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
AHNAK2	113146	broad.mit.edu	37	14	105415037	105415037	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr14:105415037G>T	ENST00000557457.1	-	1	24				AHNAK2_ENST00000333244.5_Missense_Mutation_p.L2251I			Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	NA						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCCTTGAGGTCCACTTTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	131	127			NA	NA	14		NA											NA				105415037		1865	4114	5979	SO:0001627	intron_variant			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567	113146	113146			20125	protein-coding gene	gene with protein product		608570	chromosome 14 open reading frame 78	C14orf78	NA	15007166	Standard	NM_138420	NM_138420	NA	Approved		uc010axc.1	Q8IVF2		ENST00000557457.1:c.219+5180C>A	14.37:g.105415037G>T		NA	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	37		.	.	.	.	.	.	.	.	.	.	N	8.283	0.816021	0.16607	.	.	ENSG00000185567	ENST00000333244	T	0.00576	6.45	3.48	-6.97	0.01616	.	.	.	.	.	T	0.00666	0.0022	L	0.28649	0.875	0.09310	N	1	D	0.71674	0.998	D	0.77557	0.99	T	0.40251	-0.9573	9	0.06625	T	0.88	.	0.8343	0.01137	0.3263:0.3046:0.1755:0.1936	.	2251	Q8IVF2	AHNK2_HUMAN	I	2251	ENSP00000353114:L2251I	ENSP00000353114:L2251I	L	-	1	0	AHNAK2	104486082	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.804000	0.01738	-2.025000	0.00935	0.306000	0.20318	CTC	AHNAK2-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410299.1		-	ENST00000557457.1	Intron	SNP	14 : 105415037 - 105415037 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	591	6
ALDH1A3	220	broad.mit.edu	37	15	101438319	101438319	+	Missense_Mutation	SNP	G	G	A	rs147665432		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr15:101438319G>A	ENST00000329841.5	+	8	1344	c.812G>A	c.(811-813)cGg>cAg	p.R271Q	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.R164Q	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	271					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	GCTGCGTCCCGGAGCAATCTG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	0,4406		0,0,2203	78	74	75		812	1	0	15	dbSNP_134	75	3,8597	3.0+/-9.4	0,3,4297	no	missense	ALDH1A3	NM_000693.2	43	0,3,6500	AA,AG,GG	NA	0.0349,0.0,0.0231	benign	271/513	101438319	3,13003	2203	4300	6503	SO:0001583	missense			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	220	220	1.2.1.5	Aldehyde dehydrogenases	409	protein-coding gene	gene with protein product	retinaldehyde dehydrogenase 3	600463		ALDH6	NA	7698756	Standard		XR_111558	NA	Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.812G>A	15.37:g.101438319G>A	ENSP00000332256:p.Arg271Gln	NA	Q6NT64	37	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886741	0.51908	0.0	3.49E-4	ENSG00000184254	ENST00000329841;ENST00000346623	T	0.15603	2.41	5.76	1.03	0.20045	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.354015	0.32935	N	0.005464	T	0.07818	0.0196	N	0.14661	0.345	0.09310	N	1	B;B	0.25521	0.128;0.001	B;B	0.22753	0.041;0.001	T	0.22208	-1.0223	10	0.48119	T	0.1	.	3.9817	0.09498	0.387:0.0:0.4484:0.1646	.	175;271	Q7Z3A2;P47895	.;AL1A3_HUMAN	Q	271;175	ENSP00000332256:R271Q	ENSP00000332256:R271Q	R	+	2	0	ALDH1A3	99255842	0.817000	0.29147	0.003000	0.11579	0.960000	0.62799	2.008000	0.40893	0.296000	0.22592	0.555000	0.69702	CGG	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313620.2		+	ENST00000329841.5	Missense_Mutation	SNP	15 : 101438319 - 101438319 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	446	38
ALG1L	200810	broad.mit.edu	37	3	125648197	125648197	+	Nonstop_Mutation	SNP	A	A	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr3:125648197A>G	ENST00000340333.3	-	6	725	c.562T>C	c.(562-564)Tga>Cga	p.*188R	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	0							transferase activity, transferring glycosyl groups			large_intestine(2)|lung(2)	4						GGCGCTGCTCAAAAGGGTTTG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	42	38			NA	NA	3		NA											NA				125648197		1372	2324	3696	SO:0001578	stop_lost			BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366	200810	200810		Glycosyltransferase group 1 domain containing	33721	protein-coding gene	gene with protein product	asparagine-linked glycosylation 1-like 1		asparagine-linked glycosylation 1-like		NA		Standard	NM_001015050	NM_001015050	NA	Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588	ENST00000340333.3:c.562T>C	3.37:g.125648197A>G	ENSP00000340009:p.*188Glyext*11	NA	D3DNA5	37	CCDS33840.1	.	.	.	.	.	.	.	.	.	.	.	1.335	-0.595650	0.03771	.	.	ENSG00000189366	ENST00000340333	.	.	.	1.74	-3.48	0.04739	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6979	0.00902	0.4007:0.2346:0.2066:0.158	.	.	.	.	R	188	.	.	X	-	1	0	ALG1L	127130887	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-1.177000	0.03096	-2.348000	0.00619	-1.392000	0.01152	TGA	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356347.1		-	ENST00000340333.3	Nonstop_Mutation	SNP	3 : 125648197 - 125648197 G PAAD-TCGA-IB-7888-Tumor-SM-2NW83	294	5
ASB15	142685	broad.mit.edu	37	7	123270139	123270139	+	Silent	SNP	A	A	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr7:123270139A>G	ENST00000451558.1	+	13	2081	c.1560A>G	c.(1558-1560)gtA>gtG	p.V520V	ASB15_ENST00000540573.1_Silent_p.V520V|ASB15_ENST00000434204.1_Silent_p.V520V|ASB15_ENST00000275699.3_Silent_p.V520V|ASB15_ENST00000451215.1_Silent_p.V520V			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	520					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CACTAGAAGTACAGAGAGAAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	98	100			NA	NA	7		NA											NA				123270139		2203	4300	6503	SO:0001819	synonymous_variant			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809	142685	142685		Ankyrin repeat domain containing	19767	protein-coding gene	gene with protein product			ankyrin repeat and SOCS box-containing 15		NA	12076535	Standard		XM_005250149	NA	Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1560A>G	7.37:g.123270139A>G		NA	Q3ZCP3|Q3ZCP5|Q68D37	37	CCDS34742.1																																																																																			ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347493.1		+	ENST00000451558.1	Silent	SNP	7 : 123270139 - 123270139 G PAAD-TCGA-IB-7888-Tumor-SM-2NW83	375	25
ASTN2	23245	broad.mit.edu	37	9	119188282	119188282	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:119188282C>T	ENST00000361209.2	-	22	3846	c.3715G>A	c.(3715-3717)Gtg>Atg	p.V1239M	ASTN2_ENST00000373996.3_Missense_Mutation_p.V1286M|ASTN2_ENST00000361477.3_Missense_Mutation_p.V342M|ASTN2_ENST00000313400.4_Missense_Mutation_p.V1290M|ASTN2_ENST00000341734.4_Missense_Mutation_p.V342M|ASTN2_ENST00000288520.5_Missense_Mutation_p.V391M	NM_014010.4	NP_054729.3	O75129	ASTN2_HUMAN	astrotactin 2	1290						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACTGTTTCCACGCGGCTCTGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	69	73			NA	NA	9		NA											NA				119188282		2203	4300	6503	SO:0001583	missense			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219	23245	23245			17021	protein-coding gene	gene with protein product		612856			NA	9734811	Standard	NM_014010	NM_014010	NA	Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000361209.2:c.3715G>A	9.37:g.119188282C>T	ENSP00000354504:p.Val1239Met	NA	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	37	CCDS6815.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.877017	0.51801	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.14766	2.9;2.9;2.48;2.49;2.72;2.91;2.49	5.86	5.86	0.93980	.	0.187931	0.46442	D	0.000285	T	0.10551	0.0258	N	0.08118	0	0.39656	D	0.970535	P;P;D;D;D;P;P	0.63046	0.567;0.567;0.992;0.987;0.989;0.567;0.882	B;B;P;B;P;B;B	0.51193	0.141;0.141;0.607;0.403;0.662;0.216;0.388	T	0.07520	-1.0768	10	0.51188	T	0.08	-23.4177	7.6948	0.28587	0.0:0.808:0.0:0.192	.	342;342;1239;1290;1286;342;391	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	M	1290;1286;391;342;1013;1239;342	ENSP00000314038:V1290M;ENSP00000363108:V1286M;ENSP00000288520:V391M;ENSP00000339925:V342M;ENSP00000363098:V1013M;ENSP00000354504:V1239M;ENSP00000355116:V342M	ENSP00000288520:V391M	V	-	1	0	ASTN2	118228103	1.000000	0.71417	0.966000	0.40874	0.836000	0.47400	4.208000	0.58486	2.761000	0.94854	0.655000	0.94253	GTG	ASTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055428.2		-	ENST00000361209.2	Missense_Mutation	SNP	9 : 119188282 - 119188282 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	256	13
AXL	558	broad.mit.edu	37	19	41745081	41745081	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:41745081A>G	ENST00000301178.4	+	9	1337	c.1147A>G	c.(1147-1149)Ata>Gta	p.I383V	AXL_ENST00000593513.1_Missense_Mutation_p.I115V|AXL_ENST00000359092.3_Missense_Mutation_p.I383V	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	383	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCTAATGGACATAGGGCTAAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	102	114			NA	NA	19		NA											NA				41745081		2203	4300	6503	SO:0001583	missense			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	558	558	2.7.10.1	Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	905	protein-coding gene	gene with protein product		109135			NA	1656220	Standard		NM_021913	NA	Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1147A>G	19.37:g.41745081A>G	ENSP00000301178:p.Ile383Val	NA	Q8N5L2|Q9UD27	37	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	a	1.232	-0.623935	0.03636	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.57107	0.42;0.42	4.31	-2.42	0.06542	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.576798	0.16485	N	0.212370	T	0.27489	0.0675	N	0.17312	0.475	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.31888	-0.9927	10	0.05959	T	0.93	-1.1005	11.2374	0.48949	0.2549:0.0:0.7451:0.0	.	383;383	P30530-2;P30530	.;UFO_HUMAN	V	383	ENSP00000301178:I383V;ENSP00000351995:I383V	ENSP00000301178:I383V	I	+	1	0	AXL	46436921	0.002000	0.14202	0.135000	0.22099	0.952000	0.60782	-0.610000	0.05629	-0.465000	0.06953	0.317000	0.21355	ATA	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463323.2		+	ENST00000301178.4	Missense_Mutation	SNP	19 : 41745081 - 41745081 G PAAD-TCGA-IB-7888-Tumor-SM-2NW83	342	22
BDP1	55814	broad.mit.edu	37	5	70840231	70840231	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:70840231C>A	ENST00000358731.4	+	31	6723	c.6460C>A	c.(6460-6462)Ctc>Atc	p.L2154I	BDP1_ENST00000380675.2_Missense_Mutation_p.L290I	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2154					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAATAAAAACCTCGGACCAGT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	96	97			NA	NA	5		NA											NA				70840231		1835	4090	5925	SO:0001583	missense			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734	55814	55814			13652	protein-coding gene	gene with protein product		607012	TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1	TFNR, TAF3B1	NA	11214970, 11040218	Standard	NM_018429	NM_018429	NA	Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6460C>A	5.37:g.70840231C>A	ENSP00000351575:p.Leu2154Ile	NA	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	9.258	1.042474	0.19748	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.49139	3.67;0.79	5.24	0.299	0.15771	.	0.742384	0.12025	N	0.506463	T	0.40196	0.1107	M	0.64997	1.995	0.09310	N	1	B;B	0.21147	0.052;0.005	B;B	0.22601	0.04;0.004	T	0.35773	-0.9775	10	0.42905	T	0.14	.	4.7548	0.13078	0.0:0.5134:0.1484:0.3382	.	2154;2154	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	I	2154;1702;290;290	ENSP00000351575:L2154I;ENSP00000370050:L290I	ENSP00000351575:L2154I	L	+	1	0	BDP1	70875987	0.000000	0.05858	0.001000	0.08648	0.669000	0.39330	-0.816000	0.04477	0.037000	0.15575	-0.122000	0.15005	CTC	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374681.2		+	ENST00000358731.4	Missense_Mutation	SNP	5 : 70840231 - 70840231 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	625	48
C4orf21	0	broad.mit.edu	37	4	113460845	113460845	+	Splice_Site	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr4:113460845C>T	ENST00000505019.1	-	28	6298	c.6173G>A	c.(6172-6174)gGa>gAa	p.G2058E	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATCTTCCCTTCCTTAAAAAAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	70	72			NA	NA	4		NA											NA				113460845		2203	4300	6503	SO:0001630	splice_region_variant											NA	NA			NA							NA					NA						ENST00000505019.1:c.6173-1G>A	4.37:g.113460845C>T		NA	Q9NUJ4	37		.	.	.	.	.	.	.	.	.	.	C	14.33	2.504359	0.44558	.	.	ENSG00000138658	ENST00000505019	D	0.81659	-1.52	5.37	5.37	0.77165	.	0.229935	0.38436	N	0.001681	T	0.70850	0.3271	L	0.34521	1.04	0.80722	D	1	B;B	0.33637	0.42;0.016	B;B	0.35240	0.198;0.008	T	0.66763	-0.5841	10	0.21540	T	0.41	-21.145	12.0989	0.53772	0.0:0.9203:0.0:0.0797	.	2058;516	G5EA02;B3KQX2	.;.	E	2058	ENSP00000424737:G2058E	ENSP00000424737:G2058E	G	-	2	0	C4orf21	113680294	0.955000	0.32602	0.986000	0.45419	0.904000	0.53231	0.837000	0.27558	2.678000	0.91216	0.555000	0.69702	GGA	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000256413.1	Missense_Mutation	-	ENST00000505019.1	Splice_Site	SNP	4 : 113460845 - 113460845 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	152	13
CACNA2D3	55799	broad.mit.edu	37	3	54798357	54798357	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr3:54798357C>T	ENST00000474759.1	+	13	1407	c.1359C>T	c.(1357-1359)acC>acT	p.T453T	CACNA2D3_ENST00000490478.1_Silent_p.T359T|CACNA2D3_ENST00000415676.2_Silent_p.T453T|CACNA2D3_ENST00000288197.5_Silent_p.T453T	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	453	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGGTGTGGACCGAAGCTTACA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	102	103			NA	NA	3		NA											NA				54798357		2055	4199	6254	SO:0001819	synonymous_variant			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445	55799	55799		Calcium channel subunits	15460	protein-coding gene	gene with protein product		606399			NA	11245980	Standard		XM_005265318	NA	Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1359C>T	3.37:g.54798357C>T		NA	B2RPL6|Q9NY16|Q9NY18	37	CCDS54598.1																																																																																			CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351402.1		+	ENST00000474759.1	Silent	SNP	3 : 54798357 - 54798357 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	500	32
CCDC147	0	broad.mit.edu	37	10	106207500	106207500	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr10:106207500C>T	ENST00000369704.3	+	16	2435	c.2301C>T	c.(2299-2301)cgC>cgT	p.R767R		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		767										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TCTTGGCCCGCCAGCCTGGAC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	54	55			NA	NA	10		NA											NA				106207500		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000369704.3:c.2301C>T	10.37:g.106207500C>T		NA	D3DRA6|Q8NA27	37	CCDS31282.1																																																																																			CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050216.1		+	ENST00000369704.3	Silent	SNP	10 : 106207500 - 106207500 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	372	30
CD33	945	broad.mit.edu	37	19	51728620	51728620	+	Missense_Mutation	SNP	C	C	T	rs138300409	byFrequency	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:51728620C>T	ENST00000262262.4	+	2	205	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.R62W|CD33_ENST00000421133.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	62	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TTACTGGTTCCGGGAAGGAGC	0.537		NA												1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								C	,TRP/ARG,TRP/ARG	12,4394		0,12,2191	84	84	84		,184,184	2.4	0.3	19	dbSNP_134	84	0,8600		0,0,4300	yes	intron,missense,missense	CD33	NM_001082618.1,NM_001177608.1,NM_001772.3	,101,101	0,12,6491	TT,TC,CC	NA	0.0,0.2724,0.0923	,possibly-damaging,possibly-damaging	,62/311,62/365	51728620	12,12994	2203	4300	6503	SO:0001583	missense			M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383	945	945		CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1659	protein-coding gene	gene with protein product	sialic acid binding Ig-like lectin 3	159590	CD33 antigen (gp67)		NA	3139766, 9465907	Standard	NM_001772	NM_001772	NA	Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.184C>T	19.37:g.51728620C>T	ENSP00000262262:p.Arg62Trp	NA	Q8TD24	37	CCDS33084.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	13.98	2.398956	0.42512	0.002724	0.0	ENSG00000105383	ENST00000262262;ENST00000391796	T;T	0.70986	-0.53;-0.53	3.49	2.41	0.29592	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.872790	0.03872	N	0.275685	T	0.78641	0.4315	M	0.84433	2.695	0.34210	D	0.674215	P;P	0.52061	0.95;0.908	B;P	0.47162	0.32;0.54	T	0.71424	-0.4597	10	0.59425	D	0.04	.	8.0281	0.30448	0.2431:0.7569:0.0:0.0	.	62;62	F8WAL2;P20138	.;CD33_HUMAN	W	62	ENSP00000262262:R62W;ENSP00000375673:R62W	ENSP00000262262:R62W	R	+	1	2	CD33	56420432	0.000000	0.05858	0.293000	0.24932	0.544000	0.35116	-0.589000	0.05767	0.778000	0.33520	0.655000	0.94253	CGG	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464199.2		+	ENST00000262262.4	Missense_Mutation	SNP	19 : 51728620 - 51728620 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	771	57
CFTR	1080	broad.mit.edu	37	7	117171027	117171027	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr7:117171027A>C	ENST00000003084.6	+	4	480	c.348A>C	c.(346-348)gaA>gaC	p.E116D	CFTR_ENST00000454343.1_Missense_Mutation_p.E116D	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	116	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ACAAGGAGGAACGCTCTATCG	0.448		NA							Cystic Fibrosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	94	99			NA	NA	7		NA											NA				117171027		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626	1080	1080		Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators, ATP binding cassette transporters / subfamily C	1884	protein-coding gene	gene with protein product	ATP-binding cassette sub-family C, member 7	602421	cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	CF, ABCC7	NA	2772657	Standard	NM_000492	XM_006715842	NA	Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.348A>C	7.37:g.117171027A>C	ENSP00000003084:p.Glu116Asp	NA	Q20BG8|Q20BH2|Q2I0A1|Q2I102	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022693	0.54683	.	.	ENSG00000001626	ENST00000446805;ENST00000003084;ENST00000454343;ENST00000426809	D;D;D;D	0.99748	-6.62;-2.63;-2.63;-2.63	5.73	-1.17	0.09648	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	N	0.17872	0.535	0.42468	D	0.992811	D	0.76494	0.999	D	0.83275	0.996	D	0.96486	0.9360	10	0.22109	T	0.4	-17.2878	5.6679	0.17704	0.6179:0.0:0.2697:0.1124	.	116	P13569	CFTR_HUMAN	D	35;116;116;116	ENSP00000417012:E35D;ENSP00000003084:E116D;ENSP00000403677:E116D;ENSP00000389119:E116D	ENSP00000003084:E116D	E	+	3	2	CFTR	116958263	1.000000	0.71417	0.935000	0.37517	0.096000	0.18686	0.836000	0.27545	-0.336000	0.08438	-0.388000	0.06559	GAA	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059397.3		+	ENST00000003084.6	Missense_Mutation	SNP	7 : 117171027 - 117171027 C PAAD-TCGA-IB-7888-Tumor-SM-2NW83	199	4
CHST1	8534	broad.mit.edu	37	11	45671352	45671352	+	Silent	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:45671352G>A	ENST00000308064.2	-	4	1792	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	374					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCTGGCAGGCGTTCTGGGCAA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	52	51			NA	NA	11		NA											NA				45671352		2203	4299	6502	SO:0001819	synonymous_variant			U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264	8534	8534		Sulfotransferases, membrane-bound	1969	protein-coding gene	gene with protein product		603797			NA	9405439, 9639683	Standard	NM_003654	NM_003654	NA	Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.1122C>T	11.37:g.45671352G>A		NA	D3DQP2	37	CCDS7913.1																																																																																			CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390127.1		-	ENST00000308064.2	Silent	SNP	11 : 45671352 - 45671352 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	459	18
CHSY3	337876	broad.mit.edu	37	5	129241297	129241297	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:129241297C>T	ENST00000305031.4	+	1	1133	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	259						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GTGGTTCATGCGCGCCGACGA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	110	109			NA	NA	5		NA											NA				129241297		2203	4300	6503	SO:0001583	missense			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	337876	337876	2.4.1.175, 2.4.1.226	Beta 3-glycosyltransferases, Beta 4-glycosyltransferases	24293	protein-coding gene	gene with protein product		609963			NA	12907687	Standard	NM_175856	XM_005271982	NA	Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.775C>T	5.37:g.129241297C>T	ENSP00000302629:p.Arg259Cys	NA	B2RP97|Q76L22|Q86Y52	37	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991515	0.54041	.	.	ENSG00000198108	ENST00000305031	D	0.84873	-1.91	3.38	2.49	0.30216	.	0.000000	0.35525	U	0.003160	D	0.93304	0.7866	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93834	0.7130	9	.	.	.	.	11.5327	0.50620	0.4455:0.5545:0.0:0.0	.	259	Q70JA7	CHSS3_HUMAN	C	259	ENSP00000302629:R259C	.	R	+	1	0	CHSY3	129269196	0.989000	0.36119	1.000000	0.80357	0.960000	0.62799	0.291000	0.18994	0.978000	0.38470	0.313000	0.20887	CGC	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371453.1		+	ENST00000305031.4	Missense_Mutation	SNP	5 : 129241297 - 129241297 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	867	6
CILP2	148113	broad.mit.edu	37	19	19655205	19655205	+	Silent	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:19655205G>A	ENST00000586018.1	+	8	1971	c.1869G>A	c.(1867-1869)tcG>tcA	p.S623S	CILP2_ENST00000291495.5_Silent_p.S617S			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	617						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACCTCACCTCGGCGGCGTCTG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	54	51			NA	NA	19		NA											NA				19655205		2198	4295	6493	SO:0001819	synonymous_variant			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161	148113	148113		Immunoglobulin superfamily / Immunoglobulin-like domain containing	24213	protein-coding gene	gene with protein product		612419			NA	12477932	Standard	NM_153221	NM_153221	NA	Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000586018.1:c.1869G>A	19.37:g.19655205G>A		NA	Q6NV88|Q8N4A6|Q8WV21	37																																																																																				CILP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000459739.1		+	ENST00000586018.1	Silent	SNP	19 : 19655205 - 19655205 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	811	50
CLEC4M	10332	broad.mit.edu	37	19	7830661	7830661	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:7830661C>G	ENST00000327325.5	+	4	470	c.352C>G	c.(352-354)Cag>Gag	p.Q118E	CLEC4M_ENST00000248228.4_Missense_Mutation_p.Q118E|CLEC4M_ENST00000334806.5_Missense_Mutation_p.Q90E|CLEC4M_ENST00000595496.1_Missense_Mutation_p.Q97E|CLEC4M_ENST00000597522.1_Missense_Mutation_p.Q118E|CLEC4M_ENST00000596707.1_Missense_Mutation_p.Q97E|CLEC4M_ENST00000357361.2_Missense_Mutation_p.Q118E|CLEC4M_ENST00000394122.2_Missense_Mutation_p.Q106E|CLEC4M_ENST00000359059.5_Missense_Mutation_p.Q97E|CLEC4M_ENST00000596363.1_Missense_Mutation_p.Q90E	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	118	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GGAGCTGACCCAGCTGAAGGC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	80	80			NA	NA	19		NA											NA				7830661		2203	4297	6500	SO:0001583	missense			AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938	10332	10332		C-type lectin domain containing, CD molecules	13523	protein-coding gene	gene with protein product		605872	CD299 antigen	CD209L, CD299	NA	10072769	Standard	NM_014257	NM_001144904	NA	Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.352C>G	19.37:g.7830661C>G	ENSP00000316228:p.Gln118Glu	NA	A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	37	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481699	0.26598	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059;ENST00000357361;ENST00000358690	T;T;T;T;T;T	0.20332	2.08;2.08;4.11;2.08;2.08;2.08	1.48	1.48	0.22813	.	.	.	.	.	T	0.23054	0.0557	L	0.43923	1.385	0.09310	N	1	B;P;P;B;B;B;B;B;B;B	0.52577	0.271;0.954;0.68;0.397;0.114;0.257;0.356;0.0;0.167;0.078	B;P;B;B;B;B;B;B;B;B	0.49665	0.103;0.618;0.356;0.338;0.066;0.34;0.138;0.001;0.079;0.087	T	0.10086	-1.0645	9	0.87932	D	0	.	6.4474	0.21883	0.0:1.0:0.0:0.0	.	90;97;90;118;106;118;90;97;118;62	B4E2Z5;Q9H2X3-5;B4DNV9;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-9;Q9H2X3-7;Q9H2X3-4;Q9H2X3-10	.;.;.;CLC4M_HUMAN;.;.;.;.;.;.	E	118;106;118;90;97;118;62	ENSP00000316228:Q118E;ENSP00000377680:Q106E;ENSP00000248228:Q118E;ENSP00000335228:Q90E;ENSP00000351954:Q97E;ENSP00000349924:Q118E	ENSP00000248228:Q118E	Q	+	1	0	CLEC4M	7736661	0.159000	0.22864	0.234000	0.24042	0.014000	0.08584	0.738000	0.26158	1.143000	0.42306	0.298000	0.19748	CAG	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461161.1		+	ENST00000327325.5	Missense_Mutation	SNP	19 : 7830661 - 7830661 G PAAD-TCGA-IB-7888-Tumor-SM-2NW83	971	8
COL5A1	1289	broad.mit.edu	37	9	137658318	137658318	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:137658318G>C	ENST00000371817.3	+	22	2521	c.2107G>C	c.(2107-2109)Ggc>Cgc	p.G703R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	703	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGTATGGACGGCCAGCCGGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	80	82			NA	NA	9		NA											NA				137658318		2203	4300	6503	SO:0001583	missense			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635	1289	1289		Collagens	2209	protein-coding gene	gene with protein product	alpha 1 type V collagen	120215			NA	1572660	Standard	NM_000093	NM_001278074	NA	Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2107G>C	9.37:g.137658318G>C	ENSP00000360882:p.Gly703Arg	NA	Q15094|Q5SUX4	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620563	0.28801	.	.	ENSG00000130635	ENST00000371817	D	0.99186	-5.53	4.71	3.79	0.43588	.	0.000000	0.64402	U	0.000001	D	0.99318	0.9761	H	0.98314	4.2	0.47819	D	0.999522	D	0.63046	0.992	P	0.53722	0.733	D	0.98691	1.0696	10	0.87932	D	0	.	10.0654	0.42299	0.0:0.0:0.7989:0.2011	.	703	P20908	CO5A1_HUMAN	R	703	ENSP00000360882:G703R	ENSP00000360882:G703R	G	+	1	0	COL5A1	136798139	1.000000	0.71417	0.559000	0.28332	0.315000	0.28087	6.660000	0.74417	0.933000	0.37291	0.655000	0.94253	GGC	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054954.2		+	ENST00000371817.3	Missense_Mutation	SNP	9 : 137658318 - 137658318 C PAAD-TCGA-IB-7888-Tumor-SM-2NW83	224	10
CSF2RA	1438	broad.mit.edu	37	X	1428355	1428355	+	Missense_Mutation	SNP	G	G	A	rs139686363	byFrequency	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:1428355G>A	ENST00000381524.3	+	13	1372	c.1186G>A	c.(1186-1188)Gtg>Atg	p.V396M	CSF2RA_ENST00000381529.3_Missense_Mutation_p.V396M|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V263M|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R336H|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V396M|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V430M|CSF2RA_ENST00000361536.3_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	396						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GGTCTTGACCGTGAAGGAAAT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(131;723 1707 25334 40494 41806)							NA				0								G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,HIS/ARG,,	0,4406		0,0,2203	232	216	221		1186,1288,787,1186,1186,1007,,	0.7	0	X	dbSNP_134	221	3,8589		0,3,4293	yes	missense,missense,missense,missense,missense,missense,utr-3,utr-3	CSF2RA	NM_001161529.1,NM_001161530.1,NM_001161532.1,NM_006140.4,NM_172245.2,NM_172246.2,NM_172247.2,NM_172249.2	21,21,21,21,21,29,,	0,3,6496	AA,AG,GG	NA	0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,,	396/401,430/435,263/268,396/401,396/401,336/378,,	1428355	3,12995	2203	4296	6499	SO:0001583	missense			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223	NA	1438		CD molecules, Pseudoautosomal regions / PAR1	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R	NA	1702217	Standard		NM_006140	NA	Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.1186G>A	X.37:g.1428355G>A	ENSP00000370935:p.Val396Met	NA	A8KAM1|O00207|Q14429|Q14430|Q14431|Q16564	37	CCDS35191.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.17|11.17	1.559304|1.559304	0.27827|0.27827	0.0|0.0	3.49E-4|3.49E-4	ENSG00000198223|ENSG00000198223	ENST00000355432|ENST00000381529;ENST00000432318;ENST00000501036;ENST00000381524;ENST00000417535	T|D;D;D;D;D	0.46451|0.95272	0.87|-3.53;-3.53;-3.66;-3.53;-3.32	0.69|0.69	0.69|0.69	0.18039|0.18039	.|.	.|.	.|.	.|.	.|.	D|D	0.95522|0.95522	0.8545|0.8545	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D|D;D	0.54207|0.76494	0.965|0.999;0.997	B|P;P	0.32864|0.61201	0.154|0.885;0.838	D|D	0.88243|0.88243	0.2911|0.2911	7|7	0.87932|0.66056	D|D	0|0.02	.|.	.|.	.|.	.|.	.|.	337|430;396	P15509-5|A7J003;P15509	.|.;CSF2R_HUMAN	H|M	336|396;396;263;396;430	ENSP00000347606:R336H|ENSP00000370940:V396M;ENSP00000416437:V396M;ENSP00000440491:V263M;ENSP00000370935:V396M;ENSP00000394227:V430M	ENSP00000347606:R336H|ENSP00000370935:V396M	R|V	+|+	2|1	0|0	CSF2RA|CSF2RA	1388355|1388355	0.007000|0.007000	0.16637|0.16637	0.020000|0.020000	0.16555|0.16555	0.092000|0.092000	0.18411|0.18411	1.192000|1.192000	0.32150|0.32150	0.658000|0.658000	0.30925|0.30925	0.110000|0.110000	0.15639|0.15639	CGT|GTG	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000035013.2		+	ENST00000381524.3	Missense_Mutation	SNP	X : 1428355 - 1428355 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	877	6
CSMD1	64478	broad.mit.edu	37	8	3165343	3165343	+	Splice_Site	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr8:3165343G>A	ENST00000520002.1	-	26	4382	c.3827C>T	c.(3826-3828)gCg>gTg	p.A1276V	CSMD1_ENST00000539096.1_Splice_Site_p.A1275V|CSMD1_ENST00000542608.1_Splice_Site_p.A1275V|CSMD1_ENST00000602557.1_Splice_Site_p.A1276V|CSMD1_ENST00000602723.1_Splice_Site_p.A1276V|CSMD1_ENST00000400186.3_Splice_Site_p.A1276V|CSMD1_ENST00000537824.1_Splice_Site_p.A1275V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1276	Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCACATTCCGCTGTAGAAGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	0,4050		0,0,2025	89	88	88		3824	4.9	1	8		88	1,8405		0,1,4202	yes	missense-near-splice	CSMD1	NM_033225.5	64	0,1,6227	AA,AG,GG	NA	0.0119,0.0,0.0080	benign	1275/3565	3165343	1,12455	2025	4203	6228	SO:0001630	splice_region_variant					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117	64478	64478		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	14026	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 24	608397			NA		Standard	NM_033225	NM_033225	NA	Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3827-1C>T	8.37:g.3165343G>A		NA	Q0H0J5|Q96QU9|Q96RM4	37		.	.	.	.	.	.	.	.	.	.	G	34	5.328932	0.95733	0.0	1.19E-4	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	4.86	4.86	0.63082	Complement control module (2);Sushi/SCR/CCP (1);	0.069339	0.56097	D	0.000026	T	0.55178	0.1904	M	0.84156	2.68	0.80722	D	1	P;D;D	0.89917	0.847;1.0;0.981	B;D;P	0.73380	0.129;0.98;0.832	T	0.60767	-0.7198	10	0.49607	T	0.09	.	18.0036	0.89203	0.0:0.0:1.0:0.0	.	1276;1276;1276	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	V	1276;1276;1138;1275;1275;1275	ENSP00000383047:A1276V;ENSP00000430733:A1276V;ENSP00000441462:A1275V;ENSP00000446243:A1275V;ENSP00000441675:A1275V	ENSP00000320445:A1138V	A	-	2	0	CSMD1	3152750	1.000000	0.71417	0.996000	0.52242	0.866000	0.49608	9.606000	0.98325	2.241000	0.73720	0.655000	0.94253	GCG	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000374500.2	Missense_Mutation	-	ENST00000520002.1	Splice_Site	SNP	8 : 3165343 - 3165343 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	457	37
CSMD2	114784	broad.mit.edu	37	1	33999485	33999485	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:33999485C>T	ENST00000373381.4	-	63	10078	c.9902G>A	c.(9901-9903)cGt>cAt	p.R3301H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3157						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTTTTGACAACGGAAGAGGAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	117	125			NA	NA	1		NA											NA				33999485		2203	4300	6503	SO:0001583	missense			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904	114784	114784			19290	protein-coding gene	gene with protein product		608398			NA	11472063, 11572484	Standard	NM_052896	NM_001281956	NA	Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9902G>A	1.37:g.33999485C>T	ENSP00000362479:p.Arg3301His	NA	B1AM50|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	37		.	.	.	.	.	.	.	.	.	.	C	15.17	2.753862	0.49362	.	.	ENSG00000121904	ENST00000373381	T	0.64991	-0.13	5.33	3.45	0.39498	Complement control module (2);Sushi/SCR/CCP (3);	0.324034	0.31010	N	0.008421	T	0.57140	0.2033	N	0.12961	0.28	0.80722	D	1	B;D	0.59357	0.014;0.985	B;D	0.65323	0.015;0.934	T	0.51411	-0.8709	10	0.20046	T	0.44	.	9.63	0.39774	0.0:0.7703:0.0:0.2297	.	3157;3301	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	3301	ENSP00000362479:R3301H	ENSP00000241312:R3157H	R	-	2	0	CSMD2	33772072	0.958000	0.32768	0.903000	0.35520	0.527000	0.34593	1.098000	0.31000	1.248000	0.43934	0.591000	0.81541	CGT	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			-	ENST00000373381.4	Missense_Mutation	SNP	1 : 33999485 - 33999485 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	292	19
CTBP2	1488	broad.mit.edu	37	10	126678151	126678151	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr10:126678151T>C	ENST00000309035.6	-	9	3024	c.2894A>G	c.(2893-2895)cAa>cGa	p.Q965R	CTBP2_ENST00000531469.1_Missense_Mutation_p.Q425R|CTBP2_ENST00000334808.6_Missense_Mutation_p.Q493R|CTBP2_ENST00000494626.2_Missense_Mutation_p.Q425R|CTBP2_ENST00000337195.5_Missense_Mutation_p.Q425R|CTBP2_ENST00000411419.2_Missense_Mutation_p.Q425R	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	425					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AGAGGGCGCTTGGGAAGGATG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	71	71			NA	NA	10		NA											NA				126678151		2203	4300	6503	SO:0001583	missense			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029	1488	1488			2495	protein-coding gene	gene with protein product		602619			NA	9479502, 11864595	Standard	NM_001083914	NM_022802	NA	Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000309035.6:c.2894A>G	10.37:g.126678151T>C	ENSP00000311825:p.Gln965Arg	NA	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	37	CCDS7644.1	.	.	.	.	.	.	.	.	.	.	T	3.268	-0.149624	0.06585	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D;D;D	0.83250	-1.61;-1.7;-1.69;-1.61;-1.61;-1.61	5.12	5.12	0.69794	.	0.057401	0.64402	D	0.000001	T	0.72366	0.3451	N	0.14661	0.345	0.43246	D	0.99516	B;B;B	0.31790	0.0;0.34;0.001	B;B;B	0.32928	0.002;0.155;0.003	T	0.74551	-0.3628	10	0.56958	D	0.05	.	15.0938	0.72217	0.0:0.0:0.0:1.0	.	425;965;493	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	R	425;965;493;425;425;425	ENSP00000338615:Q425R;ENSP00000311825:Q965R;ENSP00000357816:Q493R;ENSP00000434630:Q425R;ENSP00000436285:Q425R;ENSP00000410474:Q425R	ENSP00000311825:Q965R	Q	-	2	0	CTBP2	126668141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.616000	0.67709	2.153000	0.67306	0.528000	0.53228	CAA	CTBP2-006	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050905.1		-	ENST00000309035.6	Missense_Mutation	SNP	10 : 126678151 - 126678151 C PAAD-TCGA-IB-7888-Tumor-SM-2NW83	521	6
CYP2F1	1572	broad.mit.edu	37	19	41633864	41633864	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:41633864C>T	ENST00000331105.2	+	10	1425	c.1353C>T	c.(1351-1353)acC>acT	p.T451T		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	451					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TGTACCTCACCGCCATCCTGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	17	16			NA	NA	19		NA											NA				41633864		2198	4286	6484	SO:0001819	synonymous_variant			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446	1572	1572		Cytochrome P450s	2632	protein-coding gene	gene with protein product		124070	cytochrome P450, subfamily IIF, polypeptide 1	CYP2F	NA		Standard		NM_000774	NA	Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1353C>T	19.37:g.41633864C>T		NA	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q8WWJ2	37	CCDS12572.1																																																																																			CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394527.2		+	ENST00000331105.2	Silent	SNP	19 : 41633864 - 41633864 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	143	5
DDO	8528	broad.mit.edu	37	6	110714483	110714483	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:110714483G>A	ENST00000368924.3	-	5	620	c.605C>T	c.(604-606)cCg>cTg	p.P202L	DDO_ENST00000368923.3_Missense_Mutation_p.P143L	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	174					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GTCAAAGGACGGATGAAGTTC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	125	124	124		428,605	1.9	0	6		124	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DDO	NM_004032.2,NM_003649.2	98,98	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign,benign	143/311,202/370	110714483	1,13005	2203	4300	6503	SO:0001583	missense			D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	8528	8528	1.4.3.1		2727	protein-coding gene	gene with protein product		124450			NA	9163533	Standard		NM_003649	NA	Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.605C>T	6.37:g.110714483G>A	ENSP00000357920:p.Pro202Leu	NA	A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	37	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	G	3.961	-0.010388	0.07727	0.0	1.16E-4	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	T;T;T	0.35421	1.31;1.31;1.31	5.95	1.93	0.25924	.	0.501675	0.22971	N	0.053429	T	0.09686	0.0238	L	0.46157	1.445	0.09310	N	1	P;B	0.34662	0.462;0.121	B;B	0.17722	0.01;0.019	T	0.11470	-1.0586	10	0.31617	T	0.26	-13.5945	7.5782	0.27948	0.0:0.3124:0.3619:0.3257	.	143;202	Q99489-4;Q99489-3	.;.	L	202;143;174	ENSP00000357920:P202L;ENSP00000357919:P143L;ENSP00000357921:P174L	ENSP00000357919:P143L	P	-	2	0	DDO	110821176	0.000000	0.05858	0.018000	0.16275	0.049000	0.14656	0.680000	0.25306	0.804000	0.34136	0.563000	0.77884	CCG	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041796.1		-	ENST00000368924.3	Missense_Mutation	SNP	6 : 110714483 - 110714483 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	1194	73
DDX10	1662	broad.mit.edu	37	11	108546412	108546412	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:108546412G>A	ENST00000526794.1	+	3	369	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	DDX10_ENST00000322536.3_Missense_Mutation_p.A113T			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	113	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	p.A113T(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		ACTTGGAGCGGCCAAAACTGG	0.438		NA	T	NUP98	AML*									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	1	Substitution - Missense(1)	kidney(1)											157	147	150			NA	NA	11		NA											NA				108546412		2201	4298	6499	SO:0001583	missense			U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105	1662	1662		DEAD-boxes	2735	protein-coding gene	gene with protein product		601235	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)		NA	8660968	Standard	NM_004398	NM_004398	NA	Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000526794.1:c.337G>A	11.37:g.108546412G>A	ENSP00000432032:p.Ala113Thr	NA	B2RCQ3|Q5BJD8	37		.	.	.	.	.	.	.	.	.	.	G	36	5.649371	0.96714	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.22539	1.95;1.95	5.82	5.82	0.92795	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.046541	0.85682	N	0.000000	T	0.53302	0.1788	H	0.95679	3.705	0.80722	D	1	P;P	0.48764	0.858;0.915	P;P	0.51055	0.657;0.657	T	0.67921	-0.5545	10	0.87932	D	0	-4.8073	20.1566	0.98115	0.0:0.0:1.0:0.0	.	113;113	Q13206;E9PIF2	DDX10_HUMAN;.	T	113	ENSP00000314348:A113T;ENSP00000432032:A113T	ENSP00000314348:A113T	A	+	1	0	DDX10	108051622	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.413000	0.97351	2.779000	0.95612	0.603000	0.83216	GCC	DDX10-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000390346.1		+	ENST00000526794.1	Missense_Mutation	SNP	11 : 108546412 - 108546412 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	525	5
DNAH2	146754	broad.mit.edu	37	17	7680922	7680922	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:7680922G>A	ENST00000572933.1	+	33	6677	c.5217G>A	c.(5215-5217)tgG>tgA	p.W1739*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W1739*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1739	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTTGACTGGCTCAGCCAAC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													250	239	243			NA	NA	17		NA											NA				7680922		2203	4300	6503	SO:0001587	stop_gained			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914	146754	146754		Axonemal dyneins	2948	protein-coding gene	gene with protein product		603333	dynein, axonemal, heavy polypeptide 2, dynein heavy chain domain 3	DNHD3	NA	9256245	Standard	NM_020877	XM_005256470	NA	Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5217G>A	17.37:g.7680922G>A	ENSP00000458355:p.Trp1739*	NA	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	46	12.308359	0.99656	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1309	0.89600	0.0:0.0:1.0:0.0	.	.	.	.	X	1739	.	ENSP00000353818:W1739X	W	+	3	0	DNAH2	7621647	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.405000	0.97313	2.569000	0.86673	0.585000	0.79938	TGG	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440241.1		+	ENST00000572933.1	Nonsense_Mutation	SNP	17 : 7680922 - 7680922 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	1782	10
DNAH2	146754	broad.mit.edu	37	17	7721648	7721648	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:7721648G>A	ENST00000572933.1	+	69	11866	c.10406G>A	c.(10405-10407)cGc>cAc	p.R3469H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3469H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3469	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGTTGATGCGCATTGGCGAT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	187	195			NA	NA	17		NA											NA				7721648		2203	4300	6503	SO:0001583	missense			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914	146754	146754		Axonemal dyneins	2948	protein-coding gene	gene with protein product		603333	dynein, axonemal, heavy polypeptide 2, dynein heavy chain domain 3	DNHD3	NA	9256245	Standard	NM_020877	XM_005256470	NA	Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10406G>A	17.37:g.7721648G>A	ENSP00000458355:p.Arg3469His	NA	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614599	0.28712	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.23552	1.9	5.0	5.0	0.66597	.	0.066251	0.64402	D	0.000014	T	0.34571	0.0902	M	0.78049	2.395	0.80722	D	1	B;B	0.26602	0.054;0.154	B;B	0.24269	0.018;0.052	T	0.27706	-1.0066	10	0.66056	D	0.02	.	17.2492	0.87037	0.0:0.0:1.0:0.0	.	3430;3469	Q9P225-2;Q9P225	.;DYH2_HUMAN	H	3430;3469	ENSP00000373825:R3469H	ENSP00000353818:R3430H	R	+	2	0	DNAH2	7662373	0.991000	0.36638	0.973000	0.42090	0.128000	0.20619	3.613000	0.54152	2.595000	0.87683	0.655000	0.94253	CGC	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440241.1		+	ENST00000572933.1	Missense_Mutation	SNP	17 : 7721648 - 7721648 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	1090	8
DNAH9	1770	broad.mit.edu	37	17	11650990	11650990	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:11650990C>T	ENST00000454412.2	+	32	6517	c.6517C>T	c.(6517-6519)Cgg>Tgg	p.R2173W	DNAH9_ENST00000262442.4_Missense_Mutation_p.R2173W			Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2173	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2173W(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GATCATGAAACGGCGCCCCGT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	kidney(1)											91	84	86			NA	NA	17		NA											NA				11650990		2203	4300	6503	SO:0001583	missense			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174	1770	1770		Axonemal dyneins	2953	protein-coding gene	gene with protein product		603330	dynein, axonemal, heavy polypeptide 17-like, dynein, axonemal, heavy polypeptide 9	DNAH17L	NA	8812413, 11247663	Standard	NM_001372	NM_001372	NA	Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000454412.2:c.6517C>T	17.37:g.11650990C>T	ENSP00000414874:p.Arg2173Trp	NA	O15064|O95494|Q9NQ28	37		.	.	.	.	.	.	.	.	.	.	C	20.4	3.987431	0.74589	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.56103	0.48;0.48	4.5	3.52	0.40303	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.385584	0.26638	N	0.023273	T	0.72447	0.3461	M	0.90542	3.125	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.75221	-0.3394	10	0.87932	D	0	.	8.0598	0.30627	0.1561:0.7625:0.0:0.0814	.	2173	Q9NYC9	DYH9_HUMAN	W	2173;2173;755	ENSP00000262442:R2173W;ENSP00000414874:R2173W	ENSP00000262442:R2173W	R	+	1	2	DNAH9	11591715	1.000000	0.71417	0.881000	0.34555	0.987000	0.75469	2.893000	0.48633	1.096000	0.41439	0.557000	0.71058	CGG	DNAH9-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000252758.4		+	ENST00000454412.2	Missense_Mutation	SNP	17 : 11650990 - 11650990 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	539	30
DOCK8	81704	broad.mit.edu	37	9	328114	328114	+	Silent	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:328114G>A	ENST00000469391.1	+	8	862	c.783G>A	c.(781-783)gcG>gcA	p.A261A	DOCK8_ENST00000432829.2_Silent_p.A261A|DOCK8_ENST00000453981.1_Silent_p.A329A	NM_001190458.1|NM_001193536.1	NP_001177387.1|NP_001180465.1	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	329					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAAGTCAGGCGAGATCTGCAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	98	104			NA	NA	9		NA											NA				328114		2203	4300	6503	SO:0001819	synonymous_variant			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099	81704	81704			19191	protein-coding gene	gene with protein product		611432			NA	11214971	Standard	XM_036307	NM_203447	NA	Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000469391.1:c.783G>A	9.37:g.328114G>A		NA	A2A350|A2BDF2|A4FU78|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	37	CCDS55284.1																																																																																			DOCK8-012	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354646.1		+	ENST00000469391.1	Silent	SNP	9 : 328114 - 328114 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	312	28
DUSP16	80824	broad.mit.edu	37	12	12629995	12629995	+	Silent	SNP	G	G	A	rs145763524		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr12:12629995G>A	ENST00000228862.2	-	7	2401	c.1770C>T	c.(1768-1770)tgC>tgT	p.C590C	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	590					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CTTGGTCTCCGCAAGTGGGCA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(158;443 1896 15437 36069 46477)							NA				0								G		0,4406		0,0,2203	78	83	81		1770	2.9	0	12	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DUSP16	NM_030640.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		590/666	12629995	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266	80824	80824		Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases	17909	protein-coding gene	gene with protein product	MAPK phosphatase-7	607175			NA	11359773, 11489891, 15888437	Standard	NM_030640	NM_030640	NA	Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1770C>T	12.37:g.12629995G>A		NA	Q547C7|Q9C0G3	37	CCDS8650.1																																																																																			DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400311.1		-	ENST00000228862.2	Silent	SNP	12 : 12629995 - 12629995 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	749	8
GGT1	2678	broad.mit.edu	37	22	25016960	25016960	+	Missense_Mutation	SNP	C	C	T	rs151033935	by1000genomes	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr22:25016960C>T	ENST00000400382.1	+	9	1411	c.656C>T	c.(655-657)aCg>aTg	p.T219M	GGT1_ENST00000400383.1_Missense_Mutation_p.T219M|GGT1_ENST00000248923.4_Missense_Mutation_p.T219M|GGT1_ENST00000400380.1_Missense_Mutation_p.T219M|GGT1_ENST00000466310.1_Intron|GGT1_ENST00000406383.2_Missense_Mutation_p.T219M			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	219					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ACCTACGAGACGCTGGCCATC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	21	21			NA	NA	22		NA											NA				25016960		2019	4175	6194	SO:0001583	missense			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2678	2678	2.3.2.2	CD molecules, Gamma-glutamyltransferases	4250	protein-coding gene	gene with protein product		612346		GGT	NA	8104871, 18357469	Standard	NM_013430	NM_001288833	NA	Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.656C>T	22.37:g.25016960C>T	ENSP00000383232:p.Thr219Met	NA	Q08247|Q14404|Q8TBS1|Q9UMK1	37	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	12.19	1.864703	0.32977	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383	T;T;T;T;T;T	0.07114	3.22;3.22;3.22;3.22;3.22;3.22	3.94	0.267	0.15622	.	0.287960	0.32769	U	0.005668	T	0.06325	0.0163	L	0.42245	1.32	0.34639	D	0.720394	B	0.26002	0.139	B	0.22880	0.042	T	0.20338	-1.0278	10	0.37606	T	0.19	-11.1687	5.9237	0.19096	0.1511:0.6684:0.0:0.1805	.	219	P19440	GGT1_HUMAN	M	219	ENSP00000248923:T219M;ENSP00000393537:T219M;ENSP00000383232:T219M;ENSP00000383233:T219M;ENSP00000383231:T219M;ENSP00000385975:T219M	ENSP00000248923:T219M	T	+	2	0	GGT1	23346960	0.609000	0.26975	0.873000	0.34254	0.888000	0.51559	1.080000	0.30779	0.267000	0.21916	0.555000	0.69702	ACG	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250797.1		+	ENST00000400382.1	Missense_Mutation	SNP	22 : 25016960 - 25016960 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	147	6
GLE1	2733	broad.mit.edu	37	9	131295934	131295934	+	Splice_Site	SNP	G	G	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:131295934G>T	ENST00000309971.4	+	10	1561	c.1455G>T	c.(1453-1455)gtG>gtT	p.V485V	GLE1_ENST00000372770.4_Splice_Site_p.V485V|RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Splice_Site_p.V231V	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	485					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AGAAATTTGTGGTGAGAAACC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	116	112			NA	NA	9		NA											NA				131295934		2203	4300	6503	SO:0001630	splice_region_variant			AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392	2733	2733			4315	protein-coding gene	gene with protein product		603371	GLE1 (yeast homolog)-like, RNA export mediator, GLE1 RNA export mediator-like (yeast), GLE1 RNA export mediator (yeast), lethal congenital contracture syndrome 1, GLE1 RNA export mediator homolog (yeast)	GLE1L, LCCS1	NA	9618489, 18204449	Standard	NM_001003722	NM_001499	NA	Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1455+1G>T	9.37:g.131295934G>T		NA	O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	37	CCDS35154.1																																																																																			GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054456.1	Silent	+	ENST00000309971.4	Splice_Site	SNP	9 : 131295934 - 131295934 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	781	7
GLRA2	2742	broad.mit.edu	37	X	14708830	14708830	+	Splice_Site	SNP	A	A	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:14708830A>T	ENST00000218075.4	+	8	1460		c.e8-1		GLRA2_ENST00000355020.4_Splice_Site|GLRA2_ENST00000443437.2_Splice_Site	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	NA					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	tctctctctcAGGTCTCCTAT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	102	109			NA	NA	X		NA											NA				14708830		2203	4300	6503	SO:0001630	splice_region_variant				CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958	2742	2742		Ligand-gated ion channels / Glycine receptors	4327	protein-coding gene	gene with protein product		305990		GLR	NA		Standard		NM_002063	NA	Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.931-1A>T	X.37:g.14708830A>T		NA	A8K0J6|B2R6I8|Q53YX7|Q6ICQ0|Q99862	37	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.751109	0.49257	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2707	0.66149	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLRA2	14618751	1.000000	0.71417	0.962000	0.40283	0.316000	0.28119	9.195000	0.94971	1.817000	0.53016	0.345000	0.21793	.	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055829.1	Intron	+	ENST00000218075.4	Splice_Site	SNP	X : 14708830 - 14708830 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	333	5
GRIK3	2899	broad.mit.edu	37	1	37282815	37282815	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:37282815G>A	ENST00000373091.3	-	13	1953	c.1937C>T	c.(1936-1938)aCg>aTg	p.T646M	GRIK3_ENST00000373093.4_Missense_Mutation_p.T646M	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	646					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GATGATGAGCGTGAAGAACCA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	151	159			NA	NA	1		NA											NA				37282815		2203	4300	6503	SO:0001583	missense			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873	2899	2899		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4581	protein-coding gene	gene with protein product		138243			NA	8128318	Standard	NM_000831	NM_000831	NA	Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1937C>T	1.37:g.37282815G>A	ENSP00000362183:p.Thr646Met	NA	B1AMS6|Q13004|Q16136	37	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021642	0.93462	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.97455	-4.39;-4.39	5.74	5.74	0.90152	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.98642	0.9545	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99402	1.0928	10	0.87932	D	0	.	19.9326	0.97124	0.0:0.0:1.0:0.0	.	646;646	A9Z1Z8;Q13003	.;GRIK3_HUMAN	M	646	ENSP00000362183:T646M;ENSP00000362185:T646M	ENSP00000362183:T646M	T	-	2	0	GRIK3	37055402	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.869000	0.99810	2.720000	0.93068	0.650000	0.86243	ACG	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012053.1		-	ENST00000373091.3	Missense_Mutation	SNP	1 : 37282815 - 37282815 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	608	38
HIST2H2BF	440689	broad.mit.edu	37	1	149783726	149783726	+	Silent	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:149783726G>A	ENST00000369167.1	-	1	188	c.153C>T	c.(151-153)ccC>ccT	p.P51P	HIST2H2BF_ENST00000545683.1_Silent_p.P51P|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000427880.2_Silent_p.P51P	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	51					nucleosome assembly	nucleosome|nucleus	DNA binding	p.P51P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TGCCGGTGTCGGGGTGGACCT	0.592		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)											169	153	159			NA	NA	1		NA											NA				149783726		2203	4297	6500	SO:0001819	synonymous_variant			BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814	440689	440689		Histones / Replication-dependent	24700	protein-coding gene	gene with protein product			histone 2, H2bf		NA		Standard	NM_001024599	NM_001161334	NA	Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.153C>T	1.37:g.149783726G>A		NA	A8K0U9	37	CCDS30846.1																																																																																			HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033453.2		-	ENST00000369167.1	Silent	SNP	1 : 149783726 - 149783726 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	1584	20
HMBS	3145	broad.mit.edu	37	11	118955763	118955763	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:118955763C>T	ENST00000278715.3	+	1	171	c.20C>T	c.(19-21)gCg>gTg	p.A7V	HMBS_ENST00000442944.2_5'UTR|HMBS_ENST00000543090.1_Missense_Mutation_p.A7V|HMBS_ENST00000542729.1_5'UTR|HMBS_ENST00000544387.1_Missense_Mutation_p.A7V|HMBS_ENST00000537841.1_5'UTR	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	7					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		AACGGCAATGCGGCTGCAACG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	41	43			NA	NA	11		NA											NA				118955763		2200	4295	6495	SO:0001583	missense			X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	3145	3145	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	uroporphyrinogen I synthase, porphobilinogen deaminase, porphyria, acute; Chester type	PBGD, UPS, PORC	NA	8432552, 17298217	Standard	NM_000190	NM_001258208	NA	Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.20C>T	11.37:g.118955763C>T	ENSP00000278715:p.Ala7Val	NA	A8K2L0|P08396|Q16012	37	CCDS8409.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004515	0.54254	.	.	ENSG00000256269	ENST00000278715;ENST00000536813;ENST00000546302;ENST00000544387;ENST00000543090	D;D;D;D;D	0.99832	-7.02;-5.71;-6.09;-6.71;-6.91	5.55	-0.207	0.13189	.	0.410282	0.21922	N	0.067144	D	0.97955	0.9327	N	0.22421	0.69	0.18873	N	0.999989	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	D	0.99023	1.0818	10	0.18276	T	0.48	-1.7114	1.6993	0.02869	0.1664:0.3811:0.2802:0.1723	.	7;7;7	F5H345;G5EA58;P08397	.;.;HEM3_HUMAN	V	7	ENSP00000278715:A7V;ENSP00000438726:A7V;ENSP00000445599:A7V;ENSP00000438424:A7V;ENSP00000445429:A7V	ENSP00000278715:A7V	A	+	2	0	HMBS	118460973	0.037000	0.19845	0.044000	0.18714	0.485000	0.33311	0.342000	0.19926	0.062000	0.16340	0.650000	0.86243	GCG	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399188.1		+	ENST00000278715.3	Missense_Mutation	SNP	11 : 118955763 - 118955763 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	311	5
HOXD1	3231	broad.mit.edu	37	2	177054575	177054575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr2:177054575C>T	ENST00000331462.4	+	2	915	c.692C>T	c.(691-693)gCg>gTg	p.A231V		NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	231						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		CCCTCCAGCGCGATCCGCACG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	102	98			NA	NA	2		NA											NA				177054575		2203	4300	6503	SO:0001583	missense				CCDS2271.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128645	ENSG00000128645	3231	3231		Homeoboxes / ANTP class : HOXL subclass	5132	protein-coding gene	gene with protein product		142987	homeo box D1	HOX4, HOX4G	NA	1973146, 1358459	Standard		NM_024501	NA	Approved		uc002ukv.5	Q9GZZ0	OTTHUMG00000132512	ENST00000331462.4:c.692C>T	2.37:g.177054575C>T	ENSP00000328598:p.Ala231Val	NA	B2RAB4	37	CCDS2271.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934471	0.73442	.	.	ENSG00000128645	ENST00000331462	D	0.95656	-3.77	5.45	4.56	0.56223	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.288296	0.25122	N	0.032971	D	0.91676	0.7369	L	0.46157	1.445	0.43342	D	0.99539	P;B	0.44006	0.824;0.209	B;B	0.32465	0.146;0.073	D	0.90160	0.4227	10	0.33940	T	0.23	.	15.8297	0.78741	0.0:0.8637:0.1363:0.0	.	231;231	Q96CA4;Q9GZZ0	.;HXD1_HUMAN	V	231	ENSP00000328598:A231V	ENSP00000328598:A231V	A	+	2	0	HOXD1	176762821	1.000000	0.71417	0.982000	0.44146	0.976000	0.68499	6.063000	0.71162	1.273000	0.44346	0.655000	0.94253	GCG	HOXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255693.2		+	ENST00000331462.4	Missense_Mutation	SNP	2 : 177054575 - 177054575 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	972	15
HTR5A-AS1	0	broad.mit.edu	37	7	154862765	154862765	+	Silent	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr7:154862765G>A	ENST00000395731.2	-	1	502	c.249C>T	c.(247-249)gcC>gcT	p.A83A	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_Silent_p.A83A|HTR5A_ENST00000287907.2_Silent_p.A52A						NA											NA						TTCTGGTGGCGGCGACGTTCG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	74	80			NA	NA	7		NA											NA				154862765		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000395731.2:c.249C>T	7.37:g.154862765G>A		NA		37																																																																																				HTR5A-AS1-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000322238.1		-	ENST00000395731.2	Silent	SNP	7 : 154862765 - 154862765 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	374	8
INCENP	3619	broad.mit.edu	37	11	61897787	61897787	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:61897787C>T	ENST00000394818.3	+	4	990	c.788C>T	c.(787-789)tCc>tTc	p.S263F	INCENP_ENST00000278849.4_Missense_Mutation_p.S263F	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	263					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCGCAGGTCTCCCCTGGCCCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	62	62			NA	NA	11		NA											NA				61897787		2202	4299	6501	SO:0001583	missense			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503	3619	3619			6058	protein-coding gene	gene with protein product		604411	inner centromere protein antigens (135kD, 155kD)		NA	1860899, 11453556	Standard	NM_020238	NM_001040694	NA	Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.788C>T	11.37:g.61897787C>T	ENSP00000378295:p.Ser263Phe	NA	A8MQD2|Q5Y192	37	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338769	0.41398	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.16597	2.33;2.33	5.3	5.3	0.74995	.	0.412804	0.20464	N	0.091830	T	0.34193	0.0889	L	0.54323	1.7	0.43317	D	0.995338	D;D;P	0.62365	0.991;0.971;0.952	P;P;P	0.60473	0.687;0.875;0.753	T	0.02512	-1.1148	10	0.87932	D	0	.	14.4724	0.67526	0.0:1.0:0.0:0.0	.	263;263;263	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	F	263	ENSP00000378295:S263F;ENSP00000278849:S263F	ENSP00000278849:S263F	S	+	2	0	INCENP	61654363	0.092000	0.21681	0.980000	0.43619	0.238000	0.25445	2.050000	0.41297	2.492000	0.84095	0.462000	0.41574	TCC	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394723.2		+	ENST00000394818.3	Missense_Mutation	SNP	11 : 61897787 - 61897787 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	608	39
KCNB1	3745	broad.mit.edu	37	20	47990860	47990860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr20:47990860C>T	ENST00000371741.4	-	2	1403	c.1237G>A	c.(1237-1239)Gtc>Atc	p.V413I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	413					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAGTTATTGACGATGATGGGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	78	78			NA	NA	20		NA											NA				47990860		2203	4300	6503	SO:0001583	missense			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445	3745	3745		Potassium channels, Voltage-gated ion channels / Potassium channels	6231	protein-coding gene	gene with protein product		600397			NA	7774931, 16382104	Standard	NM_004975	NM_004975	NA	Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1237G>A	20.37:g.47990860C>T	ENSP00000360806:p.Val413Ile	NA	Q14193	37	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910860	0.72983	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.97620	-4.46	6.07	6.07	0.98685	.	0.132027	0.49305	D	0.000146	D	0.98388	0.9464	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.98623	1.0668	10	0.62326	D	0.03	.	20.2543	0.98414	0.0:1.0:0.0:0.0	.	413	Q14721	KCNB1_HUMAN	I	413;368	ENSP00000360806:V413I	ENSP00000360806:V413I	V	-	1	0	KCNB1	47424267	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	GTC	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080374.3		-	ENST00000371741.4	Missense_Mutation	SNP	20 : 47990860 - 47990860 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	466	17
KDR	3791	broad.mit.edu	37	4	55956204	55956204	+	Silent	SNP	C	C	T	rs147630437		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr4:55956204C>T	ENST00000263923.4	-	23	3406	c.3111G>A	c.(3109-3111)tcG>tcA	p.S1037S	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1037	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CGTTCTTCTCCGATAAGAGGA	0.428		NA	Mis		NSCLC, angiosarcoma					TSP Lung(20;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0								C		0,4406		0,0,2203	98	95	96		3111	-2.3	1	4	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KDR	NM_002253.2		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		1037/1357	55956204	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	3791	3791	2.7.10.1	CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6307	protein-coding gene	gene with protein product		191306			NA	1417831	Standard		NM_002253	NA	Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3111G>A	4.37:g.55956204C>T		NA	O60723|Q14178	37	CCDS3497.1																																																																																			KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250645.1		-	ENST00000263923.4	Silent	SNP	4 : 55956204 - 55956204 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	565	43
KIAA0430	9665	broad.mit.edu	37	16	15728761	15728761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr16:15728761C>T	ENST00000540441.2	-	4	923	c.859G>A	c.(859-861)Gct>Act	p.A287T	KIAA0430_ENST00000551742.1_Missense_Mutation_p.A287T|KIAA0430_ENST00000344181.3_Missense_Mutation_p.A109T|KIAA0430_ENST00000548025.1_Missense_Mutation_p.A287T|KIAA0430_ENST00000396368.3_Missense_Mutation_p.A287T|KIAA0430_ENST00000602337.1_Missense_Mutation_p.A287T			Q9Y4F3	LKAP_HUMAN	KIAA0430	286						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CAGACTTTAGCCGCATCGATT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													273	239	250			NA	NA	16		NA											NA				15728761		1902	4119	6021	SO:0001583	missense			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783	9665	9665		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	29562	protein-coding gene	gene with protein product	limkain b1, protein phosphatase 1, regulatory subunit 34, meiosis arrest female 1	614593			NA	9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647	NM_014647	NA	Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000540441.2:c.859G>A	16.37:g.15728761C>T	ENSP00000439819:p.Ala287Thr	NA	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|Q6P1R6|Q8WYR2|Q9Y4J9	37		.	.	.	.	.	.	.	.	.	.	C	19.81	3.895972	0.72639	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.42	5.42	0.78866	.	0.211356	0.49916	D	0.000125	T	0.48223	0.1488	L	0.54323	1.7	0.25621	N	0.9864	P;P;P;P	0.48089	0.905;0.817;0.817;0.847	P;B;B;B	0.48654	0.585;0.295;0.295;0.381	T	0.48927	-0.8991	9	0.59425	D	0.04	.	15.1059	0.72322	0.0:0.8589:0.1411:0.0	.	286;287;286;286	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	T	287;287;286;109;287;287;287	.	ENSP00000315718:A286T	A	-	1	0	KIAA0430	15636262	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.818000	0.48041	2.695000	0.91970	0.655000	0.94253	GCT	KIAA0430-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000403737.1		-	ENST00000540441.2	Missense_Mutation	SNP	16 : 15728761 - 15728761 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	647	8
KMT2D	8085	broad.mit.edu	37	12	49444897	49444897	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr12:49444897T>C	ENST00000301067.7	-	10	2568	c.2569A>G	c.(2569-2571)Aag>Gag	p.K857E		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						AGGGGTGGCTTCTCAAGCTCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	53	51			NA	NA	12		NA											NA				49444897		2009	4160	6169	SO:0001583	missense			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.2569A>G	12.37:g.49444897T>C	ENSP00000301067:p.Lys857Glu	NA		37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	t	7.838	0.721204	0.15372	.	.	ENSG00000167548	ENST00000301067	T	0.31769	1.48	3.31	-0.714	0.11219	.	.	.	.	.	T	0.12902	0.0313	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23833	-1.0177	9	0.87932	D	0	.	1.8986	0.03263	0.1607:0.4847:0.1567:0.1979	.	857	O14686	MLL2_HUMAN	E	857	ENSP00000301067:K857E	ENSP00000301067:K857E	K	-	1	0	MLL2	47731164	0.000000	0.05858	0.187000	0.23214	0.018000	0.09664	0.507000	0.22675	-0.157000	0.11059	-0.968000	0.02614	AAG	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390183.2		-	ENST00000301067.7	Missense_Mutation	SNP	12 : 49444897 - 49444897 C PAAD-TCGA-IB-7888-Tumor-SM-2NW83	676	52
KRTAP4-12	83755	broad.mit.edu	37	17	39280266	39280266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:39280266G>A	ENST00000394014.1	-	1	153	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	37	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCTGGGGCGGCAGCAGGTG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	48	43			NA	NA	17		NA											NA				39280266		2164	4264	6428	SO:0001583	missense			AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416	83755	83755		Keratin associated proteins	16776	protein-coding gene	gene with protein product					NA	11279113	Standard		NM_031854	NA	Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.109C>T	17.37:g.39280266G>A	ENSP00000377582:p.Arg37Cys	NA	A3KMC5|Q495I0	37	CCDS32649.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|.	12.21|12.21	1.870197|1.870197	0.33069|0.33069	.|.	.|.	ENSG00000213416|ENSG00000213416	ENST00000455597|ENST00000394014	.|T	.|0.00603	.|6.28	4.97|4.97	-1.26|-1.26	0.09376|0.09376	.|.	.|1.503340	.|0.05841	.|U	.|0.619340	.|T	.|0.00845	.|0.0028	M|M	0.79475|0.79475	2.455|2.455	0.33535|0.33535	D|D	0.594152|0.594152	.|B	.|0.33477	.|0.413	.|B	.|0.30646	.|0.118	.|T	.|0.39014	.|-0.9634	.|10	.|0.52906	.|T	.|0.07	.|.	3.2134|3.2134	0.06690|0.06690	0.0882:0.3778:0.2699:0.2641|0.0882:0.3778:0.2699:0.2641	.|.	.|37	.|Q9BQ66	.|KR412_HUMAN	.|C	-1|37	.|ENSP00000377582:R37C	.|ENSP00000377582:R37C	.|R	-|-	.|1	.|0	KRTAP4-12|KRTAP4-12	36533792|36533792	0.000000|0.000000	0.05858|0.05858	0.998000|0.998000	0.56505|0.56505	0.401000|0.401000	0.30781|0.30781	-0.818000|-0.818000	0.04467|0.04467	0.180000|0.180000	0.19960|0.19960	-0.519000|-0.519000	0.04390|0.04390	.|CGC	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257777.1		-	ENST00000394014.1	Missense_Mutation	SNP	17 : 39280266 - 39280266 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	670	9
KRTAP4-6	81871	broad.mit.edu	37	17	39296662	39296662	+	Silent	SNP	A	A	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:39296662A>G	ENST00000345847.4	-	1	77	c.78T>C	c.(76-78)tgT>tgC	p.C26C		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	26	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGGTGGTCTGACAGCAGCTGG	0.642		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:0001819	synonymous_variant			AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090	81871	81871		Keratin associated proteins	18909	protein-coding gene	gene with protein product			keratin associated protein 4-15	KRTAP4-15	NA		Standard		NM_030976	NA	Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.78T>C	17.37:g.39296662A>G		NA	Q9BYR1	37	CCDS54125.1																																																																																			KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257779.1		-	ENST00000345847.4	Silent	SNP	17 : 39296662 - 39296662 G PAAD-TCGA-IB-7888-Tumor-SM-2NW83	539	7
LAMP2	3920	broad.mit.edu	37	X	119576496	119576496	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:119576496G>T	ENST00000371335.4	-	7	1022	c.886C>A	c.(886-888)Ctg>Atg	p.L296M	LAMP2_ENST00000540603.1_Missense_Mutation_p.L249M|LAMP2_ENST00000434600.2_Missense_Mutation_p.L296M|LAMP2_ENST00000200639.4_Missense_Mutation_p.L296M|LAMP2_ENST00000538785.1_Missense_Mutation_p.L185M	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	296	Second lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						ACTTCCTTCAGATAAAATCGG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	192	195			NA	NA	X		NA											NA				119576496		2203	4300	6503	SO:0001583	missense			X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893	NA	3920		CD molecules	6501	protein-coding gene	gene with protein product		309060			NA		Standard		NM_002294	NA	Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000371335.4:c.886C>A	X.37:g.119576496G>T	ENSP00000360386:p.Leu296Met	NA	A8K4X5|D3DTF0|Q16641|Q96J30|Q99534|Q9UD93	37	CCDS14600.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.510196	0.64522	.	.	ENSG00000005893	ENST00000434600;ENST00000538785;ENST00000200639;ENST00000371335;ENST00000540603	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.34	4.48	0.54585	.	0.000000	0.64402	D	0.000002	T	0.76557	0.4004	M	0.91038	3.17	0.48288	D	0.999626	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.80625	-0.1299	10	0.72032	D	0.01	-9.4133	11.8331	0.52307	0.0878:0.0:0.9122:0.0	.	249;185;296;296;296	B4E2S7;B7Z2R9;P13473-2;P13473;Q6Q3G8	.;.;.;LAMP2_HUMAN;.	M	296;185;296;296;249	ENSP00000408411:L296M;ENSP00000440506:L185M;ENSP00000200639:L296M;ENSP00000360386:L296M;ENSP00000440479:L249M	ENSP00000200639:L296M	L	-	1	2	LAMP2	119460524	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.599000	0.67592	1.011000	0.39340	0.594000	0.82650	CTG	LAMP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058100.1		-	ENST00000371335.4	Missense_Mutation	SNP	X : 119576496 - 119576496 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	1423	87
LILRB2	10288	broad.mit.edu	37	19	54782813	54782813	+	Missense_Mutation	SNP	C	C	T	rs141001610	byFrequency	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:54782813C>T	ENST00000391748.1	-	6	936	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	LILRB2_ENST00000434421.1_Missense_Mutation_p.R154Q|LILRB2_ENST00000314446.5_Missense_Mutation_p.R270Q|LILRB2_ENST00000391746.1_Missense_Mutation_p.R270Q|LILRB2_ENST00000391749.4_Missense_Mutation_p.R270Q	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	270	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGGGCTGCCGGCCAGGGAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	58	57			NA	NA	19		NA											NA				54782813		2203	4300	6503	SO:0001583	missense			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042	NA	10288		Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6606	protein-coding gene	gene with protein product		604815			NA	9151699, 9079806	Standard		XM_006722966	NA	Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391748.1:c.809G>A	19.37:g.54782813C>T	ENSP00000375628:p.Arg270Gln	NA	O75017|Q8NHJ7|Q8NHJ8	37	CCDS42612.1	.	.	.	.	.	.	.	.	.	.	T	5.569	0.289861	0.10567	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00686	5.85;5.85;5.85;5.85;5.85	1.81	-1.39	0.08997	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.309270	0.00911	N	0.002460	T	0.00384	0.0012	N	0.02658	-0.545	0.09310	N	1	B;B;B	0.18310	0.023;0.013;0.027	B;B;B	0.19391	0.011;0.011;0.025	T	0.41945	-0.9480	10	0.02654	T	1	.	1.7023	0.02875	0.2971:0.3746:0.0:0.3284	.	270;287;270	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	Q	270;270;270;270;154	ENSP00000375628:R270Q;ENSP00000319960:R270Q;ENSP00000375629:R270Q;ENSP00000375626:R270Q;ENSP00000410117:R154Q	ENSP00000319960:R270Q	R	-	2	0	LILRB2	59474625	0.000000	0.05858	0.001000	0.08648	0.400000	0.30750	-2.978000	0.00664	-0.281000	0.09141	0.449000	0.29647	CGG	LILRB2-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139335.2		-	ENST00000391748.1	Missense_Mutation	SNP	19 : 54782813 - 54782813 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	527	6
MEGF8	1954	broad.mit.edu	37	19	42873053	42873053	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:42873053C>T	ENST00000334370.4	+	36	6974	c.6339C>T	c.(6337-6339)gaC>gaT	p.D2113D	MEGF8_ENST00000251268.6_Silent_p.D2180D	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2180	PSI 6.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCCTGAGGACGAGTGTGCAA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	91	89			NA	NA	19		NA											NA				42873053		2203	4300	6503	SO:0001819	synonymous_variant			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429	1954	1954			3233	protein-coding gene	gene with protein product	HBV pre s2 binding protein 1	604267	EGF-like-domain, multiple 4, chromosome 19 open reading frame 49	EGFL4, C19orf49	NA	9693030	Standard	NM_001410	NM_001410	NA	Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000334370.4:c.6339C>T	19.37:g.42873053C>T		NA	A8KAY0|O75097	37	CCDS12604.2																																																																																			MEGF8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317695.1		+	ENST00000334370.4	Silent	SNP	19 : 42873053 - 42873053 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	575	36
MELK	9833	broad.mit.edu	37	9	36670999	36670999	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:36670999C>T	ENST00000298048.2	+	16	1694	c.1510C>T	c.(1510-1512)Cgc>Tgc	p.R504C	MELK_ENST00000543751.1_Missense_Mutation_p.R472C|MELK_ENST00000536987.1_Missense_Mutation_p.R373C|MELK_ENST00000545008.1_Missense_Mutation_p.R433C|MELK_ENST00000538311.1_Missense_Mutation_p.R310C|MELK_ENST00000536329.1_Missense_Mutation_p.R433C|MELK_ENST00000536860.1_Missense_Mutation_p.R456C|MELK_ENST00000541717.1_Missense_Mutation_p.R463C	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	504						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.R504C(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TTTCAGGTGCCGCTCAGTGGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(82;980 1317 7225 14391 18624)							NA				2	Substitution - Missense(2)	ovary(1)|large_intestine(1)						C	CYS/ARG	0,4406		0,0,2203	103	100	101		1510	5.9	1	9		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	MELK	NM_014791.2	180	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	504/652	36670999	1,13005	2203	4300	6503	SO:0001583	missense			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304	9833	9833			16870	protein-coding gene	gene with protein product		607025			NA	8724849, 9136115	Standard	NM_014791	NM_001256689	NA	Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1510C>T	9.37:g.36670999C>T	ENSP00000298048:p.Arg504Cys	NA	B1AMQ6|D3DRP8|Q7L3C3	37	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455826	0.84209	0.0	1.16E-4	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.73789	-0.58;0.39;0.17;0.71;0.08;-0.78;-0.56;-0.59	5.95	5.95	0.96441	.	0.099925	0.64402	D	0.000001	D	0.85279	0.5660	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;0.999;0.999	D;D;D;D;D;P;P	0.70716	0.97;0.97;0.921;0.921;0.911;0.886;0.886	D	0.84401	0.0560	10	0.54805	T	0.06	-9.996	20.3932	0.98965	0.0:1.0:0.0:0.0	.	424;433;456;463;433;472;504	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	C	504;310;373;433;456;433;463;472	ENSP00000298048:R504C;ENSP00000438226:R310C;ENSP00000439184:R373C;ENSP00000445452:R433C;ENSP00000439792:R456C;ENSP00000443550:R433C;ENSP00000437804:R463C;ENSP00000441596:R472C	ENSP00000298048:R504C	R	+	1	0	MELK	36660999	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.420000	0.52735	2.824000	0.97209	0.655000	0.94253	CGC	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052428.3		+	ENST00000298048.2	Missense_Mutation	SNP	9 : 36670999 - 36670999 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	629	32
MKI67	4288	broad.mit.edu	37	10	129906577	129906577	+	Missense_Mutation	SNP	G	G	A	rs117795868	by1000genomes	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr10:129906577G>A	ENST00000368654.3	-	13	3902	c.3527C>T	c.(3526-3528)aCg>aTg	p.T1176M	MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1176	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGTTTGGGCGTAAGCATGGC	0.463		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0													292	278	283			NA	NA	10		NA											NA				129906577		2203	4300	6503	SO:0001583	missense			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773	4288	4288			7107	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 105	176741	antigen identified by monoclonal antibody Ki-67		NA	2571566, 16206250	Standard	NM_002417	NM_002417	NA	Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3527C>T	10.37:g.129906577G>A	ENSP00000357643:p.Thr1176Met	NA	Q5VWH2	37	CCDS7659.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.05	1.822665	0.32237	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03301	3.98;3.98	2.74	1.83	0.25207	.	1.848640	0.03443	N	0.209516	T	0.15998	0.0385	M	0.72118	2.19	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.96;0.991;0.989	T	0.06058	-1.0848	10	0.52906	T	0.07	.	5.4955	0.16799	0.1565:0.0:0.8435:0.0	.	1175;816;1176	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	M	1176;816;1175	ENSP00000357643:T1176M;ENSP00000357642:T816M	ENSP00000357642:T816M	T	-	2	0	MKI67	129796567	0.005000	0.15991	0.002000	0.10522	0.005000	0.04900	0.110000	0.15437	0.740000	0.32651	0.462000	0.41574	ACG	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050999.1		-	ENST00000368654.3	Missense_Mutation	SNP	10 : 129906577 - 129906577 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	1600	9
MUC4	4585	broad.mit.edu	37	3	195515980	195515980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr3:195515980G>T	ENST00000463781.3	-	2	2930	c.2471C>A	c.(2470-2472)tCa>tAa	p.S824*	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.S824*	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	829	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CGTCTCTCCTGAGGTGGATAT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	94	91			NA	NA	3		NA											NA				195515980		2155	4250	6405	SO:0001587	stop_gained			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113	4585	4585		Mucins	7514	protein-coding gene	gene with protein product		158372	mucin 4, tracheobronchial		NA	1673336	Standard	NM_018406	NM_004532	NA	Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2471C>A	3.37:g.195515980G>T	ENSP00000417498:p.Ser824*	NA	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	37	6.249658	0.97412	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	.	.	.	3.5	1.63	0.23807	.	2.354170	0.02108	N	0.054574	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5202	5.4797	0.16717	0.1201:0.2045:0.6753:0.0	.	.	.	.	X	824;824;798	.	ENSP00000376209:S798X	S	-	2	0	MUC4	197000375	0.027000	0.19231	0.000000	0.03702	0.004000	0.04260	3.437000	0.52863	0.260000	0.21731	0.627000	0.83407	TCA	MUC4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324081.6		-	ENST00000463781.3	Nonsense_Mutation	SNP	3 : 195515980 - 195515980 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	593	48
NOX4	50507	broad.mit.edu	37	11	89106611	89106611	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:89106611C>T	ENST00000535633.1	-	12	1362	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	NOX4_ENST00000343727.5_Missense_Mutation_p.G351E|NOX4_ENST00000527956.1_Missense_Mutation_p.G351E|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000534731.1_Missense_Mutation_p.G375E|NOX4_ENST00000424319.1_Missense_Mutation_p.G351E|NOX4_ENST00000542487.1_Missense_Mutation_p.G351E|NOX4_ENST00000413594.2_Missense_Mutation_p.G396E|NOX4_ENST00000528341.1_Missense_Mutation_p.G350E|NOX4_ENST00000375979.3_Missense_Mutation_p.G68E|NOX4_ENST00000263317.4_Missense_Mutation_p.G375E|NOX4_ENST00000531342.1_Missense_Mutation_p.G68E|NOX4_ENST00000532825.1_Missense_Mutation_p.G351E|NOX4_ENST00000527626.1_Missense_Mutation_p.G209E	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	375	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.G375E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TGTCCAGTCTCCTACTATTTT	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											100	110	107			NA	NA	11		NA											NA				89106611		2201	4283	6484	SO:0001583	missense			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991	50507	50507			7891	protein-coding gene	gene with protein product		605261			NA		Standard	NM_016931	NM_001143837	NA	Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000535633.1:c.1052G>A	11.37:g.89106611C>T	ENSP00000440172:p.Gly351Glu	NA	A8K715|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	37	CCDS44696.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.057366	0.55325	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	T;T;T;T;T;T;T;T;T;T;T;D;D	0.98012	1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;-4.05;-4.66	5.12	5.12	0.69794	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98757	0.9582	M	0.87971	2.92	0.52501	D	0.999951	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.992;0.998;1.0;0.999;1.0	D	0.99505	1.0954	9	.	.	.	-12.7557	15.4797	0.75514	0.0:1.0:0.0:0.0	.	351;209;350;68;68;375;375	E9PMY6;E9PR43;E9PPP2;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;NOX4_HUMAN	E	351;351;351;375;375;351;351;351;209;350;396;68;68	ENSP00000412446:G351E;ENSP00000440172:G351E;ENSP00000344747:G351E;ENSP00000436892:G375E;ENSP00000263317:G375E;ENSP00000434924:G351E;ENSP00000433797:G351E;ENSP00000439373:G351E;ENSP00000436093:G209E;ENSP00000436970:G350E;ENSP00000405705:G396E;ENSP00000435039:G68E;ENSP00000365146:G68E	.	G	-	2	0	NOX4	88746259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.868000	0.63021	2.382000	0.81193	0.563000	0.77884	GGA	NOX4-203	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394051.1		-	ENST00000535633.1	Missense_Mutation	SNP	11 : 89106611 - 89106611 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	802	10
NPHS1	4868	broad.mit.edu	37	19	36322199	36322199	+	Splice_Site	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:36322199G>A	ENST00000378910.5	-	26	3385	c.3386C>T	c.(3385-3387)aCg>aTg	p.T1129M	NPHS1_ENST00000353632.6_Splice_Site_p.T1089M	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1129					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCACTTACCGTGGAGCTCTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	73	76			NA	NA	19		NA											NA				36322199		2203	4300	6503	SO:0001630	splice_region_variant				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270	4868	4868		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	7908	protein-coding gene	gene with protein product		602716			NA	9915943, 9660941	Standard		NM_004646	NA	Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3387+1C>T	19.37:g.36322199G>A		NA	A6NDH2|C3RX61	37	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	G	6.172	0.399943	0.11696	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.75154	-0.79;-0.91	5.07	1.79	0.24919	.	0.218040	0.40144	N	0.001180	T	0.57227	0.2039	L	0.29908	0.895	0.23969	N	0.996316	B	0.13145	0.007	B	0.11329	0.006	T	0.41324	-0.9515	10	0.29301	T	0.29	-2.7895	7.28	0.26306	0.2727:0.0:0.7273:0.0	.	1129	O60500	NPHN_HUMAN	M	1129;1089	ENSP00000368190:T1129M;ENSP00000343634:T1089M	ENSP00000343634:T1089M	T	-	2	0	NPHS1	41014039	0.000000	0.05858	0.392000	0.26245	0.023000	0.10783	-0.642000	0.05427	0.336000	0.23639	0.442000	0.29010	ACG	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452553.1	Missense_Mutation	-	ENST00000378910.5	Splice_Site	SNP	19 : 36322199 - 36322199 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	563	36
NXPH1	30010	broad.mit.edu	37	7	8790918	8790918	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr7:8790918C>T	ENST00000405863.1	+	3	1246	c.335C>T	c.(334-336)aCg>aTg	p.T112M	NXPH1_ENST00000602349.1_5'UTR|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	112	III.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		ATTGTTAAAACGGGCAAGTTT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	76	77			NA	NA	7		NA											NA				8790918		1838	4082	5920	SO:0001583	missense			AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584	30010	30010			20693	protein-coding gene	gene with protein product		604639			NA	9570794	Standard	NM_152745	NM_152745	NA	Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.335C>T	7.37:g.8790918C>T	ENSP00000384551:p.Thr112Met	NA	Q8NB31	37	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220768	0.58560	.	.	ENSG00000122584	ENST00000405863;ENST00000438764;ENST00000429542	.	.	.	6.07	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.79458	0.4449	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82293	-0.0529	9	0.72032	D	0.01	-8.2624	16.7467	0.85474	0.1304:0.8696:0.0:0.0	.	112	P58417	NXPH1_HUMAN	M	112	.	ENSP00000384551:T112M	T	+	2	0	NXPH1	8757443	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	1.553000	0.49476	0.655000	0.94253	ACG	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324591.1		+	ENST00000405863.1	Missense_Mutation	SNP	7 : 8790918 - 8790918 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	515	35
OR1F1	4992	broad.mit.edu	37	16	3254568	3254568	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr16:3254568G>A	ENST00000304646.2	+	1	322	c.322G>A	c.(322-324)Gtg>Atg	p.V108M	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TTTCATGTTCGTGGACATGGA	0.502		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	5e-04	SNP								NA				0													240	200	214			NA	NA	16		NA											NA				3254568		2197	4300	6497	SO:0001583	missense			Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124	4992	4992		GPCR / Class A : Olfactory receptors	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P	NA	9288094, 9500546	Standard		NM_012360	NA	Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.322G>A	16.37:g.3254568G>A	ENSP00000305424:p.Val108Met	NA	O15246|Q6IFL5	37	CCDS10496.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.982	0.751473	0.15778	.	.	ENSG00000168124	ENST00000304646	T	0.01347	4.99	5.27	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	1.285220	0.05451	N	0.549523	T	0.03434	0.0099	M	0.69823	2.125	0.09310	N	1	B	0.26876	0.162	B	0.17722	0.019	T	0.46803	-0.9165	10	0.66056	D	0.02	.	11.7749	0.51981	0.087:0.0:0.913:0.0	.	108	O43749	OR1F1_HUMAN	M	108	ENSP00000305424:V108M	ENSP00000305424:V108M	V	+	1	0	OR1F1	3194569	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	0.205000	0.17356	1.216000	0.43427	0.393000	0.25936	GTG	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206985.1		+	ENST00000304646.2	Missense_Mutation	SNP	16 : 3254568 - 3254568 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	967	8
OR1N2	138882	broad.mit.edu	37	9	125316158	125316158	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:125316158G>A	ENST00000373688.2	+	1	768	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	237			R -> C (in dbSNP:rs41316976).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTATGTCCGCATTTTCTGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													252	239	243			NA	NA	9		NA											NA				125316158		2203	4300	6503	SO:0001583	missense				CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501	138882	138882		GPCR / Class A : Olfactory receptors	15111	protein-coding gene	gene with protein product					NA		Standard		NM_001004457	NA	Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.710G>A	9.37:g.125316158G>A	ENSP00000362792:p.Arg237His	NA	A3KFM2|B2RNY4|Q6IF17|Q96RA3	37	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	1.404	-0.577288	0.03854	.	.	ENSG00000171501	ENST00000373688	T	0.00107	8.72	4.56	-0.82	0.10826	GPCR, rhodopsin-like superfamily (1);	0.976894	0.08366	N	0.956924	T	0.00109	0.0003	N	0.17594	0.5	0.09310	N	1	B	0.16396	0.017	B	0.20184	0.028	T	0.01225	-1.1413	10	0.28530	T	0.3	.	4.6663	0.12668	0.5603:0.0:0.2724:0.1672	.	237	Q8NGR9	OR1N2_HUMAN	H	237	ENSP00000362792:R237H	ENSP00000362792:R237H	R	+	2	0	OR1N2	124355979	0.000000	0.05858	0.004000	0.12327	0.987000	0.75469	-2.545000	0.00933	-0.028000	0.13850	0.644000	0.83932	CGC	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053937.2		+	ENST00000373688.2	Missense_Mutation	SNP	9 : 125316158 - 125316158 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	832	8
OR1S1	219959	broad.mit.edu	37	11	57982249	57982249	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:57982249C>T	ENST00000309433.6	+	1	33	c.33C>T	c.(31-33)ggC>ggT	p.G11G		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TTCAGATCGGCAGAAATATGC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	136	141			NA	NA	11		NA											NA				57982249		2201	4296	6497	SO:0001819	synonymous_variant			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774	219959	219959		GPCR / Class A : Olfactory receptors	8227	protein-coding gene	gene with protein product					NA		Standard	NM_001004458	NM_001004458	NA	Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.33C>T	11.37:g.57982249C>T		NA	Q6IFG3	37	CCDS31546.1																																																																																			OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394705.1		+	ENST00000309433.6	Silent	SNP	11 : 57982249 - 57982249 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	567	11
OR8K5	219453	broad.mit.edu	37	11	55927158	55927158	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:55927158C>T	ENST00000313447.1	-	1	635	c.636G>A	c.(634-636)ctG>ctA	p.L212L		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CTAAGACTATCAGAAAGGAGG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	68	67			NA	NA	11		NA											NA				55927158		2201	4296	6497	SO:0001819	synonymous_variant			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752	219453	219453		GPCR / Class A : Olfactory receptors	15315	protein-coding gene	gene with protein product					NA		Standard	NM_001004058	NM_001004058	NA	Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.636G>A	11.37:g.55927158C>T		NA	Q6IFB5	37	CCDS31521.1																																																																																			OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391543.1		-	ENST00000313447.1	Silent	SNP	11 : 55927158 - 55927158 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	360	21
PCDHA6	56142	broad.mit.edu	37	5	140209350	140209350	+	Silent	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:140209350G>A	ENST00000529310.1	+	1	1788	c.1674G>A	c.(1672-1674)gaG>gaA	p.E558E	PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			protocadherin alpha 6	NA										NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGACGAGAACGACAACG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	77	75			NA	NA	5		NA											NA				140209350		2202	4299	6501	SO:0001819	synonymous_variant			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842	56142	56142		Cadherins / Protocadherins : Clustered	8672	other	complex locus constituent	KIAA0345-like 8	606312		CNRS2	NA	10380929, 10662547	Standard	NM_018909	NM_018909	NA	Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1674G>A	5.37:g.140209350G>A		NA		37	CCDS47281.1																																																																																			PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372829.3		+	ENST00000529310.1	Silent	SNP	5 : 140209350 - 140209350 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	995	8
PCDHGA8	9708	broad.mit.edu	37	5	140774356	140774356	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:140774356C>T	ENST00000398604.2	+	1	1976	c.1976C>T	c.(1975-1977)aCg>aTg	p.T659M	PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_032088.1	NP_114477.1			protocadherin gamma subfamily A, 8	NA										endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACTGTCACGCTCACCGTA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	42	40			NA	NA	5		NA											NA				140774356		2202	4298	6500	SO:0001583	missense			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767	9708	9708		Cadherins / Protocadherins : Clustered	8706	other	protocadherin		606295			NA	10380929	Standard	NM_032088	NM_014004	NA	Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1976C>T	5.37:g.140774356C>T	ENSP00000381605:p.Thr659Met	NA		37	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	10.15	1.270078	0.23221	.	.	ENSG00000253767	ENST00000398604	T	0.55588	0.51	4.99	0.815	0.18763	Cadherin (4);Cadherin-like (1);	0.284430	0.17574	U	0.169343	T	0.64260	0.2582	M	0.77103	2.36	0.09310	N	0.999997	D;D	0.71674	0.974;0.998	P;P	0.58820	0.656;0.846	T	0.56123	-0.8031	10	0.72032	D	0.01	.	8.7668	0.34708	0.0:0.6668:0.1188:0.2144	.	659;659	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	M	659	ENSP00000381605:T659M	ENSP00000381605:T659M	T	+	2	0	PCDHGA8	140754540	0.000000	0.05858	0.009000	0.14445	0.315000	0.28087	0.251000	0.18257	0.182000	0.20032	-0.156000	0.13503	ACG	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376972.1		+	ENST00000398604.2	Missense_Mutation	SNP	5 : 140774356 - 140774356 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	429	21
PHF10	55274	broad.mit.edu	37	6	170118958	170118958	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:170118958G>A	ENST00000339209.4	-	3	374	c.251C>T	c.(250-252)aCa>aTa	p.T84I	PHF10_ENST00000366780.4_Missense_Mutation_p.T84I|PHF10_ENST00000464779.1_5'UTR	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	84					nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		GTATTCTCCTGTTTCATCAGG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	76	75			NA	NA	6		NA											NA				170118958		2203	4293	6496	SO:0001583	missense			AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024	55274	55274		Zinc fingers, PHD-type	18250	protein-coding gene	gene with protein product		613069			NA	11827455	Standard	NM_018288	NM_018288	NA	Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.251C>T	6.37:g.170118958G>A	ENSP00000341805:p.Thr84Ile	NA	Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	37	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629915	0.67015	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	T;T	0.29397	1.57;1.57	5.49	5.49	0.81192	.	.	.	.	.	T	0.19927	0.0479	L	0.44542	1.39	0.53005	D	0.999969	B;B	0.34329	0.449;0.321	B;B	0.35413	0.202;0.1	T	0.03483	-1.1032	9	0.59425	D	0.04	.	16.8851	0.86074	0.0:0.0:1.0:0.0	.	84;84	Q8WUB8-2;Q8WUB8	.;PHF10_HUMAN	I	84	ENSP00000355743:T84I;ENSP00000341805:T84I	ENSP00000341805:T84I	T	-	2	0	PHF10	169860883	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.257000	0.78362	2.724000	0.93272	0.557000	0.71058	ACA	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346732.1		-	ENST00000339209.4	Missense_Mutation	SNP	6 : 170118958 - 170118958 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	450	8
POLK	51426	broad.mit.edu	37	5	74893770	74893770	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:74893770T>C	ENST00000241436.4	+	15	2712	c.2540T>C	c.(2539-2541)aTg>aCg	p.M847T	POLK_ENST00000380481.3_Missense_Mutation_p.M757T|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000352007.5_Missense_Mutation_p.M649T|POLK_ENST00000508526.1_Missense_Mutation_p.M649T|POLK_ENST00000504026.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	847				M -> V (in Ref. 3; AAF23270).	DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CCAGGATTGATGACAAAGTAC	0.244		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	50	49			NA	NA	5		NA											NA				74893770		2201	4285	6486	SO:0001583	missense			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008	51426	51426		DNA polymerases	9183	protein-coding gene	gene with protein product	polymerase (DNA-directed) kappa, DINB protein, DNA polymerase kappa	605650		DINB1	NA	10887153, 10518552	Standard	NM_016218	NM_016218	NA	Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.2540T>C	5.37:g.74893770T>C	ENSP00000241436:p.Met847Thr	NA	B2RBD2|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	37	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.252983	0.22965	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.52754	1.38;0.65;0.65;1.38	5.22	-2.08	0.07254	.	0.820001	0.11842	N	0.524186	T	0.24431	0.0592	L	0.34521	1.04	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.32295	-0.9912	10	0.02654	T	1	-0.5908	3.4503	0.07495	0.4082:0.2354:0.0:0.3564	.	649;847	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	T	847;649;649;757	ENSP00000241436:M847T;ENSP00000342256:M649T;ENSP00000426853:M649T;ENSP00000369848:M757T	ENSP00000241436:M847T	M	+	2	0	POLK	74929526	0.000000	0.05858	0.004000	0.12327	0.939000	0.58152	-0.694000	0.05115	-0.514000	0.06488	-0.333000	0.08304	ATG	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219945.3		+	ENST00000241436.4	Missense_Mutation	SNP	5 : 74893770 - 74893770 C PAAD-TCGA-IB-7888-Tumor-SM-2NW83	289	24
PTBP2	58155	broad.mit.edu	37	1	97250690	97250690	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:97250690G>C	ENST00000609116.1	+	8	866	c.784G>C	c.(784-786)Gta>Cta	p.V262L	PTBP2_ENST00000541987.1_Missense_Mutation_p.V231L|PTBP2_ENST00000370197.1_Missense_Mutation_p.V262L|PTBP2_ENST00000426398.2_Missense_Mutation_p.V262L|PTBP2_ENST00000394184.3_Missense_Mutation_p.V273L|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Missense_Mutation_p.V262L			Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	NA							nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GAATTTGAATGTAAAATACAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	122	122			NA	NA	1		NA											NA				97250690		2203	4300	6503	SO:0001583	missense			AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569	58155	58155		RNA binding motif (RRM) containing	17662	protein-coding gene	gene with protein product		608449			NA	11003644	Standard		XM_005271084	NA	Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000609116.1:c.784G>C	1.37:g.97250690G>C	ENSP00000477024:p.Val262Leu	NA	Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	37		.	.	.	.	.	.	.	.	.	.	G	18.57	3.652675	0.67472	.	.	ENSG00000117569	ENST00000236228;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184;ENST00000541987;ENST00000394176	T;T;T;T;T;D	0.83837	0.25;0.29;0.3;0.25;0.29;-1.77	5.57	5.57	0.84162	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.91164	0.7217	M	0.81341	2.54	0.80722	D	1	B;B;P;B;B;B	0.34800	0.06;0.339;0.469;0.006;0.004;0.046	B;P;P;B;B;B	0.59115	0.18;0.716;0.852;0.118;0.227;0.235	D	0.90767	0.4669	10	0.87932	D	0	.	19.5464	0.95299	0.0:0.0:1.0:0.0	.	270;273;262;262;262;262	B4DSU5;B4DSS8;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3	.;.;.;PTBP2_HUMAN;.;.	L	262;262;262;262;273;231;252	ENSP00000236228:V262L;ENSP00000359217:V262L;ENSP00000359216:V262L;ENSP00000412788:V262L;ENSP00000377738:V273L;ENSP00000442475:V231L	ENSP00000236228:V262L	V	+	1	0	PTBP2	97023278	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.629000	0.89072	0.591000	0.81541	GTA	PTBP2-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000029452.2		+	ENST00000609116.1	Missense_Mutation	SNP	1 : 97250690 - 97250690 C PAAD-TCGA-IB-7888-Tumor-SM-2NW83	531	28
PTK2B	2185	broad.mit.edu	37	8	27288476	27288476	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr8:27288476C>T	ENST00000397501.1	+	13	1561	c.753C>T	c.(751-753)ttC>ttT	p.F251F	PTK2B_ENST00000517339.1_Silent_p.F251F|PTK2B_ENST00000420218.2_Silent_p.F251F|PTK2B_ENST00000346049.5_Silent_p.F251F|PTK2B_ENST00000544172.1_Silent_p.F251F|PTK2B_ENST00000338238.4_Silent_p.F251F|PTK2B_ENST00000397497.4_5'UTR	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	251	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TGAAGTTCTTCAACACTCTCG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	133	139			NA	NA	8		NA											NA				27288476		2203	4300	6503	SO:0001819	synonymous_variant			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899	2185	2185			9612	protein-coding gene	gene with protein product		601212	protein tyrosine kinase 2 beta, PTK2B protein tyrosine kinase 2 beta	FAK2	NA	7544443, 7499242	Standard	NM_004103	NM_173174	NA	Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.753C>T	8.37:g.27288476C>T		NA	D3DST0|Q13475|Q14290|Q16709	37	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608253	0.28623	.	.	ENSG00000120899	ENST00000519512	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1808	0.59653	0.0:0.8401:0.1599:0.0	.	.	.	.	X	25	.	.	Q	+	1	0	PTK2B	27344393	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	0.490000	0.22403	2.735000	0.93741	0.655000	0.94253	CAA	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219916.1		+	ENST00000397501.1	Silent	SNP	8 : 27288476 - 27288476 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	587	31
PYGO1	26108	broad.mit.edu	37	15	55838323	55838323	+	Silent	SNP	T	T	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr15:55838323T>C	ENST00000302000.6	-	3	1252	c.1158A>G	c.(1156-1158)gcA>gcG	p.A386A	PYGO1_ENST00000563719.1_Silent_p.A386A	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	386					Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		ATACTGCAGATGCTTCTGCAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	101	108			NA	NA	15		NA											NA				55838323		2193	4292	6485	SO:0001819	synonymous_variant			AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016	26108	26108		Zinc fingers, PHD-type	30256	protein-coding gene	gene with protein product		606902	pygopus homolog 1 (Drosophila)		NA	11988739	Standard	NM_015617	NM_015617	NA	Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.1158A>G	15.37:g.55838323T>C		NA		37	CCDS10155.1																																																																																			PYGO1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254977.2		-	ENST00000302000.6	Silent	SNP	15 : 55838323 - 55838323 C PAAD-TCGA-IB-7888-Tumor-SM-2NW83	571	42
RALGAPA2	57186	broad.mit.edu	37	20	20493321	20493321	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr20:20493321A>C	ENST00000202677.7	-	32	4699	c.4692T>G	c.(4690-4692)atT>atG	p.I1564M		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	NA					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTTGGCGCAAAATGACCTCAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	129	132			NA	NA	20		NA											NA				20493321		1926	4143	6069	SO:0001583	missense			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559	57186	57186			16207	protein-coding gene	gene with protein product			chromosome 20 open reading frame 74	C20orf74	NA	16490346, 19520869	Standard	NM_020343	NM_020343	NA	Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4692T>G	20.37:g.20493321A>C	ENSP00000202677:p.Ile1564Met	NA	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	37	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.96|12.96	2.094340|2.094340	0.36952|0.36952	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677	.|D	.|0.93953	.|-3.32	5.97|5.97	-2.19|-2.19	0.07015|0.07015	.|.	.|0.185757	.|0.47093	.|D	.|0.000246	D|D	0.92967|0.92967	0.7762|0.7762	M|M	0.84326|0.84326	2.69|2.69	0.23150|0.23150	N|N	0.998215|0.998215	.|P;P;P	.|0.52463	.|0.745;0.953;0.852	.|B;P;P	.|0.54924	.|0.41;0.737;0.764	D|D	0.85470|0.85470	0.1172|0.1172	5|9	.|.	.|.	.|.	.|.	0.7294|0.7294	0.00955|0.00955	0.3729:0.2028:0.2455:0.1788|0.3729:0.2028:0.2455:0.1788	.|.	.|1402;1564;1564	.|A8MSM5;Q2PPJ7-2;Q2PPJ7	.|.;.;RGPA2_HUMAN	C|M	1381|1564	.|ENSP00000202677:I1564M	.|.	F|I	-|-	2|3	0|3	RALGAPA2|RALGAPA2	20441321|20441321	0.025000|0.025000	0.19082|0.19082	0.786000|0.786000	0.31890|0.31890	0.938000|0.938000	0.57974|0.57974	-0.042000|-0.042000	0.12063|0.12063	-0.312000|-0.312000	0.08741|0.08741	0.459000|0.459000	0.35465|0.35465	TTT|ATT	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000471941.1		-	ENST00000202677.7	Missense_Mutation	SNP	20 : 20493321 - 20493321 C PAAD-TCGA-IB-7888-Tumor-SM-2NW83	412	25
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	103	101			NA	NA	2		NA											NA				109371498		2198	4282	6480	SO:0001819	synonymous_variant			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201	5903	5903		Tetratricopeptide (TTC) repeat domain containing	9848	protein-coding gene	gene with protein product		601181	acute necrotizing encephalopathy 1 (autosomal dominant)	ANE1	NA	7724562, 19118815	Standard	NM_006267	NM_006267	NA	Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A		NA	Q13074|Q15280|Q53TE2|Q59FH7	37	CCDS2079.1																																																																																			RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253594.1		+	ENST00000283195.6	Silent	SNP	2 : 109371498 - 109371498 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	1140	7
RCBTB2	1102	broad.mit.edu	37	13	49070346	49070346	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr13:49070346G>A	ENST00000344532.3	-	14	1919	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	RCBTB2_ENST00000430805.2_Missense_Mutation_p.A504V|RCBTB2_ENST00000544492.1_Missense_Mutation_p.A225V	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	499	BTB 2.						Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		ATACTTCACCGCAGCCGAGAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	81	83			NA	NA	13		NA											NA				49070346		2203	4300	6503	SO:0001583	missense			AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161	1102	1102		BTB/POZ domain containing	1914	protein-coding gene	gene with protein product		603524	chromosome condensation 1-like	CHC1L	NA	9806834	Standard	NM_001268	XM_005266242	NA	Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1496C>T	13.37:g.49070346G>A	ENSP00000345144:p.Ala499Val	NA	B2RDW8	37	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	g	14.03	2.412381	0.42817	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;D	0.84800	-1.03;-1.04;-1.9	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.86669	0.5988	M	0.82323	2.585	0.80722	D	1	P;P;P;P	0.40144	0.514;0.699;0.704;0.699	B;B;B;B	0.36244	0.086;0.22;0.137;0.22	D	0.89133	0.3511	10	0.66056	D	0.02	.	18.7477	0.91800	0.0:0.0:1.0:0.0	.	225;504;451;499	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	V	499;451;504;504;225	ENSP00000345144:A499V;ENSP00000389910:A504V;ENSP00000443862:A225V	ENSP00000345144:A499V	A	-	2	0	RCBTB2	47968347	1.000000	0.71417	0.192000	0.23308	0.093000	0.18481	9.372000	0.97165	2.499000	0.84300	0.558000	0.71614	GCG	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044888.2		-	ENST00000344532.3	Missense_Mutation	SNP	13 : 49070346 - 49070346 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	390	20
RET	5979	broad.mit.edu	37	10	43596003	43596003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr10:43596003G>A	ENST00000355710.3	+	2	402	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	RET_ENST00000340058.5_Missense_Mutation_p.R57Q	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	57					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CATGCCCTGCGGGACGCCCCT	0.622		1	T, Mis, N, F	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	medullary thyroid,  papillary thyroid, pheochromocytoma	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	E, O	0													74	64	67			NA	NA	10		NA											NA				43596003		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731	5979	5979		Cadherins / Cadherin-related	9967	protein-coding gene	gene with protein product	cadherin-related family member 16	164761	multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease 1	HSCR1, MEN2A, MTC1, MEN2B	NA	2687772, 1611909	Standard	NM_020975	NM_020975	NA	Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.170G>A	10.37:g.43596003G>A	ENSP00000347942:p.Arg57Gln	NA	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	7.893	0.732679	0.15507	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.80566	-1.27;-1.39	5.51	-2.98	0.05513	.	0.511992	0.21682	N	0.070717	T	0.62159	0.2405	N	0.17474	0.49	0.20703	N	0.999866	B;B	0.27656	0.068;0.184	B;B	0.12156	0.003;0.007	T	0.51395	-0.8711	10	0.59425	D	0.04	.	13.0759	0.59087	0.6294:0.0:0.3706:0.0	.	57;57	P07949;P07949-2	RET_HUMAN;.	Q	57	ENSP00000347942:R57Q;ENSP00000344798:R57Q	ENSP00000344798:R57Q	R	+	2	0	RET	42916009	0.007000	0.16637	0.001000	0.08648	0.001000	0.01503	-0.012000	0.12699	-0.533000	0.06323	-1.553000	0.00894	CGG	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047694.2		+	ENST00000355710.3	Missense_Mutation	SNP	10 : 43596003 - 43596003 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	307	16
RETNLB	84666	broad.mit.edu	37	3	108474644	108474644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr3:108474644C>T	ENST00000295755.6	-	3	515	c.317G>A	c.(316-318)cGc>cAc	p.R106H	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	106					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GTGGCAGCAGCGGGCAGTGGT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	93	94			NA	NA	3		NA											NA				108474644		2203	4300	6503	SO:0001583	missense			AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515	84666	84666			20388	protein-coding gene	gene with protein product		605645			NA	10921885, 12574343	Standard		NM_032579	NA	Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.317G>A	3.37:g.108474644C>T	ENSP00000295755:p.Arg106His	NA	Q14D27	37	CCDS2953.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719611	0.30503	.	.	ENSG00000163515	ENST00000295755	T	0.52057	0.68	4.3	-0.666	0.11399	.	0.288359	0.24909	N	0.034638	T	0.61476	0.2350	M	0.73598	2.24	0.18873	N	0.999983	D	0.89917	1.0	D	0.87578	0.998	T	0.54091	-0.8345	10	0.87932	D	0	-11.9276	7.6062	0.28103	0.0:0.5061:0.0:0.4939	.	106	Q9BQ08	RETNB_HUMAN	H	106	ENSP00000295755:R106H	ENSP00000295755:R106H	R	-	2	0	RETNLB	109957334	0.998000	0.40836	0.087000	0.20705	0.144000	0.21451	0.322000	0.19576	-0.391000	0.07763	-0.736000	0.03550	CGC	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355093.1		-	ENST00000295755.6	Missense_Mutation	SNP	3 : 108474644 - 108474644 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	492	8
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				6	Substitution - Missense(6)	endometrium(6)											164	133	142			NA	NA	2		NA											NA				107049681		692	1590	2282	SO:0001583	missense				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165	653489	653489		Tetratricopeptide (TTC) repeat domain containing	32416	protein-coding gene	gene with protein product		612706			NA	15710750, 15815621	Standard	XM_929931	NM_001144013	NA	Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp	NA	B8ZZM4	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329975.1		-	ENST00000409886.3	Missense_Mutation	SNP	2 : 107049681 - 107049681 C PAAD-TCGA-IB-7888-Tumor-SM-2NW83	1673	11
RREB1	6239	broad.mit.edu	37	6	7229368	7229368	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:7229368G>T	ENST00000379938.2	+	10	1573	c.1036G>T	c.(1036-1038)Gaa>Taa	p.E346*	RREB1_ENST00000349384.6_Nonsense_Mutation_p.E346*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.E346*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.E346*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	346					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCAGGGTCAAGAAAAGCCGCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	32	32			NA	NA	6		NA											NA				7229368		2203	4300	6503	SO:0001587	stop_gained			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782	6239	6239		Zinc fingers, C2H2-type	10449	protein-coding gene	gene with protein product	hindsight homolog (drosophila)	602209			NA	9367691, 18394891	Standard		NM_001003698	NA	Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000379938.2:c.1036G>T	6.37:g.7229368G>T	ENSP00000369270:p.Glu346*	NA	A2RRF5|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	37	CCDS34335.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.720585	0.68959	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	.	.	.	5.44	5.44	0.79542	.	0.520225	0.17251	N	0.181180	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-9.0175	12.5884	0.56430	0.0761:0.0:0.9239:0.0	.	.	.	.	X	346	.	ENSP00000335574:E346X	E	+	1	0	RREB1	7174367	1.000000	0.71417	0.030000	0.17652	0.053000	0.15095	4.178000	0.58284	2.547000	0.85894	0.455000	0.32223	GAA	RREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039774.3		+	ENST00000379938.2	Nonsense_Mutation	SNP	6 : 7229368 - 7229368 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	206	10
RREB1	6239	broad.mit.edu	37	6	7229365	7229365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:7229365C>T	ENST00000379938.2	+	10	1570	c.1033C>T	c.(1033-1035)Caa>Taa	p.Q345*	RREB1_ENST00000349384.6_Nonsense_Mutation_p.Q345*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q345*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q345*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	345					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGACCAGGGTCAAGAAAAGCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	32	32			NA	NA	6		NA											NA				7229365		2203	4300	6503	SO:0001587	stop_gained			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782	6239	6239		Zinc fingers, C2H2-type	10449	protein-coding gene	gene with protein product	hindsight homolog (drosophila)	602209			NA	9367691, 18394891	Standard		NM_001003698	NA	Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000379938.2:c.1033C>T	6.37:g.7229365C>T	ENSP00000369270:p.Gln345*	NA	A2RRF5|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	37	CCDS34335.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191693	0.58017	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	.	.	.	5.7	2.61	0.31194	.	0.654137	0.12867	N	0.432616	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-5.9613	4.9171	0.13851	0.329:0.4924:0.0998:0.0788	.	.	.	.	X	345	.	ENSP00000335574:Q345X	Q	+	1	0	RREB1	7174364	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	0.831000	0.27476	0.754000	0.32968	0.455000	0.32223	CAA	RREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039774.3		+	ENST00000379938.2	Nonsense_Mutation	SNP	6 : 7229365 - 7229365 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	201	13
SCNN1D	6339	broad.mit.edu	37	1	1225872	1225872	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:1225872G>A	ENST00000338555.2	+	11	2448	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	SCNN1D_ENST00000325425.8_Missense_Mutation_p.R501H|SCNN1D_ENST00000379116.5_Missense_Mutation_p.R599H|SCNN1D_ENST00000400928.3_Missense_Mutation_p.R435H					sodium channel, non-voltage-gated 1, delta subunit	NA										lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		TGCTTCTACCGCCTCTACCAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4388		0,0,2194	67	75	72		1796	-0.8	0.7	1		72	1,8589	1.2+/-3.3	0,1,4294	no	missense	SCNN1D	NM_001130413.3	29	0,1,6488	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	599/803	1225872	1,12977	2194	4295	6489	SO:0001583	missense			U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572	6339	6339		Ion channels / Sodium channel, nonvoltage-gated, Sodium channels	10601	protein-coding gene	gene with protein product		601328	sodium channel, nonvoltage-gated 1, delta, sodium channel, non-voltage-gated 1, delta		NA	8661065	Standard	NM_002978	NM_001130413	NA	Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1304G>A	1.37:g.1225872G>A	ENSP00000339504:p.Arg435His	NA		37		.	.	.	.	.	.	.	.	.	.	G	11.04	1.522663	0.27211	0.0	1.16E-4	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	4.05	-0.816	0.10839	.	1.672600	0.03725	N	0.252521	T	0.50820	0.1638	L	0.34521	1.04	0.19300	N	0.999974	P;P;P	0.47350	0.894;0.869;0.456	B;B;B	0.40565	0.273;0.333;0.018	T	0.49995	-0.8879	10	0.52906	T	0.07	.	7.7318	0.28791	0.5569:0.0:0.4431:0.0	.	257;435;599	B1AMF2;P51172;A6NNF7	.;SCNND_HUMAN;.	H	466;599;435;501;435	ENSP00000368411:R599H;ENSP00000339504:R435H;ENSP00000321594:R501H;ENSP00000383717:R435H	ENSP00000321594:R501H	R	+	2	0	SCNN1D	1215735	0.000000	0.05858	0.745000	0.31077	0.243000	0.25628	-0.215000	0.09279	-0.054000	0.13266	-0.350000	0.07774	CGC	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000005802.2		+	ENST00000338555.2	Missense_Mutation	SNP	1 : 1225872 - 1225872 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	513	7
SLC12A3	6559	broad.mit.edu	37	16	56920970	56920970	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr16:56920970G>A	ENST00000438926.2	+	17	2172	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	SLC12A3_ENST00000563236.1_Missense_Mutation_p.E715K|SLC12A3_ENST00000262502.5_Missense_Mutation_p.E714K|SLC12A3_ENST00000566786.1_Missense_Mutation_p.E714K	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	715					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TGTCATTGCCGAGGACCTCCG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	82	86			NA	NA	16		NA											NA				56920970		2198	4300	6498	SO:0001583	missense				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915	NA	6559		Solute carriers	10912	protein-coding gene	gene with protein product		600968			NA	8812482	Standard		NM_000339	NA	Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000438926.2:c.2143G>A	16.37:g.56920970G>A	ENSP00000402152:p.Glu715Lys	NA	A8MSJ2|C9JNN9	37	CCDS10770.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068187	0.55539	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.66	5.66	0.87406	.	0.281585	0.38058	N	0.001840	T	0.51873	0.1700	N	0.21545	0.675	0.53688	D	0.999976	B;B;B	0.26258	0.145;0.051;0.085	B;B;B	0.21546	0.035;0.007;0.035	T	0.45175	-0.9279	9	0.39692	T	0.17	.	19.7573	0.96299	0.0:0.0:1.0:0.0	.	714;715;715	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	K	714;715	.	ENSP00000262502:E715K	E	+	1	0	SLC12A3	55478471	1.000000	0.71417	0.986000	0.45419	0.557000	0.35523	4.779000	0.62375	2.668000	0.90789	0.551000	0.68910	GAG	SLC12A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257064.2		+	ENST00000438926.2	Missense_Mutation	SNP	16 : 56920970 - 56920970 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	452	22
SLC1A3	6507	broad.mit.edu	37	5	36684084	36684084	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:36684084G>A	ENST00000265113.4	+	9	1884	c.1408G>A	c.(1408-1410)Gcg>Acg	p.A470T	SLC1A3_ENST00000381918.3_Intron|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	470					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)	GCTCATCATCGCGGTGGACTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	136	145			NA	NA	5		NA											NA				36684084		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.1408G>A	5.37:g.36684084G>A	ENSP00000265113:p.Ala470Thr	NA	B2R5T3	37	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	G	36	5.635976	0.96693	.	.	ENSG00000079215	ENST00000265113;ENST00000427100	T	0.64260	-0.09	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.79592	0.4472	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.63793	0.918	T	0.79938	-0.1592	10	0.54805	T	0.06	-18.3873	19.9326	0.97124	0.0:0.0:1.0:0.0	.	470	P43003	EAA1_HUMAN	T	470;418	ENSP00000265113:A470T	ENSP00000265113:A470T	A	+	1	0	SLC1A3	36719841	1.000000	0.71417	0.972000	0.41901	0.977000	0.68977	9.768000	0.98965	2.720000	0.93068	0.650000	0.86243	GCG	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207579.2		+	ENST00000265113.4	Missense_Mutation	SNP	5 : 36684084 - 36684084 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	913	71
SLC6A19	340024	broad.mit.edu	37	5	1208876	1208876	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:1208876C>T	ENST00000304460.10	+	2	274	c.218C>T	c.(217-219)cCg>cTg	p.P73L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	73					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTCATGATCCCGTTCCTCATC	0.657		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	5e-04	SNP								NA				0								C	LEU/PRO	0,4406		0,0,2203	104	99	101		218	4.6	0.9	5		101	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC6A19	NM_001003841.2	98	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	73/635	1208876	1,13005	2203	4300	6503	SO:0001583	missense			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358	340024	340024		Solute carriers	27960	protein-coding gene	gene with protein product	Hartnup disease	608893			NA		Standard	XM_291120	NM_001003841	NA	Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.218C>T	5.37:g.1208876C>T	ENSP00000305302:p.Pro73Leu	NA	A8K446	37	CCDS34130.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	26.6	4.754281	0.89843	0.0	1.16E-4	ENSG00000174358	ENST00000304460	D	0.86865	-2.18	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.94968	0.8372	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96314	0.9231	10	0.72032	D	0.01	.	17.3733	0.87384	0.0:1.0:0.0:0.0	.	73	Q695T7	S6A19_HUMAN	L	73	ENSP00000305302:P73L	ENSP00000305302:P73L	P	+	2	0	SLC6A19	1261876	1.000000	0.71417	0.919000	0.36401	0.935000	0.57460	5.849000	0.69465	2.091000	0.63221	0.485000	0.47835	CCG	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365557.1		+	ENST00000304460.10	Missense_Mutation	SNP	5 : 1208876 - 1208876 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	861	65
SLC7A2	6542	broad.mit.edu	37	8	17415826	17415826	+	Missense_Mutation	SNP	C	C	G	rs148874201	byFrequency	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr8:17415826C>G	ENST00000470360.1	+	10	1452	c.1335C>G	c.(1333-1335)gaC>gaG	p.D445E	SLC7A2_ENST00000398090.3_Missense_Mutation_p.D445E|SLC7A2_ENST00000522656.1_Missense_Mutation_p.D406E|SLC7A2_ENST00000004531.10_Missense_Mutation_p.D446E|SLC7A2_ENST00000494857.1_Missense_Mutation_p.D406E			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	406					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TTCTGTTTGACCTGAAGGCGC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	174	185			NA	NA	8		NA											NA				17415826		2203	4300	6503	SO:0001583	missense			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989	6542	6542		Solute carriers	11060	protein-coding gene	gene with protein product		601872		ATRC2	NA	8954799	Standard	NM_003046	NM_001164771	NA	Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000470360.1:c.1335C>G	8.37:g.17415826C>G	ENSP00000419873:p.Asp445Glu	NA	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	37	CCDS6002.2	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157068	0.38119	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	5.38	5.38	0.77491	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.91181	0.7222	L	0.57130	1.785	0.58432	D	0.999999	B;P;D	0.55172	0.141;0.859;0.97	B;B;P	0.55455	0.132;0.367;0.776	D	0.87579	0.2483	10	0.12430	T	0.62	.	12.823	0.57704	0.0:0.9251:0.0:0.0748	.	446;445;406	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	E	406;406;445;446;445	ENSP00000419140:D406E;ENSP00000430464:D406E;ENSP00000419873:D445E;ENSP00000004531:D446E;ENSP00000381164:D445E	ENSP00000004531:D446E	D	+	3	2	SLC7A2	17460118	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.982000	0.63825	2.691000	0.91804	0.561000	0.74099	GAC	SLC7A2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253368.3		+	ENST00000470360.1	Missense_Mutation	SNP	8 : 17415826 - 17415826 G PAAD-TCGA-IB-7888-Tumor-SM-2NW83	442	30
SSX3	10214	broad.mit.edu	37	X	48209006	48209006	+	Silent	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:48209006G>A	ENST00000376893.3	-	7	576	c.483C>T	c.(481-483)taC>taT	p.Y161Y	SSX3_ENST00000376895.1_Intron|SSX3_ENST00000298396.2_Intron			Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.Y161Y(1)		endometrium(3)|large_intestine(1)|lung(9)	13						cgaacctgcagtatctctgaa	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(37;227 826 19399 40970 48007)							NA				1	Substitution - coding silent(1)	lung(1)											93	77	83			NA	NA	X		NA											NA				48209006		2203	4300	6503	SO:0001819	synonymous_variant			U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584	10214	10214			11337	protein-coding gene	gene with protein product		300325			NA	8697803, 9378559	Standard	NM_021014	NM_021014	NA	Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000376893.3:c.483C>T	X.37:g.48209006G>A		NA	O60223|Q5JQZ3	37	CCDS35239.1																																																																																			SSX3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056487.1		-	ENST00000376893.3	Silent	SNP	X : 48209006 - 48209006 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	266	10
SSX3	10214	broad.mit.edu	37	X	48209018	48209018	+	Silent	SNP	G	G	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:48209018G>C	ENST00000376893.3	-	7	564	c.471C>G	c.(469-471)gtC>gtG	p.V157V	SSX3_ENST00000376895.1_Intron|SSX3_ENST00000298396.2_Intron			Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						atctctgaaggacacctgTAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(37;227 826 19399 40970 48007)							NA				0													93	78	83			NA	NA	X		NA											NA				48209018		2203	4300	6503	SO:0001819	synonymous_variant			U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584	10214	10214			11337	protein-coding gene	gene with protein product		300325			NA	8697803, 9378559	Standard	NM_021014	NM_021014	NA	Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000376893.3:c.471C>G	X.37:g.48209018G>C		NA	O60223|Q5JQZ3	37	CCDS35239.1																																																																																			SSX3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056487.1		-	ENST00000376893.3	Silent	SNP	X : 48209018 - 48209018 C PAAD-TCGA-IB-7888-Tumor-SM-2NW83	291	10
STRN3	29966	broad.mit.edu	37	14	31376184	31376184	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr14:31376184C>T	ENST00000355683.5	-	12	1750	c.1535G>A	c.(1534-1536)gGc>gAc	p.G512D	STRN3_ENST00000357479.5_Missense_Mutation_p.G596D	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	596					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ATTTTTTATGCCACTATAAGC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	110	112			NA	NA	14		NA											NA				31376184		2203	4300	6503	SO:0001583	missense				CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792	29966	29966		WD repeat domain containing	15720	protein-coding gene	gene with protein product	cell cycle S/G2 nuclear autoantigen	614766			NA	7864889, 10681496	Standard	NM_014574	NM_014574	NA	Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000355683.5:c.1535G>A	14.37:g.31376184C>T	ENSP00000347909:p.Gly512Asp	NA	A2RTX7|A6NHZ7|Q9NRA5	37	CCDS9641.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743342	0.89663	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	T;T	0.59502	0.26;0.26	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58495	0.2126	N	0.10733	0.035	0.80722	D	1	P;D	0.64830	0.762;0.994	B;D	0.66351	0.343;0.943	T	0.61322	-0.7086	10	0.30854	T	0.27	-5.1717	19.9019	0.96988	0.0:1.0:0.0:0.0	.	512;596	Q13033-2;Q13033	.;STRN3_HUMAN	D	512;596	ENSP00000347909:G512D;ENSP00000350071:G596D	ENSP00000347909:G512D	G	-	2	0	STRN3	30445935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.498000	0.60373	2.706000	0.92434	0.563000	0.77884	GGC	STRN3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276609.2		-	ENST00000355683.5	Missense_Mutation	SNP	14 : 31376184 - 31376184 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	460	5
STS	412	broad.mit.edu	37	X	7267976	7267976	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:7267976G>A	ENST00000217961.4	+	10	1646	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	476					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CTTCAACCCCGTGGGTTCCAA	0.473		NA							Ichthyosis				G	3	0.0018	NA	NA	1659	0.01	1	,	,	NA	2e-04	NA	NA	NA	0.0023	1	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0													117	107	111			NA	NA	X		NA											NA				7267976		2203	4299	6502	SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	412	412	3.1.6.2	Arylsulfatase family	11425	protein-coding gene	gene with protein product	arylsulfatase C	300747	steroid sulfatase (microsomal), arylsulfatase C, isozyme S	ARSC1	NA		Standard	NM_000351	NM_000351	NA	Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1426G>A	X.37:g.7267976G>A	ENSP00000217961:p.Val476Met	NA	B2RA47	37	CCDS14127.1	3	0.0018083182640144665	0	0.0	0	0.0	1	0.0017605633802816902	0	0.0	G	8.477	0.858878	0.17178	.	.	ENSG00000101846	ENST00000217961	D	0.89415	-2.51	4.22	3.35	0.38373	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.537990	0.20281	N	0.095442	T	0.70413	0.3221	N	0.03608	-0.345	0.09310	N	0.999996	P	0.41498	0.752	B	0.33339	0.162	T	0.65146	-0.6239	10	0.56958	D	0.05	.	7.1491	0.25599	0.2151:0.0:0.7849:0.0	.	476	P08842	STS_HUMAN	M	476	ENSP00000217961:V476M	ENSP00000217961:V476M	V	+	1	0	STS	7277976	0.042000	0.20092	0.064000	0.19789	0.004000	0.04260	1.805000	0.38883	0.627000	0.30340	0.594000	0.82650	GTG	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055686.1		+	ENST00000217961.4	Missense_Mutation	SNP	X : 7267976 - 7267976 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	867	6
TBC1D4	9882	broad.mit.edu	37	13	75886933	75886933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr13:75886933C>T	ENST00000377636.3	-	13	2670	c.2324G>A	c.(2323-2325)cGc>cAc	p.R775H	TBC1D4_ENST00000431480.2_Missense_Mutation_p.R767H|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.R712H	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	775						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAGGAAAATGCGCTGCCGCCA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	0,3932		0,0,1966	79	82	81		2324	5.5	1	13		81	1,8305		0,1,4152	no	missense	TBC1D4	NM_014832.2	29	0,1,6118	TT,TC,CC	NA	0.012,0.0,0.0082	probably-damaging	775/1299	75886933	1,12237	1966	4153	6119	SO:0001583	missense			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111	9882	9882			19165	protein-coding gene	gene with protein product	Akt substrate of 160 kDa	612465			NA	11829485, 11994271, 15304337	Standard	NM_014832	XM_005266603	NA	Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2324G>A	13.37:g.75886933C>T	ENSP00000366863:p.Arg775His	NA	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	37	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876178	0.91664	0.0	1.2E-4	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000413735	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.53	5.53	0.82687	.	0.085211	0.48767	D	0.000171	T	0.64349	0.2590	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	P;D;D	0.65443	0.862;0.91;0.935	T	0.63804	-0.6554	10	0.59425	D	0.04	-12.7168	19.8372	0.96661	0.0:1.0:0.0:0.0	.	712;767;775	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	H	775;767;712;224	ENSP00000366863:R775H;ENSP00000395986:R767H;ENSP00000366852:R712H;ENSP00000396932:R224H	ENSP00000366852:R712H	R	-	2	0	TBC1D4	74784934	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.095000	0.64529	2.770000	0.95276	0.655000	0.94253	CGC	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045283.1		-	ENST00000377636.3	Missense_Mutation	SNP	13 : 75886933 - 75886933 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	399	6
TCP10	6953	broad.mit.edu	37	6	167789540	167789540	+	Missense_Mutation	SNP	G	G	A	rs28637384		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:167789540G>A	ENST00000366827.2	-	6	813	c.602C>T	c.(601-603)cCg>cTg	p.P201L	TCP10_ENST00000397829.4_Missense_Mutation_p.P201L			Q12799	TCP10_HUMAN	t-complex 10	228						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GGAGTTTTGCGGACTTCGGGA	0.612		NA											G	10	0.0046	0.01	0.0028	2184	0.01	0.9959	,	,	NA	0.0035	0.0026	NA	NA	0.0053	0.6811	LOWCOV	NA	NA	0.002	SNP								NA				0								G	LEU/PRO	26,3906		0,26,1940	41	43	42		602	-1	0	6	dbSNP_125	42	3,8347		0,3,4172	no	missense	TCP10	NM_004610.3	98	0,29,6112	AA,AG,GG	NA	0.0359,0.6612,0.2361	benign	201/327	167789540	29,12253	1966	4175	6141	SO:0001583	missense			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690	6953	6953			11656	protein-coding gene	gene with protein product		187020	t-complex 10 (a murine tcp homolog), t-complex 10 (mouse), t-complex 10 homolog (mouse)		NA	8111376	Standard	NM_004610	NM_004610	NA	Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000366827.2:c.602C>T	6.37:g.167789540G>A	ENSP00000355792:p.Pro201Leu	NA	Q5JR60|Q6P4F4	37		10	0.004578754578754579	4	0.008130081300813009	1	0.0027624309392265192	3	0.005244755244755245	2	0.002638522427440633	G	0.115	-1.133580	0.01756	0.006612	3.59E-4	ENSG00000203690	ENST00000366827;ENST00000397829	T;T	0.14266	2.52;2.52	1.65	-1.01	0.10169	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47522	-0.9111	9	0.02654	T	1	.	5.1124	0.14815	0.7913:0.0:0.2087:0.0	rs28637384	228;228	Q12799;Q12799-2	TCP10_HUMAN;.	L	201	ENSP00000355792:P201L;ENSP00000380929:P201L	ENSP00000355792:P201L	P	-	2	0	TCP10	167709530	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	0.285000	0.18883	-0.248000	0.09583	-0.699000	0.03677	CCG	TCP10-001	PUTATIVE	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000043135.3		-	ENST00000366827.2	Missense_Mutation	SNP	6 : 167789540 - 167789540 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	206	5
TGM7	116179	broad.mit.edu	37	15	43579655	43579655	+	Splice_Site	SNP	T	T	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr15:43579655T>C	ENST00000452443.2	-	6	692	c.688A>G	c.(688-690)Atc>Gtc	p.I230V		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	230					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTGCTGTTGATCTGCAGAGGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	92	96			NA	NA	15		NA											NA				43579655		2202	4299	6501	SO:0001630	splice_region_variant			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495	116179	116179		Transglutaminases	30790	protein-coding gene	gene with protein product	transglutaminase Z	606776			NA	11390390	Standard	NM_052955	NM_052955	NA	Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.688-1A>G	15.37:g.43579655T>C		NA		37	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.647826	0.47258	.	.	ENSG00000159495	ENST00000452443	D	0.84589	-1.87	5.72	5.72	0.89469	.	0.051682	0.85682	D	0.000000	D	0.85133	0.5627	L	0.28608	0.87	0.39793	D	0.972465	D	0.64830	0.994	D	0.72625	0.978	T	0.80848	-0.1199	10	0.02654	T	1	-28.5987	13.9677	0.64218	0.0:0.0:0.0:1.0	.	230	Q96PF1	TGM7_HUMAN	V	230	ENSP00000389466:I230V	ENSP00000389466:I230V	I	-	1	0	TGM7	41366947	0.998000	0.40836	1.000000	0.80357	0.843000	0.47879	0.496000	0.22499	2.189000	0.69895	0.533000	0.62120	ATC	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432489.1	Missense_Mutation	-	ENST00000452443.2	Splice_Site	SNP	15 : 43579655 - 43579655 C PAAD-TCGA-IB-7888-Tumor-SM-2NW83	456	37
TLK2	11011	broad.mit.edu	37	17	60689781	60689781	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:60689781G>C	ENST00000582809.1	+	23	2364	c.1661G>C	c.(1660-1662)cGa>cCa	p.R554P	TLK2_ENST00000326270.9_Missense_Mutation_p.R725P|TLK2_ENST00000346027.5_Missense_Mutation_p.R703P|TLK2_ENST00000542523.1_Missense_Mutation_p.R671P|TLK2_ENST00000343388.7_Missense_Mutation_p.R671P			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	725	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTGGCCTACCGAAAGGAGGAC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	82	86			NA	NA	17		NA											NA				60689781		2203	4300	6503	SO:0001583	missense			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18					11011	11011			11842	protein-coding gene	gene with protein product		608439			NA	9427565, 10523312	Standard	NM_006852	NM_006852	NA	Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000582809.1:c.1661G>C	17.37:g.60689781G>C	ENSP00000463595:p.Arg554Pro	NA	D3DU07|Q9UKI7|Q9Y4F7	37		.	.	.	.	.	.	.	.	.	.	G	19.04	3.750151	0.69533	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.56	4.56	0.56223	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057633	0.64402	D	0.000001	T	0.31263	0.0791	L	0.27053	0.805	0.80722	D	1	D;P;P;P	0.62365	0.991;0.952;0.914;0.93	D;P;P;P	0.64144	0.922;0.754;0.754;0.841	T	0.05550	-1.0878	10	0.87932	D	0	.	14.9516	0.71080	0.0:0.0:0.8571:0.1429	.	725;671;703;703	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	P	703;671;725;671	ENSP00000275780:R703P;ENSP00000340800:R671P;ENSP00000316512:R725P;ENSP00000442311:R671P	ENSP00000316512:R725P	R	+	2	0	TLK2	58043513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.614000	0.88457	0.561000	0.74099	CGA	TLK2-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000445133.1		+	ENST00000582809.1	Missense_Mutation	SNP	17 : 60689781 - 60689781 C PAAD-TCGA-IB-7888-Tumor-SM-2NW83	755	7
TLL1	7092	broad.mit.edu	37	4	166978413	166978413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr4:166978413G>A	ENST00000061240.2	+	14	2445	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	TLL1_ENST00000507499.1_Missense_Mutation_p.A623T	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	600	EGF-like 1; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTACCAGTGTGCCTGTGAGCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	137	140			NA	NA	4		NA											NA				166978413		2203	4300	6503	SO:0001583	missense			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295	7092	7092			11843	protein-coding gene	gene with protein product		606742			NA	10516436	Standard		NM_012464	NA	Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1798G>A	4.37:g.166978413G>A	ENSP00000061240:p.Ala600Thr	NA	B2RMU2|Q96AN3|Q9NQS4	37	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296332	0.40594	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	D;D	0.97016	-4.21;-4.21	5.96	1.33	0.21861	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.201206	0.42172	N	0.000746	D	0.90683	0.7077	N	0.04669	-0.19	0.50813	D	0.99989	B;P	0.42584	0.088;0.784	B;P	0.51657	0.054;0.676	D	0.83697	0.0180	10	0.20519	T	0.43	.	6.019	0.19618	0.1836:0.0:0.5477:0.2687	.	623;600	E9PD25;O43897	.;TLL1_HUMAN	T	600;623	ENSP00000061240:A600T;ENSP00000426082:A623T	ENSP00000061240:A600T	A	+	1	0	TLL1	167197863	0.980000	0.34600	0.005000	0.12908	0.779000	0.44077	2.781000	0.47750	-0.066000	0.12998	-0.143000	0.13931	GCC	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363821.1		+	ENST00000061240.2	Missense_Mutation	SNP	4 : 166978413 - 166978413 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	460	6
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:7578275G>A	ENST00000420246.2	-	6	706	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	192	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; 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.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)		ATAAGATGCTGAGGAGGGGCC	0.557		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	144	Substitution - Nonsense(95)|Deletion - In frame(19)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(6)|Unknown(6)|Insertion - Frameshift(1)|Complex - frameshift(1)|Substitution - Missense(1)	breast(26)|ovary(20)|urinary_tract(15)|lung(12)|upper_aerodigestive_tract(10)|skin(8)|biliary_tract(7)|oesophagus(7)|large_intestine(6)|kidney(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|liver(5)|bone(4)|central_nervous_system(3)|pancreas(2)|cervix(1)|endometrium(1)|eye(1)											89	80	83			NA	NA	17		NA											NA				7578275		2203	4300	6503	SO:0001587	stop_gained	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.574C>T	17.37:g.7578275G>A	ENSP00000391127:p.Gln192*	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269040	0.40095	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	3.36	0.38483	.	0.242461	0.43260	D	0.000594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.6404	8.6971	0.34303	0.0:0.1484:0.545:0.3066	.	.	.	.	X	192;192;192;192;192;192;181;99;60;99;60	.	ENSP00000269305:Q192X	Q	-	1	0	TP53	7519000	1.000000	0.71417	0.987000	0.45799	0.035000	0.12851	2.163000	0.42377	0.732000	0.32470	0.655000	0.94253	CAG	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Nonsense_Mutation	SNP	17 : 7578275 - 7578275 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	339	15
TPSD1	23430	broad.mit.edu	37	16	1306311	1306311	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr16:1306311C>T	ENST00000211076.3	+	1	178	c.30C>T	c.(28-30)agC>agT	p.S10S	TPSD1_ENST00000397534.2_Silent_p.S3S	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	10					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				AGATGCTGAGCCTGCTGCTGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	61	57			NA	NA	16		NA											NA				1306311		2198	4299	6497	SO:0001819	synonymous_variant			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	23430	23430	3.4.21.59		14118	protein-coding gene	gene with protein product	mMCP-7-like II, mMCP-7-like I, MMCP-7-LIKE-2	609272			NA	9920877	Standard		NM_012217	NA	Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.30C>T	16.37:g.1306311C>T		NA	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	37	CCDS10432.1																																																																																			TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250320.2		+	ENST00000211076.3	Silent	SNP	16 : 1306311 - 1306311 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	826	10
TSPAN18	90139	broad.mit.edu	37	11	44931325	44931325	+	Missense_Mutation	SNP	G	G	A	rs138512957		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:44931325G>A	ENST00000520358.2	+	5	548	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	TSPAN18_ENST00000340160.3_Missense_Mutation_p.V45M			Q96SJ8	TSN18_HUMAN	tetraspanin 18	45						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						CCGGGAGATCGTGGCTGCCAA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	46	50	49		133	3.1	1	11	dbSNP_134	49	1,8595	1.2+/-3.3	0,1,4297	no	missense	TSPAN18	NM_130783.4	21	0,2,6499	AA,AG,GG	NA	0.0116,0.0227,0.0154	probably-damaging	45/249	44931325	2,13000	2203	4298	6501	SO:0001583	missense			AY358087	CCDS7910.1	11p11.2	2013-02-14				ENSG00000157570	90139	90139		Tetraspanins	20660	protein-coding gene	gene with protein product					NA	11756464	Standard	NM_130783	NM_130783	NA	Approved	TSPAN	uc001mye.4	Q96SJ8		ENST00000520358.2:c.133G>A	11.37:g.44931325G>A	ENSP00000429993:p.Val45Met	NA	Q6UY44|Q8NBI9	37	CCDS7910.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.311265|4.311265	0.81358|0.81358	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000157570|ENSG00000157570	ENST00000518429|ENST00000533786;ENST00000533202;ENST00000520358;ENST00000520999;ENST00000340160;ENST00000520837	.|T;T;T;T;T;T	.|0.80214	.|-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.0|5.0	3.1|3.1	0.35709|0.35709	.|.	.|0.239380	.|0.41823	.|D	.|0.000806	D|D	0.86049|0.86049	0.5840|0.5840	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.996;0.997	.|D;D	.|0.67548	.|0.952;0.922	D|D	0.85562|0.85562	0.1228|0.1228	5|10	.|0.59425	.|D	.|0.04	.|.	8.9069|8.9069	0.35530|0.35530	0.232:0.0:0.768:0.0|0.232:0.0:0.768:0.0	.|.	.|45;45	.|Q8WUV1;Q96SJ8	.|.;TSN18_HUMAN	H|M	48|45;45;45;55;45;55	.|ENSP00000433592:V45M;ENSP00000434625:V45M;ENSP00000429993:V45M;ENSP00000427942:V55M;ENSP00000339820:V45M;ENSP00000430343:V55M	.|ENSP00000339820:V45M	R|V	+|+	2|1	0|0	TSPAN18|TSPAN18	44887901|44887901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	4.890000|4.890000	0.63178|0.63178	1.105000|1.105000	0.41606|0.41606	0.561000|0.561000	0.74099|0.74099	CGT|GTG	TSPAN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376197.3		+	ENST00000520358.2	Missense_Mutation	SNP	11 : 44931325 - 44931325 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	548	7
TYROBP	7305	broad.mit.edu	37	19	36398352	36398352	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:36398352C>T	ENST00000585901.2	-	3	243	c.225G>A	c.(223-225)gcG>gcA	p.A75A	TYROBP_ENST00000424586.3_Silent_p.A64A|TYROBP_ENST00000262629.4_Silent_p.A75A|TYROBP_ENST00000589517.1_Silent_p.A75A|TYROBP_ENST00000544690.2_Silent_p.A64A			O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	75					axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACTCACCCTCCGCAGCCCCTC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,	0,4404		0,0,2202	35	42	40		192,192,225,225	-7.4	0	19		40	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TYROBP	NM_001173514.1,NM_001173515.1,NM_003332.3,NM_198125.2	,,,	0,1,6501	TT,TC,CC	NA	0.0116,0.0,0.0077	,,,	64/103,64/102,75/114,75/113	36398352	1,13003	2202	4300	6502	SO:0001819	synonymous_variant			AF019563	CCDS12482.1, CCDS46058.1, CCDS54255.1, CCDS59378.1	19q13.1	2014-09-17				ENSG00000011600	7305	7305			12449	protein-coding gene	gene with protein product	killer activating receptor associated protein, DNAX-activation protein 12	604142		PLOSL	NA	9490415, 10888890	Standard		NM_003332	NA	Approved	DAP12, PLO-SL, KARAP	uc002ocm.3	O43914		ENST00000585901.2:c.225G>A	19.37:g.36398352C>T		NA	A8K2X0|Q6FGA5|Q9UMT3	37																																																																																				TYROBP-006	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000457396.2		-	ENST00000585901.2	Silent	SNP	19 : 36398352 - 36398352 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	668	29
VN1R4	317703	broad.mit.edu	37	19	53770125	53770125	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:53770125A>G	ENST00000311170.4	-	1	847	c.794T>C	c.(793-795)tTa>tCa	p.L265S		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	265					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GTTCACCAGTAAACTATTGGG	0.453		NA								HNSCC(26;0.072)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	58	59			NA	NA	19		NA											NA				53770125		2203	4300	6503	SO:0001583	missense			AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567	317703	317703		Vomeronasal receptors / Type 1, GPCR / Unclassified : Vomeronasal receptors, type 1	19871	protein-coding gene	gene with protein product					NA	12123587	Standard	NM_173857	NM_173857	NA	Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.794T>C	19.37:g.53770125A>G	ENSP00000310856:p.Leu265Ser	NA	Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	37	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	A	7.798	0.713095	0.15306	.	.	ENSG00000228567	ENST00000311170	T	0.09723	2.95	2.28	-2.0	0.07433	GPCR, rhodopsin-like superfamily (1);	1.998760	0.03487	N	0.216036	T	0.14787	0.0357	M	0.66939	2.045	0.09310	N	1	P	0.34724	0.465	B	0.38458	0.274	T	0.31971	-0.9924	10	0.62326	D	0.03	.	4.3774	0.11277	0.4545:0.3629:0.0:0.1826	.	265	Q7Z5H5	VN1R4_HUMAN	S	265	ENSP00000310856:L265S	ENSP00000310856:L265S	L	-	2	0	VN1R4	58461937	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.932000	0.01554	-0.543000	0.06240	0.445000	0.29226	TTA	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464287.1		-	ENST00000311170.4	Missense_Mutation	SNP	19 : 53770125 - 53770125 G PAAD-TCGA-IB-7888-Tumor-SM-2NW83	301	11
ZAP70	7535	broad.mit.edu	37	2	98354224	98354224	+	Missense_Mutation	SNP	G	G	A	rs150631046		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr2:98354224G>A	ENST00000264972.5	+	12	1702	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	ZAP70_ENST00000442208.1_Missense_Mutation_p.R370H|ZAP70_ENST00000451498.2_Missense_Mutation_p.R189H|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	496	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCCCAGGCCCGCTCAGCAGGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	78	88	85		1487,566	5.2	1	2	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZAP70	NM_001079.3,NM_207519.1	29,29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	496/620,189/313	98354224	1,13005	2203	4300	6503	SO:0001583	missense			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085	7535	7535		SH2 domain containing	12858	protein-coding gene	gene with protein product		176947	zeta-chain (TCR) associated protein kinase (70 kD)	SRK	NA	1423621	Standard		NM_001079	NA	Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1487G>A	2.37:g.98354224G>A	ENSP00000264972:p.Arg496His	NA	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	37	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206886	0.79127	0.0	1.16E-4	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.83250	-1.7;-1.7;-1.7	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000406	T	0.80839	0.4700	N	0.24115	0.695	0.51233	D	0.99991	D;D	0.76494	0.999;0.999	P;D	0.62955	0.864;0.909	T	0.75371	-0.3341	10	0.15952	T	0.53	.	10.1268	0.42654	0.0915:0.0:0.9085:0.0	.	370;496	P43403-3;P43403	.;ZAP70_HUMAN	H	496;370;189	ENSP00000264972:R496H;ENSP00000411141:R370H;ENSP00000400475:R189H	ENSP00000264972:R496H	R	+	2	0	ZAP70	97720656	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.334000	0.72944	2.610000	0.88304	0.655000	0.94253	CGC	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329278.1		+	ENST00000264972.5	Missense_Mutation	SNP	2 : 98354224 - 98354224 A PAAD-TCGA-IB-7888-Tumor-SM-2NW83	776	6
ZBTB3	79842	broad.mit.edu	37	11	62519604	62519604	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:62519604C>T	ENST00000394807.3	-	2	1808	c.1683G>A	c.(1681-1683)ggG>ggA	p.G561G		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						CTTTAGGTGGCCCTCCACCAC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	82	84			NA	NA	11		NA											NA				62519604		2202	4299	6501	SO:0001819	synonymous_variant			AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670	79842	79842		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	22918	protein-coding gene	gene with protein product					NA		Standard	NM_024784	NM_024784	NA	Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1683G>A	11.37:g.62519604C>T		NA		37	CCDS8034.1																																																																																			ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395342.1		-	ENST00000394807.3	Silent	SNP	11 : 62519604 - 62519604 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	440	23
ZC2HC1A	51101	broad.mit.edu	37	8	79627512	79627512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr8:79627512C>T	ENST00000263849.4	+	8	863	c.761C>T	c.(760-762)cCa>cTa	p.P254L		NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	254											NA						AATCCTGCCCCAGGTGTGCTT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	85	83			NA	NA	8		NA											NA				79627512		2203	4300	6503	SO:0001583	missense				CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427	51101	51101		Zinc fingers, C2HC-type containing	24277	protein-coding gene	gene with protein product			chromosome 8 open reading frame 70, family with sequence similarity 164, member A	C8orf70, FAM164A	NA	10810093	Standard	NM_016010	NM_016010	NA	Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.761C>T	8.37:g.79627512C>T	ENSP00000263849:p.Pro254Leu	NA	Q9Y372	37	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880968	0.33255	.	.	ENSG00000104427	ENST00000263849	T	0.43294	0.95	4.93	4.93	0.64822	.	0.837520	0.10882	N	0.623674	T	0.32376	0.0827	L	0.29908	0.895	0.42919	D	0.99428	B	0.10296	0.003	B	0.08055	0.003	T	0.05354	-1.0890	9	.	.	.	-6.0283	12.735	0.57218	0.0:0.921:0.0:0.079	.	254	Q96GY0	F164A_HUMAN	L	254	ENSP00000263849:P254L	.	P	+	2	0	FAM164A	79790067	0.681000	0.27614	0.214000	0.23707	0.886000	0.51366	2.226000	0.42963	2.567000	0.86603	0.650000	0.86243	CCA	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379423.2		+	ENST00000263849.4	Missense_Mutation	SNP	8 : 79627512 - 79627512 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	357	19
ZCCHC3	85364	broad.mit.edu	37	20	279077	279077	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr20:279077C>T	ENST00000382352.3	+	1	1341	c.850C>T	c.(850-852)Ccg>Tcg	p.P284S		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	284							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCTGGCCGTGCCGGTGAAAGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	73	71			NA	NA	20		NA											NA				279077		2125	4235	6360	SO:0001583	missense			AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315	85364	85364		Zinc fingers, CCHC domain containing	16230	protein-coding gene	gene with protein product			chromosome 20 open reading frame 99	C20orf99	NA		Standard		NM_033089	NA	Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.850C>T	20.37:g.279077C>T	ENSP00000371789:p.Pro284Ser	NA	Q6NT79	37	CCDS42844.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003893	0.54254	.	.	ENSG00000177764	ENST00000382352	.	.	.	5.2	5.2	0.72013	.	0.169587	0.37304	N	0.002143	T	0.49575	0.1565	N	0.11560	0.145	0.36834	D	0.887039	D	0.76494	0.999	D	0.66716	0.946	T	0.58346	-0.7652	9	0.52906	T	0.07	-21.2771	9.6167	0.39696	0.0:0.9079:0.0:0.0921	.	284	Q9NUD5	ZCHC3_HUMAN	S	284	.	ENSP00000371789:P284S	P	+	1	0	ZCCHC3	227077	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.058000	0.41374	2.707000	0.92482	0.555000	0.69702	CCG	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077447.1		+	ENST00000382352.3	Missense_Mutation	SNP	20 : 279077 - 279077 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	568	6
ZNF155	7711	broad.mit.edu	37	19	44495748	44495748	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:44495748C>G	ENST00000407951.2	+	4	290	c.97C>G	c.(97-99)Ctg>Gtg	p.L33V	ZNF155_ENST00000590615.1_Missense_Mutation_p.L22V|ZNF155_ENST00000270014.2_Missense_Mutation_p.L22V	NM_001260488.1	NP_001247417	Q12901	ZN155_HUMAN	zinc finger protein 155	22	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TGAGGAGGAGCTGGGGCTGCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(61;554 1277 20909 42067 42312)							NA				0													239	221	227			NA	NA	19		NA											NA				44495748		2203	4297	6500	SO:0001583	missense			U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920	7711	7711		Zinc fingers, C2H2-type, -	12940	protein-coding gene	gene with protein product		604086	zinc finger protein 155 (pHZ-96)		NA	7557990	Standard	NM_003445	NM_001260486	NA	Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000407951.2:c.97C>G	19.37:g.44495748C>G	ENSP00000385163:p.Leu33Val	NA	A2BDE6|B2RB63|Q6AZZ8|Q9UIE1|Q9UK14	37	CCDS58668.1	.	.	.	.	.	.	.	.	.	.	c	13.84	2.356298	0.41700	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.01787	4.64;4.64	1.64	1.64	0.23874	Krueppel-associated box (4);	.	.	.	.	T	0.06508	0.0167	M	0.68317	2.08	0.23546	N	0.997442	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.996	T	0.30475	-0.9977	9	0.87932	D	0	.	3.5586	0.07873	0.0:0.6202:0.0:0.3798	.	33;22	B4DM95;Q12901	.;ZN155_HUMAN	V	33;22	ENSP00000385163:L33V;ENSP00000270014:L22V	ENSP00000270014:L22V	L	+	1	2	ZNF155	49187588	0.980000	0.34600	1.000000	0.80357	0.940000	0.58332	-0.002000	0.12924	1.202000	0.43218	0.462000	0.41574	CTG	ZNF155-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460073.1		+	ENST00000407951.2	Missense_Mutation	SNP	19 : 44495748 - 44495748 G PAAD-TCGA-IB-7888-Tumor-SM-2NW83	1271	42
ZNF480	147657	broad.mit.edu	37	19	52825191	52825191	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:52825191C>T	ENST00000490272.1	+	0	496				ZNF480_ENST00000335090.6_Missense_Mutation_p.P153S|ZNF480_ENST00000334564.7_Missense_Mutation_p.P187S|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000595962.1_Missense_Mutation_p.P230S			Q8WV37	ZN480_HUMAN	zinc finger protein 480	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TGTAGAGAAACCTTACAAATG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	56			NA	NA	19		NA											NA				52825191		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464	147657	147657		Zinc fingers, C2H2-type, -	23305	protein-coding gene	gene with protein product		613910			NA	15219843	Standard	NM_144684	XM_005258525	NA	Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000490272.1:c.*246C>T	19.37:g.52825191C>T		NA	Q5JPG9|Q6P0Q4|Q8N1M5	37		.	.	.	.	.	.	.	.	.	.	C	10.56	1.385181	0.25031	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.28454	1.61;1.61;1.61	1.99	1.99	0.26369	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25791	0.0628	L	0.49640	1.575	0.24874	N	0.992269	B;B	0.28552	0.215;0.097	B;B	0.23852	0.049;0.026	T	0.22138	-1.0225	9	0.66056	D	0.02	.	7.3747	0.26821	0.0:1.0:0.0:0.0	.	187;230	F8WEZ9;Q8WV37	.;ZN480_HUMAN	S	230;187;153	ENSP00000417424:P230S;ENSP00000334164:P187S;ENSP00000335670:P153S	ENSP00000334164:P187S	P	+	1	0	ZNF480	57517003	0.000000	0.05858	0.041000	0.18516	0.050000	0.14768	0.441000	0.21611	1.080000	0.41073	0.467000	0.42956	CCT	ZNF480-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000349002.1		+	ENST00000490272.1	3'UTR	SNP	19 : 52825191 - 52825191 T PAAD-TCGA-IB-7888-Tumor-SM-2NW83	344	24
ZNF578	147660	broad.mit.edu	37	19	53015104	53015104	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:53015104G>C	ENST00000421239.2	+	6	1714	c.1470G>C	c.(1468-1470)aaG>aaC	p.K490N	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				NA				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGTGTCACAAGACCTTCAGTC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	83	82			NA	NA	19		NA											NA				53015104		2203	4300	6503	SO:0001583	missense			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405	147660	147660		Zinc fingers, C2H2-type, -	26449	protein-coding gene	gene with protein product					NA		Standard	NM_152472	NM_001099694	NA	Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1470G>C	19.37:g.53015104G>C	ENSP00000459216:p.Lys490Asn	NA		37	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	11.14	1.552309	0.27739	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.54	0.276	0.15663	.	.	.	.	.	T	0.64438	0.2598	M	0.85373	2.75	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.52208	-0.8606	7	.	.	.	.	3.0654	0.06213	0.1691:0.0:0.5654:0.2655	.	490	G3V4F6	.	N	490	.	.	K	+	3	2	ZNF578	57706916	0.001000	0.12720	0.000000	0.03702	0.074000	0.17049	-0.210000	0.09345	-0.031000	0.13781	0.306000	0.20318	AAG	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344298.3		+	ENST00000421239.2	Missense_Mutation	SNP	19 : 53015104 - 53015104 C PAAD-TCGA-IB-7888-Tumor-SM-2NW83	498	9
ZNF70	7621	broad.mit.edu	37	22	24086567	24086567	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr22:24086567C>G	ENST00000341976.3	-	2	1221	c.761G>C	c.(760-762)tGt>tCt	p.C254S		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	254						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						ACATTCCTTACACTGATAAGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	67	67			NA	NA	22		NA											NA				24086567		2203	4300	6503	SO:0001583	missense			X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792	7621	7621		Zinc fingers, C2H2-type	13140	protein-coding gene	gene with protein product		194544	zinc finger protein 70 (Cos17)		NA	1639391	Standard	NM_021916	NM_021916	NA	Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.761G>C	22.37:g.24086567C>G	ENSP00000339314:p.Cys254Ser	NA		37	CCDS13812.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836062	0.71373	.	.	ENSG00000187792	ENST00000341976	D	0.85171	-1.95	3.34	3.34	0.38264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94248	0.8153	H	0.95884	3.735	0.42002	D	0.990899	D	0.89917	1.0	D	0.97110	1.0	D	0.95533	0.8605	9	0.87932	D	0	-14.9537	13.0199	0.58779	0.0:1.0:0.0:0.0	.	254	Q9UC06	ZNF70_HUMAN	S	254	ENSP00000339314:C254S	ENSP00000339314:C254S	C	-	2	0	ZNF70	22416567	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.099000	0.76981	2.175000	0.68902	0.456000	0.33151	TGT	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319881.1		-	ENST00000341976.3	Missense_Mutation	SNP	22 : 24086567 - 24086567 G PAAD-TCGA-IB-7888-Tumor-SM-2NW83	444	23
