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
AGL	178	broad.mit.edu	37	1	100336383	100336383	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:100336383G>A	ENST00000294724.4	+	7	1394	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	AGL_ENST00000361302.3_Missense_Mutation_p.V290I|AGL_ENST00000370163.3_Missense_Mutation_p.V306I|AGL_ENST00000370165.3_Missense_Mutation_p.V306I|AGL_ENST00000361522.4_Missense_Mutation_p.V289I|AGL_ENST00000370161.2_Missense_Mutation_p.V290I|AGL_ENST00000361915.3_Missense_Mutation_p.V306I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	306					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CCAAGTAGATGTCAACAAAGC	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	39	37			NA	NA	1		NA											NA				100336383		2176	4279	6455	SO:0001583	missense			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	178	178	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	glycogen debranching enzyme, glycogen storage disease type III	610860	amylo-1, 6-glucosidase, 4-alpha-glucanotransferase		NA	1505983	Standard	NM_000028	NM_000028	NA	Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.916G>A	1.37:g.100336383G>A	ENSP00000294724:p.Val306Ile	NA	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	g	5.406	0.260007	0.10239	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.34	1.41	0.22369	Glycoside hydrolase, superfamily (1);	0.273612	0.36101	N	0.002797	T	0.60843	0.2300	L	0.39898	1.24	0.09310	N	0.999996	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.14578	0.011;0.011;0.007	T	0.53760	-0.8393	10	0.30078	T	0.28	.	9.6993	0.40175	0.2549:0.0:0.7451:0.0	.	289;290;306	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	I	306;306;306;306;290;290;289	ENSP00000355106:V306I;ENSP00000359184:V306I;ENSP00000359182:V306I;ENSP00000294724:V306I;ENSP00000354971:V290I;ENSP00000359180:V290I;ENSP00000354635:V289I	ENSP00000294724:V306I	V	+	1	0	AGL	100108971	0.990000	0.36364	0.001000	0.08648	0.123000	0.20343	2.092000	0.41700	0.073000	0.16731	-0.796000	0.03273	GTC	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029778.1		+	ENST00000294724.4	Missense_Mutation	SNP	1 : 100336383 - 100336383 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	246	84
ALPK2	115701	broad.mit.edu	37	18	56246544	56246544	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:56246544A>T	ENST00000361673.3	-	4	1677	c.1464T>A	c.(1462-1464)gaT>gaA	p.D488E		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	488							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTACTGATTCATCCATGTTGA	0.493		NA									OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	149	148			NA	NA	18		NA											NA				56246544		2203	4300	6503	SO:0001583	missense			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796	115701	115701		Immunoglobulin superfamily / I-set domain containing	20565	protein-coding gene	gene with protein product	heart alpha-kinase				NA	10021370	Standard	NM_052947	NM_052947	NA	Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1464T>A	18.37:g.56246544A>T	ENSP00000354991:p.Asp488Glu	1014	Q6ZUX0|Q8NAT5|Q96L95	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	10.08	1.251969	0.22880	.	.	ENSG00000198796	ENST00000361673	T	0.54479	0.57	5.34	-0.259	0.12971	.	0.515524	0.15105	N	0.280317	T	0.31231	0.0790	L	0.33485	1.01	0.09310	N	1	B	0.32829	0.386	B	0.24269	0.052	T	0.09122	-1.0689	10	0.35671	T	0.21	-8.4846	4.6008	0.12352	0.3972:0.4204:0.0685:0.1138	.	488	Q86TB3	ALPK2_HUMAN	E	488	ENSP00000354991:D488E	ENSP00000354991:D488E	D	-	3	2	ALPK2	54397524	0.027000	0.19231	0.028000	0.17463	0.004000	0.04260	0.054000	0.14205	-0.291000	0.09012	-0.313000	0.08912	GAT	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256126.1		-	ENST00000361673.3	Missense_Mutation	SNP	18 : 56246544 - 56246544 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	407	176
AP4B1	10717	broad.mit.edu	37	1	114445373	114445373	+	Silent	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:114445373A>G	ENST00000369569.1	-	2	505	c.225T>C	c.(223-225)taT>taC	p.Y75Y	AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Silent_p.Y75Y|AP4B1_ENST00000256658.4_Silent_p.Y75Y	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	75					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGGGGAGCATATGTGCACA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	127	137			NA	NA	1		NA											NA				114445373		2203	4300	6503	SO:0001819	synonymous_variant			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262	10717	10717			572	protein-coding gene	gene with protein product	beta 4 subunit of AP-4	607245	spastic paraplegia 47	SPG47	NA	10066790	Standard	NM_006594	NM_006594	NA	Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.225T>C	1.37:g.114445373A>G		NA	Q59EJ4|Q96CL6	37	CCDS865.1																																																																																			AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033037.1		-	ENST00000369569.1	Silent	SNP	1 : 114445373 - 114445373 G PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	314	146
ARRDC1	92714	broad.mit.edu	37	9	140507340	140507354	+	Splice_Site	DEL	CTTTGCAGCCATCCG	CTTTGCAGCCATCCG	-	rs147183389	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	CTTTGCAGCCATCCG	CTTTGCAGCCATCCG	-	-	CTTTGCAGCCATCCG	CTTTGCAGCCATCCG	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:140507340_140507354delCTTTGCAGCCATCCG	ENST00000371421.4	+	2	182_189	c.118_125delCTTTGCAGCCATCCG	c.(118-126)ctttgcagc>c	p.LCS40del	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	40										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CAGCCATCCCCTTTGCAGCCATCCGGGTGACCTGC	0.633		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:0001630	splice_region_variant			AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070	92714	92714			28633	protein-coding gene	gene with protein product	alpha-arrestin 1				NA	23886940	Standard	NM_152285	XM_005266119	NA	Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.119-1CTTTGCAGCCATCCG>-	9.37:g.140507340_140507354delCTTTGCAGCCATCCG		NA		37	CCDS7049.1																																																																																			ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055358.1	In_Frame_Del	+	ENST00000371421.4	Splice_Site	DEL	9 : 140507340 - 140507354 - PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	137	34
ASTN1	460	broad.mit.edu	37	1	176833536	176833536	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:176833536C>T	ENST00000367657.3	-	22	3838				ASTN1_ENST00000367654.3_Missense_Mutation_p.E1265K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E1257K			O14525	ASTN1_HUMAN	astrotactin 1	NA					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTTTGATCTCGCTGTAGCGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	90	91			NA	NA	1		NA											NA				176833536		2203	4300	6503	SO:0001627	intron_variant			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092	460	460			773	protein-coding gene	gene with protein product		600904	astrotactin	ASTN	NA	9070947	Standard	NM_004319	NM_001286164	NA	Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367657.3:c.3647+4443G>A	1.37:g.176833536C>T		NA	O60799|Q5W0V7|Q5W0V8	37		.	.	.	.	.	.	.	.	.	.	C	25.1	4.600256	0.87055	.	.	ENSG00000152092	ENST00000361833;ENST00000367654	T;T	0.14022	2.55;2.54	4.61	4.61	0.57282	.	0.047461	0.85682	D	0.000000	T	0.09774	0.0240	L	0.27053	0.805	0.80722	D	1	P	0.50710	0.938	B	0.33454	0.164	T	0.12218	-1.0556	10	0.87932	D	0	-23.1216	17.4153	0.87498	0.0:1.0:0.0:0.0	.	1257	O14525-2	.	K	1257;1265	ENSP00000354536:E1257K;ENSP00000356626:E1265K	ENSP00000354536:E1257K	E	-	1	0	ASTN1	175100159	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.018000	0.76406	2.282000	0.76494	0.555000	0.69702	GAG	ASTN1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000084823.1		-	ENST00000367657.3	Intron	SNP	1 : 176833536 - 176833536 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	645	100
BTBD11	121551	broad.mit.edu	37	12	108013765	108013765	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:108013765G>A	ENST00000280758.5	+	11	2983	c.2455G>A	c.(2455-2457)Gtc>Atc	p.V819I	BTBD11_ENST00000357167.4_Missense_Mutation_p.V356I|BTBD11_ENST00000490090.2_Missense_Mutation_p.V819I|BTBD11_ENST00000420571.2_Missense_Mutation_p.V700I	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	819						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGCTCCAGGCGTCCCGTGGAC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	25	24	24		1066,2455	5.2	1	12		24	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	BTBD11	NM_001017523.1,NM_001018072.1	29,29	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	356/642,819/1105	108013765	2,13004	2203	4300	6503	SO:0001583	missense			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136	121551	121551		BTB/POZ domain containing, Ankyrin repeat domain containing	23844	protein-coding gene	gene with protein product					NA		Standard	NM_152322	XM_005268645	NA	Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2455G>A	12.37:g.108013765G>A	ENSP00000280758:p.Val819Ile	NA	A4FU41|C9J019|C9JK80|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	37	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868192	0.91587	2.27E-4	1.16E-4	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	T;T;T;T	0.55052	0.65;0.65;0.67;0.54	5.15	5.15	0.70609	.	0.117935	0.56097	D	0.000021	T	0.72495	0.3467	M	0.70275	2.135	0.80722	D	1	D;P;D;D	0.71674	0.998;0.508;0.987;0.99	D;B;B;P	0.73708	0.981;0.073;0.403;0.496	T	0.75560	-0.3275	10	0.66056	D	0.02	.	18.6524	0.91435	0.0:0.0:1.0:0.0	.	700;356;819;819	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	I	819;700;819;356	ENSP00000280758:V819I;ENSP00000413889:V700I;ENSP00000447319:V819I;ENSP00000349690:V356I	ENSP00000280758:V819I	V	+	1	0	BTBD11	106537895	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	7.975000	0.88055	2.398000	0.81561	0.650000	0.86243	GTC	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318003.1		+	ENST00000280758.5	Missense_Mutation	SNP	12 : 108013765 - 108013765 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	138	32
CBLL1	79872	broad.mit.edu	37	7	107398626	107398626	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:107398626G>A	ENST00000415884.2	+	0	414				CBLL1_ENST00000222597.2_Missense_Mutation_p.R159Q|CBLL1_ENST00000440859.3_Missense_Mutation_p.R160Q			Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	NA					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CAGTGTACACGAGGTTCTCTC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	95	99			NA	NA	7		NA											NA				107398626		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879	79872	79872		RING-type (C3HC4) zinc fingers	21225	protein-coding gene	gene with protein product	Casitas B-lineage lymphoma-like	606872	Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1		NA	11836526, 11944035	Standard	NM_024814	NM_001284291	NA	Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000415884.2:c.*33G>A	7.37:g.107398626G>A		NA	Q8TAJ4|Q9H5S6	37		.	.	.	.	.	.	.	.	.	.	G	19.61	3.860457	0.71834	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000420796;ENST00000417616	T;T;T	0.32753	1.45;1.44;1.48	5.14	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	L	0.52759	1.655	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.77004	0.989;0.755	T	0.36432	-0.9748	10	0.28530	T	0.3	-2.0467	15.7175	0.77681	0.0:0.1374:0.8626:0.0	.	159;160	B7ZM03;Q75N03	.;HAKAI_HUMAN	Q	160;39;159;110;106	ENSP00000401277:R160Q;ENSP00000222597:R159Q;ENSP00000410615:R110Q	ENSP00000222597:R159Q	R	+	2	0	CBLL1	107185862	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.543000	0.98089	1.259000	0.44117	0.655000	0.94253	CGA	CBLL1-009	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000337160.2		+	ENST00000415884.2	3'UTR	SNP	7 : 107398626 - 107398626 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	333	140
CCL8	6355	broad.mit.edu	37	17	32647821	32647821	+	Splice_Site	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:32647821C>T	ENST00000394620.1	+	3	661	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	65					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TCCCCCACAGCTTCAAGACCA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	59	63			NA	NA	17		NA											NA				32647821		2203	4300	6503	SO:0001630	splice_region_variant			X99886	CCDS11280.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108700	ENSG00000108700	6355	6355		Chemokine ligands, Endogenous ligands	10635	protein-coding gene	gene with protein product		602283	small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2)	SCYA8	NA	9119400	Standard	NM_005623	NM_005623	NA	Approved	MCP-2, HC14	uc002hib.3	P80075	OTTHUMG00000132883	ENST00000394620.1:c.195-1C>T	17.37:g.32647821C>T		NA	A0AV77|P78388	37	CCDS11280.1																																																																																			CCL8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256376.2	Silent	+	ENST00000394620.1	Splice_Site	SNP	17 : 32647821 - 32647821 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	142	48
CDH2	1000	broad.mit.edu	37	18	25570188	25570188	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:25570188C>T	ENST00000399380.3	-	9	1414	c.1378G>A	c.(1378-1380)Gta>Ata	p.V460I	CDH2_ENST00000269141.3_Missense_Mutation_p.V491I			P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	491	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.V491I(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTTCATTTACGTCAATAACT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	cervix(1)						C	ILE/VAL	0,4406		0,0,2203	133	123	127		1471	6.2	1	18		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDH2	NM_001792.3	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	491/907	25570188	1,13005	2203	4300	6503	SO:0001583	missense			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558	1000	1000		CD molecules, Cadherins / Major cadherins	1759	protein-coding gene	gene with protein product	N-cadherin	114020		NCAD	NA	2384753, 7731968, 2216790	Standard	NM_001792	NM_001792	NA	Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000399380.3:c.1378G>A	18.37:g.25570188C>T	ENSP00000382312:p.Val460Ile	NA	B0YIY6|Q14923|Q8N173	37		.	.	.	.	.	.	.	.	.	.	C	19.67	3.871347	0.72065	0.0	1.16E-4	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.62232	0.04;0.04	6.16	6.16	0.99307	Cadherin (3);Cadherin-like (1);	0.056760	0.64402	D	0.000001	T	0.61476	0.2350	L	0.49699	1.58	0.80722	D	1	B;B	0.17268	0.021;0.007	B;B	0.08055	0.003;0.001	T	0.53961	-0.8364	10	0.49607	T	0.09	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	460;491	A8MWK3;P19022	.;CADH2_HUMAN	I	491;460	ENSP00000269141:V491I;ENSP00000382312:V460I	ENSP00000269141:V491I	V	-	1	0	CDH2	23824186	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GTA	CDH2-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000139363.3		-	ENST00000399380.3	Missense_Mutation	SNP	18 : 25570188 - 25570188 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	383	168
CHRNA9	55584	broad.mit.edu	37	4	40351422	40351422	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:40351422C>T	ENST00000310169.2	+	4	1028	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	297					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AGAAAATGTGCCCCTGATAGG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(115;1297 1602 22235 25158 43327)							NA				0													56	61	59			NA	NA	4		NA											NA				40351422		2202	4297	6499	SO:0001583	missense			AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343	55584	55584		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	14079	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, alpha 9 (neuronal)	605116	cholinergic receptor, nicotinic, alpha polypeptide 9		NA		Standard		NM_017581	NA	Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.889C>T	4.37:g.40351422C>T	ENSP00000312663:p.Pro297Ser	NA	Q14CY7|Q4W5A2|Q9NYV2	37	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005901	0.74932	.	.	ENSG00000174343	ENST00000310169	D	0.93859	-3.3	5.6	5.6	0.85130	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98107	1.0418	10	0.87932	D	0	.	19.6143	0.95626	0.0:1.0:0.0:0.0	.	297	Q9UGM1	ACHA9_HUMAN	S	297	ENSP00000312663:P297S	ENSP00000312663:P297S	P	+	1	0	CHRNA9	40046179	1.000000	0.71417	0.999000	0.59377	0.555000	0.35460	7.818000	0.86416	2.640000	0.89533	0.561000	0.74099	CCC	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216822.1		+	ENST00000310169.2	Missense_Mutation	SNP	4 : 40351422 - 40351422 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	249	5
COL24A1	255631	broad.mit.edu	37	1	86590761	86590761	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:86590761C>T	ENST00000370571.2	-	3	1624	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E420K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	420					cell adhesion	collagen	extracellular matrix structural constituent	p.E420*(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCATGAGTTCGTTAGTGTGT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											154	130	137			NA	NA	1		NA											NA				86590761		1866	4104	5970	SO:0001583	missense			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502	255631	255631		Collagens	20821	protein-coding gene	gene with protein product		610025			NA		Standard	NM_152890	NM_152890	NA	Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1258G>A	1.37:g.86590761C>T	ENSP00000359603:p.Glu420Lys	NA	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	9.195	1.026954	0.19512	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.11821	2.74;2.74	5.45	3.24	0.37175	.	0.000000	0.40640	N	0.001059	T	0.02418	0.0074	N	0.19112	0.55	0.35766	D	0.820548	B;B	0.27791	0.189;0.046	B;B	0.25506	0.061;0.005	T	0.29119	-1.0022	10	0.07990	T	0.79	.	10.6098	0.45415	0.0:0.8214:0.0:0.1786	.	420;420	F8WDM8;Q17RW2	.;COOA1_HUMAN	K	420	ENSP00000359603:E420K;ENSP00000392531:E420K	ENSP00000359603:E420K	E	-	1	0	COL24A1	86363349	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	2.119000	0.41958	1.307000	0.44944	0.563000	0.77884	GAA	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029335.4		-	ENST00000370571.2	Missense_Mutation	SNP	1 : 86590761 - 86590761 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	351	139
CPNE8	144402	broad.mit.edu	37	12	39117617	39117617	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:39117617A>T	ENST00000331366.5	-	13	967	c.871T>A	c.(871-873)Ttg>Atg	p.L291M	CPNE8_ENST00000360449.3_Missense_Mutation_p.L279M	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	291										NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GTTTCTACCAAGAAAGAGAGT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	91	91			NA	NA	12		NA											NA				39117617		2203	4300	6503	SO:0001583	missense			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117	144402	144402			23498	protein-coding gene	gene with protein product					NA	12670487	Standard	NM_153634	NM_153634	NA	Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.871T>A	12.37:g.39117617A>T	ENSP00000329748:p.Leu291Met	NA	Q2TB41	37	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781337	0.49891	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.25085	1.82;1.82	4.51	0.923	0.19413	.	0.174644	0.38720	N	0.001594	T	0.20047	0.0482	L	0.35854	1.095	0.48762	D	0.999705	P	0.37207	0.587	B	0.42882	0.401	T	0.03534	-1.1027	10	0.59425	D	0.04	-5.3906	4.2841	0.10846	0.582:0.1718:0.2463:0.0	.	291	Q86YQ8	CPNE8_HUMAN	M	291;279	ENSP00000329748:L291M;ENSP00000353633:L279M	ENSP00000329748:L291M	L	-	1	2	CPNE8	37403884	0.989000	0.36119	0.997000	0.53966	0.989000	0.77384	0.619000	0.24388	0.317000	0.23160	0.460000	0.39030	TTG	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403856.1		-	ENST00000331366.5	Missense_Mutation	SNP	12 : 39117617 - 39117617 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	632	164
CRTAC1	55118	broad.mit.edu	37	10	99696061	99696061	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:99696061G>A	ENST00000370597.3	-	3	642	c.287C>T	c.(286-288)gCg>gTg	p.A96V	CRTAC1_ENST00000370591.2_Missense_Mutation_p.A96V|CRTAC1_ENST00000298819.4_Missense_Mutation_p.A96V	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	96						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CTCATCGACCGCGATGTTCAC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	50	53			NA	NA	10		NA											NA				99696061		2203	4300	6503	SO:0001583	missense			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713	55118	55118			14882	protein-coding gene	gene with protein product		606276			NA	11139377	Standard	NM_018058	NM_018058	NA	Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.287C>T	10.37:g.99696061G>A	ENSP00000359629:p.Ala96Val	NA	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	37	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184476	0.78677	.	.	ENSG00000095713	ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.91635	0.704;0.999	T	0.43523	-0.9386	10	0.27785	T	0.31	-10.778	17.7665	0.88480	0.0:0.0:1.0:0.0	.	96;96	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	V	96;96;88;96	ENSP00000359629:A96V;ENSP00000298819:A96V;ENSP00000310810:A88V;ENSP00000359623:A96V	ENSP00000298819:A96V	A	-	2	0	CRTAC1	99686051	1.000000	0.71417	0.892000	0.35008	0.640000	0.38277	9.725000	0.98778	2.204000	0.70986	0.313000	0.20887	GCG	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049754.1		-	ENST00000370597.3	Missense_Mutation	SNP	10 : 99696061 - 99696061 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	311	69
CTNND2	1501	broad.mit.edu	37	5	10973809	10973809	+	Missense_Mutation	SNP	A	A	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:10973809A>C	ENST00000304623.8	-	22	3623	c.3434T>G	c.(3433-3435)gTc>gGc	p.V1145G	CTNND2_ENST00000458100.2_Missense_Mutation_p.V712G|CTNND2_ENST00000503622.1_Missense_Mutation_p.V808G|CTNND2_ENST00000359640.2_Missense_Mutation_p.V1087G|CTNND2_ENST00000511377.1_Missense_Mutation_p.V1054G|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1145					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCCTGTGGGACTGGCTGTGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	77	79			NA	NA	5		NA											NA				10973809		2203	4300	6503	SO:0001583	missense			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862	1501	1501		Armadillo repeat containing	2516	protein-coding gene	gene with protein product	neural plakophilin-related arm-repeat protein	604275	catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)		NA	9342840, 9223106	Standard	NM_001332	XM_005248251	NA	Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3434T>G	5.37:g.10973809A>C	ENSP00000307134:p.Val1145Gly	NA	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	A	6.986	0.551943	0.13374	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.78595	-1.08;-1.15;-1.07;-1.19;-1.19	5.93	2.29	0.28610	.	0.757929	0.12479	N	0.465306	T	0.57021	0.2025	N	0.08118	0	0.80722	D	1	B;B;B	0.26318	0.002;0.035;0.146	B;B;B	0.24974	0.004;0.012;0.057	T	0.35943	-0.9768	10	0.26408	T	0.33	-15.0539	9.4259	0.38578	0.8:0.0:0.2:0.0	.	808;737;1145	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	G	1145;1087;1054;240;712;808	ENSP00000307134:V1145G;ENSP00000352661:V1087G;ENSP00000426510:V1054G;ENSP00000391155:V712G;ENSP00000426887:V808G	ENSP00000307134:V1145G	V	-	2	0	CTNND2	11026809	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	4.062000	0.57492	0.162000	0.19483	0.533000	0.62120	GTC	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206999.1		-	ENST00000304623.8	Missense_Mutation	SNP	5 : 10973809 - 10973809 C PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	233	103
DCHS2	54798	broad.mit.edu	37	4	155156138	155156138	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:155156138C>T	ENST00000357232.4	-	25	8300	c.8301G>A	c.(8299-8301)acG>acA	p.T2767T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	NA					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATCAGAGGTCGTCTGAGTTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	95	97			NA	NA	4		NA											NA				155156138		2203	4300	6503	SO:0001819	synonymous_variant			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410	54798	54798		Cadherins / Cadherin-related	23111	protein-coding gene	gene with protein product	cadherin-related family member 7	612486	cadherin-like 27, dachsous 2 (Drosophila)	CDH27, PCDH23	NA	15003449	Standard	NM_001142552	NM_017639	NA	Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8301G>A	4.37:g.155156138C>T		NA	Q4W5P9|Q6ZS61|Q9NXU8	37	CCDS3785.1																																																																																			DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365281.2		-	ENST00000357232.4	Silent	SNP	4 : 155156138 - 155156138 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	121	4
DND1	373863	broad.mit.edu	37	5	140052939	140052939	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:140052939G>A	ENST00000542735.1	-	2	102	c.59C>T	c.(58-60)gCg>gTg	p.A20V	HARS_ENST00000504156.1_3'UTR	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	20					multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGCGCCGCCTTGTTCTC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	59	59			NA	NA	5		NA											NA				140052939		2203	4300	6503	SO:0001583	missense			AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453	373863	373863		RNA binding motif (RRM) containing	23799	protein-coding gene	gene with protein product		609385	dead end homolog 1 (zebrafish)		NA	12932328	Standard	NM_194249	NM_194249	NA	Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.59C>T	5.37:g.140052939G>A	ENSP00000445366:p.Ala20Val	NA		37	CCDS4236.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290610	0.40494	.	.	ENSG00000256453	ENST00000542735	T	0.34859	1.34	4.58	4.58	0.56647	.	0.209202	0.33457	N	0.004895	T	0.20333	0.0489	N	0.20574	0.59	0.80722	D	1	P	0.35401	0.499	B	0.23716	0.048	T	0.06516	-1.0822	10	0.37606	T	0.19	-6.6743	12.0698	0.53609	0.0868:0.0:0.9132:0.0	.	20	Q8IYX4	DND1_HUMAN	V	20	ENSP00000445366:A20V	ENSP00000445366:A20V	A	-	2	0	DND1	140033123	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.251000	0.43187	2.358000	0.79984	0.462000	0.41574	GCG	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251669.2		-	ENST00000542735.1	Missense_Mutation	SNP	5 : 140052939 - 140052939 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	502	106
DSCAM	1826	broad.mit.edu	37	21	41385178	41385178	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr21:41385178G>A	ENST00000400454.1	-	33	6299	c.5822C>T	c.(5821-5823)aCg>aTg	p.T1941M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1941				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCCAGGACCGTGGGGCGCTT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(134;970 1778 1785 21664 32388)							NA				0													38	41	40			NA	NA	21		NA											NA				41385178		1960	4142	6102	SO:0001583	missense			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587	1826	1826		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	3039	protein-coding gene	gene with protein product		602523			NA	9426258	Standard	NM_001389	NM_001271534	NA	Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5822C>T	21.37:g.41385178G>A	ENSP00000383303:p.Thr1941Met	NA	O60468	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	.	19.61	3.860756	0.71834	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.59638	0.25;0.36	5.29	5.29	0.74685	.	0.345440	0.33180	N	0.005197	T	0.38585	0.1046	N	0.08118	0	0.43073	D	0.994714	P	0.48640	0.913	B	0.36666	0.23	T	0.52931	-0.8509	10	0.72032	D	0.01	.	18.9499	0.92637	0.0:0.0:1.0:0.0	.	1941	O60469	DSCAM_HUMAN	M	1941;1675	ENSP00000383303:T1941M;ENSP00000385342:T1675M	ENSP00000383303:T1941M	T	-	2	0	DSCAM	40307048	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.219000	0.95173	2.464000	0.83262	0.557000	0.71058	ACG	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195029.1		-	ENST00000400454.1	Missense_Mutation	SNP	21 : 41385178 - 41385178 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	220	91
EXOC7	23265	broad.mit.edu	37	17	74097870	74097870	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:74097870C>T	ENST00000589210.1	-	3	266	c.201G>A	c.(199-201)acG>acA	p.T67T	EXOC7_ENST00000411744.2_Silent_p.T67T|EXOC7_ENST00000467929.2_Silent_p.T26T|EXOC7_ENST00000405575.4_Silent_p.T67T|EXOC7_ENST00000332065.5_Silent_p.T67T|EXOC7_ENST00000406660.3_Silent_p.T67T|EXOC7_ENST00000607838.1_Silent_p.T67T|EXOC7_ENST00000335146.7_Silent_p.T67T	NM_001013839.2	NP_001013861.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	67					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GCAGATTCTCCGTCTGCTTGT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	86	89			NA	NA	17		NA											NA				74097870		2203	4300	6503	SO:0001819	synonymous_variant			BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473	23265	23265			23214	protein-coding gene	gene with protein product		608163			NA	12477932	Standard	NM_015219	NM_001013839	NA	Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000589210.1:c.201G>A	17.37:g.74097870C>T		NA	B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	37	CCDS32738.1																																																																																			EXOC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319763.2		-	ENST00000589210.1	Silent	SNP	17 : 74097870 - 74097870 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	259	119
FAM178A	55719	broad.mit.edu	37	10	102672997	102672997	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:102672997C>T	ENST00000238961.4	+	1	672	c.130C>T	c.(130-132)Cct>Tct	p.P44S	FAM178A_ENST00000370271.3_Missense_Mutation_p.P44S|FAM178A_ENST00000370269.3_Missense_Mutation_p.P44S|FAM178A_ENST00000609386.1_Missense_Mutation_p.P44S	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	NA											NA						AACAGAGAGTCCTGGGGACAG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	24	23			NA	NA	10		NA											NA				102672997		2199	4300	6499	SO:0001583	missense			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906	NA	55719			17814	protein-coding gene	gene with protein product		610348	chromosome 10 open reading frame 6	C10orf6	NA	12459258	Standard		NM_018121	NA	Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.130C>T	10.37:g.102672997C>T	ENSP00000238961:p.Pro44Ser	NA	A8K950|Q5W0L8|Q9NPE8	37	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545875	0.86022	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.61392	0.11;0.85;0.81	5.25	5.25	0.73442	.	0.000000	0.53938	D	0.000044	T	0.63745	0.2537	N	0.24115	0.695	0.35168	D	0.771306	D;D;D	0.89917	0.995;0.995;1.0	D;D;D	0.87578	0.919;0.919;0.998	T	0.72204	-0.4361	10	0.72032	D	0.01	-15.2639	14.5237	0.67873	0.0:1.0:0.0:0.0	.	44;44;44	Q8IX21;B1AL17;B1AL16	F178A_HUMAN;.;.	S	44	ENSP00000359294:P44S;ENSP00000238961:P44S;ENSP00000359292:P44S	ENSP00000238961:P44S	P	+	1	0	FAM178A	102662987	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.254000	0.51477	2.890000	0.99128	0.585000	0.79938	CCT	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049897.3		+	ENST00000238961.4	Missense_Mutation	SNP	10 : 102672997 - 102672997 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	51	18
FANCD2	2177	broad.mit.edu	37	3	10107621	10107621	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:10107621C>T	ENST00000287647.3	+	25	2436	c.2343C>T	c.(2341-2343)ttC>ttT	p.F781F	FANCD2_ENST00000383807.1_Silent_p.F781F|FANCD2_ENST00000419585.1_Silent_p.F781F|FANCD2_ENST00000383806.1_Silent_p.F781F	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	781					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGCGTTCATTCATGTGTTCTC	0.393		NA	D, Mis, N, F			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Fanconi anaemia D2	3	3p26	2177	Fanconi anemia, complementation group D2		L	0													151	124	133			NA	NA	3		NA											NA				10107621		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554	2177	2177		Fanconi anemia, complementation groups	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD	NA	7581463, 11239453, 18475298	Standard		XM_005264946	NA	Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000287647.3:c.2343C>T	3.37:g.10107621C>T		NA	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	37	CCDS2595.1																																																																																			FANCD2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250562.2		+	ENST00000287647.3	Silent	SNP	3 : 10107621 - 10107621 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	335	77
FAT2	2196	broad.mit.edu	37	5	150923873	150923873	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:150923873A>G	ENST00000261800.5	-	9	6827	c.6815T>C	c.(6814-6816)tTt>tCt	p.F2272S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2272	Cadherin 19.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAATTGGGAAAAAGTGGGAGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	99	100			NA	NA	5		NA											NA				150923873		2203	4300	6503	SO:0001583	missense			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570	2196	2196		Cadherins / Cadherin-related	3596	protein-coding gene	gene with protein product	cadherin-related family member 9	604269	FAT tumor suppressor (Drosophila) homolog 2, FAT tumor suppressor homolog 2 (Drosophila)		NA	9693030	Standard	NM_001447	NM_001447	NA	Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6815T>C	5.37:g.150923873A>G	ENSP00000261800:p.Phe2272Ser	NA	O75091|Q9NSR7	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.513047	0.64522	.	.	ENSG00000086570	ENST00000261800	T	0.32023	1.47	5.68	5.68	0.88126	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.69860	0.3158	H	0.96604	3.85	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.81348	-0.0973	10	0.87932	D	0	.	15.938	0.79729	1.0:0.0:0.0:0.0	.	2272	Q9NYQ8	FAT2_HUMAN	S	2272	ENSP00000261800:F2272S	ENSP00000261800:F2272S	F	-	2	0	FAT2	150904066	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.252000	0.95491	2.167000	0.68274	0.459000	0.35465	TTT	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252434.1		-	ENST00000261800.5	Missense_Mutation	SNP	5 : 150923873 - 150923873 G PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	153	4
FAT2	2196	broad.mit.edu	37	5	150885588	150885588	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:150885588G>A	ENST00000261800.5	-	23	12600	c.12588C>T	c.(12586-12588)tcC>tcT	p.S4196S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4196					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGTCACTTCGGAGTGGGGGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	83	77			NA	NA	5		NA											NA				150885588		2195	4294	6489	SO:0001819	synonymous_variant			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570	2196	2196		Cadherins / Cadherin-related	3596	protein-coding gene	gene with protein product	cadherin-related family member 9	604269	FAT tumor suppressor (Drosophila) homolog 2, FAT tumor suppressor homolog 2 (Drosophila)		NA	9693030	Standard	NM_001447	NM_001447	NA	Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12588C>T	5.37:g.150885588G>A		NA	O75091|Q9NSR7	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	0.702	-0.790312	0.02884	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.02	-5.86	0.02304	.	.	.	.	.	.	.	.	.	.	.	0.29771	N	0.83475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4588	0.27283	0.3167:0.2335:0.4498:0.0	.	.	.	.	X	969	.	.	R	-	1	2	FAT2	150865781	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	-2.499000	0.00968	-0.718000	0.04949	-0.459000	0.05422	CGA	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252434.1		-	ENST00000261800.5	Silent	SNP	5 : 150885588 - 150885588 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	629	176
FIGNL1	63979	broad.mit.edu	37	7	50513641	50513641	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:50513641G>T	ENST00000419119.1	-	2	2898	c.1345C>A	c.(1345-1347)Cta>Ata	p.L449I	FIGNL1_ENST00000356889.4_Missense_Mutation_p.L449I|FIGNL1_ENST00000395556.2_Missense_Mutation_p.L449I|FIGNL1_ENST00000433017.1_Missense_Mutation_p.L449I			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	449					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	p.L449L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTGCCAATTAGAGTTTTACCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											52	53	53			NA	NA	7		NA											NA				50513641		2203	4300	6503	SO:0001583	missense			AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436	63979	63979		ATPases / AAA-type	13286	protein-coding gene	gene with protein product		615383			NA		Standard	NM_001042762	XM_005271783	NA	Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1345C>A	7.37:g.50513641G>T	ENSP00000410811:p.Leu449Ile	NA	D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	37	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031312	0.75504	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68	5.99	4.18	0.49190	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	D	0.97573	0.9205	M	0.92970	3.365	0.80722	D	1	D	0.64830	0.994	D	0.76071	0.987	D	0.98137	1.0434	10	0.72032	D	0.01	-9.5128	12.3571	0.55182	0.1376:0.0:0.8624:0.0	.	449	Q6PIW4	FIGL1_HUMAN	I	449	ENSP00000349356:L449I;ENSP00000378924:L449I;ENSP00000399997:L449I;ENSP00000410811:L449I	ENSP00000349356:L449I	L	-	1	2	FIGNL1	50481135	1.000000	0.71417	0.899000	0.35326	0.997000	0.91878	6.779000	0.75057	1.538000	0.49270	0.655000	0.94253	CTA	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342579.1		-	ENST00000419119.1	Missense_Mutation	SNP	7 : 50513641 - 50513641 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	147	4
GPR156	165829	broad.mit.edu	37	3	119962542	119962542	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:119962542C>T	ENST00000464295.1	-	3	623	c.178G>A	c.(178-180)Gga>Aga	p.G60R	GPR156_ENST00000461057.1_Missense_Mutation_p.G60R|GPR156_ENST00000315843.3_Missense_Mutation_p.G60R			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	60						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGCAGAAGTCCACAGCTGAGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	116	121			NA	NA	3		NA											NA				119962542		2203	4300	6503	SO:0001583	missense			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697	165829	165829		GPCR / Class C : Orphans	20844	protein-coding gene	gene with protein product		610464			NA	12591167	Standard	NM_153002	NM_153002	NA	Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.178G>A	3.37:g.119962542C>T	ENSP00000417261:p.Gly60Arg	NA	Q14CM1|Q86SN6	37	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949646	0.73787	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	D;D;D	0.91945	-2.94;-2.94;-2.94	5.2	4.31	0.51392	GPCR, family 3, C-terminal (2);	0.089971	0.46758	D	0.000261	D	0.95974	0.8689	M	0.88512	2.96	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	D	0.95894	0.8909	9	.	.	.	-13.3173	10.9026	0.47059	0.187:0.813:0.0:0.0	.	60;60	E9PFZ4;Q8NFN8	.;GP156_HUMAN	R	60	ENSP00000417261:G60R;ENSP00000324553:G60R;ENSP00000418758:G60R	.	G	-	1	0	GPR156	121445232	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.539000	0.60657	1.385000	0.46445	0.650000	0.86243	GGA	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355139.1		-	ENST00000464295.1	Missense_Mutation	SNP	3 : 119962542 - 119962542 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	441	131
GPSM1	26086	broad.mit.edu	37	9	139228944	139228944	+	Missense_Mutation	SNP	C	C	T	rs140085951		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:139228944C>T	ENST00000392945.3	+	2	329	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C	GPSM1_ENST00000440944.1_Missense_Mutation_p.R37C	NM_015597.4	NP_056412.5	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	37	Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGAGGGCGAGCGTCTGTGCAA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	52	53			NA	NA	9		NA											NA				139228944		2202	4299	6501	SO:0001583	missense			AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360	26086	26086		Tetratricopeptide (TTC) repeat domain containing	17858	protein-coding gene	gene with protein product	AGS3 homolog (C. elegans)	609491	G-protein signalling modulator 1 (AGS3-like, C. elegans)		NA	11278352, 10969064	Standard	NM_015597	NM_001145639	NA	Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000392945.3:c.109C>T	9.37:g.139228944C>T	ENSP00000376674:p.Arg37Cys	NA	A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	37	CCDS6996.2	.	.	.	.	.	.	.	.	.	.	c	19.82	3.899125	0.72754	.	.	ENSG00000160360	ENST00000392945;ENST00000440944;ENST00000354753	T;T;T	0.75477	-0.94;-0.94;-0.0	4.66	3.65	0.41850	.	0.000000	0.64402	U	0.000001	D	0.84397	0.5463	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86778	0.1977	10	0.87932	D	0	-12.3547	14.5162	0.67821	0.1569:0.8431:0.0:0.0	.	37;37	Q86YR5;Q86YR5-3	GPSM1_HUMAN;.	C	37;37;14	ENSP00000376674:R37C;ENSP00000392828:R37C;ENSP00000346797:R14C	ENSP00000346797:R14C	R	+	1	0	GPSM1	138348765	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	1.805000	0.38883	2.113000	0.64589	0.556000	0.70494	CGT	GPSM1-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253513.2		+	ENST00000392945.3	Missense_Mutation	SNP	9 : 139228944 - 139228944 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	131	25
HECTD1	25831	broad.mit.edu	37	14	31576215	31576215	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:31576215T>A	ENST00000399332.1	-	38	7351	c.6863A>T	c.(6862-6864)tAt>tTt	p.Y2288F	HECTD1_ENST00000553700.1_Missense_Mutation_p.Y2288F	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2288	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCGTGACTCATAAATCAGTTT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	77	79			NA	NA	14		NA											NA				31576215		1851	4100	5951	SO:0001583	missense			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148	25831	25831		Ankyrin repeat domain containing	20157	protein-coding gene	gene with protein product			HECT domain containing 1		NA	10574461	Standard		XM_005267502	NA	Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6863A>T	14.37:g.31576215T>A	ENSP00000382269:p.Tyr2288Phe	NA	Q6P445|Q86VJ1|Q96F34|Q9UFZ7	37	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.57|11.57	1.677590|1.677590	0.29783|0.29783	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332	.|T;T	.|0.39406	.|1.08;1.08	5.96|5.96	5.96|5.96	0.96718|0.96718	.|HECT (4);	.|0.085238	.|0.49305	.|U	.|0.000145	T|T	0.38161|0.38161	0.1030|0.1030	N|N	0.03608|0.03608	-0.345|-0.345	0.58432|0.58432	D|D	0.999996|0.999996	.|D	.|0.57257	.|0.979	.|D	.|0.71414	.|0.973	T|T	0.39563|0.39563	-0.9608|-0.9608	5|10	.|0.11794	.|T	.|0.64	-10.4726|-10.4726	15.0049|15.0049	0.71504|0.71504	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2288	.|Q9ULT8	.|HECD1_HUMAN	L|F	654|2288;2290;2288	.|ENSP00000450697:Y2288F;ENSP00000382269:Y2288F	.|ENSP00000261312:Y2290F	M|Y	-|-	1|2	0|0	HECTD1|HECTD1	30645966|30645966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.694000|7.694000	0.84235|0.84235	2.270000|2.270000	0.75569|0.75569	0.533000|0.533000	0.62120|0.62120	ATG|TAT	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409942.1		-	ENST00000399332.1	Missense_Mutation	SNP	14 : 31576215 - 31576215 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	210	6
HIPK3	10114	broad.mit.edu	37	11	33369721	33369721	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:33369721G>C	ENST00000303296.4	+	12	2621	c.2316G>C	c.(2314-2316)ttG>ttC	p.L772F	HIPK3_ENST00000379016.3_Intron|HIPK3_ENST00000456517.1_Intron|HIPK3_ENST00000525975.1_Intron	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	772	Interaction with AR (By similarity).				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GAGGTATTTTGGTAAAACTAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	79	81			NA	NA	11		NA											NA				33369721		2202	4298	6500	SO:0001583	missense			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422	10114	10114			4915	protein-coding gene	gene with protein product		604424	homeodomain-interacting protein kinase 3		NA	9373137, 9748262	Standard	NM_005734	NM_005734	NA	Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2316G>C	11.37:g.33369721G>C	ENSP00000304226:p.Leu772Phe	NA	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	37	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517978	0.27211	.	.	ENSG00000110422	ENST00000303296	T	0.23348	1.91	5.74	5.74	0.90152	.	0.162090	0.29314	N	0.012518	T	0.13713	0.0332	N	0.14661	0.345	0.80722	D	1	P	0.35908	0.527	B	0.33042	0.157	T	0.12066	-1.0562	10	0.09843	T	0.71	.	13.1561	0.59518	0.0728:0.0:0.9272:0.0	.	772	Q9H422	HIPK3_HUMAN	F	772	ENSP00000304226:L772F	ENSP00000304226:L772F	L	+	3	2	HIPK3	33326297	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	3.785000	0.55424	2.707000	0.92482	0.557000	0.71058	TTG	HIPK3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255358.1		+	ENST00000303296.4	Missense_Mutation	SNP	11 : 33369721 - 33369721 C PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	252	88
HK3	3101	broad.mit.edu	37	5	176318141	176318141	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:176318141C>T	ENST00000292432.5	-	4	402	c.311G>A	c.(310-312)cGt>cAt	p.R104H		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	104	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACAAAACACGCAGTGAGGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	58	58			NA	NA	5		NA											NA				176318141		2203	4300	6503	SO:0001583	missense				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	3101	3101	2.7.1.1		4925	protein-coding gene	gene with protein product		142570			NA	8812439	Standard		NM_002115	NA	Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.311G>A	5.37:g.176318141C>T	ENSP00000292432:p.Arg104His	NA	Q8N1E7	37	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504410	0.85176	.	.	ENSG00000160883	ENST00000292432	D	0.99724	-6.54	4.96	4.96	0.65561	Hexokinase, N-terminal (1);	0.000000	0.51477	D	0.000081	D	0.99664	0.9875	M	0.87900	2.915	0.32374	N	0.55541	D	0.71674	0.998	D	0.62955	0.909	D	0.97938	1.0324	10	0.62326	D	0.03	-7.6649	17.1545	0.86787	0.0:1.0:0.0:0.0	.	104	P52790	HXK3_HUMAN	H	104	ENSP00000292432:R104H	ENSP00000292432:R104H	R	-	2	0	HK3	176250747	0.996000	0.38824	0.984000	0.44739	0.870000	0.49936	4.152000	0.58111	2.460000	0.83146	0.561000	0.74099	CGT	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253428.1		-	ENST00000292432.5	Missense_Mutation	SNP	5 : 176318141 - 176318141 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	410	112
INHBB	3625	broad.mit.edu	37	2	121106698	121106698	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:121106698C>T	ENST00000295228.3	+	2	518	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	158					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CTCCCGGGTCCGCCTATACTT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	60	59			NA	NA	2		NA											NA				121106698		2203	4300	6503	SO:0001583	missense				CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083	3625	3625		Endogenous ligands	6067	protein-coding gene	gene with protein product		147390	inhibin, beta B (activin AB beta polypeptide)		NA	3345731	Standard		NM_002193	NA	Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.472C>T	2.37:g.121106698C>T	ENSP00000295228:p.Arg158Cys	NA	Q53T31|Q8N1D3	37	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070536	0.55539	.	.	ENSG00000163083	ENST00000295228	T	0.66995	-0.24	5.09	5.09	0.68999	Transforming growth factor-beta, N-terminal (1);	0.216528	0.39210	N	0.001426	T	0.61751	0.2372	L	0.54323	1.7	0.47698	D	0.999492	B	0.17667	0.023	B	0.12837	0.008	T	0.60667	-0.7218	10	0.59425	D	0.04	-3.9508	12.8184	0.57679	0.1636:0.8364:0.0:0.0	.	158	P09529	INHBB_HUMAN	C	158	ENSP00000295228:R158C	ENSP00000295228:R158C	R	+	1	0	INHBB	120823168	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	1.726000	0.38085	2.804000	0.96469	0.655000	0.94253	CGC	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254234.1		+	ENST00000295228.3	Missense_Mutation	SNP	2 : 121106698 - 121106698 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	474	136
ISLR2	57611	broad.mit.edu	37	15	74425848	74425848	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:74425848C>T	ENST00000361742.3	+	4	1522	c.753C>T	c.(751-753)cgC>cgT	p.R251R	ISLR2_ENST00000453268.2_Silent_p.R251R|ISLR2_ENST00000445793.1_Silent_p.R251R|ISLR2_ENST00000435464.1_Silent_p.R251R|ISLR2_ENST00000565540.1_Silent_p.R251R|ISLR2_ENST00000419208.1_Silent_p.R251R|ISLR2_ENST00000565159.1_Silent_p.R251R|ISLR2_ENST00000561975.1_Intron	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	251	Ig-like.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCCCACTGCGCGCAGGACTGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	34	34			NA	NA	15		NA											NA				74425848		2196	4296	6492	SO:0001819	synonymous_variant				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178	57611	57611		Immunoglobulin superfamily / Immunoglobulin-like domain containing	29286	protein-coding gene	gene with protein product		614179			NA	10819331, 12975309	Standard	NM_020851	NM_001130136	NA	Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.753C>T	15.37:g.74425848C>T		NA	A8K352|Q9P263	37	CCDS10259.1																																																																																			ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269046.1		+	ENST00000361742.3	Silent	SNP	15 : 74425848 - 74425848 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	327	98
ITGA6	3655	broad.mit.edu	37	2	173333979	173333979	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:173333979T>A	ENST00000264107.7	+	4	748	c.514T>A	c.(514-516)Tgg>Agg	p.W172R	ITGA6_ENST00000409532.1_Missense_Mutation_p.W58R|ITGA6_ENST00000409080.1_Missense_Mutation_p.W172R|ITGA6_ENST00000375221.2_Missense_Mutation_p.W172R|ITGA6_ENST00000264106.6_Missense_Mutation_p.W172R|ITGA6_ENST00000343713.4_Missense_Mutation_p.W172R	NM_000210.2	NP_000201.2	P23229	ITA6_HUMAN	integrin, alpha 6	172					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGGGGGAGATTGGAGCTTTTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	169	171			NA	NA	2		NA											NA				173333979		2203	4300	6503	SO:0001583	missense				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409	NA	3655		CD molecules, Integrins	6142	protein-coding gene	gene with protein product		147556			NA		Standard		NM_001079818	NA	Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264107.7:c.514T>A	2.37:g.173333979T>A	ENSP00000264107:p.Trp172Arg	NA	B2RMU9|B4DG69|B4DKB8|C4AM96|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	37	CCDS2249.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597715	0.66332	.	.	ENSG00000091409	ENST00000412899;ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.68943	0.3056	M	0.77406	2.37	0.80722	D	1	B;B;P	0.43578	0.313;0.448;0.811	B;P;P	0.54346	0.279;0.55;0.749	T	0.66748	-0.5845	10	0.33141	T	0.24	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	172;172;172	P23229-4;G5E9H1;P23229-2	.;.;.	R	58;58;172;172;172;172;172;172;172	ENSP00000413470:W58R;ENSP00000386614:W58R;ENSP00000264107:W172R;ENSP00000264106:W172R;ENSP00000364369:W172R;ENSP00000341078:W172R;ENSP00000386896:W172R;ENSP00000406694:W172R;ENSP00000394169:W172R	ENSP00000264106:W172R	W	+	1	0	ITGA6	173042225	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TGG	ITGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255369.2		+	ENST00000264107.7	Missense_Mutation	SNP	2 : 173333979 - 173333979 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	860	258
ITPR1	3708	broad.mit.edu	37	3	4722339	4722339	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:4722339G>A	ENST00000357086.4	+	25	3391	c.3043G>A	c.(3043-3045)Gga>Aga	p.G1015R	ITPR1_ENST00000354582.6_Missense_Mutation_p.G1024R|ITPR1_ENST00000423119.2_Missense_Mutation_p.G1015R|ITPR1_ENST00000443694.2_Missense_Mutation_p.G1009R|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.G1000R|ITPR1_ENST00000302640.8_Missense_Mutation_p.G1009R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1024					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AACATCCTCCGGAAACAGCAG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	60	60			NA	NA	3		NA											NA				4722339		1876	4104	5980	SO:0001583	missense			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995	3708	3708		Ion channels / Inositol triphosphate receptors	6180	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 94	147265	spinocerebellar ataxia 15, spinocerebellar ataxia 16, spinocerebellar ataxia 29	SCA15, SCA16, SCA29	NA	7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_002222	NM_001099952	NA	Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000357086.4:c.3043G>A	3.37:g.4722339G>A	ENSP00000349597:p.Gly1015Arg	NA	Q14660|Q99897	37	CCDS46740.2	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700462	0.48307	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.56	5.56	0.83823	.	0.236966	0.43260	D	0.000598	T	0.50735	0.1633	M	0.69358	2.11	0.80722	D	1	B;B;P	0.36837	0.308;0.311;0.571	B;B;B	0.32090	0.027;0.02;0.14	T	0.50320	-0.8842	10	0.26408	T	0.33	.	17.7004	0.88293	0.0:0.0:1.0:0.0	.	1009;1024;1015	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	R	1024;1009;1024;1015;1015;1000;1009	ENSP00000306253:G1009R;ENSP00000346595:G1024R;ENSP00000405934:G1015R;ENSP00000349597:G1015R;ENSP00000397885:G1000R;ENSP00000401671:G1009R	ENSP00000306253:G1009R	G	+	1	0	ITPR1	4697339	1.000000	0.71417	0.968000	0.41197	0.959000	0.62525	6.688000	0.74557	2.599000	0.87857	0.591000	0.81541	GGA	ITPR1-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337979.3		+	ENST00000357086.4	Missense_Mutation	SNP	3 : 4722339 - 4722339 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	129	64
KCNA6	3742	broad.mit.edu	37	12	4920011	4920011	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:4920011G>A	ENST00000280684.3	+	1	1670	c.804G>A	c.(802-804)acG>acA	p.T268T	KCNA6_ENST00000433855.1_Silent_p.T268T			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	268						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGGTGGAGACGCTGTGCATTG	0.562		NA								HNSCC(72;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	88	89			NA	NA	12		NA											NA				4920011		2203	4300	6503	SO:0001819	synonymous_variant			X17622	CCDS8534.1	12p13	2014-06-12					3742	3742		Potassium channels, Voltage-gated ion channels / Potassium channels	6225	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 96	176257			NA	16382104	Standard	NM_002235	NM_002235	NA	Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.804G>A	12.37:g.4920011G>A		NA		37	CCDS8534.1																																																																																			KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398909.1		+	ENST00000280684.3	Silent	SNP	12 : 4920011 - 4920011 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	506	150
KIF24	347240	broad.mit.edu	37	9	34256761	34256761	+	Silent	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:34256761A>G	ENST00000402558.2	-	10	2868	c.2844T>C	c.(2842-2844)taT>taC	p.Y948Y	KIF24_ENST00000379174.3_Silent_p.Y814Y|KIF24_ENST00000379166.2_Silent_p.Y948Y|KIF24_ENST00000345050.2_Silent_p.Y814Y			Q5T7B8	KIF24_HUMAN	kinesin family member 24	948					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTTCCTGTCTATATATGAAAT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	88	85			NA	NA	9		NA											NA				34256761		2203	4300	6503	SO:0001819	synonymous_variant			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638	347240	347240		Kinesins, Sterile alpha motif (SAM) domain containing	19916	protein-coding gene	gene with protein product		613747	chromosome 9 open reading frame 48	C9orf48	NA	12477932	Standard		NM_194313	NA	Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.2844T>C	9.37:g.34256761A>G		NA	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	37	CCDS6551.2																																																																																			KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052150.5		-	ENST00000402558.2	Silent	SNP	9 : 34256761 - 34256761 G PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	499	151
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>T	12.37:g.25398284C>A	ENSP00000308495:p.Gly12Val	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	401	123
MAGEL2	54551	broad.mit.edu	37	15	23890209	23890209	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:23890209G>A	ENST00000532292.1	-	1	966	c.872C>T	c.(871-873)gCc>gTc	p.A291V		NM_019066.4	NP_061939.3			MAGE-like 2	NA										breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GTCCTCTTGGGCTTCCAGATG	0.632		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	15		NA											NA				23890209		2177	4288	6465	SO:0001583	missense			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585	54551	54551			6814	protein-coding gene	gene with protein product		605283		NDNL1	NA	10556298	Standard	NM_019066	NM_019066	NA	Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.872C>T	15.37:g.23890209G>A	ENSP00000433433:p.Ala291Val	NA		37		.	.	.	.	.	.	.	.	.	.	G	7.175	0.588375	0.13812	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.22	3.3	0.37823	.	.	.	.	.	T	0.18593	0.0446	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.19877	-1.0292	5	.	.	.	.	7.8726	0.29576	0.1098:0.0:0.8901:0.0	.	.	.	.	S	323	.	.	P	-	1	0	MAGEL2	21441302	0.001000	0.12720	0.002000	0.10522	0.299000	0.27559	0.810000	0.27183	1.364000	0.46038	0.655000	0.94253	CCC	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000395182.2		-	ENST00000532292.1	Missense_Mutation	SNP	15 : 23890209 - 23890209 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	285	21
MINA	84864	broad.mit.edu	37	3	97669652	97669652	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:97669652C>T	ENST00000333396.7	-	6	1448	c.866G>A	c.(865-867)gGc>gAc	p.G289D	MINA_ENST00000394198.2_Missense_Mutation_p.G289D|MINA_ENST00000360258.4_Missense_Mutation_p.G289D	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen	NA					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CCGGGGTATGCCGGTCCGTAA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	83	85			NA	NA	3		NA											NA				97669652		2203	4300	6503	SO:0001583	missense			AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854	84864	84864			19441	protein-coding gene	gene with protein product		612049			NA	12091391	Standard	NM_032778	NM_001042533	NA	Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.866G>A	3.37:g.97669652C>T	ENSP00000328251:p.Gly289Asp	NA	D3DN35|Q6AHW4|Q6SKS0|Q8IU69|Q8IUF6|Q8IUF7|Q96C17|Q96KB0	37	CCDS43114.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666304	0.88251	.	.	ENSG00000170854	ENST00000442492;ENST00000333396;ENST00000394198;ENST00000360258	T;T;T	0.18502	2.21;2.21;2.21	5.91	5.91	0.95273	Cupin, JmjC-type (1);	0.044809	0.85682	D	0.000000	T	0.47820	0.1466	M	0.85710	2.77	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.991;0.995	T	0.32561	-0.9902	10	0.22109	T	0.4	-16.5243	20.2985	0.98592	0.0:1.0:0.0:0.0	.	289;289	Q8IUF8-4;Q8IUF8	.;MINA_HUMAN	D	35;289;289;289	ENSP00000328251:G289D;ENSP00000377748:G289D;ENSP00000353395:G289D	ENSP00000328251:G289D	G	-	2	0	MINA	99152342	1.000000	0.71417	0.955000	0.39395	0.680000	0.39746	6.189000	0.72051	2.793000	0.96121	0.655000	0.94253	GGC	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359244.3		-	ENST00000333396.7	Missense_Mutation	SNP	3 : 97669652 - 97669652 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	147	5
MUC6	4588	broad.mit.edu	37	11	1016412	1016414	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	GAG	GAG	-	-	GAG	GAG	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:1016412_1016414delGAG	ENST00000421673.2	-	31	6437_6439	c.6387_6389delCTC	c.(6385-6390)tcctca>tca	p.2129_2130SS>S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2129	Ser-rich.|Thr-rich.			S -> F (in Ref. 6; BAC04860).	maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.S2130delS(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGAGAAAATGAGGAGGACAGCT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Deletion - In frame(1)	stomach(1)								1,3949		0,1,1974	NA	NA	NA			2.9	0			96	0,8040		0,0,4020	no	coding	MUC6	NM_005961.2		0,1,5994	A1A1,A1R,RR	NA	0.0,0.0253,0.0083			NA	1,11989	NA	NA	NA	SO:0001651	inframe_deletion			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956	4588	4588		Mucins	7517	protein-coding gene	gene with protein product		158374	mucin 6, gastric		NA	7680650	Standard	XM_290540	NM_005961	NA	Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6387_6389delCTC	11.37:g.1016415_1016417delGAG	ENSP00000406861:p.Ser2130del	NA	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	37	CCDS44513.1																																																																																			MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382120.2		-	ENST00000421673.2	In_Frame_Del	DEL	11 : 1016412 - 1016414 - PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	207	57
MYO1F	4542	broad.mit.edu	37	19	8595429	8595429	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:8595429C>T	ENST00000338257.8	-	20	2339	c.2072G>A	c.(2071-2073)cGa>cAa	p.R691Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	691						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ATCGAACTTTCGCTCTCGCAC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	87	86			NA	NA	19		NA											NA				8595429		2007	4161	6168	SO:0001583	missense			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347	4542	4542		Myosins / Myosin superfamily : Class I	7600	protein-coding gene	gene with protein product		601480			NA	9119401, 8884266	Standard		NM_012335	NA	Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2072G>A	19.37:g.8595429C>T	ENSP00000344871:p.Arg691Gln	NA	Q8WWN7	37	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	36	5.683094	0.96774	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.95205	-3.64	5.36	5.36	0.76844	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.96259	0.8780	M	0.81942	2.565	0.80722	D	1	D	0.63880	0.993	P	0.54174	0.744	D	0.95729	0.8773	10	0.41790	T	0.15	.	18.1619	0.89710	0.0:1.0:0.0:0.0	.	691	O00160	MYO1F_HUMAN	Q	736;691	ENSP00000344871:R691Q	ENSP00000304899:R736Q	R	-	2	0	MYO1F	8501429	1.000000	0.71417	0.952000	0.39060	0.951000	0.60555	7.748000	0.85085	2.532000	0.85374	0.555000	0.69702	CGA	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342716.2		-	ENST00000338257.8	Missense_Mutation	SNP	19 : 8595429 - 8595429 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	264	8
NCAPD2	9918	broad.mit.edu	37	12	6631057	6631057	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:6631057C>T	ENST00000315579.5	+	15	2607	c.1808C>T	c.(1807-1809)tCg>tTg	p.S603L	NCAPD2_ENST00000545962.1_Missense_Mutation_p.S558L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	603	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCCAATATGTCGGATCCTGAG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	102	104			NA	NA	12		NA											NA				6631057		2203	4300	6503	SO:0001583	missense			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292	9918	9918			24305	protein-coding gene	gene with protein product	chromosome condensation related SMC associated protein 1	615638			NA	8590280, 10958694	Standard	NM_014865	NM_014865	NA	Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1808C>T	12.37:g.6631057C>T	ENSP00000325017:p.Ser603Leu	NA	D3DUR4|Q8N6U3	37	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	6.832	0.522777	0.13066	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.31769	2.49;1.48;2.22	4.69	0.379	0.16213	Armadillo-type fold (1);	0.958927	0.08648	N	0.914555	T	0.14917	0.0360	N	0.08118	0	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.001	B;B;B	0.06405	0.002;0.0;0.001	T	0.30179	-0.9987	10	0.29301	T	0.29	0.0031	7.6424	0.28300	0.1363:0.5837:0.0:0.28	.	558;564;603	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	L	603;475;558;475	ENSP00000325017:S603L;ENSP00000371895:S475L;ENSP00000444417:S558L	ENSP00000325017:S603L	S	+	2	0	NCAPD2	6501318	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.426000	0.07008	-0.050000	0.13356	-1.736000	0.00690	TCG	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399964.1		+	ENST00000315579.5	Missense_Mutation	SNP	12 : 6631057 - 6631057 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	151	5
NCKAP5L	57701	broad.mit.edu	37	12	50191075	50191075	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:50191075T>A	ENST00000335999.6	-	8	769	c.568A>T	c.(568-570)Att>Ttt	p.I190F		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	186	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ACCTCCAGAATCTGGGCCTTC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	28	27			NA	NA	12		NA											NA				50191075		1906	4117	6023	SO:0001583	missense			AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566	57701	57701			29321	protein-coding gene	gene with protein product		615104	KIAA1602	KIAA1602	NA		Standard	XM_035497	NM_001037806	NA	Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.568A>T	12.37:g.50191075T>A	ENSP00000337998:p.Ile190Phe	NA	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	37	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465970	0.84425	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.63913	-0.07	4.3	4.3	0.51218	.	.	.	.	.	T	0.71204	0.3312	L	0.42245	1.32	0.47153	D	0.999339	D	0.76494	0.999	D	0.87578	0.998	T	0.73372	-0.4003	9	0.59425	D	0.04	-4.9163	12.7587	0.57350	0.0:0.0:0.0:1.0	.	186	E2QRB5	.	F	190;186	ENSP00000337998:I190F	ENSP00000337998:I190F	I	-	1	0	NCKAP5L	48477342	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.480000	0.53172	1.717000	0.51406	0.379000	0.24179	ATT	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346884.2		-	ENST00000335999.6	Missense_Mutation	SNP	12 : 50191075 - 50191075 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	207	68
OR2Y1	134083	broad.mit.edu	37	5	180166545	180166545	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:180166545G>A	ENST00000307832.2	-	1	554	c.514C>T	c.(514-516)Cga>Tga	p.R172*		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGATTCAGTCGATGGCCACAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	stop/ARG	0,4406		0,0,2203	60	54	56		514	2.6	0	5		56	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	OR2Y1	NM_001001657.1		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		172/312	180166545	1,13005	2203	4300	6503	SO:0001587	stop_gained			AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339	134083	134083		GPCR / Class A : Olfactory receptors	14837	protein-coding gene	gene with protein product					NA		Standard	XM_068682	NM_001001657	NA	Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.514C>T	5.37:g.180166545G>A	ENSP00000312403:p.Arg172*	NA	B9EIP1|Q6IFB1|Q96R16	37	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	g	17.19	3.327676	0.60743	0.0	1.16E-4	ENSG00000174339	ENST00000307832	.	.	.	4.41	2.59	0.31030	.	3.529880	0.00714	N	0.000849	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0741	0.25195	0.0936:0.0:0.7351:0.1713	.	.	.	.	X	172	.	ENSP00000312403:R172X	R	-	1	2	OR2Y1	180099151	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.967000	0.01508	0.572000	0.29383	0.511000	0.50034	CGA	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368059.2		-	ENST00000307832.2	Nonsense_Mutation	SNP	5 : 180166545 - 180166545 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	236	81
OR5D13	390142	broad.mit.edu	37	11	55541761	55541761	+	Missense_Mutation	SNP	C	C	T	rs140938722	by1000genomes	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:55541761C>T	ENST00000361760.1	+	1	848	c.848C>T	c.(847-849)gCg>gTg	p.A283V		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TACACAGTGGCGATTCCAATG	0.363		NA											C	4	0.0018	NA	0.01	2184	0.0035	0.9995	,	,	NA	3e-04	NA	NA	NA	0.0016	0.9066	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0													79	66	70			NA	NA	11		NA											NA				55541761		2200	4296	6496	SO:0001583	missense			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877	390142	390142		GPCR / Class A : Olfactory receptors	15280	protein-coding gene	gene with protein product					NA		Standard	NM_001001967	NM_001001967	NA	Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.848C>T	11.37:g.55541761C>T	ENSP00000354800:p.Ala283Val	NA	Q6IF68|Q6IFC9	37	CCDS31507.1	4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	2	0.0034965034965034965	0	0.0	C	0	-2.801658	0.00075	.	.	ENSG00000198877	ENST00000361760	T	0.00013	9.25	3.68	1.18	0.20946	GPCR, rhodopsin-like superfamily (1);	0.960258	0.08414	N	0.949423	T	0.00012	0.0000	N	0.00006	-3.225	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.49588	-0.8924	10	0.02654	T	1	-3.3382	3.6909	0.08346	0.1898:0.1116:0.0:0.6986	.	283	Q8NGL4	OR5DD_HUMAN	V	283	ENSP00000354800:A283V	ENSP00000354800:A283V	A	+	2	0	OR5D13	55298337	0.002000	0.14202	0.022000	0.16811	0.001000	0.01503	1.319000	0.33655	0.020000	0.15106	-1.495000	0.00966	GCG	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391511.1		+	ENST00000361760.1	Missense_Mutation	SNP	11 : 55541761 - 55541761 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	424	147
OR5H1	26341	broad.mit.edu	37	3	97851871	97851871	+	Silent	SNP	G	G	A	rs113686881		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:97851871G>A	ENST00000354565.2	+	1	330	c.330G>A	c.(328-330)acG>acA	p.T110T	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GTGTAACCACGGAATGTTTTC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	171	173			NA	NA	3		NA											NA				97851871		2202	4299	6501	SO:0001819	synonymous_variant			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192	26341	26341		GPCR / Class A : Olfactory receptors	8346	protein-coding gene	gene with protein product					NA	1370859	Standard	NM_001005338	NM_001005338	NA	Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.330G>A	3.37:g.97851871G>A		NA		37	CCDS33797.1																																																																																			OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359100.2		+	ENST00000354565.2	Silent	SNP	3 : 97851871 - 97851871 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	1057	404
PAMR1	25891	broad.mit.edu	37	11	35513689	35513689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:35513689G>A	ENST00000378880.2	-	3	728	c.283C>T	c.(283-285)Cga>Tga	p.R95*	PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Nonsense_Mutation_p.R95*|PAMR1_ENST00000532848.1_Nonsense_Mutation_p.R55*|PAMR1_ENST00000278360.3_Nonsense_Mutation_p.R95*	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	95					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GAGCCATTTCGGCAGCTCTTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	stop/ARG,stop/ARG	1,4403	2.1+/-5.4	0,1,2201	183	179	181		283,283	3.1	1	11		181	0,8596		0,0,4298	no	stop-gained,stop-gained	PAMR1	NM_001001991.1,NM_015430.2	,	0,1,6499	AA,AG,GG	NA	0.0,0.0227,0.0077	,	95/721,95/738	35513689	1,12999	2202	4298	6500	SO:0001587	stop_gained				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090	25891	25891			24554	protein-coding gene	gene with protein product	regeneration-associated muscle protease				NA	15111323	Standard	NM_015430	NM_001282675	NA	Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.283C>T	11.37:g.35513689G>A	ENSP00000368158:p.Arg95*	NA	Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	37	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	41	9.063677	0.99053	2.27E-4	0.0	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605;ENST00000529303	.	.	.	5.05	3.08	0.35506	.	0.459441	0.22469	N	0.059650	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.6536	0.56776	0.0:0.0:0.5742:0.4258	.	.	.	.	X	95;95;95;55;55;95	.	ENSP00000278360:R95X	R	-	1	2	PAMR1	35470265	1.000000	0.71417	0.978000	0.43139	0.911000	0.54048	3.430000	0.52807	0.471000	0.27319	0.491000	0.48974	CGA	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389177.1		-	ENST00000378880.2	Nonsense_Mutation	SNP	11 : 35513689 - 35513689 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	1246	351
PCDHGA5	56110	broad.mit.edu	37	5	140745619	140745619	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:140745619C>T	ENST00000518069.1	+	1	1722	c.1722C>T	c.(1720-1722)ggC>ggT	p.G574G	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			protocadherin gamma subfamily A, 5	NA										endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCCACGGGCGTGGAGCTGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	123	119			NA	NA	5		NA											NA				140745619		2203	4300	6503	SO:0001819	synonymous_variant			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485	56110	56110		Cadherins / Protocadherins : Clustered	8703	other	protocadherin	cadherin ME3	606292			NA	10380929	Standard	NM_018918	NM_018918	NA	Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1722C>T	5.37:g.140745619C>T		NA		37	CCDS54925.1																																																																																			PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374742.1		+	ENST00000518069.1	Silent	SNP	5 : 140745619 - 140745619 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	1018	338
PDCD2L	84306	broad.mit.edu	37	19	34912428	34912428	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:34912428T>C	ENST00000246535.3	+	6	849	c.802T>C	c.(802-804)Tcc>Ccc	p.S268P	PDCD2L_ENST00000587065.2_5'UTR	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	268						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCCTAGGTATTCCTGGAGTGG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	213	208			NA	NA	19		NA											NA				34912428		2203	4300	6503	SO:0001583	missense			BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249	84306	84306			28194	protein-coding gene	gene with protein product		615661			NA	16311922	Standard	NM_032346	NM_032346	NA	Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.802T>C	19.37:g.34912428T>C	ENSP00000246535:p.Ser268Pro	NA		37	CCDS12438.1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.486734	0.63962	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.98	4.94	0.65067	Programmed cell death protein 2, C-terminal (1);	0.144113	0.64402	D	0.000004	T	0.81451	0.4825	M	0.91196	3.185	0.41755	D	0.989686	D	0.76494	0.999	D	0.73708	0.981	D	0.83431	0.0038	9	0.48119	T	0.1	-15.8635	11.5108	0.50492	0.1347:0.0:0.0:0.8653	.	268	Q9BRP1	PDD2L_HUMAN	P	268	.	ENSP00000246535:S268P	S	+	1	0	PDCD2L	39604268	1.000000	0.71417	0.999000	0.59377	0.749000	0.42624	3.088000	0.50175	1.048000	0.40298	0.477000	0.44152	TCC	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459251.3		+	ENST00000246535.3	Missense_Mutation	SNP	19 : 34912428 - 34912428 C PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	1343	407
PEX16	9409	broad.mit.edu	37	11	45936217	45936217	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:45936217C>T	ENST00000532681.1	-	6	1057	c.194G>A	c.(193-195)gGc>gAc	p.G65D	PEX16_ENST00000378750.5_Missense_Mutation_p.G160D|PEX16_ENST00000241041.3_Missense_Mutation_p.G160D|PEX16_ENST00000532554.1_5'UTR			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	160					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CTCATGGTTGCCAGGGCTGTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	132	141			NA	NA	11		NA											NA				45936217		2203	4299	6502	SO:0001583	missense			AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680	9409	9409			8857	protein-coding gene	gene with protein product		603360			NA	9922452	Standard	NM_057174	NM_057174	NA	Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000532681.1:c.194G>A	11.37:g.45936217C>T	ENSP00000434654:p.Gly65Asp	NA	Q9BWB9	37		.	.	.	.	.	.	.	.	.	.	C	3.698	-0.062097	0.07317	.	.	ENSG00000121680	ENST00000241041;ENST00000378750;ENST00000532681;ENST00000533151;ENST00000525192	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.85	4.0	0.46444	.	0.670270	0.16493	N	0.212040	T	0.13756	0.0333	L	0.31294	0.92	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.12156	0.007;0.004	T	0.32161	-0.9917	10	0.15952	T	0.53	-5.9846	8.1875	0.31348	0.0:0.7141:0.139:0.1469	.	160;160	Q9Y5Y5;Q9Y5Y5-2	PEX16_HUMAN;.	D	160;160;65;56;65	ENSP00000241041:G160D;ENSP00000368024:G160D;ENSP00000434654:G65D;ENSP00000433045:G56D;ENSP00000431309:G65D	ENSP00000241041:G160D	G	-	2	0	PEX16	45892793	0.123000	0.22298	0.047000	0.18901	0.134000	0.20937	0.876000	0.28092	0.827000	0.34685	-0.291000	0.09656	GGC	PEX16-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000392399.1		-	ENST00000532681.1	Missense_Mutation	SNP	11 : 45936217 - 45936217 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	374	134
PHF1	5252	broad.mit.edu	37	6	33382134	33382134	+	Silent	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:33382134C>A	ENST00000374516.3	+	9	1138	c.867C>A	c.(865-867)ctC>ctA	p.L289L	PHF1_ENST00000374512.3_Silent_p.L289L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	289					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				ACAGTTTGCTCCTGGGGGAGG	0.498		NA									OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	99	98			NA	NA	6		NA											NA				33382134		2203	4300	6503	SO:0001819	synonymous_variant			AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511	5252	5252		Tudor domain containing, Zinc fingers, PHD-type	8919	protein-coding gene	gene with protein product	tudor domain containing 19C	602881			NA	9545646, 18385154	Standard		NM_024165	NA	Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.867C>A	6.37:g.33382134C>A		839	B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	37	CCDS4777.1																																																																																			PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076175.3		+	ENST00000374516.3	Silent	SNP	6 : 33382134 - 33382134 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	442	152
PIK3CA	5290	broad.mit.edu	37	3	178936074	178936074	+	Missense_Mutation	SNP	C	C	G	rs121913285		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:178936074C>G	ENST00000263967.3	+	10	1773	c.1616C>G	c.(1615-1617)cCt>cGt	p.P539R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	539	PI3K helical.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.P539R(17)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACACGAGATCCTCTCTCTGAA	0.328	P539R(BT20_BREAST)|P539R(MFE296_ENDOMETRIUM)	57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	phosphoinositide-3-kinase, catalytic, alpha polypeptide		E, O	17	Substitution - Missense(17)	breast(12)|thyroid(1)|large_intestine(1)|central_nervous_system(1)|endometrium(1)|lung(1)											53	53	53			NA	NA	3		NA											NA				178936074		1806	4068	5874	SO:0001583	missense				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	5290	5290	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	phosphoinositide-3-kinase, catalytic, alpha polypeptide		NA	1322797	Standard		NM_006218	NA	Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1616C>G	3.37:g.178936074C>G	ENSP00000263967:p.Pro539Arg	NA	Q14CW1|Q99762	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987372	0.93106	.	.	ENSG00000121879	ENST00000263967	D	0.89270	-2.49	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94466	0.8219	M	0.80332	2.49	0.80722	D	1	D	0.59357	0.985	D	0.63192	0.912	D	0.94197	0.7446	10	0.59425	D	0.04	-26.0829	20.0024	0.97423	0.0:1.0:0.0:0.0	.	539	P42336	PK3CA_HUMAN	R	539	ENSP00000263967:P539R	ENSP00000263967:P539R	P	+	2	0	PIK3CA	180418768	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.487000	0.81328	2.722000	0.93159	0.467000	0.42956	CCT	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348409.2		+	ENST00000263967.3	Missense_Mutation	SNP	3 : 178936074 - 178936074 G PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	409	108
PMEPA1	56937	broad.mit.edu	37	20	56227349	56227349	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:56227349delG	ENST00000341744.3	-	4	943	c.624delC	c.(622-624)cccfs	p.P208fs	PMEPA1_ENST00000395814.1_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000347215.4_Frame_Shift_Del_p.P173fs|PMEPA1_ENST00000265626.4_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000395816.3_Frame_Shift_Del_p.P158fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	208					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						AGTTACTGCTGGGGGGGCAGG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	33	31			NA	NA	20		NA											NA				56227349		2203	4298	6501	SO:0001589	frameshift_variant			AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225	56937	56937			14107	protein-coding gene	gene with protein product	solid tumor-associated 1	606564	transmembrane, prostate androgen induced RNA	TMEPAI	NA	10873380	Standard	NM_020182	NM_020182	NA	Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.624delC	20.37:g.56227349delG	ENSP00000345826:p.Pro208fs	NA	Q5TDR6|Q96B72|Q9UJD3	37	CCDS13463.1																																																																																			PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079858.2		-	ENST00000341744.3	Frame_Shift_Del	DEL	20 : 56227349 - 56227349 - PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	290	76
PPM1G	5496	broad.mit.edu	37	2	27607706	27607706	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:27607706C>T	ENST00000344034.4	-	5	923	c.659G>A	c.(658-660)cGt>cAt	p.R220H	PPM1G_ENST00000350803.4_Missense_Mutation_p.R220H	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	220					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CTCAGTCCCACGTTCCGAGTT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	117	123			NA	NA	2		NA											NA				27607706		2203	4300	6503	SO:0001583	missense			Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	5496	5496	3.1.3.16	Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent	9278	protein-coding gene	gene with protein product	PP2C, gamma, protein phosphatase 2C, gamma isoform	605119	protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform		NA	9276438	Standard	NM_002707	NM_177983	NA	Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.659G>A	2.37:g.27607706C>T	ENSP00000342778:p.Arg220His	NA		37	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335465	0.24253	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412	T;T	0.44083	0.93;0.93	5.75	2.95	0.34219	Protein phosphatase 2C-like (3);	0.608394	0.16245	N	0.222966	T	0.27663	0.0680	L	0.36672	1.1	0.27600	N	0.948996	B	0.02656	0.0	B	0.01281	0.0	T	0.21245	-1.0251	10	0.21014	T	0.42	0.2289	5.1636	0.15073	0.0:0.5481:0.1408:0.3111	.	220	O15355	PPM1G_HUMAN	H	220;220;203	ENSP00000342778:R220H;ENSP00000264714:R220H	ENSP00000342778:R220H	R	-	2	0	PPM1G	27461210	0.997000	0.39634	0.997000	0.53966	0.986000	0.74619	1.019000	0.30014	0.348000	0.23949	0.655000	0.94253	CGT	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215032.1		-	ENST00000344034.4	Missense_Mutation	SNP	2 : 27607706 - 27607706 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	432	18
PPWD1	23398	broad.mit.edu	37	5	64868000	64868000	+	Missense_Mutation	SNP	G	G	A	rs150307628		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:64868000G>A	ENST00000261308.5	+	5	928	c.856G>A	c.(856-858)Gta>Ata	p.V286I	PPWD1_ENST00000538977.1_Missense_Mutation_p.V130I|PPWD1_ENST00000535264.1_Missense_Mutation_p.V256I	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	286					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TCCAACCAGCGTATGTTTTTC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	ILE/VAL	1,4405	798.9+/-415.5	0,1,2202	65	71	69		856	5.6	1	5	dbSNP_134	69	3,8597	814.0+/-407.0	0,3,4297	yes	missense	PPWD1	NM_015342.2	29	0,4,6499	AA,AG,GG	NA	0.0349,0.0227,0.0308	benign	286/647	64868000	4,13002	2203	4300	6503	SO:0001583	missense			AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593	23398	23398		WD repeat domain containing	28954	protein-coding gene	gene with protein product					NA	7584044	Standard	NM_015342	NM_015342	NA	Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.856G>A	5.37:g.64868000G>A	ENSP00000261308:p.Val286Ile	NA	Q15002|Q7KZ89	37	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	A	8.826	0.938643	0.18206	2.27E-4	3.49E-4	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977;ENST00000505380	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.098404	0.64402	N	0.000003	T	0.44095	0.1277	L	0.38838	1.175	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.28808	-1.0032	10	0.09338	T	0.73	.	11.6254	0.51142	0.9304:0.0:0.0695:0.0	.	256;286	F5H7P7;Q96BP3	.;PPWD1_HUMAN	I	286;256;130;205	ENSP00000261308:V286I;ENSP00000442371:V256I;ENSP00000444496:V130I;ENSP00000423234:V205I	ENSP00000261308:V286I	V	+	1	0	PPWD1	64903756	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.661000	0.61518	0.955000	0.37878	-0.361000	0.07541	GTA	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253970.2		+	ENST00000261308.5	Missense_Mutation	SNP	5 : 64868000 - 64868000 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	480	170
PRADC1	84279	broad.mit.edu	37	2	73457283	73457283	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:73457283G>A	ENST00000258083.2	-	2	193	c.126C>T	c.(124-126)taC>taT	p.Y42Y	PRADC1_ENST00000480093.1_5'UTR	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	42						extracellular region				endometrium(1)|large_intestine(1)|lung(2)	4						CTGTGAAGATGTATCGAATGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	74	76			NA	NA	2		NA											NA				73457283		2203	4300	6503	SO:0001819	synonymous_variant			BC005069	CCDS1924.1	2p13.2	2012-10-31	2011-04-15	2011-04-15	ENSG00000135617	ENSG00000135617	84279	84279			16047	protein-coding gene	gene with protein product	protease-associated domain-containing glycoprotein 21 kDa		chromosome 2 open reading frame 7	C2orf7	NA	15498570	Standard	NM_032319	NM_032319	NA	Approved	MGC13004, PAP21, hPAP21	uc002siy.3	Q9BSG0	OTTHUMG00000129773	ENST00000258083.2:c.126C>T	2.37:g.73457283G>A		NA		37	CCDS1924.1																																																																																			PRADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251989.1		-	ENST00000258083.2	Silent	SNP	2 : 73457283 - 73457283 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	291	72
RAB40B	10966	broad.mit.edu	37	17	80616499	80616499	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:80616499C>T	ENST00000269347.6	-	0	988				RAB40B_ENST00000571995.1_Missense_Mutation_p.A145T|RAB40B_ENST00000538809.2_Intron			Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	NA					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			AGGCGCTCGGCGTAGGCCTGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	40	40			NA	NA	17		NA											NA				80616499		2203	4300	6503	SO:0001623	5_prime_UTR_variant			U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542	10966	10966		RAB, member RAS oncogene	18284	protein-coding gene	gene with protein product					NA	11697911	Standard		NM_006822	NA	Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000269347.6:c.-105G>A	17.37:g.80616499C>T		NA	Q8WVG3	37		.	.	.	.	.	.	.	.	.	.	C	34	5.306869	0.95629	.	.	ENSG00000141542	ENST00000269347;ENST00000538809	.	.	.	3.84	3.84	0.44239	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000008	D	0.84804	0.5553	M	0.93678	3.445	0.80722	D	1	D	0.71674	0.998	D	0.63597	0.916	D	0.89908	0.4049	9	0.87932	D	0	.	16.2189	0.82244	0.0:1.0:0.0:0.0	.	145	Q12829	RB40B_HUMAN	T	145;179	.	ENSP00000269347:A145T	A	-	1	0	RAB40B	78209788	1.000000	0.71417	0.792000	0.32020	0.907000	0.53573	5.860000	0.69546	2.082000	0.62665	0.591000	0.81541	GCC	RAB40B-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000439009.1		-	ENST00000269347.6	5'UTR	SNP	17 : 80616499 - 80616499 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	162	80
RASAL3	64926	broad.mit.edu	37	19	15567402	15567402	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:15567402G>A	ENST00000343625.7	-	10	1572	c.1487C>T	c.(1486-1488)gCg>gTg	p.A496V		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	NA	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GAACAGCAGCGCCTCACGGCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	72	70			NA	NA	19		NA											NA				15567402		2182	4278	6460	SO:0001583	missense				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122	64926	64926			26129	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_022904	NM_022904	NA	Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.1487C>T	19.37:g.15567402G>A	ENSP00000341905:p.Ala496Val	NA	Q8N2T9|Q9H735	37	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	g	19.47	3.834497	0.71373	.	.	ENSG00000105122	ENST00000343625	T	0.79554	-1.28	4.37	4.37	0.52481	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.212338	0.22735	U	0.056263	T	0.82098	0.4963	L	0.49350	1.555	0.38814	D	0.955492	D	0.56968	0.978	P	0.54312	0.748	T	0.80476	-0.1366	10	0.23302	T	0.38	.	14.8191	0.70059	0.0:0.0:1.0:0.0	.	496	Q86YV0	RASL3_HUMAN	V	496	ENSP00000341905:A496V	ENSP00000341905:A496V	A	-	2	0	RASAL3	15428402	0.007000	0.16637	1.000000	0.80357	0.994000	0.84299	1.074000	0.30703	2.158000	0.67659	0.558000	0.71614	GCG	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461331.3		-	ENST00000343625.7	Missense_Mutation	SNP	19 : 15567402 - 15567402 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	171	49
RNF43	54894	broad.mit.edu	37	17	56492899	56492899	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:56492899G>A	ENST00000584437.1	-	1	1995	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	RNF43_ENST00000583753.1_Missense_Mutation_p.P14S|RNF43_ENST00000500597.2_Missense_Mutation_p.P14S|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Missense_Mutation_p.P14S|RNF43_ENST00000407977.2_Missense_Mutation_p.P14S|RNF43_ENST00000581868.1_Intron			Q68DV7	RNF43_HUMAN	ring finger protein 43	14						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCAGCCAGGGCCAGAGGGCA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	31	32			NA	NA	17		NA											NA				56492899		2200	4293	6493	SO:0001583	missense				CCDS11607.1	17q23.2	2013-01-09					54894	54894		RING-type (C3HC4) zinc fingers	18505	protein-coding gene	gene with protein product		612482			NA		Standard	NM_017763	NM_017763	NA	Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.40C>T	17.37:g.56492899G>A	ENSP00000463069:p.Pro14Ser	NA	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492626	0.84962	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.23950	2.6;1.88	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000008	T	0.37237	0.0996	N	0.14661	0.345	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.32798	-0.9893	10	0.62326	D	0.03	-25.2822	19.1688	0.93569	0.0:0.0:1.0:0.0	.	14;14	Q68DV7-2;Q68DV7	.;RNF43_HUMAN	S	14	ENSP00000385328:P14S;ENSP00000441969:P14S	ENSP00000385328:P14S	P	-	1	0	RNF43	53847898	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.758000	0.91663	2.840000	0.97914	0.655000	0.94253	CCC	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444713.1		-	ENST00000584437.1	Missense_Mutation	SNP	17 : 56492899 - 56492899 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	178	51
RNF43	54894	broad.mit.edu	37	17	56492904	56492908	+	Frame_Shift_Del	DEL	AGGGC	AGGGC	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	AGGGC	AGGGC	-	-	AGGGC	AGGGC	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:56492904_56492908delAGGGC	ENST00000584437.1	-	1	1986_1990	c.31_35delGCCCT	c.(31-36)gccctcfs	p.AL11fs	RNF43_ENST00000583753.1_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.AL11fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000581868.1_Intron			Q68DV7	RNF43_HUMAN	ring finger protein 43	11						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGGGCCAGAGGGCAGCCAGCTGC	0.556		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant				CCDS11607.1	17q23.2	2013-01-09					54894	54894		RING-type (C3HC4) zinc fingers	18505	protein-coding gene	gene with protein product		612482			NA		Standard	NM_017763	NM_017763	NA	Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.31_35delGCCCT	17.37:g.56492904_56492908delAGGGC	ENSP00000463069:p.Ala11fs	NA	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	37	CCDS11607.1																																																																																			RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444713.1		-	ENST00000584437.1	Frame_Shift_Del	DEL	17 : 56492904 - 56492908 - PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	175	42
SBK2	646643	broad.mit.edu	37	19	56042597	56042597	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:56042597G>A	ENST00000413299.1	-	3	406	c.369C>T	c.(367-369)taC>taT	p.Y123Y	SBK2_ENST00000344158.3_Silent_p.Y123Y	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	123	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						TGCCAATGCCGTAGGCCGTCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	55	52			NA	NA	19		NA											NA				56042597		2165	4254	6419	SO:0001819	synonymous_variant				CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550	646643	646643			34416	protein-coding gene	gene with protein product			SH3-binding domain kinase family, member 2		NA		Standard	NM_001101401	NM_001101401	NA	Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.369C>T	19.37:g.56042597G>A		NA		37	CCDS42631.1																																																																																			SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341919.1		-	ENST00000413299.1	Silent	SNP	19 : 56042597 - 56042597 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	219	62
SGCD	6444	broad.mit.edu	37	5	155771526	155771526	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:155771526C>T	ENST00000435422.3	+	2	515	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	SGCD_ENST00000337851.4_Missense_Mutation_p.R11W|SGCD_ENST00000517913.1_Missense_Mutation_p.R11W|SGCD_ENST00000447401.1_Missense_Mutation_p.R11W	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	10					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTCACCACCGGAGCACCAT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	109	109			NA	NA	5		NA											NA				155771526		1950	4166	6116	SO:0001583	missense			BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29				6444	6444			10807	protein-coding gene	gene with protein product		601411	sarcoglycan, delta (35kD dystrophin-associated glycoprotein)		NA	8776597, 8841194, 10974018	Standard		NM_000337	NA	Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.28C>T	5.37:g.155771526C>T	ENSP00000403003:p.Arg10Trp	NA	A8K9S9|Q53XA5|Q99644	37	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212095	0.79240	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	T;D;D;T	0.86694	1.41;-2.15;-2.16;1.41	5.59	2.34	0.29019	.	0.051785	0.64402	D	0.000001	D	0.91297	0.7256	L	0.60455	1.87	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.996;0.999	D	0.91387	0.5132	10	0.72032	D	0.01	0.2039	14.2572	0.66060	0.5847:0.4153:0.0:0.0	.	10;11;11	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	W	11;10;11;11	ENSP00000429378:R11W;ENSP00000403003:R10W;ENSP00000338343:R11W;ENSP00000408324:R11W	ENSP00000338343:R11W	R	+	1	2	SGCD	155704104	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.486000	0.35530	0.624000	0.30286	0.655000	0.94253	CGG	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373469.3		+	ENST00000435422.3	Missense_Mutation	SNP	5 : 155771526 - 155771526 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	385	100
SRFBP1	153443	broad.mit.edu	37	5	121362757	121362757	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:121362757G>A	ENST00000339397.4	+	8	1298	c.1226G>A	c.(1225-1227)aGg>aAg	p.R409K	SRFBP1_ENST00000504881.1_Intron	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		GCAAGCAGAAGGCGAAAAGAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	45	46			NA	NA	5		NA											NA				121362757		1835	4088	5923	SO:0001583	missense			AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304	153443	153443			26333	protein-coding gene	gene with protein product	BUD22 homolog (S. cerevisiae)	610479			NA	15492011	Standard	NM_152546	NM_152546	NA	Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.1226G>A	5.37:g.121362757G>A	ENSP00000341324:p.Arg409Lys	NA	Q5QFI2|Q96AH4|Q96DK2	37	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569176	0.28003	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.76	-0.243	0.13035	Bud-site selection protein, BUD22 (1);	0.337294	0.36303	N	0.002678	T	0.30479	0.0766	N	0.16368	0.405	0.34634	D	0.719936	B	0.17038	0.02	B	0.17433	0.018	T	0.29366	-1.0014	9	0.13853	T	0.58	-6.0429	11.318	0.49403	0.5482:0.0:0.4518:0.0	.	409	Q8NEF9	SRFB1_HUMAN	K	409	.	ENSP00000341324:R409K	R	+	2	0	SRFBP1	121390656	1.000000	0.71417	0.984000	0.44739	0.962000	0.63368	1.433000	0.34947	0.003000	0.14656	0.655000	0.94253	AGG	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371200.1		+	ENST00000339397.4	Missense_Mutation	SNP	5 : 121362757 - 121362757 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	422	149
TNPO1	3842	broad.mit.edu	37	5	72195908	72195908	+	Splice_Site	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:72195908G>A	ENST00000337273.5	+	21	2840	c.2414G>A	c.(2413-2415)tGg>tAg	p.W805*	TNPO1_ENST00000454282.1_Splice_Site_p.W755*|TNPO1_ENST00000506351.2_Splice_Site_p.W797*|TNPO1_ENST00000523768.1_Splice_Site_p.W755*	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	805					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.W797*(1)|p.W797L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ATAAGACCCTGGTGTGTATTA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Nonsense(1)|Substitution - Missense(1)	urinary_tract(1)|kidney(1)											180	167	171			NA	NA	5		NA											NA				72195908		2203	4300	6503	SO:0001630	splice_region_variant			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312	3842	3842		Importins	6401	protein-coding gene	gene with protein product	importin 2	602901	karyopherin (importin) beta 2	KPNB2	NA	8808633, 9144189	Standard	NM_002270	NM_153188	NA	Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2414+1G>A	5.37:g.72195908G>A		NA	B4DVC6|Q92957|Q92975	37	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	G	38	6.879768	0.97904	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5419	19.1767	0.93605	0.0:0.0:1.0:0.0	.	.	.	.	X	805;755;755;797;316	.	ENSP00000336712:W805X	W	+	2	0	TNPO1	72231664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.619000	0.88677	0.467000	0.42956	TGG	TNPO1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218577.3	Nonsense_Mutation	+	ENST00000337273.5	Splice_Site	SNP	5 : 72195908 - 72195908 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	598	186
TONSL	4796	broad.mit.edu	37	8	145660399	145660399	+	Splice_Site	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:145660399C>T	ENST00000409379.3	-	19	3036		c.e19+1			NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	NA					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CTGCGGCTCACCTCGTCATTG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	24	23			NA	NA	8		NA											NA				145660399		2200	4299	6499	SO:0001630	splice_region_variant				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949	4796	4796		Ankyrin repeat domain containing	7801	protein-coding gene	gene with protein product		604546	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2	NFKBIL2	NA	7738005, 11246458	Standard	NM_013432	NM_013432	NA	Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3006+1G>A	8.37:g.145660399C>T		NA	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	37	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774814	0.49786	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3613	0.74478	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TONSL	145631207	1.000000	0.71417	0.965000	0.40720	0.431000	0.31685	7.097000	0.76967	2.218000	0.71995	0.491000	0.48974	.	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329668.2	Intron	-	ENST00000409379.3	Splice_Site	SNP	8 : 145660399 - 145660399 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	140	40
TOP2B	7155	broad.mit.edu	37	3	25674236	25674236	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:25674236A>G	ENST00000435706.2	-	9	1262	c.1061T>C	c.(1060-1062)aTt>aCt	p.I354T	TOP2B_ENST00000264331.4_Missense_Mutation_p.I359T			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	359					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						AACTACTTCAATCAGTTTACC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	152	153			NA	NA	3		NA											NA				25674236		1859	4094	5953	SO:0001583	missense			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	7155	7155	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	topoisomerase (DNA) II beta (180kD)		NA	1309226, 1333583	Standard		NM_001068	NA	Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000435706.2:c.1061T>C	3.37:g.25674236A>G	ENSP00000396704:p.Ile354Thr	NA	Q13600|Q9UMG8|Q9UQP8	37	CCDS46776.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.408676	0.62399	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.46063	0.88;0.88	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	L	0.53561	1.675	0.80722	D	1	B	0.25048	0.117	B	0.29440	0.102	T	0.37337	-0.9710	10	0.54805	T	0.06	-15.1386	15.4062	0.74881	1.0:0.0:0.0:0.0	.	354	Q02880-2	.	T	354;359;354	ENSP00000396704:I354T;ENSP00000264331:I359T	ENSP00000264331:I359T	I	-	2	0	TOP2B	25649240	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.059000	0.93902	2.032000	0.59987	0.528000	0.53228	ATT	TOP2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340821.1		-	ENST00000435706.2	Missense_Mutation	SNP	3 : 25674236 - 25674236 G PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	269	5
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50			NA	NA	17		NA											NA				7578406		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.524G>A	17.37:g.7578406C>T	ENSP00000391127:p.Arg175His	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7578406 - 7578406 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	352	159
TRIB2	28951	broad.mit.edu	37	2	12858610	12858610	+	Silent	SNP	T	T	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:12858610T>G	ENST00000405331.3	+	1	247	c.177T>G	c.(175-177)tcT>tcG	p.S59S	TRIB2_ENST00000155926.4_Silent_p.S59S|TRIB2_ENST00000381465.2_Intron			Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	59					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATTGCGTTTCTTGTATCGGGA	0.567		NA									OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	82	80			NA	NA	2		NA											NA				12858610		2203	4300	6503	SO:0001819	synonymous_variant			AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575	28951	28951			30809	protein-coding gene	gene with protein product		609462	tribbles homolog 2 (Drosophila)		NA	12736262, 17097562, 16715410	Standard	NM_021643	NM_021643	NA	Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.177T>G	2.37:g.12858610T>G		683	B2R851|D6W510	37																																																																																				TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000323585.1		+	ENST00000405331.3	Silent	SNP	2 : 12858610 - 12858610 G PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	588	169
TRIOBP	11078	broad.mit.edu	37	22	38165362	38165362	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:38165362C>T	ENST00000406386.3	+	21	7084	c.6829C>T	c.(6829-6831)Cgg>Tgg	p.R2277W	TRIOBP_ENST00000403663.2_Missense_Mutation_p.R564W	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2277					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAGCAACGAGCGGAGTTCCTG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	17	16			NA	NA	22		NA											NA				38165362		1982	4164	6146	SO:0001583	missense			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106	11078	11078		Pleckstrin homology (PH) domain containing	17009	protein-coding gene	gene with protein product		609761		DFNB28	NA	11148140, 16385457, 16385458	Standard		NM_001039141	NA	Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6829C>T	22.37:g.38165362C>T	ENSP00000384312:p.Arg2277Trp	NA	B1AHD4|B1AHD7|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193152	0.58017	.	.	ENSG00000100106	ENST00000406386;ENST00000403663	T	0.23950	1.88	4.96	0.994	0.19832	.	.	.	.	.	T	0.44265	0.1285	L	0.53249	1.67	0.44711	D	0.997706	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.993;0.971;0.989;0.976	T	0.48305	-0.9047	9	0.87932	D	0	.	14.7584	0.69588	0.5226:0.4774:0.0:0.0	.	2179;266;564;2277	Q9H2D6-2;Q8TCM3;F8W6V6;Q9H2D6	.;.;.;TARA_HUMAN	W	2277;564	ENSP00000384312:R2277W	ENSP00000386026:R564W	R	+	1	2	TRIOBP	36495308	1.000000	0.71417	0.989000	0.46669	0.459000	0.32528	0.925000	0.28791	0.428000	0.26173	0.462000	0.41574	CGG	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319439.2		+	ENST00000406386.3	Missense_Mutation	SNP	22 : 38165362 - 38165362 T PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	72	11
TSHZ2	128553	broad.mit.edu	37	20	51871827	51871827	+	Silent	SNP	G	G	A	rs147016688	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:51871827G>A	ENST00000371497.5	+	2	2717	c.1830G>A	c.(1828-1830)gcG>gcA	p.A610A	TSHZ2_ENST00000603338.2_Silent_p.A607A|TSHZ2_ENST00000329613.6_Silent_p.A607A	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	610					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A610A(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAGATGAAGCGGTGAAGGAGT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											92	93	93			NA	NA	20		NA											NA				51871827		2203	4300	6503	SO:0001819	synonymous_variant			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463	128553	128553		Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type	13010	protein-coding gene	gene with protein product		614118	chromosome 20 open reading frame 17, zinc finger protein 218, teashirt family zinc finger 2	C20orf17, ZNF218	NA	9671742	Standard	NM_173485	NM_173485	NA	Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1830G>A	20.37:g.51871827G>A		NA	Q4VXM4|Q6N003|Q8N260	37	CCDS33490.1																																																																																			TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080398.6		+	ENST00000371497.5	Silent	SNP	20 : 51871827 - 51871827 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	592	150
UXS1	80146	broad.mit.edu	37	2	106710580	106710580	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:106710580G>A	ENST00000283148.7	-	15	1277	c.1180C>T	c.(1180-1182)Cac>Tac	p.H394Y	UXS1_ENST00000540130.1_Missense_Mutation_p.H332Y|UXS1_ENST00000409501.3_Missense_Mutation_p.H389Y|UXS1_ENST00000409032.1_Missense_Mutation_p.H221Y	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	389					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CGGAAGTAGTGAATTGCTTTG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													219	208	212			NA	NA	2		NA											NA				106710580		1960	4143	6103	SO:0001583	missense			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	80146	80146	4.1.1.35	Short chain dehydrogenase/reductase superfamily / Extended SDR fold	17729	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 6E, member 12	609749			NA	19027726	Standard	NM_025076.3	NM_001253875	NA	Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000283148.7:c.1180C>T	2.37:g.106710580G>A	ENSP00000283148:p.His394Tyr	NA	Q8NBX3|Q9H5C2	37	CCDS58721.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287260	0.59867	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.68	5.68	0.88126	.	0.046027	0.85682	D	0.000000	T	0.54647	0.1871	L	0.43923	1.385	0.80722	D	1	B;B;B	0.19817	0.039;0.023;0.023	B;B;B	0.14578	0.011;0.005;0.008	T	0.51748	-0.8666	10	0.72032	D	0.01	-10.5314	19.7704	0.96361	0.0:0.0:1.0:0.0	.	394;389;394	Q8NBZ7-2;Q8NBZ7;A8K3Q3	.;UXS1_HUMAN;.	Y	394;332;389;221	ENSP00000283148:H394Y;ENSP00000438265:H332Y;ENSP00000387019:H389Y;ENSP00000387096:H221Y	ENSP00000283148:H394Y	H	-	1	0	UXS1	106077012	1.000000	0.71417	0.981000	0.43875	0.998000	0.95712	9.266000	0.95659	2.670000	0.90874	0.563000	0.77884	CAC	UXS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329776.1		-	ENST00000283148.7	Missense_Mutation	SNP	2 : 106710580 - 106710580 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	311	81
ZNF3	7551	broad.mit.edu	37	7	99669508	99669508	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:99669508T>C	ENST00000424697.1	-	6	905	c.599A>G	c.(598-600)cAt>cGt	p.H200R	ZNF3_ENST00000303915.6_Missense_Mutation_p.H200R|ZNF3_ENST00000299667.4_Missense_Mutation_p.H200R|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	200					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			ATCACACTTATGGGGTCTGTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	93	91			NA	NA	7		NA											NA				99669508		2146	4274	6420	SO:0001583	missense			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05				7551	7551		Zinc fingers, C2H2-type, -	13089	protein-coding gene	gene with protein product		194510	zinc finger protein 3 (A8-51)		NA		Standard	NM_017715	NM_032924	NA	Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.599A>G	7.37:g.99669508T>C	ENSP00000415358:p.His200Arg	NA	D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	37	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189385	0.57909	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.35421	1.31;1.31;1.31	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000041	T	0.51584	0.1683	L	0.60845	1.875	0.37016	D	0.895972	D;D	0.63880	0.993;0.982	P;P	0.62491	0.824;0.903	T	0.61783	-0.6992	10	0.87932	D	0	-15.5748	12.2643	0.54668	0.0:0.0:0.0:1.0	.	183;200	B3KRP4;P17036	.;ZNF3_HUMAN	R	200	ENSP00000415358:H200R;ENSP00000306372:H200R;ENSP00000299667:H200R	ENSP00000299667:H200R	H	-	2	0	ZNF3	99507444	0.001000	0.12720	1.000000	0.80357	0.998000	0.95712	0.261000	0.18442	2.075000	0.62263	0.533000	0.62120	CAT	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336247.3		-	ENST00000424697.1	Missense_Mutation	SNP	7 : 99669508 - 99669508 C PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	570	164
ZNF787	126208	broad.mit.edu	37	19	56600294	56600294	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:56600294G>A	ENST00000270459.3	-	3	365	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CGCTGGTGCCGCGTCAGCTTG	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	15	15			NA	NA	19		NA											NA				56600294		2187	4273	6460	SO:0001583	missense			BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409	126208	126208		Zinc fingers, C2H2-type	26998	protein-coding gene	gene with protein product					NA		Standard	NM_001002836	NM_001002836	NA	Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.247C>T	19.37:g.56600294G>A	ENSP00000270459:p.Arg83Trp	NA	O00455	37	CCDS42634.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406781	0.62399	.	.	ENSG00000142409	ENST00000270459	T	0.56275	0.47	3.22	3.22	0.36961	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.73860	0.3641	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.78902	-0.2021	9	0.59425	D	0.04	-20.4997	12.27	0.54700	0.0:0.0:1.0:0.0	.	83	Q6DD87	ZN787_HUMAN	W	83	ENSP00000270459:R83W	ENSP00000270459:R83W	R	-	1	2	ZNF787	61292106	0.000000	0.05858	0.980000	0.43619	0.978000	0.69477	-0.893000	0.04127	1.812000	0.52913	0.462000	0.41574	CGG	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457498.1		-	ENST00000270459.3	Missense_Mutation	SNP	19 : 56600294 - 56600294 A PAAD-TCGA-2L-AAQA-Tumor-SM-5W7UZ	217	48
