4.501000|4.501000	0.60393|0.60393	1.233000|1.233000	0.43693|0.43693	0.650000|0.650000	0.86243|0.86243	GCG|CGG	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374478.1		+	ENST00000421627.2	Missense_Mutation	SNP	8 : 1626541 - 1626541 T PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	303	39
DNAH9	1770	broad.mit.edu	37	17	11837209	11837209	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:11837209G>A	ENST00000454412.2	+	64	12082	c.12082G>A	c.(12082-12084)Gat>Aat	p.D4028N	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.D416N|DNAH9_ENST00000262442.4_Missense_Mutation_p.D4104N			Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4104	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCCTATGATGATTTGCGCTA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	78	79			NA	NA	17		NA											NA				11837209		2203	4300	6503	SO:0001583	missense			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174	1770	1770		Axonemal dyneins	2953	protein-coding gene	gene with protein product		603330	dynein, axonemal, heavy polypeptide 17-like, dynein, axonemal, heavy polypeptide 9	DNAH17L	NA	8812413, 11247663	Standard	NM_001372	NM_001372	NA	Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000454412.2:c.12082G>A	17.37:g.11837209G>A	ENSP00000414874:p.Asp4028Asn	NA	O15064|O95494|Q9NQ28	37		.	.	.	.	.	.	.	.	.	.	G	27.2	4.813398	0.90790	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.10192	2.9;2.9;2.9	5.0	5.0	0.66597	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	M	0.88031	2.925	0.80722	D	1	D	0.64830	0.994	D	0.71870	0.975	T	0.45556	-0.9253	10	0.66056	D	0.02	.	18.8498	0.92224	0.0:0.0:1.0:0.0	.	4104	Q9NYC9	DYH9_HUMAN	N	4104;4028;2610;416	ENSP00000262442:D4104N;ENSP00000414874:D4028N;ENSP00000379323:D416N	ENSP00000262442:D4104N	D	+	1	0	DNAH9	11777934	1.000000	0.71417	0.995000	0.50966	0.680000	0.39746	9.601000	0.98297	2.761000	0.94854	0.650000	0.86243	GAT	DNAH9-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000252758.4		+	ENST00000454412.2	Missense_Mutation	SNP	17 : 11837209 - 11837209 A PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	385	58
DPYD	1806	broad.mit.edu	37	1	98157326	98157326	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:98157326G>A	ENST00000370192.3	-	7	809	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	237					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ACATCATACGGCAGCCGGAAC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	88	88			NA	NA	1		NA											NA				98157326		2203	4300	6503	SO:0001583	missense			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1806	1806	1.3.1.2		3012	protein-coding gene	gene with protein product		612779			NA	7713523	Standard	NM_000110	NM_000110	NA	Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.709C>T	1.37:g.98157326G>A	ENSP00000359211:p.Pro237Ser	NA	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|Q16694|Q16761|Q96TH1	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834760	0.91036	.	.	ENSG00000188641	ENST00000370192	D	0.94966	-3.57	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.95872	0.8656	L	0.48986	1.54	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.96387	0.9286	10	0.87932	D	0	-9.0732	18.7184	0.91685	0.0:0.0:1.0:0.0	.	237	Q12882	DPYD_HUMAN	S	237	ENSP00000359211:P237S	ENSP00000359211:P237S	P	-	1	0	DPYD	97929914	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.564000	0.82326	2.497000	0.84241	0.460000	0.39030	CCG	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095698.3		-	ENST00000370192.3	Missense_Mutation	SNP	1 : 98157326 - 98157326 A PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	415	72
EEF2	1938	broad.mit.edu	37	19	3980040	3980040	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:3980040G>T	ENST00000309311.6	-	10	1459	c.1371C>A	c.(1369-1371)taC>taA	p.Y457*		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	457						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCTCCACGTAGCGGCCCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(165;1804 1908 4071 6587 18799)							NA				0													43	39	40			NA	NA	19		NA											NA				3980040		2203	4300	6503	SO:0001587	stop_gained			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658	1938	1938			3214	protein-coding gene	gene with protein product	polypeptidyl-tRNA translocase	130610		EF2	NA	2610926, 6427766	Standard	NM_001961	NM_001961	NA	Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1371C>A	19.37:g.3980040G>T	ENSP00000307940:p.Tyr457*	NA	B2RMP5|D6W618|Q58J86	37	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	G	36	5.671855	0.96754	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	.	.	.	5.45	-4.98	0.03019	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.4193	14.8867	0.70575	0.5244:0.0:0.4756:0.0	.	.	.	.	X	457	.	ENSP00000307940:Y457X	Y	-	3	2	EEF2	3931040	0.000000	0.05858	0.873000	0.34254	0.950000	0.60333	-2.827000	0.00746	-0.965000	0.03591	-1.134000	0.01955	TAC	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457615.2		-	ENST00000309311.6	Nonsense_Mutation	SNP	19 : 3980040 - 3980040 T PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	225	25
GPR26	2849	broad.mit.edu	37	10	125426350	125426350	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr10:125426350G>A	ENST00000284674.1	+	1	480	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	143					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CGCCGCGCTCGCCCTGTCCTG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	12	12			NA	NA	10		NA											NA				125426350		2185	4271	6456	SO:0001583	missense				CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478	2849	2849		GPCR / Class A : Orphans	4481	protein-coding gene	gene with protein product		604847			NA		Standard		NM_153442	NA	Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.427G>A	10.37:g.125426350G>A	ENSP00000284674:p.Ala143Thr	NA	Q2M2E2	37	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	G	8.529	0.870536	0.17322	.	.	ENSG00000154478	ENST00000284674	T	0.71579	-0.58	4.02	-0.719	0.11201	GPCR, rhodopsin-like superfamily (1);	0.365001	0.27764	N	0.017959	T	0.40815	0.1132	N	0.22421	0.69	0.27577	N	0.949701	P	0.42161	0.772	B	0.31495	0.131	T	0.39781	-0.9597	10	0.23302	T	0.38	-8.2856	3.0124	0.06048	0.0986:0.1142:0.2647:0.5225	.	143	Q8NDV2	GPR26_HUMAN	T	143	ENSP00000284674:A143T	ENSP00000284674:A143T	A	+	1	0	GPR26	125416340	1.000000	0.71417	0.565000	0.28409	0.004000	0.04260	4.445000	0.60007	0.030000	0.15379	-0.878000	0.02970	GCC	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050850.1		+	ENST00000284674.1	Missense_Mutation	SNP	10 : 125426350 - 125426350 A PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	146	20
GRIN2A	2903	broad.mit.edu	37	16	9934952	9934952	+	Silent	SNP	G	G	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr16:9934952G>T	ENST00000396573.2	-	7	1647	c.1338C>A	c.(1336-1338)acC>acA	p.T446T	GRIN2A_ENST00000404927.2_Silent_p.T446T|GRIN2A_ENST00000330684.3_Silent_p.T446T|GRIN2A_ENST00000396575.2_Silent_p.T446T|GRIN2A_ENST00000562109.1_Silent_p.T446T|GRIN2A_ENST00000535259.1_Silent_p.T289T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	446					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCCCCTCATTGGTTGAATTGC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	62	64			NA	NA	16		NA											NA				9934952		2197	4300	6497	SO:0001819	synonymous_variant				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454	NA	2903		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4585	protein-coding gene	gene with protein product		138253		NMDAR2A	NA	9480759	Standard		XM_005255267	NA	Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1338C>A	16.37:g.9934952G>T		NA	O00669	37	CCDS10539.1																																																																																			GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251930.3		-	ENST00000396573.2	Silent	SNP	16 : 9934952 - 9934952 T PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	417	60
HELQ	113510	broad.mit.edu	37	4	84342813	84342813	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:84342813C>T	ENST00000510985.1	-	14	2780	c.2651G>A	c.(2650-2652)tGg>tAg	p.W884*	HELQ_ENST00000295488.3_Nonsense_Mutation_p.W951*			Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	951							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGATACAGTCCAAATGTTGGT	0.358		NA						Other identified genes with known or suspected DNA repair function						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	93	93			NA	NA	4		NA											NA				84342813		2203	4300	6503	SO:0001587	stop_gained			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312	113510	113510			18536	protein-coding gene	gene with protein product		606769			NA	11751861	Standard	NM_133636	XM_005262711	NA	Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000510985.1:c.2651G>A	4.37:g.84342813C>T	ENSP00000424539:p.Trp884*	NA	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	37		.	.	.	.	.	.	.	.	.	.	C	42	9.277624	0.99122	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	.	.	.	5.26	5.26	0.73747	.	0.118507	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-3.6571	17.0371	0.86479	0.0:1.0:0.0:0.0	.	.	.	.	X	951;884	.	ENSP00000295488:W951X	W	-	2	0	HELQ	84561837	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.116000	0.77119	2.458000	0.83093	0.591000	0.81541	TGG	HELQ-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363955.1		-	ENST00000510985.1	Nonsense_Mutation	SNP	4 : 84342813 - 84342813 T PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	279	44
JAK3	3718	broad.mit.edu	37	19	17943473	17943473	+	Silent	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:17943473G>A	ENST00000527670.1	-	18	2564	c.2535C>T	c.(2533-2535)ggC>ggT	p.G845G	JAK3_ENST00000534444.1_Silent_p.G845G|JAK3_ENST00000458235.1_Silent_p.G845G			P52333	JAK3_HUMAN	Janus kinase 3	845	Protein kinase 2.			GD -> AH (in Ref. 1; AAA19626).	B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CTGTATTGTCGCCTAGCGGGT	0.617		2	Mis		acute megakaryocytic leukemia, ETP ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													83	75	78			NA	NA	19		NA											NA				17943473		2203	4300	6503	SO:0001819	synonymous_variant			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	3718	3718	2.7.10.1		6193	protein-coding gene	gene with protein product	tyrosine-protein kinase JAK3, leukocyte Janus kinase	600173			NA	8921370, 9226382	Standard	NM_000215	NM_000215	NA	Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2535C>T	19.37:g.17943473G>A		NA	Q13259|Q13260|Q13611|Q99699|Q9Y6S2	37	CCDS12366.1																																																																																			JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385549.1		-	ENST00000527670.1	Silent	SNP	19 : 17943473 - 17943473 A PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	704	96
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	135	18
KRT76	51350	broad.mit.edu	37	12	53170616	53170616	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr12:53170616C>A	ENST00000332411.2	-	1	513	c.460G>T	c.(460-462)Gga>Tga	p.G154*		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	154	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCTGAATTCCCCCAGGAAAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	137	130			NA	NA	12		NA											NA				53170616		2203	4300	6503	SO:0001587	stop_gained			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069	51350	51350		-, Intermediate filaments type II, keratins (basic)	24430	protein-coding gene	gene with protein product					NA	1282112, 16831889	Standard	NM_015848	NM_015848	NA	Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.460G>T	12.37:g.53170616C>A	ENSP00000330101:p.Gly154*	NA	B4DRR3|Q7Z795	37	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017156	0.93404	.	.	ENSG00000185069	ENST00000332411	.	.	.	4.47	4.47	0.54385	.	0.000000	0.45606	D	0.000341	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.9243	0.70866	0.0:0.856:0.144:0.0	.	.	.	.	X	154	.	ENSP00000330101:G154X	G	-	1	0	KRT76	51456883	0.765000	0.28485	0.996000	0.52242	0.746000	0.42486	2.690000	0.47001	2.775000	0.95449	0.555000	0.69702	GGA	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405928.1		-	ENST00000332411.2	Nonsense_Mutation	SNP	12 : 53170616 - 53170616 A PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	280	37
LMX1A	4009	broad.mit.edu	37	1	165177322	165177322	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:165177322C>T	ENST00000342310.3	-	7	1177	c.795G>A	c.(793-795)caG>caA	p.Q265Q	LMX1A_ENST00000367893.4_Silent_p.Q265Q|LMX1A_ENST00000294816.2_Silent_p.Q265Q|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	265	Gln-rich.|Poly-Gln.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TCTGGGTGTTCTGCTGATCTT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	60	68			NA	NA	1		NA											NA				165177322		2203	4300	6503	SO:0001819	synonymous_variant			AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761	4009	4009		Homeoboxes / LIM class	6653	protein-coding gene	gene with protein product		600298		LMX1	NA	7698771	Standard	NM_177398	NM_177398	NA	Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.795G>A	1.37:g.165177322C>T		NA	B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	37	CCDS1247.1																																																																																			LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083668.2		-	ENST00000342310.3	Silent	SNP	1 : 165177322 - 165177322 T PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	215	32
MALL	7851	broad.mit.edu	37	2	110849265	110849265	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:110849265G>A	ENST00000427178.1	-	2	335				MALL_ENST00000272462.2_Missense_Mutation_p.S63L			Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	NA					cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		CGAGGTGAGCGAGACATACAT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	152	159			NA	NA	2		NA											NA				110849265		2202	4298	6500	SO:0001627	intron_variant			U17077	CCDS2085.1	2q13	2008-02-05			ENSG00000144063	ENSG00000144063	7851	7851			6818	protein-coding gene	gene with protein product		602022			NA	9326933	Standard	NM_005434	NM_005434	NA	Approved	BENE	uc002tfk.3	Q13021	OTTHUMG00000131196	ENST00000427178.1:c.106-5931C>T	2.37:g.110849265G>A		NA	B3KWR6|Q9BTU0	37		.	.	.	.	.	.	.	.	.	.	G	14.81	2.645261	0.47258	.	.	ENSG00000144063	ENST00000272462	T	0.27557	1.66	3.47	3.47	0.39725	Marvel (1);MARVEL-like domain (1);	0.000000	0.49916	D	0.000125	T	0.60586	0.2280	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69892	-0.5022	10	0.66056	D	0.02	-15.224	12.7991	0.57576	0.0:0.0:1.0:0.0	.	63	Q13021	MALL_HUMAN	L	63	ENSP00000272462:S63L	ENSP00000272462:S63L	S	-	2	0	MALL	110206554	1.000000	0.71417	0.887000	0.34795	0.156000	0.22039	5.864000	0.69575	1.664000	0.50801	0.313000	0.20887	TCG	MALL-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338105.1		-	ENST00000427178.1	Intron	SNP	2 : 110849265 - 110849265 A PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	468	34
METTL14	57721	broad.mit.edu	37	4	119609076	119609076	+	Splice_Site	SNP	A	A	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:119609076A>G	ENST00000388822.5	+	2	233		c.e2-1		METTL14_ENST00000506780.1_Splice_Site			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	NA						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GTCTTTTCTCAGTTGGGAGCT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	92	93			NA	NA	4		NA											NA				119609076		2203	4300	6503	SO:0001630	splice_region_variant			AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388	57721	57721			29330	protein-coding gene	gene with protein product					NA	10997877	Standard	NM_020961	NM_020961	NA	Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.67-1A>G	4.37:g.119609076A>G		NA	A6NIG1|Q969V2	37	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	.	15.99	2.994997	0.54041	.	.	ENSG00000145388	ENST00000388822;ENST00000508801	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9182	0.79539	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	METTL14	119828524	1.000000	0.71417	0.997000	0.53966	0.490000	0.33462	8.543000	0.90651	2.229000	0.72834	0.523000	0.50628	.	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364034.3	Intron	+	ENST00000388822.5	Splice_Site	SNP	4 : 119609076 - 119609076 G PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	306	53
METTL14	57721	broad.mit.edu	37	4	119626803	119626803	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:119626803G>A	ENST00000388822.5	+	10	1060	c.893G>A	c.(892-894)cGt>cAt	p.R298H	METTL14_ENST00000506780.1_Missense_Mutation_p.R260H			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	NA						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	p.R298P(3)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						ACTGTGAAGCGTAGCACAGAC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	endometrium(3)											166	162	163			NA	NA	4		NA											NA				119626803		2203	4300	6503	SO:0001583	missense			AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388	57721	57721			29330	protein-coding gene	gene with protein product					NA	10997877	Standard	NM_020961	NM_020961	NA	Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.893G>A	4.37:g.119626803G>A	ENSP00000373474:p.Arg298His	NA	A6NIG1|Q969V2	37	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942676	0.92526	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	T;T	0.50001	0.76;0.76	5.82	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83365	0.0004	10	0.72032	D	0.01	-3.4786	15.0159	0.71584	0.0684:0.0:0.9316:0.0	.	260;298	D6RBL4;Q9HCE5	.;MTL14_HUMAN	H	298;260	ENSP00000373474:R298H;ENSP00000424111:R260H	ENSP00000373474:R298H	R	+	2	0	METTL14	119846251	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.229000	0.95273	1.472000	0.48140	0.585000	0.79938	CGT	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364034.3		+	ENST00000388822.5	Missense_Mutation	SNP	4 : 119626803 - 119626803 A PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	771	91
MLLT6	4302	broad.mit.edu	37	17	36869292	36869292	+	Silent	SNP	A	A	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:36869292A>G	ENST00000378137.5	+	9	997	c.906A>G	c.(904-906)ccA>ccG	p.P302P	MLLT6_ENST00000325718.7_Intron			P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	631					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GCCTCTGTCCAGAGGGCCTCA	0.607		NA	T	MLL	AL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q21	4302	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)		L	0													94	88	90			NA	NA	17		NA											NA				36869292		876	1991	2867	SO:0001819	synonymous_variant				CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023	4302	4302		Zinc fingers, PHD-type	7138	protein-coding gene	gene with protein product	Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6, trithorax homolog	600328	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6		NA	8058765	Standard	NM_005937	NM_005937	NA	Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000378137.5:c.906A>G	17.37:g.36869292A>G		NA	Q59F28|Q96IU3|Q9H5F6|Q9UF49	37																																																																																				MLLT6-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000256800.2		+	ENST00000378137.5	Silent	SNP	17 : 36869292 - 36869292 G PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	420	71
MMP3	4314	broad.mit.edu	37	11	102708080	102708080	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:102708080C>A	ENST00000299855.5	-	9	1538	c.1282G>T	c.(1282-1284)Gaa>Taa	p.E428*		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	428	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GGAAAGTCTTCAGCTATTTGC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	148	147			NA	NA	11		NA											NA				102708080		2203	4299	6502	SO:0001587	stop_gained			X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	4314	4314	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	matrix metalloproteinase 3 (stromelysin 1, progelatinase)	STMY1, STMY	NA		Standard	NM_002422	NM_002422	NA	Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.1282G>T	11.37:g.102708080C>A	ENSP00000299855:p.Glu428*	NA	B2R8B8|Q3B7S0|Q6GRF8	37	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028856	0.35797	.	.	ENSG00000149968	ENST00000299855	.	.	.	5.17	4.18	0.49190	.	1.143500	0.06851	N	0.797303	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	14.2805	0.66208	0.0:0.9177:0.0:0.0823	.	.	.	.	X	428	.	ENSP00000299855:E428X	E	-	1	0	MMP3	102213290	0.000000	0.05858	0.892000	0.35008	0.436000	0.31835	-0.170000	0.09897	2.687000	0.91594	0.655000	0.94253	GAA	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109758.2		-	ENST00000299855.5	Nonsense_Mutation	SNP	11 : 102708080 - 102708080 A PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	600	58
MYH2	4620	broad.mit.edu	37	17	10432367	10432367	+	Silent	SNP	G	G	A	rs139130605		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:10432367G>A	ENST00000532183.2	-	16	2243				RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.I1128I|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000245503.5_Silent_p.I1128I|RP11-799N11.1_ENST00000581304.1_RNA			Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	NA					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTCTGCCTCGATTTCCTCCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	2,4396		0,2,2197	34	39	37		3384,3384	-2.5	1	17	dbSNP_134	37	1,8591		0,1,4295	no	coding-synonymous,coding-synonymous	MYH2	NM_001100112.1,NM_017534.5	,	0,3,6492	AA,AG,GG	NA	0.0116,0.0455,0.0231	,	1128/1942,1128/1942	10432367	3,12987	2199	4296	6495	SO:0001627	intron_variant				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414	4620	4620		Myosins / Myosin superfamily : Class II	7572	protein-coding gene	gene with protein product		160740	myosin, heavy polypeptide 2, skeletal muscle, adult, inclusion body myopathy 3, autosomal dominant	IBM3	NA	7545970, 11889243	Standard	NM_017534	NM_001100112	NA	Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000532183.2:c.1974+7479C>T	17.37:g.10432367G>A		NA	A0AVL4|Q14322|Q16229|Q86T56	37																																																																																				MYH2-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394461.43		-	ENST00000532183.2	Intron	SNP	17 : 10432367 - 10432367 A PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	348	58
MYLK	4638	broad.mit.edu	37	3	123411658	123411658	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr3:123411658C>T	ENST00000360772.3	-	20	3867	c.3489G>A	c.(3487-3489)gaG>gaA	p.E1163E	MYLK_ENST00000346322.5_Silent_p.E1094E|MYLK_ENST00000360304.3_Silent_p.E1163E|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000359169.1_Silent_p.E1163E|MYLK_ENST00000475616.1_Silent_p.E1163E			Q15746	MYLK_HUMAN	myosin light chain kinase	1163	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCCTCTGTCCTCAGGCAGTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	75	82			NA	NA	3		NA											NA				123411658		2203	4300	6503	SO:0001819	synonymous_variant			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	4638	4638	2.7.11.18	Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7590	protein-coding gene	gene with protein product	smooth muscle myosin light chain kinase	600922	myosin, light polypeptide kinase		NA	8575746	Standard	NM_053025	NM_053026	NA	Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000360772.3:c.3489G>A	3.37:g.123411658C>T		NA	O95796|O95797|O95798|O95799|Q14844|Q16794|Q5MY99|Q5MYA0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UIT9	37	CCDS3023.1																																																																																			MYLK-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280599.2		-	ENST00000360772.3	Silent	SNP	3 : 123411658 - 123411658 T PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	367	15
OR51B5	282763	broad.mit.edu	37	11	5364521	5364521	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:5364521C>T	ENST00000300773.2	-	1	288	c.234G>A	c.(232-234)acG>acA	p.T78T	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	78			T -> K (in dbSNP:rs57273781).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCCAGCACCGTGGGCATTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4402		0,0,2201	43	45	44		234	-9.5	0	11		44	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	OR51B5	NM_001005567.2		0,1,6497	TT,TC,CC	NA	0.0116,0.0,0.0077		78/313	5364521	1,12995	2201	4297	6498	SO:0001819	synonymous_variant			BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180	282763	282763		GPCR / Class A : Olfactory receptors	19599	protein-coding gene	gene with protein product					NA		Standard	NM_001005567	NM_001005567	NA	Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.234G>A	11.37:g.5364521C>T		NA	B2RN59	37	CCDS31378.1																																																																																			OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142975.1		-	ENST00000300773.2	Silent	SNP	11 : 5364521 - 5364521 T PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	347	48
PCDHB11	56125	broad.mit.edu	37	5	140581425	140581425	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:140581425C>T	ENST00000354757.3	+	1	2078	c.2078C>T	c.(2077-2079)gCg>gTg	p.A693V	PCDHB11_ENST00000536699.1_Missense_Mutation_p.A328V	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	693					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A693V(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGGTGGTGGCGTTGGCCTCG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											85	86	85			NA	NA	5		NA											NA				140581425		2203	4295	6498	SO:0001583	missense			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479	56125	56125		Cadherins / Protocadherins : Clustered	8682	other	protocadherin	cadherin ME2	606337			NA	10380929	Standard	NM_018931	NM_018931	NA	Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.2078C>T	5.37:g.140581425C>T	ENSP00000346802:p.Ala693Val	NA	Q2M223	37	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	c	24.3	4.514543	0.85389	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.25250	1.81;1.81	2.64	2.64	0.31445	.	.	.	.	.	T	0.63498	0.2516	H	0.98559	4.265	0.09310	N	1	D	0.76494	0.999	D	0.66196	0.942	T	0.59005	-0.7535	9	0.87932	D	0	.	10.5162	0.44892	0.0:0.8009:0.1991:0.0	.	693	Q9Y5F2	PCDBB_HUMAN	V	328;693	ENSP00000440344:A328V;ENSP00000346802:A693V	ENSP00000346802:A693V	A	+	2	0	PCDHB11	140561609	0.083000	0.21467	0.009000	0.14445	0.760000	0.43138	3.624000	0.54231	1.481000	0.48307	0.449000	0.29647	GCG	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251813.1		+	ENST00000354757.3	Missense_Mutation	SNP	5 : 140581425 - 140581425 T PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	1227	181
PCDHGA8	9708	broad.mit.edu	37	5	140772668	140772668	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:140772668C>T	ENST00000398604.2	+	1	288	c.288C>T	c.(286-288)tgC>tgT	p.C96C	PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_032088.1	NP_114477.1			protocadherin gamma subfamily A, 8	NA										endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGCTCTGCGCTCAGAGCC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	37	35			NA	NA	5		NA											NA				140772668		2159	4287	6446	SO:0001819	synonymous_variant			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767	9708	9708		Cadherins / Protocadherins : Clustered	8706	other	protocadherin		606295			NA	10380929	Standard	NM_032088	NM_014004	NA	Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.288C>T	5.37:g.140772668C>T		NA		37	CCDS47291.1																																																																																			PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376972.1		+	ENST00000398604.2	Silent	SNP	5 : 140772668 - 140772668 T PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	370	13
RAD17	5884	broad.mit.edu	37	5	68692363	68692363	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:68692363T>A	ENST00000509734.1	+	15	2273	c.1595T>A	c.(1594-1596)aTa>aAa	p.I532K	RAD17_ENST00000345306.6_Missense_Mutation_p.I521K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000521422.1_Missense_Mutation_p.I356K|RAD17_ENST00000354868.5_Missense_Mutation_p.I521K|RAD17_ENST00000305138.4_Missense_Mutation_p.I521K|RAD17_ENST00000354312.3_Missense_Mutation_p.I521K|RAD17_ENST00000282891.6_Missense_Mutation_p.I435K|RAD17_ENST00000358030.2_Missense_Mutation_p.I356K|RAD17_ENST00000380774.3_Missense_Mutation_p.I532K|RAD17_ENST00000361732.2_Missense_Mutation_p.I521K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	532	Interaction with MCM7.				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding				NA		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TGGTTTCTAATAAATAAAAAG	0.343		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	23	24			NA	NA	5		NA											NA				68692363		2203	4300	6503	SO:0001583	missense			AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942	5884	5884			9807	protein-coding gene	gene with protein product		603139	RAD1 (S. pombe) homolog		NA	9869296, 9660800	Standard	NM_133344	NM_133343	NA	Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1595T>A	5.37:g.68692363T>A	ENSP00000426191:p.Ile532Lys	NA	A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	37	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.079857	0.76528	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;T;T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.24	5.24	0.73138	.	0.196705	0.53938	D	0.000058	T	0.42653	0.1212	L	0.56769	1.78	0.58432	D	0.999994	D;D;D	0.69078	0.991;0.989;0.997	D;P;D	0.67382	0.951;0.888;0.918	T	0.35943	-0.9768	10	0.72032	D	0.01	-25.9714	9.0349	0.36282	0.0:0.0847:0.0:0.9153	.	532;435;521	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	K	521;532;521;356;521;521;521;435;356;532;140	ENSP00000355226:I521K;ENSP00000426191:I532K;ENSP00000346938:I521K;ENSP00000427743:I356K;ENSP00000346271:I521K;ENSP00000311227:I521K;ENSP00000303134:I521K;ENSP00000282891:I435K;ENSP00000350725:I356K;ENSP00000370151:I532K;ENSP00000425005:I140K	ENSP00000282891:I435K	I	+	2	0	RAD17	68728119	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.213000	0.65230	2.098000	0.63641	0.455000	0.32223	ATA	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369171.1		+	ENST00000509734.1	Missense_Mutation	SNP	5 : 68692363 - 68692363 A PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	83	10
RTN3	10313	broad.mit.edu	37	11	63520109	63520109	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:63520109T>A	ENST00000377819.5	+	5	3023	c.2869T>A	c.(2869-2871)Tcc>Acc	p.S957T	RTN3_ENST00000341307.2_Missense_Mutation_p.S161T|RTN3_ENST00000356000.3_Missense_Mutation_p.S180T|RTN3_ENST00000339997.4_Missense_Mutation_p.S938T|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Missense_Mutation_p.S161T|RTN3_ENST00000540798.1_Missense_Mutation_p.S845T	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	957	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCTGGTTGACTCCTTGAAGGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	168	171			NA	NA	11		NA											NA				63520109		2201	4298	6499	SO:0001583	missense			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318	10313	10313			10469	protein-coding gene	gene with protein product	neuroendocrine-specific protein-like 2, NSP-like protein II, isoforme III, ASY interacting protein, homolog of ASY protein	604249			NA	10331947	Standard	NM_006054	NM_006054	NA	Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2869T>A	11.37:g.63520109T>A	ENSP00000367050:p.Ser957Thr	NA	B3KQS2|B7Z308|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	37	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.019868	0.93462	.	.	ENSG00000133318	ENST00000341307;ENST00000356000;ENST00000377819;ENST00000339997;ENST00000540798;ENST00000537981	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.998;0.999;0.997;0.997;0.998	D;D;D;D;D;D	0.85130	0.997;0.996;0.994;0.919;0.993;0.994	T	0.73467	-0.3973	10	0.87932	D	0	-10.1047	13.8015	0.63204	0.0:0.0:0.0:1.0	.	845;957;161;161;938;180	F5H774;O95197;O95197-5;O95197-3;O95197-2;O95197-4	.;RTN3_HUMAN;.;.;.;.	T	161;180;957;938;845;161	ENSP00000340903:S161T;ENSP00000348279:S180T;ENSP00000367050:S957T;ENSP00000344106:S938T;ENSP00000442733:S845T;ENSP00000440874:S161T	ENSP00000344106:S938T	S	+	1	0	RTN3	63276685	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.825000	0.86693	2.149000	0.67028	0.374000	0.22700	TCC	RTN3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397846.1		+	ENST00000377819.5	Missense_Mutation	SNP	11 : 63520109 - 63520109 A PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	1033	143
SEPT9	10801	broad.mit.edu	37	17	75471704	75471704	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:75471704T>A	ENST00000427180.1	+	1	380	c.104T>A	c.(103-105)cTg>cAg	p.L35Q	SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000427177.1_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000427674.2_Intron	NM_001113495.1	NP_001106967.1	Q9UHD8	SEPT9_HUMAN	septin 9	219					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GGAGGGCAGCTGGAGGCTGCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	29	28			NA	NA	17		NA											NA				75471704		1568	3582	5150	SO:0001583	missense			AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640	10801	10801		Septins	7323	protein-coding gene	gene with protein product	Ov/Br septin	604061	MLL septin-like fusion	MSF	NA	10339604, 10485469	Standard	NM_006640	NM_006640	NA	Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427180.1:c.104T>A	17.37:g.75471704T>A	ENSP00000415624:p.Leu35Gln	NA	A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	37	CCDS45794.1	.	.	.	.	.	.	.	.	.	.	T	8.490	0.861780	0.17178	.	.	ENSG00000184640	ENST00000427180	T	0.55930	0.49	1.19	-2.05	0.07321	.	.	.	.	.	T	0.34048	0.0884	.	.	.	0.09310	N	0.999999	B	0.14012	0.009	B	0.04013	0.001	T	0.27468	-1.0073	8	0.87932	D	0	.	2.0025	0.03470	0.2607:0.1943:0.0:0.545	.	35	Q9UHD8-8	.	Q	35	ENSP00000415624:L35Q	ENSP00000415624:L35Q	L	+	2	0	SEPT9	72983299	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.534000	0.06150	-0.663000	0.05331	0.247000	0.18012	CTG	SEPT9-015	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436361.1		+	ENST00000427180.1	Missense_Mutation	SNP	17 : 75471704 - 75471704 A PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	175	5
SETDB1	9869	broad.mit.edu	37	1	150921869	150921869	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:150921869C>G	ENST00000271640.5	+	12	1638	c.1448C>G	c.(1447-1449)tCa>tGa	p.S483*	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Nonsense_Mutation_p.S483*	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTGCCCAGTCACGGAAGCAG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	113	111			NA	NA	1		NA											NA				150921869		2203	4300	6503	SO:0001587	stop_gained			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379	9869	9869		Chromatin-modifying enzymes / K-methyltransferases, Tudor domain containing	10761	protein-coding gene	gene with protein product	tudor domain containing 21	604396			NA	10343109	Standard		NM_001145415	NA	Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1448C>G	1.37:g.150921869C>G	ENSP00000271640:p.Ser483*	NA	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	37	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224540	0.95139	.	.	ENSG00000143379	ENST00000271640;ENST00000534805;ENST00000368969;ENST00000498193	.	.	.	4.86	3.9	0.45041	.	0.403570	0.27604	N	0.018633	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	11.7618	0.51908	0.136:0.7327:0.1313:0.0	.	.	.	.	X	483;484;483;483	.	ENSP00000271640:S483X	S	+	2	0	SETDB1	149188493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.799000	0.38824	2.528000	0.85240	0.561000	0.74099	TCA	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084717.2		+	ENST00000271640.5	Nonsense_Mutation	SNP	1 : 150921869 - 150921869 G PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	523	76
TEX13A	56157	broad.mit.edu	37	X	104463929	104463929	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:104463929G>T	ENST00000372578.3	-	3	1060	c.949C>A	c.(949-951)Cta>Ata	p.L317I	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.L317I|TEX13A_ENST00000413579.1_Missense_Mutation_p.T316N|IL1RAPL2_ENST00000344799.4_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						AGGGGATATAGTGGGTATGTC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	103	104			NA	NA	X		NA											NA				104463929		2180	4289	6469	SO:0001583	missense			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629	56157	56157			11735	protein-coding gene	gene with protein product		300312	testis expressed sequence 13A		NA	11279525	Standard	NM_031274	NM_031274	NA	Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000372578.3:c.949C>A	X.37:g.104463929G>T	ENSP00000361659:p.Leu317Ile	NA	B1B1G8|Q32NB6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.45|12.45	1.942954|1.942954	0.34283|0.34283	.|.	.|.	ENSG00000133149|ENSG00000133149	ENST00000372578;ENST00000372575|ENST00000413579	.|.	.|.	.|.	3.32|3.32	1.48|1.48	0.22813|0.22813	.|.	.|1.263750	.|0.05914	.|N	.|0.632236	T|T	0.43809|0.43809	0.1264|0.1264	L|L	0.58101|0.58101	1.795|1.795	0.09310|0.09310	N|N	1|1	.|D	.|0.58268	.|0.982	.|P	.|0.52598	.|0.703	T|T	0.21724|0.21724	-1.0237|-1.0237	6|9	0.87932|0.56958	D|D	0|0.05	.|.	3.943|3.943	0.09336|0.09336	0.146:0.2451:0.6089:0.0|0.146:0.2451:0.6089:0.0	.|.	.|316	.|Q9BXU3	.|TX13A_HUMAN	I|N	317|316	.|.	ENSP00000361656:L317I|ENSP00000399753:T316N	L|T	-|-	1|2	2|0	TEX13A|TEX13A	104350585|104350585	0.026000|0.026000	0.19158|0.19158	0.002000|0.002000	0.10522|0.10522	0.014000|0.014000	0.08584|0.08584	1.926000|1.926000	0.40084|0.40084	0.262000|0.262000	0.21774|0.21774	-0.545000|-0.545000	0.04230|0.04230	CTA|ACT	TEX13A-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000057774.1		-	ENST00000372578.3	Missense_Mutation	SNP	X : 104463929 - 104463929 T PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	340	51
TRPC7	57113	broad.mit.edu	37	5	135587384	135587384	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:135587384G>A	ENST00000513104.1	-	6	1814	c.1532C>T	c.(1531-1533)aCg>aTg	p.T511M	TRPC7_ENST00000355180.3_Missense_Mutation_p.T450M|TRPC7_ENST00000426057.2_Missense_Mutation_p.T395M	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	511					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTGTGCAGCGTGTCGTCCTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	58	57			NA	NA	5		NA											NA				135587384		2159	4258	6417	SO:0001583	missense			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018	57113	57113		Voltage-gated ion channels / Transient receptor potential cation channels	20754	protein-coding gene	gene with protein product					NA	11805119, 16382100	Standard	NM_020389	NM_020389	NA	Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1532C>T	5.37:g.135587384G>A	ENSP00000426070:p.Thr511Met	NA	A1A4Z4	37	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730593	0.30684	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.79554	-1.08;-1.28;-1.15	5.21	4.28	0.50868	Ion transport (1);	0.529059	0.20685	N	0.087579	T	0.81317	0.4797	L	0.39898	1.24	0.33214	D	0.553753	D;P;P;P	0.61697	0.99;0.814;0.846;0.792	P;B;P;P	0.59595	0.86;0.311;0.46;0.505	T	0.81856	-0.0740	10	0.32370	T	0.25	-11.4232	11.0783	0.48045	0.0:0.0:0.6422:0.3578	.	395;450;456;511	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	M	450;395;511;511	ENSP00000347312:T450M;ENSP00000441628:T395M;ENSP00000426070:T511M	ENSP00000265193:T511M	T	-	2	0	TRPC7	135615283	1.000000	0.71417	0.980000	0.43619	0.056000	0.15407	4.339000	0.59322	2.720000	0.93068	0.650000	0.86243	ACG	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366975.1		-	ENST00000513104.1	Missense_Mutation	SNP	5 : 135587384 - 135587384 A PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	196	29
VCAN	1462	broad.mit.edu	37	5	82818108	82818108	+	Missense_Mutation	SNP	A	A	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:82818108A>G	ENST00000265077.3	+	7	4548	c.3983A>G	c.(3982-3984)gAg>gGg	p.E1328G	VCAN_ENST00000342785.4_Missense_Mutation_p.E1328G|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E1280G	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1328	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TATATTATTGAGGTCAGAGAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	45	45			NA	NA	5		NA											NA				82818108		2154	4128	6282	SO:0001583	missense			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427	1462	1462		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans	2464	protein-coding gene	gene with protein product	versican proteoglycan	118661	chondroitin sulfate proteoglycan 2	CSPG2	NA	1478664, 21063030	Standard	NM_004385	NM_004385	NA	Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3983A>G	5.37:g.82818108A>G	ENSP00000265077:p.Glu1328Gly	NA	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.524357	0.44969	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.86865	-2.1;-2.15;-2.18	5.61	3.08	0.35506	.	0.311300	0.27735	N	0.018078	D	0.90937	0.7151	M	0.71581	2.175	0.27726	N	0.944977	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.922	D	0.84462	0.0594	10	0.87932	D	0	.	9.5811	0.39488	0.7423:0.1873:0.0705:0.0	.	1328;1328	P13611-3;P13611	.;CSPG2_HUMAN	G	1328;1328;1280	ENSP00000265077:E1328G;ENSP00000342768:E1328G;ENSP00000425959:E1280G	ENSP00000265077:E1328G	E	+	2	0	VCAN	82853864	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.791000	0.38744	0.967000	0.38186	-0.256000	0.11100	GAG	VCAN-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254092.3		+	ENST00000265077.3	Missense_Mutation	SNP	5 : 82818108 - 82818108 G PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	507	72
ZFPM2	23414	broad.mit.edu	37	8	106815377	106815377	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr8:106815377G>A	ENST00000407775.2	+	8	3317	c.3067G>A	c.(3067-3069)Ggg>Agg	p.G1023R	RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G754R|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G891R|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G891R|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1023					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTCCTCAAATGGGTGTGCTGC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	63	64			NA	NA	8		NA											NA				106815377		1939	4133	6072	SO:0001583	missense			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946	23414	23414		Zinc fingers, C2H2-type, Zinc fingers, C2HC-type containing	16700	protein-coding gene	gene with protein product		603693	zinc finger protein, multitype 2		NA	9927675, 10438528	Standard		NM_012082	NA	Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3067G>A	8.37:g.106815377G>A	ENSP00000384179:p.Gly1023Arg	NA	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774158	0.31411	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.24350	1.86;2.36;2.36;3.56	5.96	5.96	0.96718	.	0.045750	0.85682	D	0.000000	T	0.14442	0.0349	N	0.19112	0.55	0.80722	D	1	P	0.43938	0.822	B	0.32211	0.142	T	0.04811	-1.0925	10	0.33141	T	0.24	.	13.5936	0.61975	0.0705:0.0:0.9295:0.0	.	1023	Q8WW38	FOG2_HUMAN	R	1023;891;891;754	ENSP00000384179:G1023R;ENSP00000430757:G891R;ENSP00000428720:G891R;ENSP00000367733:G754R	ENSP00000367733:G754R	G	+	1	0	ZFPM2	106884553	1.000000	0.71417	0.952000	0.39060	0.888000	0.51559	6.872000	0.75536	2.831000	0.97527	0.650000	0.86243	GGG	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380614.1		+	ENST00000407775.2	Missense_Mutation	SNP	8 : 106815377 - 106815377 A PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	246	21
ZFYVE26	23503	broad.mit.edu	37	14	68274196	68274196	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr14:68274196G>A	ENST00000347230.4	-	5	943	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R269W	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	269					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGCAGGCCCCGGCTGGCCTTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	37	36			NA	NA	14		NA											NA				68274196		2203	4300	6503	SO:0001583	missense			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121	23503	23503		Zinc fingers, FYVE domain containing	20761	protein-coding gene	gene with protein product	spastizin, FYVE-CENT	612012	spastic paraplegia 15 (complicated, autosomal recessive)	SPG15	NA	9205841, 18394578	Standard	NM_015346	NM_015346	NA	Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.805C>T	14.37:g.68274196G>A	ENSP00000251119:p.Arg269Trp	NA	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	9.505	1.104323	0.20632	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.29142	1.72;1.58	5.57	1.59	0.23543	.	0.928117	0.09227	N	0.831027	T	0.25938	0.0632	L	0.47716	1.5	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.04013	0.0;0.0;0.001	T	0.26744	-1.0094	10	0.37606	T	0.19	-3.9128	7.1516	0.25614	0.1304:0.0:0.6248:0.2448	.	269;269;269	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	W	269;248;269	ENSP00000251119:R269W;ENSP00000450603:R269W	ENSP00000251119:R269W	R	-	1	2	ZFYVE26	67343949	0.000000	0.05858	0.000000	0.03702	0.642000	0.38348	0.592000	0.23984	0.018000	0.15052	-0.424000	0.05967	CGG	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412736.2		-	ENST00000347230.4	Missense_Mutation	SNP	14 : 68274196 - 68274196 A PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	266	44
ZNF667	63934	broad.mit.edu	37	19	56953504	56953504	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:56953504C>T	ENST00000591790.1	-	0	2439				ZNF667_ENST00000504904.3_Missense_Mutation_p.G287E|ZNF667_ENST00000292069.6_Missense_Mutation_p.G287E|ZNF667_ENST00000342634.3_Missense_Mutation_p.G415E			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GAAGCCTCTCCCACATTTATT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	75	73			NA	NA	19		NA											NA				56953504		2202	4297	6499	SO:0001624	3_prime_UTR_variant				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046	63934	63934		Zinc fingers, C2H2-type, -	28854	protein-coding gene	gene with protein product		611024			NA		Standard	NM_022103	NM_022103	NA	Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000591790.1:c.*627G>A	19.37:g.56953504C>T		NA	B2RMS6|B9EK36|Q6B093|Q9H807	37		.	.	.	.	.	.	.	.	.	.	C	6.063	0.380022	0.11466	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518	T;T;T	0.35421	1.31;1.31;1.31	5.05	2.86	0.33363	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.500329	0.16953	N	0.192810	T	0.24851	0.0603	L	0.41356	1.27	0.25144	N	0.990479	P;P	0.39748	0.686;0.551	B;B	0.33960	0.173;0.085	T	0.11421	-1.0588	10	0.56958	D	0.05	-0.6017	7.2307	0.26040	0.0:0.7256:0.0:0.2744	.	415;287	E7EPS0;Q5HYK9	.;ZN667_HUMAN	E	415;287;287;69	ENSP00000344699:G415E;ENSP00000439402:G287E;ENSP00000292069:G287E	ENSP00000292069:G287E	G	-	2	0	ZNF667	61645316	0.021000	0.18746	0.015000	0.15790	0.010000	0.07245	2.416000	0.44644	0.676000	0.31285	0.591000	0.81541	GGG	ZNF667-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458393.2		-	ENST00000591790.1	3'UTR	SNP	19 : 56953504 - 56953504 T PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	531	61
ZNF716	441234	broad.mit.edu	37	7	57528950	57528950	+	Silent	SNP	A	A	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:57528950A>G	ENST00000420713.1	+	4	895	c.783A>G	c.(781-783)agA>agG	p.R261R		NM_001159279.1	NP_001152751.1			zinc finger protein 716	NA										breast(1)|kidney(1)|lung(20)|ovary(2)	24						AACATAAGAGAATTCATACTG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	32	31			NA	NA	7		NA											NA				57528950		692	1591	2283	SO:0001819	synonymous_variant			AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111	441234	441234		Zinc fingers, C2H2-type, -	32458	protein-coding gene	gene with protein product					NA		Standard	NM_001159279	NM_001159279	NA	Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.783A>G	7.37:g.57528950A>G		NA		37	CCDS55112.1																																																																																			ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345309.1		+	ENST00000420713.1	Silent	SNP	7 : 57528950 - 57528950 G PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	170	21
ZNF835	90485	broad.mit.edu	37	19	57175237	57175237	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:57175237G>A	ENST00000537055.2	-	2	1561	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W		NM_001005850.2	NP_001005850.2			zinc finger protein 835	NA										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GTGTAGGGCCGCTCGCCCGTG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	51	49			NA	NA	19		NA											NA				57175237		2201	4297	6498	SO:0001583	missense			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903	90485	90485		Zinc fingers, C2H2-type	34332	protein-coding gene	gene with protein product					NA		Standard	NM_001005850	NM_001005850	NA	Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1330C>T	19.37:g.57175237G>A	ENSP00000444747:p.Arg444Trp	NA		37	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845368	0.51164	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.20332	2.08	2.15	-1.97	0.07503	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44222	0.1283	M	0.83483	2.645	0.25382	N	0.988608	D	0.89917	1.0	D	0.73708	0.981	T	0.34576	-0.9823	9	0.87932	D	0	.	9.9557	0.41666	0.0:0.0:0.2207:0.7793	.	466	Q9Y2P0	ZN835_HUMAN	W	466;444	ENSP00000444747:R444W	ENSP00000341756:R466W	R	-	1	2	ZNF835	61867049	0.000000	0.05858	0.574000	0.28523	0.685000	0.39939	-0.428000	0.06991	-0.414000	0.07495	0.561000	0.74099	CGG	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459800.1		-	ENST00000537055.2	Missense_Mutation	SNP	19 : 57175237 - 57175237 A PAAD-TCGA-F2-A44G-Tumor-SM-47KKT	538	79
