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
ABLIM1	3983	broad.mit.edu	37	10	116307515	116307515	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr10:116307515C>G	ENST00000277895.5	-	5	791	c.694G>C	c.(694-696)Gat>Cat	p.D232H	ABLIM1_ENST00000533213.2_Missense_Mutation_p.D172H|ABLIM1_ENST00000369252.4_Missense_Mutation_p.D172H	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	232	LIM zinc-binding 3.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TTCTTGATATCTCTTCCGCAG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	36	36			NA	NA	10		NA											NA				116307515		2203	4300	6503	SO:0001583	missense			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204	3983	3983			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM	NA	9245787	Standard		NM_002313	NA	Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.694G>C	10.37:g.116307515C>G	ENSP00000277895:p.Asp232His	NA	A6NI16|A6NJ06|A8MXA9|Q15039|Q5JVV1|Q5JVV2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	37	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.080432|5.080432	0.94050|0.94050	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369256;ENST00000369260;ENST00000277895|ENST00000392955	D;D;D|.	0.87412|.	-2.25;-2.25;-2.25|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Zinc finger, LIM-type (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50480|0.50480	0.1618|0.1618	N|N	0.11756|0.11756	0.17|0.17	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.998;0.98;0.997|.	D;D;D;D;D;D|.	0.91635|.	0.989;0.999;0.993;0.99;0.931;0.95|.	T|T	0.44205|0.44205	-0.9343|-0.9343	10|5	0.87932|.	D|.	0|.	.|.	19.7538|19.7538	0.96281|0.96281	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	156;172;172;232;172;156|.	B7Z4H1;F8W8M4;A6NKJ2;O14639;B3KVH2;C9K0X4|.	.;.;.;ABLM1_HUMAN;.;.|.	H|D	232;172;172;172;232;156;156;156;232|140	ENSP00000358256:D172H;ENSP00000433629:D172H;ENSP00000277895:D232H|.	ENSP00000277895:D232H|.	D|E	-|-	1|3	0|2	ABLIM1|ABLIM1	116297505|116297505	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.930000|0.930000	0.56654|0.56654	7.640000|7.640000	0.83355|0.83355	2.690000|2.690000	0.91761|0.91761	0.655000|0.655000	0.94253|0.94253	GAT|GAG	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050469.3		-	ENST00000277895.5	Missense_Mutation	SNP	10 : 116307515 - 116307515 G PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	214	68
ADM	133	broad.mit.edu	37	11	10327978	10327978	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:10327978G>A	ENST00000526492.1	+	4	542	c.379G>A	c.(379-381)Ggt>Agt	p.G127S	ADM_ENST00000530439.1_Silent_p.T48T|ADM_ENST00000534464.1_Silent_p.T69T|ADM_ENST00000528655.1_Silent_p.T116T|ADM_ENST00000525063.1_Silent_p.T116T|ADM_ENST00000278175.5_Silent_p.T116T			P35318	ADML_HUMAN	adrenomedullin	0					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GGACGTGCACGGTGCAGAAGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	36	36			NA	NA	11		NA											NA				10327978		2201	4294	6495	SO:0001583	missense			D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926	133	133		Endogenous ligands	259	protein-coding gene	gene with protein product		103275			NA	7688224	Standard	NM_001124	NM_001124	NA	Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000526492.1:c.379G>A	11.37:g.10327978G>A	ENSP00000434354:p.Gly127Ser	NA	B2R793|D3DQV3|Q6FGW2	37		.	.	.	.	.	.	.	.	.	.	G	13.83	2.354363	0.41700	.	.	ENSG00000148926	ENST00000526492	T	0.38887	1.11	5.58	-8.42	0.00957	.	.	.	.	.	T	0.33059	0.0850	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.51044	-0.8755	6	0.87932	D	0	-19.2336	5.6872	0.17809	0.2155:0.3914:0.3179:0.0752	.	.	.	.	S	127	ENSP00000434354:G127S	ENSP00000434354:G127S	G	+	1	0	ADM	10284554	0.101000	0.21875	0.568000	0.28447	0.908000	0.53690	-1.312000	0.02720	-1.324000	0.02272	-1.567000	0.00876	GGT	ADM-006	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000387009.1		+	ENST00000526492.1	Missense_Mutation	SNP	11 : 10327978 - 10327978 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	180	4
AIDA	64853	broad.mit.edu	37	1	222885606	222885606	+	Missense_Mutation	SNP	T	T	G			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:222885606T>G	ENST00000340020.6	-	1	260	c.54A>C	c.(52-54)agA>agC	p.R18S	AIDA_ENST00000355727.2_Missense_Mutation_p.R18S|AIDA_ENST00000541237.1_Intron|AIDA_ENST00000474863.1_5'UTR	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	18					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity					kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						AGTCGGCGCCTCTCCTAAAAC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	15	16			NA	NA	1		NA											NA				222885606		2200	4293	6493	SO:0001583	missense			BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063	64853	64853			25761	protein-coding gene	gene with protein product	axin interaction partner and dorsalization antagonist	612375	chromosome 1 open reading frame 80	C1orf80	NA	8619474, 9110174, 17681137	Standard	NM_022831	NM_022831	NA	Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.54A>C	1.37:g.222885606T>G	ENSP00000339161:p.Arg18Ser	NA	A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	37	CCDS1533.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404232	0.62288	.	.	ENSG00000186063	ENST00000340020;ENST00000355727	.	.	.	5.51	-0.695	0.11291	Axin interactor, dorsalization-associated protein, N-terminal (2);	0.043570	0.85682	D	0.000000	T	0.40222	0.1108	N	0.22421	0.69	0.80722	D	1	B	0.09022	0.002	B	0.20577	0.03	T	0.26849	-1.0091	9	0.72032	D	0.01	.	10.6482	0.45632	0.0:0.4119:0.0:0.5881	.	18	Q96BJ3	AIDA_HUMAN	S	18	.	ENSP00000339161:R18S	R	-	3	2	AIDA	220952229	0.998000	0.40836	0.998000	0.56505	0.988000	0.76386	0.355000	0.20163	0.071000	0.16664	-0.432000	0.05891	AGA	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091818.1		-	ENST00000340020.6	Missense_Mutation	SNP	1 : 222885606 - 222885606 G PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	44	4
ARID1A	8289	broad.mit.edu	37	1	27099479	27099479	+	Splice_Site	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:27099479G>A	ENST00000457599.2	+	14	3715		c.e14+1		ARID1A_ENST00000324856.7_Splice_Site|ARID1A_ENST00000540690.1_Splice_Site|ARID1A_ENST00000374152.2_Splice_Site	NM_139135.2	NP_624361.1	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	NA					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATGAGGAAAGGTGACTGATCT	0.488		NA	Mis, N, F, S, D		clear cell ovarian carcinoma, RCC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													94	103	100			NA	NA	1		NA											NA				27099479		2203	4300	6503	SO:0001630	splice_region_variant			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713	8289	8289		-	11110	protein-coding gene	gene with protein product		603024	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1, AT rich interactive domain 1A (SWI- like)	C1orf4, SMARCF1	NA	9630625, 9434167	Standard	NM_139135	NM_139135	NA	Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000457599.2:c.3715+1G>A	1.37:g.27099479G>A		NA	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	37	CCDS44091.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619732	0.66787	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000430799	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2435	0.93893	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARID1A	26972066	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.263000	0.95617	2.791000	0.96007	0.655000	0.94253	.	ARID1A-002	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011438.2	Intron	+	ENST00000457599.2	Splice_Site	SNP	1 : 27099479 - 27099479 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	207	27
ARID1A	8289	broad.mit.edu	37	1	27099947	27099947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:27099947C>T	ENST00000457599.2	+	15	3826	c.3826C>T	c.(3826-3828)Cga>Tga	p.R1276*	ARID1A_ENST00000324856.7_Nonsense_Mutation_p.R1276*|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R893*	NM_139135.2	NP_624361.1	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1276					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.R1276*(7)|p.G1274fs*7(2)|p.M1273fs(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GATGGGACCACGACAGCACTA	0.602		NA	Mis, N, F, S, D		clear cell ovarian carcinoma, RCC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	10	Substitution - Nonsense(7)|Deletion - Frameshift(2)|Complex(1)	haematopoietic_and_lymphoid_tissue(3)|liver(3)|endometrium(2)|pancreas(2)											73	65	67			NA	NA	1		NA											NA				27099947		2203	4300	6503	SO:0001587	stop_gained			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713	8289	8289		-	11110	protein-coding gene	gene with protein product		603024	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1, AT rich interactive domain 1A (SWI- like)	C1orf4, SMARCF1	NA	9630625, 9434167	Standard	NM_139135	NM_139135	NA	Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000457599.2:c.3826C>T	1.37:g.27099947C>T	ENSP00000387636:p.Arg1276*	NA	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	37	CCDS44091.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.564494|8.564494	0.98866|0.98866	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	.|.	.|.	.|.	4.72|4.72	3.74|3.74	0.42951|0.42951	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.68650	.|0.3024	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66893	.|-0.5808	.|4	0.02654|.	T|.	1|.	-1.2857|-1.2857	14.0159|14.0159	0.64523|0.64523	0.227:0.773:0.0:0.0|0.227:0.773:0.0:0.0	.|.	.|.	.|.	.|.	X|M	1276;1276;893|172	.|.	ENSP00000320485:R1276X|.	R|T	+|+	1|2	2|0	ARID1A|ARID1A	26972534|26972534	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.516000|1.516000	0.35856|0.35856	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	CGA|ACG	ARID1A-002	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011438.2		+	ENST00000457599.2	Nonsense_Mutation	SNP	1 : 27099947 - 27099947 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	131	13
ASZ1	136991	broad.mit.edu	37	7	117008694	117008694	+	Missense_Mutation	SNP	A	A	G			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr7:117008694A>G	ENST00000284629.2	-	11	1195	c.1133T>C	c.(1132-1134)aTt>aCt	p.I378T		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	378					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TAACTCAGTAATAACATTCTG	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	107	104			NA	NA	7		NA											NA				117008694		2202	4292	6494	SO:0001583	missense			AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438	136991	136991		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	1350	protein-coding gene	gene with protein product		605797	ankyrin-like 1	C7orf7, ANKL1	NA	12040005, 11279520	Standard	NM_130768	NM_130768	NA	Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.1133T>C	7.37:g.117008694A>G	ENSP00000284629:p.Ile378Thr	NA	A0AV27|A4D0V0	37	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.166072	0.57476	.	.	ENSG00000154438	ENST00000284629	T	0.29917	1.55	5.2	5.2	0.72013	.	0.287809	0.37437	N	0.002082	T	0.39009	0.1062	L	0.56769	1.78	0.35036	D	0.759246	D;D	0.58970	0.984;0.984	P;P	0.53360	0.724;0.724	T	0.50833	-0.8781	10	0.29301	T	0.29	-0.4577	9.8129	0.40835	0.745:0.0:0.0:0.255	.	378;378	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	T	378	ENSP00000284629:I378T	ENSP00000284629:I378T	I	-	2	0	ASZ1	116795930	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	2.628000	0.46477	2.102000	0.63906	0.459000	0.35465	ATT	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000138907.7		-	ENST00000284629.2	Missense_Mutation	SNP	7 : 117008694 - 117008694 G PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	589	5
CAMK1D	57118	broad.mit.edu	37	10	12870810	12870810	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr10:12870810C>T	ENST00000378847.3	+	11	1419	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L		NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	361	Ser-rich.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TCTTCTTCGTCGGGGGTCTCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	68	69			NA	NA	10		NA											NA				12870810		2203	4300	6503	SO:0001583	missense			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049	57118	57118			19341	protein-coding gene	gene with protein product		607957			NA	11050006	Standard	NM_020397	XM_006717481	NA	Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.1082C>T	10.37:g.12870810C>T	ENSP00000368124:p.Ser361Leu	NA	B0YIY0|Q9HD31	37	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260463	0.59431	.	.	ENSG00000183049	ENST00000378847	T	0.68479	-0.33	5.39	5.39	0.77823	.	0.318671	0.30695	N	0.009065	T	0.52240	0.1722	N	0.22421	0.69	0.80722	D	1	B	0.30634	0.288	B	0.19148	0.024	T	0.54476	-0.8288	10	0.51188	T	0.08	-3.006	16.3016	0.82820	0.0:1.0:0.0:0.0	.	361	Q8IU85	KCC1D_HUMAN	L	361	ENSP00000368124:S361L	ENSP00000368124:S361L	S	+	2	0	CAMK1D	12910816	0.995000	0.38212	0.026000	0.17262	0.974000	0.67602	5.608000	0.67654	2.518000	0.84900	0.655000	0.94253	TCG	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046820.1		+	ENST00000378847.3	Missense_Mutation	SNP	10 : 12870810 - 12870810 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	544	46
CCDC8	83987	broad.mit.edu	37	19	46915715	46915715	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:46915715C>T	ENST00000307522.3	-	1	1126	c.353G>A	c.(352-354)cGc>cAc	p.R118H		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	118						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CGGGCCCTGGCGGCTCTTGTC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	58	56			NA	NA	19		NA											NA				46915715		2203	4300	6503	SO:0001583	missense			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515	83987	83987		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	25367	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 20	614145			NA	11230166	Standard	NM_032040	NM_032040	NA	Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.353G>A	19.37:g.46915715C>T	ENSP00000303158:p.Arg118His	NA	Q8TB26	37	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592819	0.28357	.	.	ENSG00000169515	ENST00000307522;ENST00000540252	T	0.13420	2.59	3.78	-7.56	0.01322	.	2.515660	0.01447	N	0.015325	T	0.06188	0.0160	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.28713	-1.0035	10	0.13108	T	0.6	.	8.1402	0.31078	0.0:0.1367:0.4249:0.4384	.	118	Q9H0W5	CCDC8_HUMAN	H	118	ENSP00000303158:R118H	ENSP00000303158:R118H	R	-	2	0	CCDC8	51607555	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-3.843000	0.00352	-1.722000	0.01377	-0.345000	0.07892	CGC	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368598.1		-	ENST00000307522.3	Missense_Mutation	SNP	19 : 46915715 - 46915715 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	605	82
CYB5R1	51706	broad.mit.edu	37	1	202935980	202935980	+	Missense_Mutation	SNP	A	A	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:202935980A>T	ENST00000367249.4	-	2	136	c.62T>A	c.(61-63)cTc>cAc	p.L21H		NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	21					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGCCAGGCCGAGCAGAGTGAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	30	29			NA	NA	1		NA											NA				202935980		2203	4300	6503	SO:0001583	missense			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	51706	51706	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	NAD(P)H:quinone oxidoreductase type 3, polypeptide A2	NQO3A2	NA	12975309, 10611283	Standard	NM_016243	NM_016243	NA	Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.62T>A	1.37:g.202935980A>T	ENSP00000356218:p.Leu21His	NA	A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	37	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423509	0.83559	.	.	ENSG00000159348	ENST00000367249	D	0.87966	-2.32	5.48	5.48	0.80851	.	0.513564	0.20313	N	0.094786	T	0.77922	0.4203	N	0.08118	0	0.45318	D	0.998319	D	0.59767	0.986	P	0.46718	0.525	T	0.76929	-0.2777	10	0.22109	T	0.4	.	13.506	0.61483	1.0:0.0:0.0:0.0	.	21	Q9UHQ9	NB5R1_HUMAN	H	21	ENSP00000356218:L21H	ENSP00000356218:L21H	L	-	2	0	CYB5R1	201202603	0.110000	0.22057	0.991000	0.47740	0.991000	0.79684	3.864000	0.56024	2.081000	0.62600	0.533000	0.62120	CTC	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099155.1		-	ENST00000367249.4	Missense_Mutation	SNP	1 : 202935980 - 202935980 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	110	9
DDX59	83479	broad.mit.edu	37	1	200613582	200613582	+	Missense_Mutation	SNP	T	T	C			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:200613582T>C	ENST00000331314.6	-	8	1873	c.1660A>G	c.(1660-1662)Aaa>Gaa	p.K554E	DDX59_ENST00000447706.2_Intron|DDX59_ENST00000367348.3_Intron	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	554	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						AAGAGTCTTTTTGAATTATTA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	128	126			NA	NA	1		NA											NA				200613582		2203	4300	6503	SO:0001583	missense			BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197	83479	83479		Zinc fingers, HIT-type, DEAD-boxes	25360	protein-coding gene	gene with protein product		615464			NA		Standard	NM_001031725.4	NM_001031725	NA	Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1660A>G	1.37:g.200613582T>C	ENSP00000330460:p.Lys554Glu	NA	Q6PJL2|Q8IVW3|Q9H0W3	37	CCDS30964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.77|19.77	3.888564|3.888564	0.72524|0.72524	.|.	.|.	ENSG00000118197|ENSG00000118197	ENST00000367346;ENST00000331314;ENST00000433235|ENST00000429498	D;T|.	0.90676|.	-2.71;3.6|.	5.5|5.5	5.5|5.5	0.81552|0.81552	Helicase, C-terminal (1);|.	0.050113|0.050113	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.50871|0.50871	0.1641|0.1641	L|L	0.28014|0.28014	0.82|0.82	0.80722|0.80722	D|D	1|1	P|.	0.51791|.	0.948|.	P|.	0.48815|.	0.591|.	T|T	0.48127|0.48127	-0.9062|-0.9062	10|6	0.07813|.	T|.	0.8|.	-28.0703|-28.0703	11.583|11.583	0.50902|0.50902	0.0:0.0:0.1489:0.851|0.0:0.0:0.1489:0.851	.|.	554|.	Q5T1V6|.	DDX59_HUMAN|.	E|R	140;554;197|131	ENSP00000330460:K554E;ENSP00000409954:K197E|.	ENSP00000330460:K554E|.	K|K	-|-	1|2	0|0	DDX59|DDX59	198880205|198880205	1.000000|1.000000	0.71417|0.71417	0.921000|0.921000	0.36526|0.36526	0.998000|0.998000	0.95712|0.95712	5.995000|5.995000	0.70631|0.70631	2.073000|2.073000	0.62155|0.62155	0.523000|0.523000	0.50628|0.50628	AAA|AAA	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086883.2		-	ENST00000331314.6	Missense_Mutation	SNP	1 : 200613582 - 200613582 C PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	431	34
DLL4	54567	broad.mit.edu	37	15	41226899	41226899	+	Missense_Mutation	SNP	A	A	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr15:41226899A>T	ENST00000249749.5	+	7	1280	c.1004A>T	c.(1003-1005)aAt>aTt	p.N335I		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	335	EGF-like 4.				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCCTGTCGCAATGGAGGCAGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	64	63			NA	NA	15		NA											NA				41226899		2200	4296	6496	SO:0001583	missense			AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917	54567	54567			2910	protein-coding gene	gene with protein product		605185	delta-like 4 homolog (Drosophila)		NA	10837024	Standard		NM_019074	NA	Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.1004A>T	15.37:g.41226899A>T	ENSP00000249749:p.Asn335Ile	NA	Q3KP23|Q9NQT9	37	CCDS45232.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.830554	0.91036	.	.	ENSG00000128917	ENST00000249749	D	0.95069	-3.6	5.97	5.97	0.96955	EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99751	1.1018	10	0.87932	D	0	.	16.4504	0.83984	1.0:0.0:0.0:0.0	.	335	Q9NR61	DLL4_HUMAN	I	335	ENSP00000249749:N335I	ENSP00000249749:N335I	N	+	2	0	DLL4	39014191	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	8.962000	0.93254	2.288000	0.76882	0.533000	0.62120	AAT	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418859.1		+	ENST00000249749.5	Missense_Mutation	SNP	15 : 41226899 - 41226899 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	203	11
DMXL2	23312	broad.mit.edu	37	15	51791633	51791633	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr15:51791633C>T	ENST00000251076.5	-	18	4075	c.3788G>A	c.(3787-3789)gGa>gAa	p.G1263E	DMXL2_ENST00000543779.2_Missense_Mutation_p.G1263E|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1263						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACAATCCATTCCTACCACCAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	175	179			NA	NA	15		NA											NA				51791633		2195	4293	6488	SO:0001583	missense			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093	23312	23312		WD repeat domain containing	2938	protein-coding gene	gene with protein product	rabconnectin 3	612186			NA		Standard	NM_015263	NM_001174116	NA	Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3788G>A	15.37:g.51791633C>T	ENSP00000251076:p.Gly1263Glu	NA	O94938	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146050	0.77888	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.42131	0.98;0.98	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.71467	-0.4584	10	0.87932	D	0	.	19.4131	0.94683	0.0:1.0:0.0:0.0	.	1263;1263	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	E	1263	ENSP00000251076:G1263E;ENSP00000441858:G1263E	ENSP00000251076:G1263E	G	-	2	0	DMXL2	49578925	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.461000	0.80834	2.588000	0.87417	0.591000	0.81541	GGA	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254671.2		-	ENST00000251076.5	Missense_Mutation	SNP	15 : 51791633 - 51791633 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	814	8
DNAH3	55567	broad.mit.edu	37	16	21082034	21082034	+	Silent	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr16:21082034G>A	ENST00000261383.3	-	22	3197	c.3198C>T	c.(3196-3198)tgC>tgT	p.C1066C	DNAH3_ENST00000415178.1_Silent_p.C1066C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1066	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCTTACCCGGCATTCTGCTT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	187	192			NA	NA	16		NA											NA				21082034		2201	4300	6501	SO:0001819	synonymous_variant			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486	55567	55567		Axonemal dyneins	2949	protein-coding gene	gene with protein product		603334	dynein, axonemal, heavy polypeptide 3		NA	9256245, 9373155	Standard	NM_017539	NM_017539	NA	Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3198C>T	16.37:g.21082034G>A		NA	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	37	CCDS10594.1																																																																																			DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207361.1		-	ENST00000261383.3	Silent	SNP	16 : 21082034 - 21082034 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	550	6
DNAH5	1767	broad.mit.edu	37	5	13811871	13811871	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:13811871G>A	ENST00000265104.4	-	44	7396	c.7292C>T	c.(7291-7293)tCt>tTt	p.S2431F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2431	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCTGGGAAAGACTCGGTGTA	0.428		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	89	90			NA	NA	5		NA											NA				13811871		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139	1767	1767		Axonemal dyneins	2950	protein-coding gene	gene with protein product	dynein heavy chain 5	603335	dynein, axonemal, heavy polypeptide 5		NA	9256245, 11788826	Standard	NM_001369	NM_001369	NA	Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7292C>T	5.37:g.13811871G>A	ENSP00000265104:p.Ser2431Phe	NA	Q92860|Q96L74|Q9H5S7|Q9HCG9	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	4.470	0.087128	0.08583	.	.	ENSG00000039139	ENST00000265104	T	0.22945	1.93	5.78	4.9	0.64082	.	0.168536	0.53938	D	0.000044	T	0.30885	0.0779	M	0.74647	2.275	0.58432	D	0.999996	B	0.06786	0.001	B	0.11329	0.006	T	0.12604	-1.0541	10	0.16896	T	0.51	.	16.0245	0.80532	0.0:0.0:0.8645:0.1355	.	2431	Q8TE73	DYH5_HUMAN	F	2431	ENSP00000265104:S2431F	ENSP00000265104:S2431F	S	-	2	0	DNAH5	13864871	1.000000	0.71417	0.799000	0.32177	0.128000	0.20619	7.880000	0.87243	1.403000	0.46800	0.650000	0.86243	TCT	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207057.2		-	ENST00000265104.4	Missense_Mutation	SNP	5 : 13811871 - 13811871 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	415	36
FAM135B	51059	broad.mit.edu	37	8	139209792	139209792	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:139209792G>A	ENST00000395297.1	-	8	960	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	264										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGGATGTCCCGCATGATCACC	0.622		NA								HNSCC(54;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	65	62			NA	NA	8		NA											NA				139209792		2139	4258	6397	SO:0001583	missense			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724	51059	51059			28029	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_015912	NM_015912	NA	Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.790C>T	8.37:g.139209792G>A	ENSP00000378710:p.Arg264Trp	NA	B5MDB3|O95879|Q2WGJ7|Q3KP46	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335664	0.60853	.	.	ENSG00000147724	ENST00000395297	T	0.79554	-1.28	4.74	0.945	0.19543	.	0.242007	0.40818	N	0.001010	T	0.73552	0.3601	L	0.44542	1.39	0.34180	D	0.670854	D	0.61697	0.99	P	0.44477	0.451	T	0.78529	-0.2169	10	0.72032	D	0.01	-13.6729	11.2554	0.49050	0.0:0.0:0.6066:0.3934	.	264	Q49AJ0	F135B_HUMAN	W	264	ENSP00000378710:R264W	ENSP00000276737:R264W	R	-	1	2	FAM135B	139278974	0.999000	0.42202	0.998000	0.56505	0.628000	0.37860	0.437000	0.21543	0.002000	0.14630	-0.309000	0.09137	CGG	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313590.3		-	ENST00000395297.1	Missense_Mutation	SNP	8 : 139209792 - 139209792 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	253	4
FAM135B	51059	broad.mit.edu	37	8	139380170	139380170	+	Missense_Mutation	SNP	A	A	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:139380170A>T	ENST00000395297.1	-	2	227	c.57T>A	c.(55-57)aaT>aaA	p.N19K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	19										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGAGATCCACATTATAAAATT	0.378		NA								HNSCC(54;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	132	134			NA	NA	8		NA											NA				139380170		1862	4104	5966	SO:0001583	missense			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724	51059	51059			28029	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_015912	NM_015912	NA	Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.57T>A	8.37:g.139380170A>T	ENSP00000378710:p.Asn19Lys	NA	B5MDB3|O95879|Q2WGJ7|Q3KP46	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982567	0.74474	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.49720	0.77	5.54	1.82	0.25136	.	0.000000	0.56097	U	0.000024	T	0.58424	0.2121	M	0.83774	2.66	0.43683	D	0.996128	D	0.59767	0.986	P	0.53266	0.722	T	0.62081	-0.6929	10	0.87932	D	0	-4.8353	8.7599	0.34667	0.7748:0.0:0.2252:0.0	.	19	Q49AJ0	F135B_HUMAN	K	19	ENSP00000378710:N19K	ENSP00000160713:N19K	N	-	3	2	FAM135B	139449352	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.914000	0.56401	0.460000	0.27045	0.459000	0.35465	AAT	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313590.3		-	ENST00000395297.1	Missense_Mutation	SNP	8 : 139380170 - 139380170 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	499	80
FBXO44	93611	broad.mit.edu	37	1	11716084	11716084	+	Silent	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:11716084C>T	ENST00000251547.5	+	2	274	c.192C>T	c.(190-192)ccC>ccT	p.P64P	FBXO44_ENST00000251546.4_Silent_p.P64P|FBXO44_ENST00000376768.1_Silent_p.P64P|FBXO44_ENST00000376770.1_Silent_p.P64P|FBXO44_ENST00000376760.1_Silent_p.P64P|FBXO44_ENST00000376762.4_Silent_p.P64P	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	64					protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GGGACCAGCCCGTGGCCGACT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	99	97			NA	NA	1		NA											NA				11716084		2203	4300	6503	SO:0001819	synonymous_variant			AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879	93611	93611		F-boxes /  other	24847	protein-coding gene	gene with protein product		609111			NA	12383498	Standard	NM_183412	XM_005263535	NA	Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.192C>T	1.37:g.11716084C>T		NA	B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	37	CCDS132.1																																																																																			FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005761.1		+	ENST00000251547.5	Silent	SNP	1 : 11716084 - 11716084 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	412	63
GRN	2896	broad.mit.edu	37	17	42428464	42428464	+	Silent	SNP	C	C	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr17:42428464C>A	ENST00000589265.1	+	6	499				GRN_ENST00000053867.3_Silent_p.I256I|GRN_ENST00000589923.1_3'UTR			P28799	GRN_HUMAN	granulin	NA					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GTGACCTGATCCAGAGTAAGT	0.607		NA									OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	102	105			NA	NA	17		NA											NA				42428464		2203	4300	6503	SO:0001627	intron_variant			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582	2896	2896			4601	protein-coding gene	gene with protein product	progranulin	138945			NA	1417868, 9826678	Standard	NM_002087	XM_005257253	NA	Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000589265.1:c.463-454C>A	17.37:g.42428464C>A		908	D3DX55|P23781|P23782|P23783|P23784|Q53Y88|Q540U8|Q9BWE7|Q9UCH0	37																																																																																				GRN-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000457775.1		+	ENST00000589265.1	Intron	SNP	17 : 42428464 - 42428464 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	318	6
HNF4G	3174	broad.mit.edu	37	8	76459877	76459877	+	Silent	SNP	C	C	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:76459877C>A	ENST00000396423.2	+	3	437	c.313C>A	c.(313-315)Cga>Aga	p.R105R	HNF4G_ENST00000354370.1_Silent_p.R68R	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	68					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TAGATATTGTCGATTAAGAAA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	136	135			NA	NA	8		NA											NA				76459877		2203	4299	6502	SO:0001819	synonymous_variant				CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749	3174	3174		Nuclear hormone receptors	5026	protein-coding gene	gene with protein product		605966			NA	8622695, 12220494	Standard	NM_004133	NM_004133	NA	Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000396423.2:c.313C>A	8.37:g.76459877C>A		NA	Q7Z2V9|Q9UH81|Q9UIS6	37	CCDS6220.2																																																																																			HNF4G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313913.1		+	ENST00000396423.2	Silent	SNP	8 : 76459877 - 76459877 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	529	5
HOXB3	3213	broad.mit.edu	37	17	46627995	46627995	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr17:46627995C>T	ENST00000489475.1	-	5	1479	c.778G>A	c.(778-780)Gtc>Atc	p.V260I	HOXB3_ENST00000460160.1_Missense_Mutation_p.V201I|HOXB3_ENST00000476342.1_Missense_Mutation_p.V333I|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000470495.1_Missense_Mutation_p.V333I|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.V260I|HOXB3_ENST00000490677.1_Missense_Mutation_p.V199I|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.V201I|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.V333I|HOXB3_ENST00000311626.4_Missense_Mutation_p.V333I			P14651	HXB3_HUMAN	homeobox B3	333					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GCTTGGAGGACGTGCGGCTCA	0.721		NA									OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	27	25			NA	NA	17		NA											NA				46627995		2194	4287	6481	SO:0001583	missense				CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093	3213	3213		Homeoboxes / ANTP class : HOXL subclass	5114	protein-coding gene	gene with protein product		142966	homeo box B3	HOX2, HOX2G	NA	1973146, 1358459	Standard		XM_006721854	NA	Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000489475.1:c.778G>A	17.37:g.46627995C>T	ENSP00000418729:p.Val260Ile	940	A8K567|D3DTV3|O95615|P17484	37		.	.	.	.	.	.	.	.	.	.	C	10.43	1.348351	0.24426	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	D;D;D;D;D;D;D;D;D	0.90844	-2.66;-2.63;-2.66;-2.66;-2.74;-2.74;-2.74;-2.63;-2.66	3.8	2.83	0.33086	.	0.243879	0.32671	N	0.005796	D	0.83815	0.5336	L	0.38175	1.15	0.80722	D	1	B	0.12013	0.005	B	0.04013	0.001	T	0.77653	-0.2507	10	0.37606	T	0.19	.	9.3477	0.38118	0.0:0.8227:0.0:0.1773	.	333	P14651	HXB3_HUMAN	I	333;260;333;333;199;201;201;260;333	ENSP00000417207:V333I;ENSP00000419676:V260I;ENSP00000308252:V333I;ENSP00000420595:V333I;ENSP00000449977:V199I;ENSP00000418035:V201I;ENSP00000438747:V201I;ENSP00000418729:V260I;ENSP00000418892:V333I	ENSP00000308252:V333I	V	-	1	0	HOXB3	43982994	0.002000	0.14202	1.000000	0.80357	0.921000	0.55340	-0.007000	0.12810	0.950000	0.37743	-0.448000	0.05591	GTC	HOXB3-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358265.1		-	ENST00000489475.1	Missense_Mutation	SNP	17 : 46627995 - 46627995 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	275	23
IQCD	115811	broad.mit.edu	37	12	113645289	113645289	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:113645289G>A	ENST00000546692.1	-	2	1056	c.683C>T	c.(682-684)aCt>aTt	p.T228I	IQCD_ENST00000416617.2_Missense_Mutation_p.T228I|IQCD_ENST00000299732.2_Missense_Mutation_p.T228I			Q96DY2	IQCD_HUMAN	IQ motif containing D	228										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTTTTCAAGAGTATCAATGAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	99	100			NA	NA	12		NA											NA				113645289		2203	4300	6503	SO:0001583	missense			BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578	115811	115811			25168	protein-coding gene	gene with protein product	dynein regulatory complex subunit 10				NA	23427265, 24804578	Standard	NM_138451	NM_138451	NA	Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000546692.1:c.683C>T	12.37:g.113645289G>A	ENSP00000446623:p.Thr228Ile	NA	Q6ZSU0	37		.	.	.	.	.	.	.	.	.	.	G	9.256	1.041929	0.19748	.	.	ENSG00000166578	ENST00000299732;ENST00000416617;ENST00000546692;ENST00000392574	T;T;T	0.23147	2.85;2.85;1.92	5.25	-1.09	0.09904	.	1.285360	0.05512	N	0.560377	T	0.22704	0.0548	L	0.56769	1.78	0.09310	N	1	B;B	0.21147	0.052;0.002	B;B	0.15052	0.012;0.007	T	0.33059	-0.9883	10	0.46703	T	0.11	2.6825	2.9086	0.05730	0.1569:0.0995:0.418:0.3256	.	228;228	F8VZV9;Q96DY2-2	.;.	I	228	ENSP00000299732:T228I;ENSP00000400669:T228I;ENSP00000446623:T228I	ENSP00000299732:T228I	T	-	2	0	IQCD	112129672	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.233000	0.17911	-0.073000	0.12842	0.563000	0.77884	ACT	IQCD-002	PUTATIVE	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000405328.1		-	ENST00000546692.1	Missense_Mutation	SNP	12 : 113645289 - 113645289 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	765	112
KCNK3	3777	broad.mit.edu	37	2	26950912	26950912	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:26950912G>A	ENST00000302909.3	+	2	786	c.661G>A	c.(661-663)Gtg>Atg	p.V221M		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	221					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGCAGTACGTGGCCTTCAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(80;1457 1631 27100 45946)							NA				0													85	66	73			NA	NA	2		NA											NA				26950912		2203	4300	6503	SO:0001583	missense			AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303	3777	3777		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6278	protein-coding gene	gene with protein product		603220			NA	9312005, 9721223, 16382106	Standard	NM_002246	NM_002246	NA	Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.661G>A	2.37:g.26950912G>A	ENSP00000306275:p.Val221Met	NA	Q53SU2	37	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236658	0.79800	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.28895	1.59	4.72	4.72	0.59763	Ion transport 2 (1);	0.206931	0.40818	N	0.001017	T	0.52092	0.1713	L	0.59967	1.855	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.55471	-0.8136	10	0.87932	D	0	.	15.5289	0.75936	0.0:0.0:1.0:0.0	.	221	O14649	KCNK3_HUMAN	M	98;221	ENSP00000306275:V221M	ENSP00000306275:V221M	V	+	1	0	KCNK3	26804416	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.638000	0.98445	2.303000	0.77524	0.556000	0.70494	GTG	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246861.2		+	ENST00000302909.3	Missense_Mutation	SNP	2 : 26950912 - 26950912 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	149	22
KLHDC8A	55220	broad.mit.edu	37	1	205312564	205312564	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:205312564C>T	ENST00000367156.3	-	5	985	c.169G>A	c.(169-171)Gac>Aac	p.D57N	KLHDC8A_ENST00000539253.1_Missense_Mutation_p.D57N|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.D57N|KLHDC8A_ENST00000460687.1_Intron	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	57										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTCCACTGGTCGGCCTCCGGG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	42	42			NA	NA	1		NA											NA				205312564		2202	4299	6501	SO:0001583	missense				CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873	55220	55220			25573	protein-coding gene	gene with protein product		614503			NA		Standard	NM_018203	NM_018203	NA	Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.169G>A	1.37:g.205312564C>T	ENSP00000356124:p.Asp57Asn	NA	B3KU70|Q9NVG5	37	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041237	0.55003	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253	T;T;T	0.73789	-0.78;-0.78;-0.78	5.55	5.55	0.83447	Kelch-type beta propeller (1);	0.048810	0.85682	D	0.000000	T	0.53367	0.1792	N	0.25144	0.715	0.45690	D	0.998606	B	0.25809	0.135	B	0.18561	0.022	T	0.51148	-0.8742	10	0.02654	T	1	-33.1818	9.7742	0.40609	0.0:0.8459:0.0:0.1541	.	57	Q8IYD2	KLD8A_HUMAN	N	57	ENSP00000356123:D57N;ENSP00000356124:D57N;ENSP00000442229:D57N	ENSP00000356123:D57N	D	-	1	0	KLHDC8A	203579187	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.678000	0.46900	2.590000	0.87494	0.655000	0.94253	GAC	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090397.1		-	ENST00000367156.3	Missense_Mutation	SNP	1 : 205312564 - 205312564 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	266	24
KMT2D	8085	broad.mit.edu	37	12	49434081	49434082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:49434081_49434082insC	ENST00000301067.7	-	31	7470_7471	c.7471_7472insG	c.(7471-7473)gctfs	p.A2491fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						GAACCCCCCAGCCCCCAGCGAA	0.658		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548	8085	8085		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	7133	protein-coding gene	gene with protein product		602113	trinucleotide repeat containing 21, myeloid/lymphoid or mixed-lineage leukemia 2	TNRC21, MLL2	NA	9247308	Standard		NM_003482	NA	Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7472dupG	12.37:g.49434086_49434086dupC	ENSP00000301067:p.Ala2491fs	NA		37	CCDS44873.1																																																																																			KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390183.2		-	ENST00000301067.7	Frame_Shift_Ins	INS	12 : 49434081 - 49434082 C PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	237	47
KMT2D	8085	broad.mit.edu	37	12	49433687	49433687	+	Silent	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:49433687G>A	ENST00000301067.7	-	31	7865	c.7866C>T	c.(7864-7866)gaC>gaT	p.D2622D		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						GGAGGGATCCGTCGGGTGCAG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	46	44			NA	NA	12		NA											NA				49433687		2027	4183	6210	SO:0001819	synonymous_variant			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548	8085	8085		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	7133	protein-coding gene	gene with protein product		602113	trinucleotide repeat containing 21, myeloid/lymphoid or mixed-lineage leukemia 2	TNRC21, MLL2	NA	9247308	Standard		NM_003482	NA	Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7866C>T	12.37:g.49433687G>A		NA		37	CCDS44873.1																																																																																			KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390183.2		-	ENST00000301067.7	Silent	SNP	12 : 49433687 - 49433687 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	197	16
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	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-A7TX-Tumor-SM-5W7V8	390	63
LTBP2	4053	broad.mit.edu	37	14	74968210	74968210	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr14:74968210G>A	ENST00000556690.1	-	34	5249	c.5122C>T	c.(5122-5124)Cgg>Tgg	p.R1708W	LTBP2_ENST00000261978.4_Missense_Mutation_p.R1752W			Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1752					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TAGCCCTCCCGCACGCGCACA	0.622		NA									OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	84	85			NA	NA	14		NA											NA				74968210		2203	4300	6503	SO:0001583	missense				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681	4053	4053		Latent transforming growth factor, beta binding proteins	6715	protein-coding gene	gene with protein product		602091	chromosome 14 open reading frame 141	LTBP3, C14orf141	NA	7798248	Standard	NM_000428	NM_000428	NA	Approved		uc001xqa.3	Q14767		ENST00000556690.1:c.5122C>T	14.37:g.74968210G>A	ENSP00000451477:p.Arg1708Trp	1156	Q99907|Q9NS51	37		.	.	.	.	.	.	.	.	.	.	G	19.23	3.786592	0.70337	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.92699	-3.09;-3.09	5.25	2.23	0.28157	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.470600	0.16123	N	0.228535	D	0.92143	0.7509	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.68192	0.956	D	0.84993	0.0895	10	0.66056	D	0.02	.	11.6308	0.51173	0.0:0.1212:0.6393:0.2395	.	1752	Q14767	LTBP2_HUMAN	W	1752;1708	ENSP00000261978:R1752W;ENSP00000451477:R1708W	ENSP00000261978:R1752W	R	-	1	2	LTBP2	74037963	0.860000	0.29831	0.786000	0.31890	0.986000	0.74619	1.961000	0.40432	0.740000	0.32651	-0.188000	0.12872	CGG	LTBP2-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000413598.1		-	ENST00000556690.1	Missense_Mutation	SNP	14 : 74968210 - 74968210 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	506	80
MAPT	4137	broad.mit.edu	37	17	44060673	44060673	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr17:44060673G>A	ENST00000415613.2	+	5	503	c.503G>A	c.(502-504)cGc>cAc	p.R168H	MAPT_ENST00000571987.1_Missense_Mutation_p.R168H|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.R168H|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000344290.5_Missense_Mutation_p.R168H|MAPT_ENST00000420682.2_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	168					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GAGGCCACACGCCAACCTTCG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	15	14			NA	NA	17		NA											NA				44060673		2196	4288	6484	SO:0001583	missense			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868	4137	4137			6893	protein-coding gene	gene with protein product	G protein beta1/gamma2 subunit-interacting factor 1, microtubule-associated protein tau, isoform 4, protein phosphatase 1, regulatory subunit 103	157140		DDPAC, MAPTL	NA	7936241, 3131773	Standard	NM_016835	NM_001123067	NA	Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000415613.2:c.503G>A	17.37:g.44060673G>A	ENSP00000410838:p.Arg168His	NA	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	37	CCDS45715.1	.	.	.	.	.	.	.	.	.	.	G	9.502	1.103437	0.20632	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	T;T;T	0.10099	2.91;2.91;2.91	4.03	-7.22	0.01485	.	2.448770	0.01389	N	0.013192	T	0.02380	0.0073	N	0.00538	-1.39	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.39354	-0.9618	10	0.31617	T	0.26	4.9526	2.1491	0.03795	0.3493:0.1391:0.3754:0.1362	.	168;168	P10636-9;P10636	.;TAU_HUMAN	H	168	ENSP00000340820:R168H;ENSP00000262410:R168H;ENSP00000410838:R168H	ENSP00000262410:R168H	R	+	2	0	MAPT	41416510	0.000000	0.05858	0.000000	0.03702	0.316000	0.28119	-1.116000	0.03286	-1.431000	0.01982	-0.459000	0.05422	CGC	MAPT-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401265.1		+	ENST00000415613.2	Missense_Mutation	SNP	17 : 44060673 - 44060673 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	64	14
MBD5	55777	broad.mit.edu	37	2	149227347	149227347	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:149227347G>A	ENST00000407073.1	+	9	2832	c.1835G>A	c.(1834-1836)gGc>gAc	p.G612D	MBD5_ENST00000404807.1_Missense_Mutation_p.G612D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	612						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCCGGCAGTGGCAACACTGAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	115	118			NA	NA	2		NA											NA				149227347		2203	4300	6503	SO:0001583	missense			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406	NA	55777			20444	protein-coding gene	gene with protein product		611472			NA	12529184	Standard		NM_018328	NA	Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.1835G>A	2.37:g.149227347G>A	ENSP00000386049:p.Gly612Asp	NA	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	37	CCDS33302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.25|16.25	3.069142|3.069142	0.55539|0.55539	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000416015|ENST00000407073;ENST00000404807	.|T;T	.|0.49432	.|0.79;0.78	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.64402	.|D	.|0.000019	T|T	0.50222|0.50222	0.1603|0.1603	N|N	0.24115|0.24115	0.695|0.695	0.50039|0.50039	D|D	0.999846|0.999846	.|D;D	.|0.55172	.|0.97;0.969	.|P;P	.|0.57324	.|0.818;0.785	T|T	0.48559|0.48559	-0.9025|-0.9025	5|10	.|0.42905	.|T	.|0.14	-4.4542|-4.4542	16.6845|16.6845	0.85301|0.85301	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|612;612	.|Q9P267-2;Q9P267	.|.;MBD5_HUMAN	T|D	352|612	.|ENSP00000386049:G612D;ENSP00000384672:G612D	.|ENSP00000384672:G612D	A|G	+|+	1|2	0|0	MBD5|MBD5	148943817|148943817	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.955000|6.955000	0.76007|0.76007	2.680000|2.680000	0.91292|0.91292	0.655000|0.655000	0.94253|0.94253	GCA|GGC	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318111.2		+	ENST00000407073.1	Missense_Mutation	SNP	2 : 149227347 - 149227347 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	550	6
MTNR1B	4544	broad.mit.edu	37	11	92715454	92715454	+	Silent	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:92715454G>A	ENST00000257068.2	+	2	1071	c.1065G>A	c.(1063-1065)gtG>gtA	p.V355V		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	355					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TCATTGGTGTGCAGCACCAGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	44	43			NA	NA	11		NA											NA				92715454		2201	4298	6499	SO:0001819	synonymous_variant			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640	4544	4544		GPCR / Class A : Melatonin receptors	7464	protein-coding gene	gene with protein product		600804			NA		Standard		NM_005959	NA	Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.1065G>A	11.37:g.92715454G>A		NA		37	CCDS8290.1																																																																																			MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394323.1		+	ENST00000257068.2	Silent	SNP	11 : 92715454 - 92715454 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	330	53
MTNR1B	4544	broad.mit.edu	37	11	92715455	92715455	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:92715455C>T	ENST00000257068.2	+	2	1072	c.1066C>T	c.(1066-1068)Cag>Tag	p.Q356*		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	356					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CATTGGTGTGCAGCACCAGGC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	43	42			NA	NA	11		NA											NA				92715455		2201	4298	6499	SO:0001587	stop_gained			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640	4544	4544		GPCR / Class A : Melatonin receptors	7464	protein-coding gene	gene with protein product		600804			NA		Standard		NM_005959	NA	Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.1066C>T	11.37:g.92715455C>T	ENSP00000257068:p.Gln356*	NA		37	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.057149	0.55325	.	.	ENSG00000134640	ENST00000257068	.	.	.	4.33	1.14	0.20703	.	0.742407	0.11795	N	0.528738	.	.	.	.	.	.	0.22903	N	0.998589	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	0.0638	5.3884	0.16229	0.3637:0.5314:0.0:0.1049	.	.	.	.	X	356	.	ENSP00000257068:Q356X	Q	+	1	0	MTNR1B	92355103	0.000000	0.05858	0.000000	0.03702	0.501000	0.33797	0.212000	0.17497	0.328000	0.23435	0.313000	0.20887	CAG	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394323.1		+	ENST00000257068.2	Nonsense_Mutation	SNP	11 : 92715455 - 92715455 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	325	54
MYO7B	4648	broad.mit.edu	37	2	128354060	128354060	+	Silent	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:128354060G>A	ENST00000409816.2	+	18	2300	c.2268G>A	c.(2266-2268)gaG>gaA	p.E756E	MYO7B_ENST00000428314.1_Silent_p.E756E|MYO7B_ENST00000389524.4_Silent_p.E756E			Q6PIF6	MYO7B_HUMAN	myosin VIIB	756	IQ 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTCTGCTGGAGGTACAGAGAA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	49	48			NA	NA	2		NA											NA				128354060		1964	4165	6129	SO:0001819	synonymous_variant				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994	4648	4648		Myosins / Myosin superfamily : Class VII	7607	protein-coding gene	gene with protein product		606541			NA	8022818, 8884266	Standard	XM_291001	NM_001080527	NA	Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2268G>A	2.37:g.128354060G>A		NA	Q14786|Q8TEE1	37	CCDS46405.1																																																																																			MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331124.3		+	ENST00000409816.2	Silent	SNP	2 : 128354060 - 128354060 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	79	4
NPAT	4863	broad.mit.edu	37	11	108040579	108040579	+	Splice_Site	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:108040579C>T	ENST00000278612.8	-	15	3007	c.2902G>A	c.(2902-2904)Gtt>Att	p.V968I		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	968					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ATATGAAGAACCTGGAAGAGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	115	118			NA	NA	11		NA											NA				108040579		1851	4092	5943	SO:0001630	splice_region_variant			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308	4863	4863			7896	protein-coding gene	gene with protein product		601448			NA	9205109	Standard	NM_002519	NM_002519	NA	Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2902-1G>A	11.37:g.108040579C>T		NA	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	37	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568083	0.45798	.	.	ENSG00000149308	ENST00000278612	T	0.04758	3.56	5.39	4.48	0.54585	.	0.154045	0.43747	D	0.000523	T	0.07007	0.0178	M	0.66939	2.045	0.44890	D	0.997906	B	0.19583	0.037	B	0.19148	0.024	T	0.13791	-1.0496	10	0.33141	T	0.24	-6.2259	8.9418	0.35733	0.0:0.7759:0.0:0.2241	.	968	Q14207	NPAT_HUMAN	I	968	ENSP00000278612:V968I	ENSP00000278612:V968I	V	-	1	0	NPAT	107545789	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	1.857000	0.39399	1.408000	0.46895	-0.237000	0.12165	GTT	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389506.2	Missense_Mutation	-	ENST00000278612.8	Splice_Site	SNP	11 : 108040579 - 108040579 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	512	43
NUDT6	11162	broad.mit.edu	37	4	123843664	123843664	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:123843664G>T	ENST00000304430.5	-	1	97	c.64C>A	c.(64-66)Cct>Act	p.P22T	NUDT6_ENST00000339154.2_Intron	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	22						mitochondrion|nucleus	growth factor activity|hydrolase activity			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						CCCGCCGAAGGCCCGGGGCCG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	18	17			NA	NA	4		NA											NA				123843664		1883	4051	5934	SO:0001583	missense			AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917	11162	11162		Nudix motif containing	8053	protein-coding gene	gene with protein product		606261			NA	7984147, 10022609	Standard	NM_007083	NM_198041	NA	Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.64C>A	4.37:g.123843664G>T	ENSP00000306070:p.Pro22Thr	NA	A8K756|O95097|Q9UQD9	37	CCDS43268.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689167	0.29962	.	.	ENSG00000170917	ENST00000304430	T	0.21543	2.0	3.97	0.0578	0.14325	.	1.142310	0.06669	N	0.765837	T	0.09598	0.0236	N	0.08118	0	0.09310	N	0.999995	B	0.11235	0.004	B	0.09377	0.004	T	0.36212	-0.9757	10	0.23891	T	0.37	-1.8931	4.3631	0.11211	0.3094:0.1653:0.5254:0.0	.	22	P53370	NUDT6_HUMAN	T	22	ENSP00000306070:P22T	ENSP00000306070:P22T	P	-	1	0	NUDT6	124063114	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.055000	0.11807	-0.141000	0.11374	-0.467000	0.05162	CCT	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095331.3		-	ENST00000304430.5	Missense_Mutation	SNP	4 : 123843664 - 123843664 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	95	14
NWD1	284434	broad.mit.edu	37	19	16860012	16860012	+	Missense_Mutation	SNP	G	G	A	rs142661674		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:16860012G>A	ENST00000524140.2	+	6	977	c.559G>A	c.(559-561)Gtc>Atc	p.V187I	NWD1_ENST00000523826.1_5'UTR|NWD1_ENST00000339803.6_Missense_Mutation_p.V52I|NWD1_ENST00000549814.1_Missense_Mutation_p.V187I|NWD1_ENST00000552788.1_Missense_Mutation_p.V187I|NWD1_ENST00000379808.3_Missense_Mutation_p.V187I	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	187							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGAGCCACCGTCTTCCTTAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/VAL	1,4405		0,1,2202	80	62	68		559	-1.6	0	19	dbSNP_134	68	0,8600		0,0,4300	no	missense	NWD1	NM_001007525.3	29	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	187/1433	16860012	1,13005	2203	4300	6503	SO:0001583	missense			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039	284434	284434		WD repeat domain containing	27619	protein-coding gene	gene with protein product					NA		Standard	NM_001007525	NM_001007525	NA	Approved		uc002neu.4	Q149M9		ENST00000524140.2:c.559G>A	19.37:g.16860012G>A	ENSP00000428579:p.Val187Ile	NA	C9J021|Q68CT3	37	CCDS32945.2	.	.	.	.	.	.	.	.	.	.	N	0.072	-1.200132	0.01581	2.27E-4	0.0	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000552788;ENST00000339803	T;T;T;T;T	0.56941	1.77;1.77;1.77;1.77;0.43	4.45	-1.62	0.08372	.	0.464471	0.20800	N	0.085444	T	0.32406	0.0828	L	0.42686	1.345	0.22066	N	0.999385	B;B	0.18013	0.025;0.006	B;B	0.12837	0.008;0.003	T	0.34378	-0.9831	10	0.05351	T	0.99	-15.3841	7.6641	0.28421	0.4955:0.0:0.5045:0.0	.	187;52	Q149M9-3;C9J2Y8	.;.	I	52;187;187;187;187;52	ENSP00000428579:V187I;ENSP00000447548:V187I;ENSP00000369136:V187I;ENSP00000447224:V187I;ENSP00000340159:V52I	ENSP00000340159:V52I	V	+	1	0	NWD1	16721012	0.001000	0.12720	0.004000	0.12327	0.013000	0.08279	-0.267000	0.08619	0.027000	0.15297	-0.497000	0.04613	GTC	NWD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379040.3		+	ENST00000524140.2	Missense_Mutation	SNP	19 : 16860012 - 16860012 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	231	5
OC90	729330	broad.mit.edu	37	8	133048648	133048648	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:133048648delC	ENST00000262283.5	-	13	1384	c.1285delG	c.(1285-1287)gctfs	p.A429fs	OC90_ENST00000443356.2_Frame_Shift_Del_p.A233fs|OC90_ENST00000603859.1_Intron|OC90_ENST00000254627.3_Intron			Q02509	OC90_HUMAN	otoconin 90	233	Phospholipase A2-like 3.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGTCTGTCAGCCTCAGTCTCT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	106	108			NA	NA	8		NA											NA				133048648		1900	4133	6033	SO:0001589	frameshift_variant			Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117	729330	729330			8100	protein-coding gene	gene with protein product		601658		PLA2L	NA	10329003, 9860971	Standard	NM_001080399	NM_001080399	NA	Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000262283.5:c.1285delG	8.37:g.133048648delC	ENSP00000262283:p.Ala429fs	NA	B4DNG8	37																																																																																				OC90-001	NOVEL	basic|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000410190.1		-	ENST00000262283.5	Frame_Shift_Del	DEL	8 : 133048648 - 133048648 - PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	527	110
OR13C2	392376	broad.mit.edu	37	9	107367884	107367884	+	Missense_Mutation	SNP	G	G	C			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr9:107367884G>C	ENST00000542196.1	-	1	67	c.25C>G	c.(25-27)Ctg>Gtg	p.L9V		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L9V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AATTCCACCAGAATGGTGTGG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	cervix(1)											47	52	50			NA	NA	9		NA											NA				107367884		2195	4299	6494	SO:0001583	missense				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119	392376	392376		GPCR / Class A : Olfactory receptors	14701	protein-coding gene	gene with protein product					NA		Standard	NM_001004481	NM_001004481	NA	Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.25C>G	9.37:g.107367884G>C	ENSP00000438815:p.Leu9Val	NA	B9EGV8|Q6IF54	37	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.111042	0.00353	.	.	ENSG00000257019	ENST00000542196	T	0.00299	8.22	3.39	-1.19	0.09585	.	0.313759	0.16689	U	0.203629	T	0.00039	0.0001	N	0.00081	-2.22	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47114	-0.9142	10	0.02654	T	1	.	0.7009	0.00908	0.3362:0.1654:0.331:0.1674	.	9	Q8NGS9	O13C2_HUMAN	V	9	ENSP00000438815:L9V	ENSP00000438815:L9V	L	-	1	2	OR13C2	106407705	0.000000	0.05858	0.093000	0.20910	0.892000	0.51952	-2.895000	0.00707	-0.123000	0.11745	-0.379000	0.06801	CTG	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053489.2		-	ENST00000542196.1	Missense_Mutation	SNP	9 : 107367884 - 107367884 C PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	522	30
PCDHGA2	56113	broad.mit.edu	37	5	140720414	140720414	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:140720414G>A	ENST00000394576.2	+	1	1876	c.1876G>A	c.(1876-1878)Gtg>Atg	p.V626M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1			protocadherin gamma subfamily A, 2	NA								p.V626L(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGGCGAGGTGCGCACGGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											35	42	40			NA	NA	5		NA											NA				140720414		2194	4286	6480	SO:0001583	missense			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853	56113	56113		Cadherins / Protocadherins : Clustered	8700	other	protocadherin		606289			NA	10380929	Standard	NM_018915	NM_018915	NA	Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1876G>A	5.37:g.140720414G>A	ENSP00000378077:p.Val626Met	NA		37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	12.96	2.094710	0.36952	.	.	ENSG00000081853	ENST00000394576	T	0.55930	0.49	5.14	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.553780	0.13797	U	0.362080	T	0.64724	0.2624	M	0.65677	2.01	0.25520	N	0.987372	D;D	0.76494	0.99;0.999	D;D	0.72338	0.923;0.977	T	0.52578	-0.8557	10	0.87932	D	0	.	4.7999	0.13292	0.2293:0.1939:0.5767:0.0	.	626;626	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	M	626	ENSP00000378077:V626M	ENSP00000378077:V626M	V	+	1	0	PCDHGA2	140700598	1.000000	0.71417	0.998000	0.56505	0.098000	0.18820	2.136000	0.42121	1.315000	0.45114	0.485000	0.47835	GTG	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374738.1		+	ENST00000394576.2	Missense_Mutation	SNP	5 : 140720414 - 140720414 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	607	92
PLEKHH2	130271	broad.mit.edu	37	2	43958705	43958705	+	Silent	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:43958705C>T	ENST00000282406.4	+	19	3017	c.2907C>T	c.(2905-2907)tcC>tcT	p.S969S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	969	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTCTACCTTCCGAAGCCCTGC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	84	84	84		2907	-10.6	0.7	2		84	0,8600		0,0,4300	no	coding-synonymous	PLEKHH2	NM_172069.3		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		969/1494	43958705	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527	130271	130271		Pleckstrin homology (PH) domain containing	30506	protein-coding gene	gene with protein product		612723			NA		Standard	NM_172069	NM_172069	NA	Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2907C>T	2.37:g.43958705C>T		NA	Q5JPJ6|Q6P4Q1|Q8N3Q3	37	CCDS1812.1																																																																																			PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250537.1		+	ENST00000282406.4	Silent	SNP	2 : 43958705 - 43958705 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	392	29
PSMA6	5687	broad.mit.edu	37	14	35761738	35761738	+	Missense_Mutation	SNP	A	A	G			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr14:35761738A>G	ENST00000261479.4	+	1	176	c.56A>G	c.(55-57)gAg>gGg	p.E19G	PSMA6_ENST00000555764.1_5'UTR|KIAA0391_ENST00000557565.1_Intron|PSMA6_ENST00000540871.1_Intron|PSMA6_ENST00000556506.1_Missense_Mutation_p.E19G|PSMA6_ENST00000553809.1_Missense_Mutation_p.E19G	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		TTTTCACCCGAGGGTCGGCTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	96	98			NA	NA	14		NA											NA				35761738		2203	4300	6503	SO:0001583	missense			X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902	5687	5687		Proteasome (prosome, macropain) subunits	9535	protein-coding gene	gene with protein product		602855			NA	1888762, 8811196	Standard		NM_002791	NA	Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.56A>G	14.37:g.35761738A>G	ENSP00000261479:p.Glu19Gly	NA	B2R7J9|P34062|Q6IB60	37	CCDS9655.1	.	.	.	.	.	.	.	.	.	.	A	34	5.412570	0.96072	.	.	ENSG00000100902	ENST00000261479;ENST00000553809;ENST00000556506	T;T;T	0.51325	0.71;0.71;0.71	5.87	5.87	0.94306	Proteasome, alpha-subunit, conserved site (3);	0.000000	0.85682	D	0.000000	T	0.75421	0.3847	H	0.95574	3.69	0.80722	D	1	D	0.57257	0.979	P	0.60541	0.876	T	0.83320	-0.0018	10	0.87932	D	0	-31.8945	14.4865	0.67622	1.0:0.0:0.0:0.0	.	19	P60900	PSA6_HUMAN	G	19	ENSP00000261479:E19G;ENSP00000452603:E19G;ENSP00000450528:E19G	ENSP00000261479:E19G	E	+	2	0	PSMA6	34831489	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.288000	0.78691	2.242000	0.73789	0.482000	0.46254	GAG	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276684.1		+	ENST00000261479.4	Missense_Mutation	SNP	14 : 35761738 - 35761738 G PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	456	6
QARS	5859	broad.mit.edu	37	3	49137511	49137511	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr3:49137511C>T	ENST00000306125.6	-	14	1515	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D	QARS_ENST00000414533.1_Missense_Mutation_p.G382D			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	393					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TGAAAACTTGCCCTTGCGCAT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	134	138			NA	NA	3		NA											NA				49137511		2203	4300	6503	SO:0001583	missense			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	5859	5859	6.1.1.18	Aminoacyl tRNA synthetases / Class I	9751	protein-coding gene	gene with protein product	glutamine tRNA ligase	603727			NA	8078941, 10393422	Standard	NM_005051	NM_005051	NA	Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1178G>A	3.37:g.49137511C>T	ENSP00000307567:p.Gly393Asp	NA		37	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839609	0.91117	.	.	ENSG00000172053	ENST00000306125;ENST00000414533	T;T	0.25414	1.8;1.8	5.98	5.98	0.97165	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	H	0.98068	4.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81055	-0.1106	10	0.87932	D	0	-20.433	20.0397	0.97574	0.0:1.0:0.0:0.0	.	382;393	B4DWJ2;P47897	.;SYQ_HUMAN	D	393;382	ENSP00000307567:G393D;ENSP00000390015:G382D	ENSP00000307567:G393D	G	-	2	0	QARS	49112515	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.316000	0.79007	2.833000	0.97629	0.655000	0.94253	GGC	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345689.2		-	ENST00000306125.6	Missense_Mutation	SNP	3 : 49137511 - 49137511 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	312	5
RFX7	64864	broad.mit.edu	37	15	56535410	56535410	+	Missense_Mutation	SNP	T	T	C			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr15:56535410T>C	ENST00000559447.2	-	0	54				RFX7_ENST00000422057.1_5'UTR|RFX7_ENST00000423270.1_Missense_Mutation_p.N25S|RFX7_ENST00000317318.6_Missense_Mutation_p.N25S			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	NA					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CACCCCCGAGTTGGGGGCGCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	12	11			NA	NA	15		NA											NA				56535410		1909	4106	6015	SO:0001623	5_prime_UTR_variant					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827	64864	64864			25777	protein-coding gene	gene with protein product		612660	regulatory factor X domain containing 2	RFXDC2	NA		Standard	NM_022841	NM_022841	NA	Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.-218A>G	15.37:g.56535410T>C		NA	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	37		.	.	.	.	.	.	.	.	.	.	T	10.81	1.456433	0.26161	.	.	ENSG00000181827	ENST00000317318;ENST00000423270	T;T	0.50001	0.76;0.76	3.0	0.546	0.17196	.	.	.	.	.	T	0.30727	0.0774	.	.	.	0.25825	N	0.984237	.	.	.	.	.	.	T	0.23511	-1.0186	6	0.31617	T	0.26	.	1.6971	0.02864	0.2693:0.2644:0.0:0.4663	.	.	.	.	S	25	ENSP00000313299:N25S;ENSP00000397644:N25S	ENSP00000313299:N25S	N	-	2	0	RFX7	54322702	0.761000	0.28439	0.997000	0.53966	0.994000	0.84299	0.111000	0.15458	0.339000	0.23719	0.377000	0.23210	AAC	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	NA	protein_coding	OTTHUMT00000418841.3		-	ENST00000559447.2	5'UTR	SNP	15 : 56535410 - 56535410 C PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	58	7
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr9:137328351C>T	ENST00000481739.1	+	10	1332	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Missense_Mutation_p.S330F	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	117	122			NA	NA	9		NA											NA				137328351		2203	4300	6503	SO:0001583	missense			X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350	6256	6256		Nuclear hormone receptors	10477	protein-coding gene	gene with protein product	nuclear receptor subfamily 2 group B member 1	180245			NA	2159111	Standard	NM_002957	XM_005263409	NA	Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1280C>T	9.37:g.137328351C>T	ENSP00000419692:p.Ser427Phe	NA	Q2NL52|Q2V504	37	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825420	0.90955	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.96940	-4.18;-4.18	4.76	4.76	0.60689	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99744	1.1016	10	0.87932	D	0	.	17.7817	0.88526	0.0:1.0:0.0:0.0	.	427	P19793	RXRA_HUMAN	F	427;330	ENSP00000419692:S427F;ENSP00000442123:S330F	ENSP00000419692:S427F	S	+	2	0	RXRA	136468172	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.532000	0.81985	2.193000	0.70182	0.591000	0.81541	TCC	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054949.1		+	ENST00000481739.1	Missense_Mutation	SNP	9 : 137328351 - 137328351 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	427	104
RYR1	6261	broad.mit.edu	37	19	38976774	38976774	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:38976774C>T	ENST00000355481.4	+	34	5610	c.5479C>T	c.(5479-5481)Cgc>Tgc	p.R1827C	RYR1_ENST00000360985.3_Missense_Mutation_p.R1827C|RYR1_ENST00000359596.3_Missense_Mutation_p.R1827C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1827	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAGCACGCTCGCGACCCCGT	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	79	80			NA	NA	19		NA											NA				38976774		2197	4290	6487	SO:0001583	missense			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218	6261	6261		Ion channels / Ryanodine receptors	10483	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 137	180901	central core disease of muscle	MHS, MHS1, CCO	NA	1862346, 16621918	Standard		NM_000540	NA	Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000355481.4:c.5479C>T	19.37:g.38976774C>T	ENSP00000347667:p.Arg1827Cys	NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897596	0.33535	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.75821	-0.97;-0.97;-0.97	3.7	1.45	0.22620	.	0.000000	0.56097	U	0.000022	D	0.83257	0.5215	M	0.84082	2.675	0.45390	D	0.998377	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.80471	-0.1368	10	0.87932	D	0	.	5.8485	0.18679	0.4699:0.4345:0.0:0.0956	.	1827;1827	P21817-2;P21817	.;RYR1_HUMAN	C	1827	ENSP00000352608:R1827C;ENSP00000347667:R1827C;ENSP00000354254:R1827C	ENSP00000347667:R1827C	R	+	1	0	RYR1	43668614	0.042000	0.20092	0.218000	0.23776	0.839000	0.47603	0.423000	0.21313	0.215000	0.20761	-0.237000	0.12165	CGC	RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2		+	ENST00000355481.4	Missense_Mutation	SNP	19 : 38976774 - 38976774 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	552	114
SGIP1	84251	broad.mit.edu	37	1	67137671	67137671	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:67137671C>A	ENST00000371037.4	+	11	630	c.553C>A	c.(553-555)Ctt>Att	p.L185I	SGIP1_ENST00000371036.3_Missense_Mutation_p.L152I|SGIP1_ENST00000468286.1_3'UTR|AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.L189I|SGIP1_ENST00000371039.1_Missense_Mutation_p.L153I|SGIP1_ENST00000371035.3_Missense_Mutation_p.L142I	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	185	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AACTCCAGAACTTATAAGGTG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	109	111			NA	NA	1		NA											NA				67137671		2203	4300	6503	SO:0001583	missense			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473	84251	84251			25412	protein-coding gene	gene with protein product		611540			NA	11230166	Standard	NM_032291	NM_032291	NA	Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.553C>A	1.37:g.67137671C>A	ENSP00000360076:p.Leu185Ile	NA	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	37	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893702	0.33442	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.17370	2.28;3.98;3.98;2.28;3.98;2.28	5.53	5.53	0.82687	.	0.251717	0.41001	D	0.000975	T	0.08223	0.0205	L	0.36672	1.1	0.28969	N	0.889373	B	0.06786	0.001	B	0.06405	0.002	T	0.06972	-1.0797	10	0.37606	T	0.19	-17.8373	19.4593	0.94910	0.0:1.0:0.0:0.0	.	185	Q9BQI5	SGIP1_HUMAN	I	189;153;177;142;188;188;152;185	ENSP00000237247:L189I;ENSP00000360078:L153I;ENSP00000410439:L177I;ENSP00000360074:L142I;ENSP00000360075:L152I;ENSP00000360076:L185I	ENSP00000237247:L189I	L	+	1	0	SGIP1	66910259	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.925000	0.70062	2.601000	0.87937	0.563000	0.77884	CTT	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025395.4		+	ENST00000371037.4	Missense_Mutation	SNP	1 : 67137671 - 67137671 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	246	22
SLC1A3	6507	broad.mit.edu	37	5	36608640	36608640	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:36608640G>A	ENST00000265113.4	+	2	591	c.115G>A	c.(115-117)Gag>Aag	p.E39K	SLC1A3_ENST00000381918.3_Missense_Mutation_p.E39K|SLC1A3_ENST00000506725.1_3'UTR	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	39					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	CATTACAAAGGAGGATGTTAA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	185	185			NA	NA	5		NA											NA				36608640		2203	4300	6503	SO:0001583	missense				CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215	6507	6507		Solute carriers	10941	protein-coding gene	gene with protein product	glutamate transporter variant EAAT1ex9skip	600111			NA	7521911, 7698014	Standard	NM_004172	NM_004172	NA	Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.115G>A	5.37:g.36608640G>A	ENSP00000265113:p.Glu39Lys	NA	B2R5T3	37	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517899	0.64634	.	.	ENSG00000079215	ENST00000265113;ENST00000513903;ENST00000427100;ENST00000416645;ENST00000505202;ENST00000513646;ENST00000381918	T;T;T;T;T	0.55588	0.51;1.91;1.91;1.91;0.51	5.69	5.69	0.88448	.	0.244001	0.42548	D	0.000695	T	0.35711	0.0941	N	0.08118	0	0.39293	D	0.964762	B;B	0.12013	0.002;0.005	B;B	0.11329	0.003;0.006	T	0.19745	-1.0296	10	0.18710	T	0.47	-22.2818	19.812	0.96551	0.0:0.0:1.0:0.0	.	39;39	Q4JCQ8;P43003	.;EAA1_HUMAN	K	39	ENSP00000265113:E39K;ENSP00000427203:E39K;ENSP00000424986:E39K;ENSP00000420992:E39K;ENSP00000371343:E39K	ENSP00000265113:E39K	E	+	1	0	SLC1A3	36644397	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.777000	0.68931	2.685000	0.91497	0.655000	0.94253	GAG	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207579.2		+	ENST00000265113.4	Missense_Mutation	SNP	5 : 36608640 - 36608640 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	949	151
SSTR1	6751	broad.mit.edu	37	14	38678945	38678945	+	Silent	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr14:38678945C>T	ENST00000267377.2	+	3	968	c.351C>T	c.(349-351)tcC>tcT	p.S117S		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	117					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TAGTCACCTCCACGTTGTTGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	182	189			NA	NA	14		NA											NA				38678945		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874	NA	6751		GPCR / Class A : Somatostatin receptors	11330	protein-coding gene	gene with protein product		182451			NA	8449518	Standard		NM_001049	NA	Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.351C>T	14.37:g.38678945C>T		NA		37	CCDS9666.1																																																																																			SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409930.2		+	ENST00000267377.2	Silent	SNP	14 : 38678945 - 38678945 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	812	58
SYNE1	23345	broad.mit.edu	37	6	152527344	152527344	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr6:152527344G>A	ENST00000367255.5	-	126	23579	c.22978C>T	c.(22978-22980)Cgg>Tgg	p.R7660W	SYNE1_ENST00000448038.1_Missense_Mutation_p.R7589W|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2184W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7272W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7589W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7660W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7660					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTCCAGCCGCATGCTGGCT	0.478		NA								HNSCC(10;0.0054)			G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	4e-04	SNP								NA				0													75	73	74			NA	NA	6		NA											NA				152527344		2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22978C>T	6.37:g.152527344G>A	ENSP00000356224:p.Arg7660Trp	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.46	1.645098	0.29246	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.51	-2.62	0.06152	.	0.910031	0.09366	N	0.811992	T	0.25232	0.0613	L	0.57536	1.79	0.09310	N	1	D;D;D;D	0.67145	0.994;0.994;0.996;0.994	P;P;P;P	0.55824	0.487;0.487;0.785;0.614	T	0.10337	-1.0634	10	0.59425	D	0.04	.	4.8395	0.13483	0.3197:0.0:0.3036:0.3767	.	7660;7660;7589;7589	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	W	7660;306;7589;7660;7589;7272;2184;582	ENSP00000356224:R7660W;ENSP00000356226:R306W;ENSP00000396024:R7589W;ENSP00000265368:R7660W;ENSP00000390975:R7589W;ENSP00000341887:R7272W;ENSP00000349276:R2184W;ENSP00000356220:R582W	ENSP00000265368:R7660W	R	-	1	2	SYNE1	152569037	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	0.089000	0.15002	-0.469000	0.06911	-0.293000	0.09583	CGG	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152527344 - 152527344 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	331	6
TAF4	6874	broad.mit.edu	37	20	60585136	60585136	+	Missense_Mutation	SNP	A	A	G			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr20:60585136A>G	ENST00000252996.4	-	4	1726	c.1727T>C	c.(1726-1728)gTa>gCa	p.V576A	TAF4_ENST00000609045.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	NA					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CGCCCCTGGTACCGTGCGCTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	77	84			NA	NA	20		NA											NA				60585136		2203	4300	6503	SO:0001583	missense			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699	6874	6874			11537	protein-coding gene	gene with protein product		601796	TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD	TAF4A, TAF2C1, TAF2C	NA	8942982, 9192867	Standard	NM_003185	NM_003185	NA	Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1727T>C	20.37:g.60585136A>G	ENSP00000252996:p.Val576Ala	NA	A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	37	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	A	8.390	0.839537	0.16891	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.23348	1.92;1.91	4.8	3.65	0.41850	.	0.449437	0.23513	N	0.047377	T	0.15782	0.0380	L	0.44542	1.39	0.43471	D	0.995686	P	0.34699	0.464	B	0.28709	0.093	T	0.03739	-1.1008	10	0.02654	T	1	-10.3553	10.7964	0.46464	0.8585:0.0:0.0:0.1414	.	576	O00268	TAF4_HUMAN	A	576;440	ENSP00000252996:V576A;ENSP00000399091:V440A	ENSP00000252996:V576A	V	-	2	0	TAF4	60018531	1.000000	0.71417	0.628000	0.29241	0.112000	0.19704	6.400000	0.73252	1.805000	0.52779	0.260000	0.18958	GTA	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079968.2		-	ENST00000252996.4	Missense_Mutation	SNP	20 : 60585136 - 60585136 G PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	175	15
TECTA	7007	broad.mit.edu	37	11	121023690	121023690	+	Silent	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:121023690C>T	ENST00000392793.1	+	13	4477	c.4206C>T	c.(4204-4206)tgC>tgT	p.C1402C	TECTA_ENST00000264037.2_Silent_p.C1402C			O75443	TECTA_HUMAN	tectorin alpha	1402	TIL 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCACTACTGCGTGGAGGGCT	0.622		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	44	42	43		4206	-1.5	1	11		43	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	TECTA	NM_005422.2		0,1,6501	TT,TC,CC	NA	0.0116,0.0,0.0077		1402/2156	121023690	1,13003	2203	4299	6502	SO:0001819	synonymous_variant			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927	7007	7007			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21	NA	9503015, 9590290	Standard	NM_005422	NM_005422	NA	Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4206C>T	11.37:g.121023690C>T		NA		37	CCDS8434.1																																																																																			TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313850.1		+	ENST00000392793.1	Silent	SNP	11 : 121023690 - 121023690 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	188	9
TIE1	7075	broad.mit.edu	37	1	43778910	43778910	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:43778910G>A	ENST00000372476.3	+	13	2111	c.2032G>A	c.(2032-2034)Gtt>Att	p.V678I	TIE1_ENST00000433781.2_Missense_Mutation_p.V323I	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	678	Fibronectin type-III 3.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATCCAAGTACGTTGTGGAGGT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	94	102			NA	NA	1		NA											NA				43778910		2203	4300	6503	SO:0001583	missense			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	7075	7075	2.7.10.1	Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	11809	protein-coding gene	gene with protein product		600222	tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1	TIE	NA	1312667	Standard	NM_005424	NM_005424	NA	Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2032G>A	1.37:g.43778910G>A	ENSP00000361554:p.Val678Ile	NA		37	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	0.048	-1.258294	0.01445	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000433781	T;T	0.57107	0.42;0.42	5.08	1.24	0.21308	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.179360	0.26563	N	0.023668	T	0.18215	0.0437	N	0.00642	-1.3	0.19775	N	0.999952	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.27536	-1.0071	10	0.13853	T	0.58	.	11.398	0.49854	0.8638:0.0:0.1362:0.0	.	323;633;678;323;678	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	I	678;81;323	ENSP00000361554:V678I;ENSP00000411728:V323I	ENSP00000361553:V81I	V	+	1	0	TIE1	43551497	1.000000	0.71417	0.908000	0.35775	0.331000	0.28603	2.067000	0.41461	-0.002000	0.14469	-2.033000	0.00422	GTT	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019011.1		+	ENST00000372476.3	Missense_Mutation	SNP	1 : 43778910 - 43778910 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	252	22
TMEM132D	121256	broad.mit.edu	37	12	130184899	130184899	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:130184899G>A	ENST00000422113.2	-	2	750	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	142						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACTTTGGGCCGGCTCAGGTAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	0,4406		0,0,2203	38	38	38		424	3.3	1	12		38	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM132D	NM_133448.2	101	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	142/1100	130184899	1,13005	2203	4300	6503	SO:0001583	missense			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952	121256	121256			29411	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 153	611257			NA	11853319, 12966072	Standard	NM_133448	NM_133448	NA	Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.424C>T	12.37:g.130184899G>A	ENSP00000408581:p.Arg142Trp	NA	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	9.165	1.019720	0.19355	0.0	1.16E-4	ENSG00000151952	ENST00000422113	T	0.12984	2.63	5.33	3.3	0.37823	.	0.515638	0.16729	N	0.201915	T	0.16599	0.0399	M	0.71036	2.16	0.23449	N	0.997652	B	0.22211	0.066	B	0.12156	0.007	T	0.10894	-1.0610	9	.	.	.	-20.3601	11.7484	0.51835	0.0:0.0:0.3963:0.6037	.	142	Q14C87	T132D_HUMAN	W	142	ENSP00000408581:R142W	.	R	-	1	2	TMEM132D	128750852	0.995000	0.38212	0.978000	0.43139	0.278000	0.26855	1.468000	0.35332	1.208000	0.43306	-0.324000	0.08512	CGG	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399592.1		-	ENST00000422113.2	Missense_Mutation	SNP	12 : 130184899 - 130184899 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	218	33
TP53	7157	broad.mit.edu	37	17	7578260	7578260	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr17:7578260C>T	ENST00000420246.2	-	6	721	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	TP53_ENST00000445888.2_Missense_Mutation_p.V197M|TP53_ENST00000413465.2_Missense_Mutation_p.V197M|TP53_ENST00000359597.4_Missense_Mutation_p.V197M|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.V197M|TP53_ENST00000269305.4_Missense_Mutation_p.V197M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	197	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> E (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V197M(10)|p.0?(8)|p.V197L(6)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.V104L(1)|p.V65L(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTTCCTTCCACTCGGATAAGA	0.552		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	42	Substitution - Missense(18)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Complex - deletion inframe(5)|Complex - frameshift(1)	breast(6)|biliary_tract(5)|large_intestine(5)|liver(5)|skin(4)|bone(4)|central_nervous_system(3)|lung(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|stomach(1)|oesophagus(1)|ovary(1)	GRCh37	CM070297	TP53	M							108	96	100			NA	NA	17		NA											NA				7578260		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.589G>A	17.37:g.7578260C>T	ENSP00000391127:p.Val197Met	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638630	0.47153	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99837	-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06	5.41	4.44	0.53790	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.059878	0.64402	D	0.000004	D	0.99743	0.9898	M	0.77820	2.39	0.52099	D	0.999948	D;D;D;D;D;D;D	0.89917	1.0;0.992;0.999;1.0;0.988;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.972;0.996;1.0;0.97;0.999;1.0	D	0.97268	0.9909	10	0.66056	D	0.02	-16.054	12.3714	0.55256	0.0:0.9175:0.0:0.0824	.	158;197;197;104;197;197;197	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	197;197;197;197;197;197;186;104;65;104;65	ENSP00000410739:V197M;ENSP00000352610:V197M;ENSP00000269305:V197M;ENSP00000398846:V197M;ENSP00000391127:V197M;ENSP00000391478:V197M;ENSP00000425104:V65M;ENSP00000423862:V104M	ENSP00000269305:V197M	V	-	1	0	TP53	7518985	0.994000	0.37717	0.999000	0.59377	0.021000	0.10359	3.252000	0.51461	1.420000	0.47138	0.655000	0.94253	GTG	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7578260 - 7578260 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	199	37
TRIM68	55128	broad.mit.edu	37	11	4623634	4623634	+	Silent	SNP	C	C	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:4623634C>A	ENST00000300747.5	-	4	820	c.531G>T	c.(529-531)gtG>gtT	p.V177V		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	177					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCGGGTTTCCACCTGTATCT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	58	58			NA	NA	11		NA											NA				4623634		2201	4298	6499	SO:0001819	synonymous_variant			AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333	55128	55128		RING-type (C3HC4) zinc fingers, Tripartite motif containing / Tripartite motif containing	21161	protein-coding gene	gene with protein product		613184	ring finger protein 137, tripartite motif-containing 68	RNF137	NA	11597395	Standard	NM_018073	NM_018073	NA	Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.531G>T	11.37:g.4623634C>A		NA	A6NI19|A8K551|B3KPM5|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	37	CCDS31356.1																																																																																			TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385948.1		-	ENST00000300747.5	Silent	SNP	11 : 4623634 - 4623634 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	278	12
TXK	7294	broad.mit.edu	37	4	48114421	48114421	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:48114421G>A	ENST00000264316.4	-	4	368	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	95	SH3.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GGTTCTCTGGGCAGAAAATCA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	171	170			NA	NA	4		NA											NA				48114421		2203	4300	6503	SO:0001583	missense			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	7294	7294	2.7.10.1	SH2 domain containing	12434	protein-coding gene	gene with protein product		600058	PTK4 protein tyrosine kinase 4	PTK4	NA	7951233, 7528718	Standard	NM_003328	NM_003328	NA	Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.283C>T	4.37:g.48114421G>A	ENSP00000264316:p.Pro95Ser	NA	Q14220	37	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813681	0.70912	.	.	ENSG00000074966	ENST00000264316;ENST00000506073	T;T	0.48201	0.82;0.82	5.12	5.12	0.69794	Src homology-3 domain (4);	0.083055	0.47852	D	0.000215	T	0.59101	0.2169	L	0.55743	1.74	0.80722	D	1	P;P	0.52692	0.955;0.952	P;P	0.60541	0.876;0.685	T	0.52917	-0.8511	10	0.31617	T	0.26	.	13.9414	0.64057	0.0:0.0:1.0:0.0	.	95;95	E7EQN8;P42681	.;TXK_HUMAN	S	95	ENSP00000264316:P95S;ENSP00000422798:P95S	ENSP00000264316:P95S	P	-	1	0	TXK	47809178	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	2.572000	0.45999	2.681000	0.91329	0.563000	0.77884	CCC	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219869.7		-	ENST00000264316.4	Missense_Mutation	SNP	4 : 48114421 - 48114421 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	591	91
UBR2	23304	broad.mit.edu	37	6	42620364	42620364	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr6:42620364C>T	ENST00000372899.1	+	25	3008	c.2750C>T	c.(2749-2751)tCa>tTa	p.S917L	UBR2_ENST00000372901.1_Missense_Mutation_p.S917L|UBR2_ENST00000372883.3_Missense_Mutation_p.S421L	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	917					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TATGCCTGGTCAGAGTCCATG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	131	136			NA	NA	6		NA											NA				42620364		2203	4300	6503	SO:0001583	missense			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048	23304	23304		Ubiquitin protein ligase E3 component n-recognins	21289	protein-coding gene	gene with protein product		609134	chromosome 6 open reading frame 133	C6orf133	NA		Standard	NM_015255	NM_015255	NA	Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2750C>T	6.37:g.42620364C>T	ENSP00000361990:p.Ser917Leu	NA	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751128	0.89753	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.58797	0.31;0.31;0.31	5.52	5.52	0.82312	.	0.061971	0.64402	D	0.000002	T	0.66886	0.2835	M	0.73962	2.25	0.80722	D	1	P;D	0.62365	0.95;0.991	P;P	0.56127	0.487;0.792	T	0.68284	-0.5449	10	0.49607	T	0.09	-15.9844	19.4267	0.94743	0.0:1.0:0.0:0.0	.	917;917	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	L	917;917;421	ENSP00000361990:S917L;ENSP00000361992:S917L;ENSP00000361974:S421L	ENSP00000361974:S421L	S	+	2	0	UBR2	42728342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.084000	0.76866	2.582000	0.87167	0.655000	0.94253	TCA	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040558.2		+	ENST00000372899.1	Missense_Mutation	SNP	6 : 42620364 - 42620364 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	499	137
UNC13C	440279	broad.mit.edu	37	15	54306714	54306714	+	Missense_Mutation	SNP	G	G	C			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr15:54306714G>C	ENST00000260323.11	+	1	1614	c.1614G>C	c.(1612-1614)caG>caC	p.Q538H	UNC13C_ENST00000545554.1_Missense_Mutation_p.Q538H|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q538H	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	538					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGCACTCACAGAGTGATTTTT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	57	58			NA	NA	15		NA											NA				54306714		1850	4105	5955	SO:0001583	missense			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766	440279	440279			23149	protein-coding gene	gene with protein product		614568			NA		Standard	NM_173166	NM_001080534	NA	Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1614G>C	15.37:g.54306714G>C	ENSP00000260323:p.Gln538His	NA	Q0P613|Q8ND48|Q96NP3	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267447	0.40095	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.83506	-1.73;-1.73;-1.73	5.01	4.02	0.46733	.	.	.	.	.	D	0.83510	0.5270	L	0.27053	0.805	0.39140	D	0.962024	D	0.67145	0.996	D	0.75484	0.986	D	0.84308	0.0509	9	0.87932	D	0	.	9.0517	0.36380	0.1739:0.0:0.8261:0.0	.	538	Q8NB66	UN13C_HUMAN	H	538	ENSP00000260323:Q538H;ENSP00000438156:Q538H;ENSP00000442569:Q538H	ENSP00000260323:Q538H	Q	+	3	2	UNC13C	52094006	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.057000	0.41365	2.608000	0.88229	0.655000	0.94253	CAG	UNC13C-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419028.3		+	ENST00000260323.11	Missense_Mutation	SNP	15 : 54306714 - 54306714 C PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	264	26
VWA8	23078	broad.mit.edu	37	13	42273275	42273275	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr13:42273275G>A	ENST00000379310.3	-	29	3564	c.3496C>T	c.(3496-3498)Cac>Tac	p.H1166Y		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8	NA											NA						ACAAAAGGGTGCCAAACGCCA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	105	104			NA	NA	13		NA											NA				42273275		1936	4122	6058	SO:0001583	missense			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763	23078	23078			29071	protein-coding gene	gene with protein product			KIAA0564	KIAA0564	NA	9628581	Standard	NM_015058	NM_015058	NA	Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3496C>T	13.37:g.42273275G>A	ENSP00000368612:p.His1166Tyr	NA		37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531905	0.27387	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.09723	2.95	5.39	5.39	0.77823	.	0.205355	0.43110	D	0.000619	T	0.14657	0.0354	L	0.54323	1.7	0.80722	D	1	B	0.24533	0.105	B	0.19666	0.026	T	0.03662	-1.1015	10	0.32370	T	0.25	.	19.5164	0.95167	0.0:0.0:1.0:0.0	.	1166	A3KMH1	K0564_HUMAN	Y	1070;1166	ENSP00000368612:H1166Y	ENSP00000251030:H1070Y	H	-	1	0	KIAA0564	41171275	1.000000	0.71417	0.999000	0.59377	0.373000	0.29922	7.067000	0.76741	2.682000	0.91365	0.585000	0.79938	CAC	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354828.2		-	ENST00000379310.3	Missense_Mutation	SNP	13 : 42273275 - 42273275 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	289	105
XYLT1	64131	broad.mit.edu	37	16	17228362	17228362	+	Silent	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr16:17228362C>T	ENST00000261381.6	-	9	2079	c.1995G>A	c.(1993-1995)acG>acA	p.T665T	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	665					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.T665T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTGCAGGGACGTCTCGGCCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											73	63	67			NA	NA	16		NA											NA				17228362		2197	4300	6497	SO:0001819	synonymous_variant			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	64131	64131	2.4.2.26	Glucosaminyl (N-acetyl) transferase and xylosyltransferase family	15516	protein-coding gene	gene with protein product	protein xylosyltransferase 1	608124			NA	11099377	Standard	NM_022166	NM_022166	NA	Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1995G>A	16.37:g.17228362C>T		NA	Q9H1B6	37	CCDS10569.1																																																																																			XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252241.2		-	ENST00000261381.6	Silent	SNP	16 : 17228362 - 17228362 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	335	71
ZNF154	7710	broad.mit.edu	37	19	58216263	58216263	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:58216263G>A	ENST00000512439.2	-	2	314	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	AC003006.7_ENST00000599221.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.R40C|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	40	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCACATCACGGTACAGGCAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	177	168	171		118	1.7	0.4	19		171	2,8598	2.2+/-6.3	0,2,4298	no	missense	ZNF154	NM_001085384.1	180	0,3,6500	AA,AG,GG	NA	0.0233,0.0227,0.0231	probably-damaging	40/438	58216263	3,13003	2203	4300	6503	SO:0001583	missense			U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909	7710	7710		Zinc fingers, C2H2-type, -	12939	protein-coding gene	gene with protein product		604085	zinc finger protein 154 (pHZ-92)		NA	7557990	Standard		XR_243957	NA	Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.118C>T	19.37:g.58216263G>A	ENSP00000421258:p.Arg40Cys	NA	A7MCY3|Q8IVG7|Q8NAR0	37	CCDS42639.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650024	0.29336	2.27E-4	2.33E-4	ENSG00000179909	ENST00000512439;ENST00000426889	T;T	0.02812	4.15;4.15	2.78	1.73	0.24493	Krueppel-associated box (4);	.	.	.	.	T	0.04227	0.0117	M	0.67569	2.06	0.18873	N	0.999987	B	0.14438	0.01	B	0.11329	0.006	T	0.32079	-0.9920	9	0.52906	T	0.07	.	5.3394	0.15974	0.1627:0.0:0.8373:0.0	.	40	Q13106	ZN154_HUMAN	C	40	ENSP00000421258:R40C;ENSP00000442370:R40C	ENSP00000442370:R40C	R	-	1	0	ZNF154	62908075	0.000000	0.05858	0.360000	0.25837	0.915000	0.54546	-0.647000	0.05397	0.741000	0.32674	0.313000	0.20887	CGT	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277102.2		-	ENST00000512439.2	Missense_Mutation	SNP	19 : 58216263 - 58216263 A PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	657	32
ZNF366	167465	broad.mit.edu	37	5	71739855	71739855	+	Missense_Mutation	SNP	C	C	T	rs112462947	byFrequency	TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:71739855C>T	ENST00000318442.5	-	5	2453	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	655					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ACCTCGGGGGCGTGCTCCGAC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA	3,4403	8.1+/-20.4	0,3,2200	139	144	142		1963	4.1	0	5	dbSNP_132	142	0,8600		0,0,4300	no	missense	ZNF366	NM_152625.1	58	0,3,6500	TT,TC,CC	NA	0.0,0.0681,0.0231	benign	655/745	71739855	3,13003	2203	4300	6503	SO:0001583	missense			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175	NA	167465		Zinc fingers, C2H2-type	18316	protein-coding gene	gene with protein product		610159			NA		Standard		NM_152625	NA	Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1963G>A	5.37:g.71739855C>T	ENSP00000313158:p.Ala655Thr	NA	Q7RTV4	37	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943458	0.34283	6.81E-4	0.0	ENSG00000178175	ENST00000318442	T	0.08546	3.08	5.87	4.08	0.47627	.	1.645490	0.02889	N	0.133862	T	0.04679	0.0127	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.38329	-0.9666	10	0.15499	T	0.54	-1.5779	7.1067	0.25368	0.0:0.6577:0.1261:0.2163	.	655	Q8N895	ZN366_HUMAN	T	655	ENSP00000313158:A655T	ENSP00000313158:A655T	A	-	1	0	ZNF366	71775611	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	0.255000	0.18333	0.919000	0.36945	0.655000	0.94253	GCC	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218574.3		-	ENST00000318442.5	Missense_Mutation	SNP	5 : 71739855 - 71739855 T PAAD-TCGA-F2-A7TX-Tumor-SM-5W7V8	649	10
