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
ACMSD	130013	broad.mit.edu	37	2	135621024	135621024	+	Silent	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:135621024C>T	ENST00000356140.5	+	5	445	c.309C>T	c.(307-309)acC>acT	p.T103T	ACMSD_ENST00000392928.1_Silent_p.T45T|AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000283054.4_Silent_p.T45T	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	103					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TTGCCAGCACCGTTGTGAGCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	83	85			NA	NA	2		NA											NA				135621024		2203	4300	6503	SO:0001819	synonymous_variant			AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	130013	130013	4.1.1.45		19288	protein-coding gene	gene with protein product		608889			NA	12140278	Standard		NM_138326	NA	Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.309C>T	2.37:g.135621024C>T		NA	Q3B7X3|Q96KY2	37	CCDS2173.2																																																																																			ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254627.1		+	ENST00000356140.5	Silent	SNP	2 : 135621024 - 135621024 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	488	41
AKAP11	11215	broad.mit.edu	37	13	42876975	42876975	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:42876975G>C	ENST00000025301.2	+	8	4268	c.4093G>C	c.(4093-4095)Gat>Cat	p.D1365H		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1365					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GTTGATAATGGATCAGTATGC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	94	96			NA	NA	13		NA											NA				42876975		2203	4300	6503	SO:0001583	missense			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516	11215	11215		A-kinase anchor proteins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	369	protein-coding gene	gene with protein product	AKAP 220, A-kinase anchoring protein, 220kDa, protein kinase A anchoring protein 11, protein phosphatase 1, regulatory subunit 44	604696			NA	9734811, 8621616	Standard	NM_016248	NM_016248	NA	Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4093G>C	13.37:g.42876975G>C	ENSP00000025301:p.Asp1365His	NA	O75124|Q9NUK7	37	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424553	0.62733	.	.	ENSG00000023516	ENST00000025301	T	0.59906	0.23	6.16	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	M	0.68952	2.095	0.53688	D	0.999979	P	0.36990	0.577	B	0.37508	0.252	T	0.65590	-0.6131	10	0.87932	D	0	.	17.5986	0.88020	0.0:0.1234:0.8766:0.0	.	1365	Q9UKA4	AKA11_HUMAN	H	1365	ENSP00000025301:D1365H	ENSP00000025301:D1365H	D	+	1	0	AKAP11	41774975	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.096000	0.94182	1.605000	0.50152	-0.181000	0.13052	GAT	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044700.2		+	ENST00000025301.2	Missense_Mutation	SNP	13 : 42876975 - 42876975 C PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	302	10
ALG1	56052	broad.mit.edu	37	16	5129756	5129756	+	Silent	SNP	A	A	G			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:5129756A>G	ENST00000588623.1	+	10	1676	c.576A>G	c.(574-576)gaA>gaG	p.E192E	ALG1_ENST00000544428.1_Silent_p.E192E|ALG1_ENST00000262374.5_Silent_p.E303E			Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	303					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	p.E303E(3)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CAGAGTTTGAACAACTGACTC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - coding silent(3)	lung(2)|urinary_tract(1)											89	85	87			NA	NA	16		NA											NA				5129756		2197	4300	6497	SO:0001819	synonymous_variant			AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	56052	56052	2.4.1.142	Glycosyltransferase group 1 domain containing	18294	protein-coding gene	gene with protein product		605907	asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase), asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)		NA	10704531	Standard	NM_019109	NM_019109	NA	Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000588623.1:c.576A>G	16.37:g.5129756A>G		NA	Q6UVZ9|Q8N5Y4|Q9P2Y2	37																																																																																				ALG1-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000435450.2		+	ENST00000588623.1	Silent	SNP	16 : 5129756 - 5129756 G PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	611	5
ANKRD30A	91074	broad.mit.edu	37	10	37431076	37431076	+	Silent	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr10:37431076C>T	ENST00000374660.1	+	7	1182	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	ANKRD30A_ENST00000361713.1_Silent_p.I361I|ANKRD30A_ENST00000602533.1_Silent_p.I361I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	417						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTAGGAAGATCGCATGGGAGA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	98	98			NA	NA	10		NA											NA				37431076		1844	4093	5937	SO:0001819	synonymous_variant			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513	91074	91074		Ankyrin repeat domain containing	17234	protein-coding gene	gene with protein product	breast cancer antigen NY-BR-1	610856			NA	11280766	Standard	NM_052997	NM_052997	NA	Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000374660.1:c.1083C>T	10.37:g.37431076C>T		NA	Q5W025	37																																																																																				ANKRD30A-002	PUTATIVE	NMD_exception|basic	protein_coding	NA	protein_coding	OTTHUMT00000047589.2		+	ENST00000374660.1	Silent	SNP	10 : 37431076 - 37431076 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	434	17
AP000295.9	0	broad.mit.edu	37	21	34648943	34648943	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr21:34648943G>A	ENST00000433395.2	+	5	599	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	IL10RB_ENST00000290200.2_Silent_p.T72T						NA											NA						CTACCTTGACGGAATGTGATT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													219	197	204			NA	NA	21		NA											NA				34648943		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000433395.2:c.599G>A	21.37:g.34648943G>A	ENSP00000388223:p.Arg200Gln	NA		37		.	.	.	.	.	.	.	.	.	.	G	6.016	0.371328	0.11409	.	.	ENSG00000249624	ENST00000433395	.	.	.	5.73	-6.28	0.02020	.	.	.	.	.	T	0.15696	0.0378	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.25293	-1.0136	4	.	.	.	-4.5826	1.0173	0.01510	0.3828:0.0988:0.2184:0.3001	.	.	.	.	Q	200	.	.	R	+	2	0	AP000295.9	33570813	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-2.065000	0.01386	-1.134000	0.02899	-0.136000	0.14681	CGG	AP000295.9-001	PUTATIVE	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_candidate_longest|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000366943.2		+	ENST00000433395.2	Missense_Mutation	SNP	21 : 34648943 - 34648943 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	473	15
ATRX	546	broad.mit.edu	37	X	76938810	76938810	+	Silent	SNP	T	T	C			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:76938810T>C	ENST00000373344.5	-	9	2152	c.1938A>G	c.(1936-1938)ttA>ttG	p.L646L	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.L608L	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	646					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CCTCTAAAAGTAATGAAACTT	0.403		NA	Mis, F, N		Pancreatic neuroendocrine tumors, paediatric GBM		ATR-X (alpha thalassemia/mental retardation) syndrome							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											137	150	146			NA	NA	X		NA											NA				76938810		2203	4294	6497	SO:0001819	synonymous_variant			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224	546	546			886	protein-coding gene	gene with protein product	RAD54 homolog (S. cerevisiae)	300032	alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog), Juberg-Marsidi syndrome	RAD54, JMS	NA	7874112, 1415255, 8503439, 8630485	Standard	NM_000489	NM_000489	NA	Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1938A>G	X.37:g.76938810T>C		NA	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	37	CCDS14434.1																																																																																			ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058860.2		-	ENST00000373344.5	Silent	SNP	X : 76938810 - 76938810 C PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	817	48
BCAN	63827	broad.mit.edu	37	1	156626767	156626767	+	Silent	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:156626767G>A	ENST00000329117.5	+	10	2424	c.2088G>A	c.(2086-2088)caG>caA	p.Q696Q	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	NA	C-type lectin.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACGCCTTCCAGGGCGCCTGCT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	41	40			NA	NA	1		NA											NA				156626767		2203	4300	6503	SO:0001819	synonymous_variant			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692	63827	63827		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans	23059	protein-coding gene	gene with protein product	chondroitin sulfate proteoglycan 7, brevican proteoglycan	600347			NA	11054543, 11873941	Standard	NM_021948	NM_021948	NA	Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2088G>A	1.37:g.156626767G>A		NA	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	37	CCDS1149.1																																																																																			BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000081844.2		+	ENST00000329117.5	Silent	SNP	1 : 156626767 - 156626767 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	259	8
BCORL1	63035	broad.mit.edu	37	X	129173179	129173179	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:129173179G>A	ENST00000218147.7	+	10	4737	c.4540G>A	c.(4540-4542)Gat>Aat	p.D1514N	BCORL1_ENST00000303743.5_Missense_Mutation_p.D1588N|BCORL1_ENST00000359304.2_Missense_Mutation_p.D1384N|BCORL1_ENST00000540052.1_Missense_Mutation_p.D1514N			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1514					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CTATGGGGCCGATCCCACACT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	83	99			NA	NA	X		NA											NA				129173179		2203	4300	6503	SO:0001583	missense			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185	63035	63035		Ankyrin repeat domain containing	25657	protein-coding gene	gene with protein product		300688	chromosome X open reading frame 10, BCL6 co-repressor-like 1	CXorf10	NA		Standard	NM_021946	NM_021946	NA	Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4540G>A	X.37:g.129173179G>A	ENSP00000218147:p.Asp1514Asn	NA	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032012	0.93575	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.47	5.47	0.80525	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.78470	0.4288	N	0.16708	0.43	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.993	T	0.82602	-0.0376	9	0.87932	D	0	-11.2534	18.4786	0.90802	0.0:0.0:1.0:0.0	.	1588;1514	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	N	1514;1588;1384;1514;1188	ENSP00000218147:D1514N;ENSP00000307541:D1588N;ENSP00000352253:D1384N;ENSP00000437775:D1514N;ENSP00000399483:D1188N	ENSP00000218147:D1514N	D	+	1	0	BCORL1	129000860	1.000000	0.71417	0.710000	0.30468	0.866000	0.49608	9.476000	0.97823	2.305000	0.77605	0.529000	0.55759	GAT	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058223.1		+	ENST00000218147.7	Missense_Mutation	SNP	X : 129173179 - 129173179 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	200	4
CBLN1	869	broad.mit.edu	37	16	49315201	49315201	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:49315201C>A	ENST00000219197.6	-	1	541	c.176G>T	c.(175-177)aGc>aTc	p.S59I	CBLN1_ENST00000536749.1_Missense_Mutation_p.S59I	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	59	C1q.				nervous system development|synaptic transmission	cell junction|extracellular region|synapse				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				CACCTTGGCGCTGCCAGAGCG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	53	53			NA	NA	16		NA											NA				49315201		2200	4300	6500	SO:0001583	missense			M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924	869	869			1543	protein-coding gene	gene with protein product		600432			NA	7877445, 1704129	Standard	NM_004352	NM_004352	NA	Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.176G>T	16.37:g.49315201C>A	ENSP00000219197:p.Ser59Ile	NA	B2RAN9|P02682|Q52M09	37	CCDS10736.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867934	0.51588	.	.	ENSG00000102924	ENST00000219197;ENST00000536749	D;D	0.82711	-1.64;-1.64	3.88	3.88	0.44766	Complement C1q protein (2);	0.044975	0.85682	D	0.000000	T	0.78585	0.4306	L	0.39147	1.195	0.53005	D	0.999969	P	0.43973	0.823	B	0.42062	0.374	T	0.81931	-0.0707	10	0.56958	D	0.05	-20.1966	15.6102	0.76710	0.0:1.0:0.0:0.0	.	59	P23435	CBLN1_HUMAN	I	59	ENSP00000219197:S59I;ENSP00000444651:S59I	ENSP00000219197:S59I	S	-	2	0	CBLN1	47872702	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.991000	0.29654	1.994000	0.58287	0.462000	0.41574	AGC	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256845.4		-	ENST00000219197.6	Missense_Mutation	SNP	16 : 49315201 - 49315201 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	247	17
CDC27	996	broad.mit.edu	37	17	45234401	45234401	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr17:45234401A>C	ENST00000066544.3	-	7	813	c.720T>G	c.(718-720)atT>atG	p.I240M	CDC27_ENST00000527547.1_Missense_Mutation_p.I240M|CDC27_ENST00000531206.1_Missense_Mutation_p.I240M|CDC27_ENST00000446365.2_Missense_Mutation_p.I179M	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	240					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TATCAGGTGAAATTACAGCTG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	47	46			NA	NA	17		NA											NA				45234401		2191	4291	6482	SO:0001583	missense			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897	996	996		Anaphase promoting complex subunits, Tetratricopeptide (TTC) repeat domain containing	1728	protein-coding gene	gene with protein product	anaphase promoting complex subunit 3	116946	cell division cycle 27, cell division cycle 27 homolog (S. cerevisiae)	D0S1430E, D17S978E	NA	8234252	Standard		XM_005257892	NA	Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.720T>G	17.37:g.45234401A>C	ENSP00000066544:p.Ile240Met	NA	Q16349|Q96F35	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.615069	0.46631	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67865	-0.28;-0.24;0.04;-0.29;0.8	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	N	0.19112	0.55	0.51012	D	0.9999	B;B;B;B	0.28258	0.042;0.205;0.07;0.042	B;B;B;B	0.24394	0.01;0.053;0.033;0.015	T	0.49123	-0.8972	10	0.31617	T	0.26	-5.7037	13.444	0.61129	1.0:0.0:0.0:0.0	.	179;240;240;240	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	M	240;240;179;240;240	ENSP00000066544:I240M;ENSP00000434614:I240M;ENSP00000392802:I179M;ENSP00000437339:I240M;ENSP00000432105:I240M	ENSP00000066544:I240M	I	-	3	3	CDC27	42589400	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.967000	0.56802	2.066000	0.61787	0.377000	0.23210	ATT	CDC27-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389742.2		-	ENST00000066544.3	Missense_Mutation	SNP	17 : 45234401 - 45234401 C PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	259	4
CLEC4M	10332	broad.mit.edu	37	19	7832511	7832511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:7832511C>T	ENST00000327325.5	+	6	1164	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	CLEC4M_ENST00000248228.4_Missense_Mutation_p.P327L|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P298L|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P213L|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P282L|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P337L|CLEC4M_ENST00000359059.5_Missense_Mutation_p.P282L|CLEC4M_ENST00000596363.1_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	349	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CCTCTGTCACCCAGGTAGATT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	75	79			NA	NA	19		NA											NA				7832511		2203	4300	6503	SO:0001583	missense			AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938	10332	10332		C-type lectin domain containing, CD molecules	13523	protein-coding gene	gene with protein product		605872	CD299 antigen	CD209L, CD299	NA	10072769	Standard	NM_014257	NM_001144904	NA	Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.1046C>T	19.37:g.7832511C>T	ENSP00000316228:p.Pro349Leu	NA	A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	37	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	C	1.249	-0.619258	0.03663	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059	T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36	2.23	-1.48	0.08745	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.11922	0.0290	N	0.11892	0.195	0.21527	N	0.999659	B;B;P;B;B;B	0.51057	0.032;0.33;0.941;0.074;0.006;0.029	B;B;P;B;B;B	0.51266	0.021;0.133;0.664;0.185;0.002;0.016	T	0.20806	-1.0264	9	0.40728	T	0.16	.	5.2004	0.15260	0.0:0.3984:0.0:0.6016	.	298;282;349;337;326;213	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-7	.;.;CLC4M_HUMAN;.;.;.	L	349;337;327;298;282	ENSP00000316228:P349L;ENSP00000377680:P337L;ENSP00000248228:P327L;ENSP00000335228:P298L;ENSP00000351954:P282L	ENSP00000248228:P327L	P	+	2	0	CLEC4M	7738511	0.005000	0.15991	0.066000	0.19879	0.030000	0.12068	-0.702000	0.05069	-0.281000	0.09141	0.556000	0.70494	CCC	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461161.1		+	ENST00000327325.5	Missense_Mutation	SNP	19 : 7832511 - 7832511 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	265	6
CNTN1	1272	broad.mit.edu	37	12	41419082	41419082	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr12:41419082A>G	ENST00000551295.2	+	21	2771	c.2654A>G	c.(2653-2655)aAt>aGt	p.N885S	CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Missense_Mutation_p.N885S|CNTN1_ENST00000348761.2_Missense_Mutation_p.N874S	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	885	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GGGGCCTGCAATAGTGCAGGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	190	184			NA	NA	12		NA											NA				41419082		2203	4300	6503	SO:0001583	missense			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236	1272	1272		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing, Endogenous ligands	2171	protein-coding gene	gene with protein product	glycoprotein gP135	600016			NA	7959734, 8586965	Standard	NM_001843	NM_001843	NA	Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2654A>G	12.37:g.41419082A>G	ENSP00000447006:p.Asn885Ser	NA	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.499418	0.85069	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.61392	0.11;0.11;0.11	4.88	4.88	0.63580	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77618	0.4157	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.81844	-0.0746	10	0.87932	D	0	.	15.2111	0.73225	1.0:0.0:0.0:0.0	.	874;885	Q12860-2;Q12860	.;CNTN1_HUMAN	S	885;885;874	ENSP00000447006:N885S;ENSP00000325660:N885S;ENSP00000261160:N874S	ENSP00000325660:N885S	N	+	2	0	CNTN1	39705349	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.581000	0.90788	2.127000	0.65507	0.533000	0.62120	AAT	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403692.2		+	ENST00000551295.2	Missense_Mutation	SNP	12 : 41419082 - 41419082 G PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	1227	79
COL2A1	1280	broad.mit.edu	37	12	48388219	48388219	+	Silent	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr12:48388219C>T	ENST00000380518.3	-	12	968	c.804G>A	c.(802-804)ccG>ccA	p.P268P	COL2A1_ENST00000337299.6_Silent_p.P199P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	268	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.P199P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GAGGACCAGGCGGACCCCTTT	0.557		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)											128	105	113			NA	NA	12		NA											NA				48388219		2203	4300	6503	SO:0001819	synonymous_variant			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219	1280	1280		Collagens	2200	protein-coding gene	gene with protein product		120140	collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital), arthroophthalmopathy, progressive (Stickler syndrome)	SEDC, AOM	NA	1677770	Standard	NM_001844	NM_033150	NA	Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.804G>A	12.37:g.48388219C>T		NA	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	37	CCDS41778.1																																																																																			COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313810.2		-	ENST00000380518.3	Silent	SNP	12 : 48388219 - 48388219 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	272	5
CSMD2	114784	broad.mit.edu	37	1	34164425	34164425	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:34164425G>A	ENST00000373380.1	-	3	692	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.R1285W			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1245	Sushi 1.					integral to membrane|plasma membrane	protein binding	p.R1245W(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCACTACCCCGCAGGCTGTAT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											81	78	79			NA	NA	1		NA											NA				34164425		2203	4300	6503	SO:0001583	missense			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904	114784	114784			19290	protein-coding gene	gene with protein product		608398			NA	11472063, 11572484	Standard	NM_052896	NM_001281956	NA	Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.472C>T	1.37:g.34164425G>A	ENSP00000362478:p.Arg158Trp	NA	B1AM50|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	37		.	.	.	.	.	.	.	.	.	.	G	19.54	3.847745	0.71603	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.65732	-0.17;-0.17	5.76	4.83	0.62350	Complement control module (2);Sushi/SCR/CCP (3);	0.064952	0.64402	D	0.000009	T	0.75398	0.3844	M	0.62266	1.93	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;P;P	0.69307	0.963;0.892;0.892	T	0.78157	-0.2313	10	0.66056	D	0.02	.	14.5371	0.67969	0.0:0.0:0.735:0.265	.	158;1245;1285	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	W	1285;158	ENSP00000362479:R1285W;ENSP00000362478:R158W	ENSP00000241312:R1245W	R	-	1	2	CSMD2	33937012	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.128000	0.42045	1.522000	0.49001	0.650000	0.86243	CGG	CSMD2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000030635.4		-	ENST00000373380.1	Missense_Mutation	SNP	1 : 34164425 - 34164425 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	358	9
CSNK1A1L	122011	broad.mit.edu	37	13	37678736	37678736	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:37678736G>A	ENST00000379800.3	-	1	1067	c.658C>T	c.(658-660)Ccg>Tcg	p.P220S		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	220	Protein kinase.		P -> L (in dbSNP:rs56252856).		Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CCTTGCCACGGCAGGCTGGTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	102	103			NA	NA	13		NA											NA				37678736		2203	4300	6503	SO:0001583	missense			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138	122011	122011			20289	protein-coding gene	gene with protein product					NA		Standard	NM_145203	NM_145203	NA	Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.658C>T	13.37:g.37678736G>A	ENSP00000369126:p.Pro220Ser	NA	Q5T2N2	37	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854424	0.32791	.	.	ENSG00000180138	ENST00000379800	T	0.34859	1.34	1.08	1.08	0.20341	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	H	0.99042	4.41	0.39701	D	0.971184	P	0.36222	0.544	B	0.38985	0.287	T	0.66089	-0.6010	10	0.87932	D	0	.	7.9927	0.30250	0.0:0.0:1.0:0.0	.	220	Q8N752	KC1AL_HUMAN	S	220	ENSP00000369126:P220S	ENSP00000369126:P220S	P	-	1	0	CSNK1A1L	36576736	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	2.916000	0.48813	0.871000	0.35750	0.561000	0.74099	CCG	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044563.1		-	ENST00000379800.3	Missense_Mutation	SNP	13 : 37678736 - 37678736 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	469	5
CSPG5	10675	broad.mit.edu	37	3	47618423	47618423	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:47618423G>A	ENST00000383738.2	-	2	3191	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	CSPG5_ENST00000264723.4_Missense_Mutation_p.R365W|CSPG5_ENST00000456150.1_Missense_Mutation_p.R227W	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	365					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCGTTATGCCGCACAAAGCCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	96	95			NA	NA	3		NA											NA				47618423		2203	4299	6502	SO:0001583	missense			AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646	10675	10675			2467	protein-coding gene	gene with protein product		606775			NA	9950058	Standard	NM_006574	NM_006574	NA	Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1093C>T	3.37:g.47618423G>A	ENSP00000373244:p.Arg365Trp	NA	Q71M39|Q71M40	37	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587159	0.66105	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.26810	1.76;1.73;1.71	4.63	-0.0101	0.13998	.	0.137586	0.46442	D	0.000299	T	0.39064	0.1064	L	0.44542	1.39	0.22581	N	0.998964	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.976	T	0.34725	-0.9817	10	0.72032	D	0.01	-10.6519	13.8559	0.63527	0.0:0.0:0.4812:0.5187	.	365;365	O95196;O95196-2	CSPG5_HUMAN;.	W	227;365;365	ENSP00000392096:R227W;ENSP00000373244:R365W;ENSP00000264723:R365W	ENSP00000264723:R365W	R	-	1	2	CSPG5	47593427	0.029000	0.19370	0.546000	0.28166	0.984000	0.73092	0.680000	0.25306	0.127000	0.18452	-0.182000	0.12963	CGG	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257489.1		-	ENST00000383738.2	Missense_Mutation	SNP	3 : 47618423 - 47618423 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	563	6
DIP2A	23181	broad.mit.edu	37	21	47918690	47918690	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr21:47918690C>T	ENST00000400274.1	+	5	832	c.599C>T	c.(598-600)aCg>aTg	p.T200M	DIP2A_ENST00000457905.3_Missense_Mutation_p.T200M|DIP2A_ENST00000435722.3_Missense_Mutation_p.T200M|DIP2A_ENST00000318711.7_Missense_Mutation_p.T200M|DIP2A_ENST00000466639.1_Missense_Mutation_p.T200M|DIP2A_ENST00000417564.2_Missense_Mutation_p.T200M|DIP2A_ENST00000427143.2_Missense_Mutation_p.T136M			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	200					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCTGCAGCCACGCCGGGGGCC	0.667		NA											C	2	9e-04	0.0041	NA	2184	NA	0.9998	,	,	NA	2e-04	NA	NA	NA	9e-04	0.8857	EXOME	NA	NA	2e-04	SNP								NA				0													21	30	27			NA	NA	21		NA											NA				47918690		2012	4154	6166	SO:0001583	missense			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305	23181	23181			17217	protein-coding gene	gene with protein product		607711	chromosome 21 open reading frame 106	C21orf106	NA		Standard	NM_015151	NM_015151	NA	Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000400274.1:c.599C>T	21.37:g.47918690C>T	ENSP00000383133:p.Thr200Met	NA	A6P4T3|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	37	CCDS54490.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	4.503	0.093291	0.08632	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.23754	1.9;1.89;1.93;1.89;1.92;1.91;1.9	1.13	1.13	0.20643	.	1.142920	0.07083	U	0.837442	T	0.24736	0.0600	N	0.08118	0	0.09310	N	1	P;P;D;P;D;P	0.64830	0.819;0.927;0.994;0.819;0.966;0.871	B;B;P;B;B;B	0.62014	0.118;0.322;0.897;0.118;0.176;0.157	T	0.31138	-0.9954	10	0.51188	T	0.08	.	5.6389	0.17552	0.0:1.0:0.0:0.0	.	200;136;200;200;200;200	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	M	200;136;200;200;200;200;200;200	ENSP00000383133:T200M;ENSP00000400528:T136M;ENSP00000323633:T200M;ENSP00000393434:T200M;ENSP00000430249:T200M;ENSP00000415089:T200M;ENSP00000392066:T200M	ENSP00000323633:T200M	T	+	2	0	DIP2A	46743118	0.014000	0.17966	0.061000	0.19648	0.039000	0.13416	1.503000	0.35715	0.922000	0.37019	0.650000	0.86243	ACG	DIP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207431.1		+	ENST00000400274.1	Missense_Mutation	SNP	21 : 47918690 - 47918690 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	226	12
DSCAM	1826	broad.mit.edu	37	21	41719644	41719644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr21:41719644C>T	ENST00000400454.1	-	6	1640	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	388	Ig-like C2-type 4.				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)				CTTGTCCTTGCGCACAAAGCA	0.502		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								C	HIS/ARG	0,4010		0,0,2005	237	216	223		1163	5.1	1	21		223	1,8335		0,1,4167	no	missense	DSCAM	NM_001389.3	29	0,1,6172	TT,TC,CC	NA	0.012,0.0,0.0081	probably-damaging	388/2013	41719644	1,12345	2005	4168	6173	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.1163G>A	21.37:g.41719644C>T	ENSP00000383303:p.Arg388His	NA	O60468	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075691	0.94000	0.0	1.2E-4	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.67523	-0.27;-0.27	5.1	5.1	0.69264	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.80265	0.4591	M	0.67569	2.06	0.51012	D	0.999908	D	0.89917	1.0	D	0.69142	0.962	T	0.80578	-0.1320	10	0.46703	T	0.11	.	18.4949	0.90861	0.0:1.0:0.0:0.0	.	388	O60469	DSCAM_HUMAN	H	388;140	ENSP00000383303:R388H;ENSP00000385342:R140H	ENSP00000383303:R388H	R	-	2	0	DSCAM	40641514	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.718000	0.84743	2.344000	0.79699	0.655000	0.94253	CGC	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195029.1		-	ENST00000400454.1	Missense_Mutation	SNP	21 : 41719644 - 41719644 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	1300	9
DSCAML1	57453	broad.mit.edu	37	11	117651364	117651364	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr11:117651364C>T	ENST00000321322.6	-	2	389	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	70	Ig-like C2-type 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATGTGCGGCACGTCGTAGATG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	116	115			NA	NA	11		NA											NA				117651364		2200	4296	6496	SO:0001583	missense				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103	57453	57453		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	14656	protein-coding gene	gene with protein product		611782			NA	11453658	Standard	NM_020693	NM_020693	NA	Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.388G>A	11.37:g.117651364C>T	ENSP00000315465:p.Val130Met	NA	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613460	0.87359	.	.	ENSG00000177103	ENST00000321322	T	0.62105	0.05	5.1	5.1	0.69264	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78761	0.4334	M	0.65677	2.01	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	T	0.80674	-0.1277	9	0.72032	D	0.01	.	18.9124	0.92491	0.0:1.0:0.0:0.0	.	70	Q8TD84	DSCL1_HUMAN	M	130	ENSP00000315465:V130M	ENSP00000315465:V130M	V	-	1	0	DSCAML1	117156574	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.880000	0.69698	2.536000	0.85505	0.563000	0.77884	GTG	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392907.2		-	ENST00000321322.6	Missense_Mutation	SNP	11 : 117651364 - 117651364 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	548	15
EFTUD2	9343	broad.mit.edu	37	17	42937897	42937897	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr17:42937897A>G	ENST00000426333.2	-	17	1919	c.1622T>C	c.(1621-1623)gTg>gCg	p.V541A	EFTUD2_ENST00000592576.1_Missense_Mutation_p.V531A|EFTUD2_ENST00000402521.3_Missense_Mutation_p.V506A|EFTUD2_ENST00000591382.1_Missense_Mutation_p.V541A	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	541						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				AACACGGTTCACCTCGATGTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(10;65 485 10258 29980 30707)							NA				0													133	110	118			NA	NA	17		NA											NA				42937897		2203	4300	6503	SO:0001583	missense			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883	9343	9343			30858	protein-coding gene	gene with protein product	U5 snRNP specific protein, 116 kD	603892			NA	9233818	Standard	NM_004247	NM_004247	NA	Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1622T>C	17.37:g.42937897A>G	ENSP00000392094:p.Val541Ala	NA	D3DX58|Q9BUR0	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	A	19.36	3.813251	0.70912	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.68903	-0.36;-0.36	5.34	5.34	0.76211	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.78604	0.4309	M	0.91354	3.2	0.80722	D	1	P;P	0.38535	0.635;0.635	P;P	0.44811	0.461;0.461	T	0.82112	-0.0618	10	0.51188	T	0.08	-18.7055	15.129	0.72507	1.0:0.0:0.0:0.0	.	531;541	B4DMC0;Q15029	.;U5S1_HUMAN	A	541;531;506	ENSP00000392094:V541A;ENSP00000385873:V506A	ENSP00000262414:V531A	V	-	2	0	EFTUD2	40293423	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.055000	0.93873	2.240000	0.73641	0.528000	0.53228	GTG	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448672.1		-	ENST00000426333.2	Missense_Mutation	SNP	17 : 42937897 - 42937897 G PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	430	42
F7	2155	broad.mit.edu	37	13	113772782	113772782	+	Silent	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:113772782G>A	ENST00000375581.3	+	9	896	c.861G>A	c.(859-861)caG>caA	p.Q287Q	F7_ENST00000346342.3_Silent_p.Q265Q|F7_ENST00000541084.1_Silent_p.Q218Q	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	287	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GGGTGGCGCAGGTCATCATCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	71	74			NA	NA	13		NA											NA				113772782		2202	4297	6499	SO:0001819	synonymous_variant				CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	2155	2155	3.4.21.21		3544	protein-coding gene	gene with protein product	eptacog alfa, FVII coagulation protein, factor VII	613878			NA	3264725, 2511201	Standard	NM_000131	NM_000131	NA	Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.861G>A	13.37:g.113772782G>A		NA	B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	37	CCDS9528.1																																																																																			F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045838.4		+	ENST00000375581.3	Silent	SNP	13 : 113772782 - 113772782 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	329	28
FAM35A	54537	broad.mit.edu	37	10	88930319	88930319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr10:88930319C>T	ENST00000298786.4	+	5	1832	c.1718C>T	c.(1717-1719)cCg>cTg	p.P573L	FAM35A_ENST00000298784.1_Missense_Mutation_p.P573L			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	573										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GATCTTCCTCCGAGGCAGCCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(175;703 2004 25460 32514 43441)							NA				0													82	79	80			NA	NA	10		NA											NA				88930319		2203	4298	6501	SO:0001583	missense			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376	54537	54537			28773	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_019054	NM_019054	NA	Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298786.4:c.1718C>T	10.37:g.88930319C>T	ENSP00000298786:p.Pro573Leu	NA	O95885|Q9H991	37		.	.	.	.	.	.	.	.	.	.	c	0.300	-0.974237	0.02215	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.62105	0.05;0.05;0.05	4.26	-3.33	0.04958	.	1.405890	0.04709	N	0.417233	T	0.38480	0.1042	N	0.14661	0.345	0.25539	N	0.987192	B	0.09022	0.002	B	0.08055	0.003	T	0.13098	-1.0522	10	0.35671	T	0.21	-0.6937	2.3797	0.04351	0.5404:0.1118:0.2298:0.1179	.	573	Q86V20	FA35A_HUMAN	L	573	ENSP00000298786:P573L;ENSP00000298784:P573L;ENSP00000351064:P573L	ENSP00000298784:P573L	P	+	2	0	FAM35A	88920299	0.000000	0.05858	0.326000	0.25389	0.352000	0.29268	-1.271000	0.02828	-0.356000	0.08187	-1.268000	0.01426	CCG	FAM35A-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000049197.2		+	ENST00000298786.4	Missense_Mutation	SNP	10 : 88930319 - 88930319 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	556	12
FER1L6	654463	broad.mit.edu	37	8	125058136	125058136	+	Silent	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr8:125058136C>T	ENST00000522917.1	+	21	2924	c.2718C>T	c.(2716-2718)gaC>gaT	p.D906D	FER1L6_ENST00000399018.1_Silent_p.D906D	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	906	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATGACAGCGACGCTGTGGTGA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	125	124			NA	NA	8		NA											NA				125058136		1970	4162	6132	SO:0001819	synonymous_variant			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814	654463	654463			28065	protein-coding gene	gene with protein product			fer-1-like 6 (C. elegans)		NA		Standard	NM_001039112	NM_001039112	NA	Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2718C>T	8.37:g.125058136C>T		NA		37	CCDS43767.1																																																																																			FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381400.1		+	ENST00000522917.1	Silent	SNP	8 : 125058136 - 125058136 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	604	39
FREM2	341640	broad.mit.edu	37	13	39262608	39262608	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:39262608G>A	ENST00000280481.7	+	1	1343	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	376					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACCGATGATCGCAGCCTGCCC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	97	97			NA	NA	13		NA											NA				39262608		2203	4300	6503	SO:0001583	missense			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893	341640	341640			25396	protein-coding gene	gene with protein product		608945			NA	15345741	Standard	NM_207361	NM_207361	NA	Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1127G>A	13.37:g.39262608G>A	ENSP00000280481:p.Arg376His	NA	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394821	0.62066	.	.	ENSG00000150893	ENST00000280481	T	0.17370	2.28	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	N	0.21583	0.68	0.58432	D	0.999997	D	0.89917	1.0	P	0.60789	0.879	T	0.01004	-1.1484	10	0.28530	T	0.3	.	16.5915	0.84766	0.0:0.13:0.87:0.0	.	376	Q5SZK8	FREM2_HUMAN	H	376	ENSP00000280481:R376H	ENSP00000280481:R376H	R	+	2	0	FREM2	38160608	0.149000	0.22717	0.998000	0.56505	0.996000	0.88848	1.935000	0.40173	2.826000	0.97356	0.561000	0.74099	CGC	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044599.2		+	ENST00000280481.7	Missense_Mutation	SNP	13 : 39262608 - 39262608 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	460	21
GALNT1	2589	broad.mit.edu	37	18	33243666	33243666	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr18:33243666C>G	ENST00000269195.5	+	2	317	c.214C>G	c.(214-216)Caa>Gaa	p.Q72E	GALNT1_ENST00000537549.1_Missense_Mutation_p.Q12E|GALNT1_ENST00000591081.1_Missense_Mutation_p.Q72E	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	72					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TAAAGAGGATCAAGAAAAGAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	105	107			NA	NA	18		NA											NA				33243666		2203	4300	6503	SO:0001583	missense				CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2589	2589	2.4.1.41	Glycosyltransferase family 2 domain containing	4123	protein-coding gene	gene with protein product	protein-UDP acetylgalactosaminyltransferase 1, polypeptide GalNAc transferase 1	602273	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)		NA	7592619, 12199709	Standard	NM_020474	NM_020474	NA	Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.214C>G	18.37:g.33243666C>G	ENSP00000269195:p.Gln72Glu	NA	Q86TJ7|Q9UM86	37	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589022	0.46110	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.54279	0.62;0.58	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.43122	0.1233	L	0.35854	1.095	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26395	-1.0104	10	0.19147	T	0.46	.	16.026	0.80545	0.0:1.0:0.0:0.0	.	72	Q10472	GALT1_HUMAN	E	72;72;12	ENSP00000269195:Q72E;ENSP00000440910:Q12E	ENSP00000269195:Q72E	Q	+	1	0	GALNT1	31497664	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.399000	0.81585	0.655000	0.94253	CAA	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255771.2		+	ENST00000269195.5	Missense_Mutation	SNP	18 : 33243666 - 33243666 G PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	240	7
GPA33	10223	broad.mit.edu	37	1	167024256	167024256	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:167024256G>A	ENST00000367868.3	-	6	1127	c.784C>T	c.(784-786)Cga>Tga	p.R262*	RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	262						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TCCTTCCCTCGGCAGCAGCAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	119	132			NA	NA	1		NA											NA				167024256		2203	4300	6503	SO:0001587	stop_gained			U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167	10223	10223		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	4445	protein-coding gene	gene with protein product		602171			NA	9012807, 9245713	Standard	NM_005814	NM_005814	NA	Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.784C>T	1.37:g.167024256G>A	ENSP00000356842:p.Arg262*	NA		37	CCDS1258.1	.	.	.	.	.	.	.	.	.	.	G	36	5.857738	0.97030	.	.	ENSG00000143167	ENST00000367868	.	.	.	4.67	3.64	0.41730	.	0.451102	0.20825	N	0.084995	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7064	0.45958	0.0:0.0:0.7959:0.2041	.	.	.	.	X	262	.	ENSP00000356842:R262X	R	-	1	2	GPA33	165290880	0.983000	0.35010	0.792000	0.32020	0.425000	0.31504	2.725000	0.47294	2.135000	0.66039	0.484000	0.47621	CGA	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083245.1		-	ENST00000367868.3	Nonsense_Mutation	SNP	1 : 167024256 - 167024256 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	289	13
GRIN3A	116443	broad.mit.edu	37	9	104385694	104385694	+	Silent	SNP	G	G	A	rs143827340		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr9:104385694G>A	ENST00000361820.3	-	5	3120	c.2520C>T	c.(2518-2520)gaC>gaT	p.D840D		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	840					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.D840E(1)|p.D840D(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TGATGAAGGCGTCTAGTTTCT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)						G		1,4405	2.1+/-5.4	0,1,2202	143	128	133		2520	-1.5	1	9	dbSNP_134	133	0,8600		0,0,4300	no	coding-synonymous	GRIN3A	NM_133445.2		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		840/1116	104385694	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785	116443	116443		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	16767	protein-coding gene	gene with protein product		606650			NA		Standard		NM_133445	NA	Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2520C>T	9.37:g.104385694G>A		NA	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	37	CCDS6758.1																																																																																			GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053453.1		-	ENST00000361820.3	Silent	SNP	9 : 104385694 - 104385694 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	406	19
GRK5	2869	broad.mit.edu	37	10	121203161	121203161	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr10:121203161G>A	ENST00000392870.2	+	12	1492	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	GRK5_ENST00000369108.3_Missense_Mutation_p.R283H	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	388	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TTCCGCGGCCGCAAGGAGAAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	45	44			NA	NA	10		NA											NA				121203161		2203	4300	6503	SO:0001583	missense			L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873	2869	2869			4544	protein-coding gene	gene with protein product		600870		GPRK5	NA	7685906	Standard	NM_005308	NM_005308	NA	Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.1163G>A	10.37:g.121203161G>A	ENSP00000376609:p.Arg388His	NA	D3DRD0|Q5T059	37	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	g	20.6	4.009541	0.75046	.	.	ENSG00000198873	ENST00000392870;ENST00000369108	T;T	0.65364	-0.15;-0.15	5.11	5.11	0.69529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000013	T	0.65893	0.2735	N	0.16903	0.455	0.80722	D	1	B;D	0.76494	0.082;0.999	B;D	0.76071	0.019;0.987	T	0.63571	-0.6607	10	0.22109	T	0.4	-1.8258	18.5308	0.90992	0.0:0.0:1.0:0.0	.	388;388	B2R7K0;P34947	.;GRK5_HUMAN	H	388;283	ENSP00000376609:R388H;ENSP00000358104:R283H	ENSP00000358104:R283H	R	+	2	0	GRK5	121193151	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.830000	0.99415	2.390000	0.81377	0.561000	0.74099	CGC	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050652.2		+	ENST00000392870.2	Missense_Mutation	SNP	10 : 121203161 - 121203161 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	231	5
HDGFRP2	0	broad.mit.edu	37	19	4499495	4499495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:4499495G>A	ENST00000301284.4	+	14	1647	c.1583G>A	c.(1582-1584)cGt>cAt	p.R528H	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.R528H	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		528					transcription, DNA-dependent	nucleus	DNA binding|protein binding				NA						CAGATTCGCCGTTACAAAGCG	0.622		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	19		NA											NA				4499495		1980	4137	6117	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000301284.4:c.1583G>A	19.37:g.4499495G>A	ENSP00000301284:p.Arg528His	NA	Q96GI5|Q9BW08	37	CCDS42472.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671914	0.67928	.	.	ENSG00000167674	ENST00000301284	T	0.57273	0.41	3.93	3.93	0.45458	Transcription factor IIS, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70482	0.3229	M	0.70275	2.135	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.75525	-0.3287	10	0.87932	D	0	.	14.6987	0.69142	0.0:0.0:1.0:0.0	.	528;528	C9JEE1;Q7Z4V5	.;HDGR2_HUMAN	H	528	ENSP00000301284:R528H	ENSP00000301284:R528H	R	+	2	0	AC011498.1	4450495	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	7.914000	0.87478	2.039000	0.60335	0.462000	0.41574	CGT	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458642.1		+	ENST00000301284.4	Missense_Mutation	SNP	19 : 4499495 - 4499495 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	178	8
HERC2	8924	broad.mit.edu	37	15	28391388	28391388	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr15:28391388C>T	ENST00000261609.7	-	71	11111	c.11003G>A	c.(11002-11004)cGg>cAg	p.R3668Q		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3668					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTACCTGACCGCACGGAGAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	92	109			NA	NA	15		NA											NA				28391388		2203	4300	6503	SO:0001583	missense			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	8924	8924			4868	protein-coding gene	gene with protein product		605837	hect domain and RLD 2		NA	9949213	Standard	NM_004667	NM_004667	NA	Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11003G>A	15.37:g.28391388C>T	ENSP00000261609:p.Arg3668Gln	NA	Q86SV7|Q86SV8|Q86SV9|Q86YY3|Q86YY4|Q86YY5|Q86YY6|Q86YY7|Q86YY8|Q86YY9|Q86YZ0|Q86YZ1	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	36	5.958751	0.97145	.	.	ENSG00000128731	ENST00000261609	T	0.39229	1.09	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.65606	0.2707	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.66497	0.944	T	0.68172	-0.5479	10	0.66056	D	0.02	.	19.4151	0.94690	0.0:1.0:0.0:0.0	.	3668	O95714	HERC2_HUMAN	Q	3668	ENSP00000261609:R3668Q	ENSP00000261609:R3668Q	R	-	2	0	HERC2	26064983	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.818000	0.86416	2.601000	0.87937	0.644000	0.83932	CGG	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251358.2		-	ENST00000261609.7	Missense_Mutation	SNP	15 : 28391388 - 28391388 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	226	9
HERPUD1	9709	broad.mit.edu	37	16	56973916	56973916	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:56973916G>T	ENST00000439977.2	+	6	861	c.664G>T	c.(664-666)Gaa>Taa	p.E222*	HERPUD1_ENST00000300302.5_Nonsense_Mutation_p.E221*|HERPUD1_ENST00000379792.2_Nonsense_Mutation_p.E197*|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000344114.4_Intron	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	222						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						GTTTCCAGCTGAAAACCAGCC	0.507		NA	T	ERG	prostate									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16q12.2-q13	9709	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1		E	0													74	68	70			NA	NA	16		NA											NA				56973916		2198	4300	6498	SO:0001587	stop_gained			AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108	9709	9709			13744	protein-coding gene	gene with protein product		608070			NA	10922362, 10708769	Standard		NM_001010989	NA	Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.664G>T	16.37:g.56973916G>T	ENSP00000409555:p.Glu222*	NA	O60644|Q6IAN8|Q96D92	37	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763994	0.69878	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302	.	.	.	5.65	5.65	0.86999	.	0.211534	0.49916	D	0.000125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-11.2101	8.4918	0.33104	0.0816:0.1675:0.7509:0.0	.	.	.	.	X	221;197;222	.	ENSP00000300302:E222X	E	+	1	0	HERPUD1	55531417	0.998000	0.40836	0.992000	0.48379	0.992000	0.81027	2.676000	0.46883	2.668000	0.90789	0.655000	0.94253	GAA	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257056.5		+	ENST00000439977.2	Nonsense_Mutation	SNP	16 : 56973916 - 56973916 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	220	6
HSPA4	3308	broad.mit.edu	37	5	132432935	132432935	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:132432935G>A	ENST00000304858.2	+	15	2175	c.1886G>A	c.(1885-1887)aGa>aAa	p.R629K		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	629					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATGAAATGAGAGACAAGCTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(114;1299 1588 6063 12302 48757)							NA				0													249	230	236			NA	NA	5		NA											NA				132432935		2203	4300	6503	SO:0001583	missense			AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606	3308	3308		Heat shock proteins / HSP70	5237	protein-coding gene	gene with protein product	hsp70 RY	601113	heat shock 70kD protein 4		NA	8335910	Standard	NM_002154, NM_198431	NM_002154	NA	Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1886G>A	5.37:g.132432935G>A	ENSP00000302961:p.Arg629Lys	NA	O95756|Q2TAL4	37	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	G	34	5.308483	0.95629	.	.	ENSG00000170606	ENST00000304858	T	0.12879	2.64	5.8	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.23532	0.0569	M	0.83953	2.67	0.80722	D	1	B	0.21071	0.051	B	0.23150	0.044	T	0.03684	-1.1013	10	0.66056	D	0.02	-17.85	14.6068	0.68486	0.0695:0.0:0.9305:0.0	.	629	P34932	HSP74_HUMAN	K	629	ENSP00000302961:R629K	ENSP00000302961:R629K	R	+	2	0	HSPA4	132460834	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	1.455000	0.47813	0.579000	0.79373	AGA	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251011.1		+	ENST00000304858.2	Missense_Mutation	SNP	5 : 132432935 - 132432935 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	503	14
INTS1	26173	broad.mit.edu	37	7	1542704	1542704	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:1542704G>A	ENST00000404767.3	-	3	267	c.182C>T	c.(181-183)gCg>gTg	p.A61V	INTS1_ENST00000389470.4_Missense_Mutation_p.A189V	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	61	Poly-Ala.				snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CGCGGCCGCCGCATCCCGCTT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	68	64			NA	NA	7		NA											NA				1542704		2021	4166	6187	SO:0001583	missense			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880	26173	26173			24555	protein-coding gene	gene with protein product		611345			NA	16239144	Standard		NM_001080453	NA	Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.182C>T	7.37:g.1542704G>A	ENSP00000385722:p.Ala61Val	NA	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	37	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184869	0.57909	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.47869	0.83;0.83	4.61	3.72	0.42706	.	0.137694	0.49916	D	0.000129	T	0.43897	0.1268	L	0.61218	1.895	0.45354	D	0.998342	P;P	0.43750	0.816;0.816	B;B	0.36766	0.232;0.116	T	0.52660	-0.8546	10	0.72032	D	0.01	.	13.7251	0.62754	0.0:0.156:0.844:0.0	.	189;61	A4D212;Q8N201	.;INT1_HUMAN	V	61;189	ENSP00000385722:A61V;ENSP00000374121:A189V	ENSP00000374121:A189V	A	-	2	0	INTS1	1509230	1.000000	0.71417	0.767000	0.31495	0.393000	0.30537	5.086000	0.64474	1.134000	0.42165	0.563000	0.77884	GCG	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323683.1		-	ENST00000404767.3	Missense_Mutation	SNP	7 : 1542704 - 1542704 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	438	6
ITFG1	81533	broad.mit.edu	37	16	47196504	47196504	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:47196504C>T	ENST00000320640.6	-	15	1753	c.1525G>A	c.(1525-1527)Gca>Aca	p.A509T	RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Missense_Mutation_p.A396T|RP11-329J18.2_ENST00000564705.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	509						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AGAAAATTTGCGCTCCGACCT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	103	102			NA	NA	16		NA											NA				47196504		2202	4300	6502	SO:0001583	missense			AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636	81533	81533			30697	protein-coding gene	gene with protein product	T cell immunomodulatory protein	611803			NA	12598909	Standard	NM_030790	NM_030790	NA	Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1525G>A	16.37:g.47196504C>T	ENSP00000319918:p.Ala509Thr	NA	Q96SR4|Q9BRE2|Q9H2V9	37	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478197	0.96291	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	T;T	0.62498	0.02;0.02	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	L	0.45581	1.43	0.80722	D	1	P;D	0.89917	0.953;1.0	B;D	0.66084	0.292;0.941	T	0.62469	-0.6848	10	0.02654	T	1	-17.4271	19.4863	0.95030	0.0:1.0:0.0:0.0	.	396;509	F5GXC5;Q8TB96	.;TIP_HUMAN	T	509;169;254;396	ENSP00000319918:A509T;ENSP00000441062:A396T	ENSP00000319918:A509T	A	-	1	0	ITFG1	45754005	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.177000	0.65032	2.618000	0.88619	0.591000	0.81541	GCA	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256768.3		-	ENST00000320640.6	Missense_Mutation	SNP	16 : 47196504 - 47196504 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	560	5
ITLN1	55600	broad.mit.edu	37	1	160850421	160850421	+	Silent	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:160850421G>A	ENST00000326245.3	-	6	757	c.642C>T	c.(640-642)ggC>ggT	p.G214G	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	214	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCTGGGCGTCGCCAAAATCAT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	181	181			NA	NA	1		NA											NA				160850421		2203	4300	6503	SO:0001819	synonymous_variant			AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914	55600	55600			18259	protein-coding gene	gene with protein product		609873			NA	11313366, 11181563	Standard	NM_017625	NM_017625	NA	Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.642C>T	1.37:g.160850421G>A		NA	Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	37	CCDS1211.1																																																																																			ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071462.1		-	ENST00000326245.3	Silent	SNP	1 : 160850421 - 160850421 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	909	9
KIF16B	55614	broad.mit.edu	37	20	16360516	16360516	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr20:16360516G>A	ENST00000354981.2	-	19	2288	c.2131C>T	c.(2131-2133)Cga>Tga	p.R711*	KIF16B_ENST00000408042.1_Nonsense_Mutation_p.R711*|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.R711*|KIF16B_ENST00000378003.2_De_novo_Start_OutOfFrame	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	711	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCTTTGAGTCGTTGGAGTTCT	0.443		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	2e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	4e-04	SNP								NA				0													155	140	146			NA	NA	20		NA											NA				16360516		2203	4300	6503	SO:0001587	stop_gained			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177	55614	55614		Kinesins	15869	protein-coding gene	gene with protein product			chromosome 20 open reading frame 23	C20orf23	NA	16084724, 16782399	Standard	NM_017683	NM_024704	NA	Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2131C>T	20.37:g.16360516G>A	ENSP00000347076:p.Arg711*	NA	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	37	CCDS13122.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.79	3.698839	0.68501	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000408042	.	.	.	5.39	-2.5	0.06384	.	0.267875	0.35585	N	0.003112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.9842	0.09507	0.3095:0.0:0.3307:0.3598	.	.	.	.	X	711	.	ENSP00000347076:R711X	R	-	1	2	KIF16B	16308516	0.637000	0.27216	0.033000	0.17914	0.004000	0.04260	0.491000	0.22419	-0.381000	0.07882	0.655000	0.94253	CGA	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078104.2		-	ENST00000354981.2	Nonsense_Mutation	SNP	20 : 16360516 - 16360516 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	514	13
KPNA4	3840	broad.mit.edu	37	3	160233331	160233331	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:160233331C>G	ENST00000334256.4	-	12	1246	c.941G>C	c.(940-942)gGa>gCa	p.G314A		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	314	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CTCATCAGTTCCAGTAACAAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	97	103			NA	NA	3		NA											NA				160233331		2203	4300	6503	SO:0001583	missense			AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432	3840	3840		Importins, Armadillo repeat containing	6397	protein-coding gene	gene with protein product		602970			NA	9168958, 9395085	Standard	NM_002268	NM_002268	NA	Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.941G>C	3.37:g.160233331C>G	ENSP00000334373:p.Gly314Ala	NA	A8K4S6|D3DNM2|O00190	37	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102219	0.94245	.	.	ENSG00000186432	ENST00000334256;ENST00000483437	T;T	0.32515	1.45;1.45	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68320	0.2988	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76586	-0.2905	10	0.87932	D	0	-4.4791	19.8667	0.96806	0.0:1.0:0.0:0.0	.	314	O00629	IMA4_HUMAN	A	314;19	ENSP00000334373:G314A;ENSP00000417172:G19A	ENSP00000334373:G314A	G	-	2	0	KPNA4	161716025	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.668000	0.83897	2.773000	0.95371	0.655000	0.94253	GGA	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352960.1		-	ENST00000334256.4	Missense_Mutation	SNP	3 : 160233331 - 160233331 G PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	593	26
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	324	13
LCE2B	26239	broad.mit.edu	37	1	152659492	152659492	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:152659492C>T	ENST00000368780.3	+	2	227	c.173C>T	c.(172-174)cCc>cTc	p.P58L	LCE2B_ENST00000417924.2_Missense_Mutation_p.P58L	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	58	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGTGGTCCCAGCTCTGGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	119	113			NA	NA	1		NA											NA				152659492		2203	4300	6503	SO:0001583	missense			BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455	26239	26239		Late cornified envelopes	16610	protein-coding gene	gene with protein product		612610	small proline rich-like (epidermal differentiation complex) 1B	SPRL1B	NA	11698679, 9344646	Standard	NM_014357	NM_014357	NA	Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.173C>T	1.37:g.152659492C>T	ENSP00000357769:p.Pro58Leu	NA	Q5TA80	37	CCDS1020.1	.	.	.	.	.	.	.	.	.	.	C	0.706	-0.789106	0.02884	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.03982	3.74;3.74	2.49	0.482	0.16815	.	.	.	.	.	T	0.01189	0.0039	L	0.29908	0.895	0.26615	N	0.972753	B	0.06786	0.001	B	0.01281	0.0	T	0.46541	-0.9184	9	0.87932	D	0	.	4.5339	0.12019	0.0:0.6472:0.0:0.3528	.	58	O14633	LCE2B_HUMAN	L	58	ENSP00000414043:P58L;ENSP00000357769:P58L	ENSP00000357769:P58L	P	+	2	0	LCE2B	150926116	0.030000	0.19436	0.139000	0.22197	0.053000	0.15095	0.161000	0.16481	-0.140000	0.11394	0.313000	0.20887	CCC	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034524.1		+	ENST00000368780.3	Missense_Mutation	SNP	1 : 152659492 - 152659492 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	1071	39
LPA	4018	broad.mit.edu	37	6	161020531	161020531	+	Splice_Site	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:161020531C>T	ENST00000316300.5	-	20	3332		c.e20+1		LPA_ENST00000447678.1_Splice_Site			P08519	APOA_HUMAN	lipoprotein, Lp(a)	NA					blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAAAGACGTACGCATTTGGGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													287	311	303			NA	NA	6		NA											NA				161020531		2200	4299	6499	SO:0001630	splice_region_variant			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670	4018	4018			6667	protein-coding gene	gene with protein product		152200		LP	NA	3670400	Standard	NM_005577	NM_005577	NA	Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3287+1G>A	6.37:g.161020531C>T		NA	Q5VTD7|Q9UD88	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446431	0.25987	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.48	2.48	0.30137	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4117	0.32646	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LPA	160940521	1.000000	0.71417	0.930000	0.37139	0.007000	0.05969	3.793000	0.55484	1.361000	0.45981	0.436000	0.28706	.	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042957.1	Intron	-	ENST00000316300.5	Splice_Site	SNP	6 : 161020531 - 161020531 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	1686	56
LPHN2	23266	broad.mit.edu	37	1	82372825	82372825	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:82372825G>A	ENST00000370728.1	+	6	842	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	LPHN2_ENST00000394879.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.R66Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370713.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000319517.6_Missense_Mutation_p.R66Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.R66Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.R66Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.R66Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.R66Q			O95490	LPHN2_HUMAN	latrophilin 2	66	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AACTATGGTCGGACGGATGAC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	154	159			NA	NA	1		NA											NA				82372825		2203	4300	6503	SO:0001583	missense			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114	23266	23266		-, GPCR / Class B : Orphans	18582	protein-coding gene	gene with protein product		607018	latrophilin 1	LPHH1	NA	10760572	Standard	NM_012302	XR_248786	NA	Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.197G>A	1.37:g.82372825G>A	ENSP00000359763:p.Arg66Gln	NA	B1ALT8|B1ALT9|B1ALU0|O94882|Q5VX76|Q9UKY5|Q9UKY6	37		.	.	.	.	.	.	.	.	.	.	G	36	5.681143	0.96774	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000001	T	0.52306	0.1726	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;1.0	T	0.65709	-0.6102	10	0.87932	D	0	.	18.8804	0.92353	0.0:0.0:1.0:0.0	.	66;66;66;66	O95490-3;O95490-4;O95490-2;B3KVU1	.;.;.;.	Q	66	ENSP00000359756:R66Q;ENSP00000359763:R66Q;ENSP00000359765:R66Q;ENSP00000359762:R66Q;ENSP00000359760:R66Q;ENSP00000359758:R66Q;ENSP00000353006:R66Q;ENSP00000359750:R66Q;ENSP00000359748:R66Q;ENSP00000322270:R66Q;ENSP00000359752:R66Q;ENSP00000378344:R66Q;ENSP00000271029:R66Q;ENSP00000337306:R66Q	ENSP00000271029:R66Q	R	+	2	0	LPHN2	82145413	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.695000	0.98691	2.527000	0.85204	0.557000	0.71058	CGG	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000027188.1		+	ENST00000370728.1	Missense_Mutation	SNP	1 : 82372825 - 82372825 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	510	16
LRFN2	57497	broad.mit.edu	37	6	40359728	40359728	+	Missense_Mutation	SNP	C	C	T	rs146316351	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:40359728C>T	ENST00000338305.6	-	3	2866	c.2324G>A	c.(2323-2325)cGg>cAg	p.R775Q		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	775						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAAAGTCCCCCGGGCCCCCAC	0.607		NA											C	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	2e-04	NA	NA	NA	5e-04	0.9049	EXOME	NA	NA	2e-04	SNP								NA				0								C	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	42	44	44		2324	4.4	1	6	dbSNP_134	44	0,8600		0,0,4300	yes	missense	LRFN2	NM_020737.1	43	0,4,6499	TT,TC,CC	NA	0.0,0.0908,0.0308	benign	775/790	40359728	4,13002	2203	4300	6503	SO:0001583	missense			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564	57497	57497		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	21226	protein-coding gene	gene with protein product	fibronectin type III, immunoglobulin and leucine rich repeat domains 2	612808	KIAA1246	KIAA1246, SALM1	NA	16495444, 16828986	Standard	XM_166372	NM_020737	NA	Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.2324G>A	6.37:g.40359728C>T	ENSP00000345985:p.Arg775Gln	NA	A5PKU3|Q5SYP9	37	CCDS34443.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.74	1.728986	0.30684	9.08E-4	0.0	ENSG00000156564	ENST00000338305	T	0.58060	0.36	5.27	4.39	0.52855	.	0.100654	0.64402	D	0.000004	T	0.13030	0.0316	N	0.14661	0.345	0.22489	N	0.999054	B	0.33857	0.429	B	0.20184	0.028	T	0.02471	-1.1154	10	0.44086	T	0.13	.	6.092	0.19999	0.0:0.7541:0.0:0.2459	.	775	Q9ULH4	LRFN2_HUMAN	Q	775	ENSP00000345985:R775Q	ENSP00000345985:R775Q	R	-	2	0	LRFN2	40467706	0.997000	0.39634	0.964000	0.40570	0.675000	0.39556	2.529000	0.45632	2.466000	0.83321	0.555000	0.69702	CGG	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040488.1		-	ENST00000338305.6	Missense_Mutation	SNP	6 : 40359728 - 40359728 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	226	6
MOK	5891	broad.mit.edu	37	14	102749891	102749891	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr14:102749891A>T	ENST00000361847.2	-	2	277	c.46T>A	c.(46-48)Tct>Act	p.S16T	MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.S16T|MOK_ENST00000524214.1_Missense_Mutation_p.S16T	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	16	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding				NA						ATAACTTCAGAAAACGTTCCC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	173	178			NA	NA	14		NA											NA				102749891		2203	4299	6502	SO:0001583	missense			AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823	5891	5891			9833	protein-coding gene	gene with protein product		605762	renal tumor antigen	RAGE	NA	8781117, 10421840	Standard		NM_014226	NA	Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.46T>A	14.37:g.102749891A>T	ENSP00000355304:p.Ser16Thr	NA	Q92790|Q93067	37	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582045	0.86748	.	.	ENSG00000080823	ENST00000522874;ENST00000361847;ENST00000524214	T;T;T	0.49139	0.79;0.79;0.79	5.19	5.19	0.71726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.67202	0.2868	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.70612	-0.4824	10	0.62326	D	0.03	-10.4056	14.0486	0.64719	1.0:0.0:0.0:0.0	.	16;16	E7ERR8;Q9UQ07	.;MOK_HUMAN	T	16	ENSP00000429469:S16T;ENSP00000355304:S16T;ENSP00000428942:S16T	ENSP00000355304:S16T	S	-	1	0	RAGE	101819644	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.750000	0.85110	1.967000	0.57214	0.459000	0.35465	TCT	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380848.3		-	ENST00000361847.2	Missense_Mutation	SNP	14 : 102749891 - 102749891 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	403	21
MUC16	94025	broad.mit.edu	37	19	9056276	9056276	+	Silent	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:9056276C>T	ENST00000397910.4	-	3	31373	c.31170G>A	c.(31168-31170)agG>agA	p.R10390R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10392	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGAAGATGTCCTGCCTGGTT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	186	186			NA	NA	19		NA											NA				9056276		2067	4218	6285	SO:0001819	synonymous_variant			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143	94025	94025		Mucins	15582	protein-coding gene	gene with protein product		606154			NA	11369781	Standard	NM_024690	XM_006722941	NA	Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31170G>A	19.37:g.9056276C>T		NA	Q6ZQW5|Q96RK2	37	CCDS54212.1																																																																																			MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Silent	SNP	19 : 9056276 - 9056276 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	687	26
MXRA5	25878	broad.mit.edu	37	X	3239037	3239037	+	Silent	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:3239037G>A	ENST00000217939.6	-	5	4843	c.4689C>T	c.(4687-4689)tcC>tcT	p.S1563S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1563						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CATCCTGGTCGGAAGAGGGTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													228	201	210			NA	NA	X		NA											NA				3239037		2203	4300	6503	SO:0001819	synonymous_variant			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825	25878	25878		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	7539	protein-coding gene	gene with protein product	adlican				NA	12101425	Standard	NM_015419	NM_015419	NA	Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4689C>T	X.37:g.3239037G>A		NA	Q6P1M7|Q9Y3Y8	37	CCDS14124.1																																																																																			MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055655.2		-	ENST00000217939.6	Silent	SNP	X : 3239037 - 3239037 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	509	28
MYO18B	84700	broad.mit.edu	37	22	26423121	26423121	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr22:26423121C>T	ENST00000407587.2	+	43	7353	c.7184C>T	c.(7183-7185)gCg>gTg	p.A2395V	MYO18B_ENST00000536101.1_Missense_Mutation_p.A2394V|MYO18B_ENST00000335473.7_Missense_Mutation_p.A2394V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2394			G -> A (in dbSNP:rs6004901).			nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTGGACGATGCGGGCTGTCCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	0,3954		0,0,1977	66	72	70		7181	0.5	0	22		70	1,8283		0,1,4141	no	missense	MYO18B	NM_032608.5	64	0,1,6118	TT,TC,CC	NA	0.0121,0.0,0.0082	benign	2394/2568	26423121	1,12237	1977	4142	6119	SO:0001583	missense			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454	84700	84700		Myosins / Myosin superfamily : Class XVIII	18150	protein-coding gene	gene with protein product		607295			NA	12209013, 12547197	Standard	NM_032608	NM_032608	NA	Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7184C>T	22.37:g.26423121C>T	ENSP00000386096:p.Ala2395Val	NA	B2RWP3|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.414|4.414	0.076583|0.076583	0.08485|0.08485	0.0|0.0	1.21E-4|1.21E-4	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.86769|.	-2.15;-2.15;-2.17|.	5.12|5.12	0.465|0.465	0.16711|0.16711	.|.	0.612932|.	0.14443|.	N|.	0.319248|.	T|T	0.40815|0.40815	0.1132|0.1132	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.32968|.	0.266;0.272;0.272;0.392;0.392|.	B;B;B;B;B|.	0.21151|.	0.033;0.015;0.015;0.033;0.033|.	T|T	0.33343|0.33343	-0.9872|-0.9872	10|5	0.51188|.	T|.	0.08|.	.|.	5.895|5.895	0.18935|0.18935	0.1315:0.6423:0.0:0.2262|0.1315:0.6423:0.0:0.2262	.|.	1907;2396;2394;2395;2394|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	V|W	2394;2394;2395|344	ENSP00000441229:A2394V;ENSP00000334563:A2394V;ENSP00000386096:A2395V|.	ENSP00000334563:A2394V|.	A|R	+|+	2|1	0|2	MYO18B|MYO18B	24753121|24753121	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.006000|0.006000	0.05464|0.05464	-0.144000|-0.144000	0.10280|0.10280	0.180000|0.180000	0.19960|0.19960	-0.969000|-0.969000	0.02612|0.02612	GCG|CGG	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400691.1		+	ENST00000407587.2	Missense_Mutation	SNP	22 : 26423121 - 26423121 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	356	16
NMBR	4829	broad.mit.edu	37	6	142409703	142409703	+	Silent	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:142409703C>T	ENST00000258042.1	-	1	233	c.93G>A	c.(91-93)ccG>ccA	p.P31P	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	31					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CGTCCGAGGCCGGCAGGAAAT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	45	46			NA	NA	6		NA											NA				142409703		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577	4829	4829		GPCR / Class A : Bombesin receptors	7843	protein-coding gene	gene with protein product	bombesin receptor 1	162341			NA		Standard		NM_002511	NA	Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.93G>A	6.37:g.142409703C>T		NA	Q5VUK8	37	CCDS5196.1																																																																																			NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042479.1		-	ENST00000258042.1	Silent	SNP	6 : 142409703 - 142409703 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	172	4
NOBOX	135935	broad.mit.edu	37	7	144097345	144097345	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:144097345C>T	ENST00000467773.1	-	5	904	c.905G>A	c.(904-906)cGc>cAc	p.R302H	NOBOX_ENST00000223140.5_Missense_Mutation_p.R217H|NOBOX_ENST00000483238.1_Missense_Mutation_p.R302H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	302					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AATCTCTCGGCGTTTATCACT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	80	83			NA	NA	7		NA											NA				144097345		1892	4124	6016	SO:0001583	missense					7q35	2011-06-20			ENSG00000106410	ENSG00000106410	135935	135935		Homeoboxes / PRD class	22448	protein-coding gene	gene with protein product	newborn ovary homeobox-encoding gene	610934			NA	11804785, 16597639	Standard	XM_001134420	NM_001080413	NA	Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.905G>A	7.37:g.144097345C>T	ENSP00000419457:p.Arg302His	NA	A6NCD3|A8MZN5	37		.	.	.	.	.	.	.	.	.	.	C	19.76	3.888183	0.72524	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.97505	-4.41;-4.41;-4.41	5.79	4.91	0.64330	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.139728	0.38778	N	0.001576	D	0.99010	0.9662	H	0.98111	4.15	0.36943	D	0.892459	D	0.89917	1.0	D	0.97110	1.0	D	0.99947	1.1488	10	0.87932	D	0	-29.743	12.7537	0.57321	0.0:0.9207:0.0:0.0793	.	302	O60393	NOBOX_HUMAN	H	302;302;217;91	ENSP00000419565:R302H;ENSP00000419457:R302H;ENSP00000223140:R217H	ENSP00000223140:R217H	R	-	2	0	NOBOX	143728278	1.000000	0.71417	0.745000	0.31077	0.663000	0.39108	5.277000	0.65586	1.450000	0.47717	0.650000	0.86243	CGC	NOBOX-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000350095.1		-	ENST00000467773.1	Missense_Mutation	SNP	7 : 144097345 - 144097345 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	261	10
NRK	203447	broad.mit.edu	37	X	105167200	105167200	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:105167200C>T	ENST00000243300.9	+	18	3004	c.2701C>T	c.(2701-2703)Cgg>Tgg	p.R901W	NRK_ENST00000428173.2_Missense_Mutation_p.R902W	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	901							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TGAAATCTTCCGGAATGATTG	0.438		NA								HNSCC(51;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									TRP/ARG	1,3319		0,1,1374,570	92	86	88		2701	1.8	1	X		88	0,6467		0,0,2335,1797	no	missense	NRK	NM_198465.2	101	0,1,3709,2367	TT,TC,CC,C	NA	0.0,0.0301,0.0102	benign	901/1583	105167200	1,9786	1945	4132	6077	SO:0001583	missense			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572	203447	203447			25391	protein-coding gene	gene with protein product		300791			NA		Standard	NM_198465	NM_198465	NA	Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2701C>T	X.37:g.105167200C>T	ENSP00000434830:p.Arg901Trp	NA	Q32ND6|Q5H9K2|Q6ZMP2	37		.	.	.	.	.	.	.	.	.	.	c	9.801	1.180645	0.21787	3.01E-4	0.0	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.76709	-1.03;-1.04	3.58	1.77	0.24775	.	0.531001	0.14438	N	0.319547	T	0.56455	0.1986	N	0.12182	0.205	0.80722	D	1	B;B	0.17465	0.022;0.005	B;B	0.09377	0.004;0.001	T	0.46541	-0.9184	10	0.49607	T	0.09	.	5.109	0.14800	0.0:0.7318:0.0:0.2682	.	569;901	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	W	901;902	ENSP00000434830:R901W;ENSP00000438378:R902W	ENSP00000434830:R901W	R	+	1	2	NRK	105053856	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.938000	0.28965	0.336000	0.23639	0.597000	0.82753	CGG	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000106480.6		+	ENST00000243300.9	Missense_Mutation	SNP	X : 105167200 - 105167200 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	253	18
OFD1	8481	broad.mit.edu	37	X	13778776	13778776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:13778776C>T	ENST00000380567.1	+	17	2649	c.1777C>T	c.(1777-1779)Cgc>Tgc	p.R593C	OFD1_ENST00000380550.3_Missense_Mutation_p.R693C|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Missense_Mutation_p.R733C			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	733					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TTCCTCCAGACGCCTCTCTTC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	40	39			NA	NA	X		NA											NA				13778776		2203	4298	6501	SO:0001583	missense			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651	8481	8481			2567	protein-coding gene	gene with protein product		300170	retinitis pigmentosa 23 (X-linked recessive)	CXorf5, RP23	NA	9722947, 9215688, 22619378	Standard	NM_003611	NM_003611	NA	Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000380567.1:c.1777C>T	X.37:g.13778776C>T	ENSP00000369941:p.Arg593Cys	NA	B9ZVU5|O75666|Q4VAK4	37		.	.	.	.	.	.	.	.	.	.	C	12.30	1.895886	0.33442	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.96802	-4.13;-4.1;-1.96	5.4	3.62	0.41486	.	0.544069	0.19617	N	0.109994	D	0.92672	0.7671	M	0.62723	1.935	0.24464	N	0.994429	P;P;P;B;P	0.41546	0.647;0.647;0.754;0.238;0.647	B;B;B;B;B	0.31337	0.091;0.091;0.128;0.04;0.091	D	0.86025	0.1509	10	0.51188	T	0.08	-0.794	7.0936	0.25297	0.0:0.7013:0.1382:0.1605	.	733;693;401;593;733	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	C	693;733;593	ENSP00000369923:R693C;ENSP00000344314:R733C;ENSP00000369941:R593C	ENSP00000344314:R733C	R	+	1	0	OFD1	13688697	0.340000	0.24792	0.135000	0.22099	0.844000	0.47949	0.699000	0.25586	0.473000	0.27368	0.529000	0.55759	CGC	OFD1-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000055809.1		+	ENST00000380567.1	Missense_Mutation	SNP	X : 13778776 - 13778776 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	207	12
OTOF	9381	broad.mit.edu	37	2	26703112	26703112	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:26703112C>T	ENST00000272371.2	-	16	1997	c.1871G>A	c.(1870-1872)cGg>cAg	p.R624Q	OTOF_ENST00000403946.3_Missense_Mutation_p.R624Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	624					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.R624L(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCGTTTCTCCGGTCGATCAT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(102;732 1451 20652 24062 31372)							NA				1	Substitution - Missense(1)	large_intestine(1)											98	96	97			NA	NA	2		NA											NA				26703112		2203	4300	6503	SO:0001583	missense			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155	9381	9381			8515	protein-coding gene	gene with protein product	fer-1-like family member 2	603681		DFNB9	NA	10192385, 18381613	Standard		NM_194248	NA	Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1871G>A	2.37:g.26703112C>T	ENSP00000272371:p.Arg624Gln	NA	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377006	0.82682	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	D;D	0.82255	-1.59;-1.59	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.91496	0.7315	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91054	0.4880	10	0.34782	T	0.22	-26.7423	17.5382	0.87840	0.0:1.0:0.0:0.0	.	624	Q9HC10	OTOF_HUMAN	Q	624	ENSP00000272371:R624Q;ENSP00000385255:R624Q	ENSP00000272371:R624Q	R	-	2	0	OTOF	26556616	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	7.698000	0.84413	2.315000	0.78130	0.561000	0.74099	CGG	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214047.3		-	ENST00000272371.2	Missense_Mutation	SNP	2 : 26703112 - 26703112 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	319	10
PAPOLB	56903	broad.mit.edu	37	7	4899881	4899881	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:4899881C>T	ENST00000404991.1	-	1	1744	c.1558G>A	c.(1558-1560)Gac>Aac	p.D520N	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	520					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAGCTGCTGTCGTTCAAATCT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	82	84			NA	NA	7		NA											NA				4899881		1989	4207	6196	SO:0001583	missense			AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	56903	56903	2.7.7.19		15970	protein-coding gene	gene with protein product		607436			NA	11150526	Standard	NM_020144	NM_020144	NA	Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1558G>A	7.37:g.4899881C>T	ENSP00000384700:p.Asp520Asn	NA	Q75LH1|Q8NE14	37		.	.	.	.	.	.	.	.	.	.	C	4.337	0.061936	0.08339	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	T	0.49609	0.1567	L	0.34521	1.04	0.52501	D	0.999953	B	0.10296	0.003	B	0.09377	0.004	T	0.39057	-0.9632	8	0.17369	T	0.5	.	14.9342	0.70941	0.0:1.0:0.0:0.0	.	521	A4D1Z6	.	N	520	.	ENSP00000384700:D520N	D	-	1	0	PAPOLB	4866407	1.000000	0.71417	0.119000	0.21687	0.038000	0.13279	6.480000	0.73604	2.662000	0.90505	0.591000	0.81541	GAC	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000323797.1		-	ENST00000404991.1	Missense_Mutation	SNP	7 : 4899881 - 4899881 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	376	17
PAPPA2	60676	broad.mit.edu	37	1	176640105	176640105	+	Splice_Site	SNP	G	G	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:176640105G>T	ENST00000367662.3	+	4	3155		c.e4-1		PAPPA2_ENST00000367661.3_Splice_Site	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	NA					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATGCTCTCTAGGGCATACATG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	165	166			NA	NA	1		NA											NA				176640105		1967	4159	6126	SO:0001630	splice_region_variant			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183	60676	60676			14615	protein-coding gene	gene with protein product			placenta-specific 3	PLAC3	NA	11018262, 11264294	Standard		NM_021936	NA	Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1992-1G>T	1.37:g.176640105G>T		NA	Q96PH7|Q96PH8|Q9H4C9	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567297	0.86439	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7796	0.91926	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAPPA2	174906728	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.613000	0.98350	2.509000	0.84616	0.655000	0.94253	.	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084763.1	Intron	+	ENST00000367662.3	Splice_Site	SNP	1 : 176640105 - 176640105 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	804	20
PCDHA2	56146	broad.mit.edu	37	5	140176604	140176604	+	Silent	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:140176604C>T	ENST00000520672.2	+	1	2161	c.2055C>T	c.(2053-2055)ggC>ggT	p.G685G	PCDHA2_ENST00000378132.1_Silent_p.G685G|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Silent_p.G685G	NM_031496.1	NP_113684.1			protocadherin alpha 2	NA										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGGTGGGCGCCGCGGGCT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	75	74			NA	NA	5		NA											NA				140176604		2203	4299	6502	SO:0001819	synonymous_variant			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969	56146	56146		Cadherins / Protocadherins : Clustered	8668	other	complex locus constituent	KIAA0345-like 12	606308			NA	10380929	Standard	NM_018905	NM_018905	NA	Approved			Q9Y5H9		ENST00000520672.2:c.2055C>T	5.37:g.140176604C>T		NA		37																																																																																				PCDHA2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000374265.2		+	ENST00000520672.2	Silent	SNP	5 : 140176604 - 140176604 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	482	15
PCDHA2	56146	broad.mit.edu	37	5	140176666	140176666	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:140176666C>T	ENST00000520672.2	+	1	2223	c.2117C>T	c.(2116-2118)gCg>gTg	p.A706V	PCDHA2_ENST00000378132.1_Missense_Mutation_p.A706V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Missense_Mutation_p.A706V	NM_031496.1	NP_113684.1			protocadherin alpha 2	NA								p.A706V(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCATCTGCGCGGTATCCAGC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	breast(2)											86	84	85			NA	NA	5		NA											NA				140176666		2203	4300	6503	SO:0001583	missense			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969	56146	56146		Cadherins / Protocadherins : Clustered	8668	other	complex locus constituent	KIAA0345-like 12	606308			NA	10380929	Standard	NM_018905	NM_018905	NA	Approved			Q9Y5H9		ENST00000520672.2:c.2117C>T	5.37:g.140176666C>T	ENSP00000430584:p.Ala706Val	NA		37		.	.	.	.	.	.	.	.	.	.	c	16.54	3.150943	0.57151	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.80033	-1.33;-1.33;-1.33	4.0	3.1	0.35709	.	0.207607	0.22950	U	0.053675	D	0.82426	0.5034	M	0.93462	3.42	0.23879	N	0.99658	P;B;P	0.35456	0.502;0.027;0.502	B;B;B	0.33750	0.169;0.008;0.169	T	0.75769	-0.3201	10	0.49607	T	0.09	.	7.6207	0.28183	0.0:0.7431:0.1674:0.0895	.	706;706;706	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	V	706	ENSP00000430584:A706V;ENSP00000367372:A706V;ENSP00000431748:A706V	ENSP00000367372:A706V	A	+	2	0	PCDHA2	140156850	0.000000	0.05858	0.993000	0.49108	0.912000	0.54170	1.011000	0.29911	0.773000	0.33404	0.585000	0.79938	GCG	PCDHA2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000374265.2		+	ENST00000520672.2	Missense_Mutation	SNP	5 : 140176666 - 140176666 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	530	17
PCDHB5	26167	broad.mit.edu	37	5	140516722	140516722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:140516722C>T	ENST00000231134.5	+	1	1923	c.1706C>T	c.(1705-1707)gCg>gTg	p.A569V		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	569	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACGGCTCGGCGCCTTGCACC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	26	24			NA	NA	5		NA											NA				140516722		2195	4284	6479	SO:0001583	missense			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209	26167	26167		Cadherins / Protocadherins : Clustered	8690	other	protocadherin		606331			NA	10380929	Standard	NM_015669	NM_015669	NA	Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1706C>T	5.37:g.140516722C>T	ENSP00000231134:p.Ala569Val	NA	Q549F4|Q9UFU9	37	CCDS4247.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.96|10.96	1.499565|1.499565	0.26861|0.26861	.|.	.|.	ENSG00000113209|ENSG00000113209	ENST00000231134|ENST00000537936	T|.	0.60299|.	0.2|.	4.48|4.48	4.48|4.48	0.54585|0.54585	Cadherin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.53286|0.53286	0.1787|0.1787	L|L	0.51422|0.51422	1.61|1.61	0.31007|0.31007	N|N	0.719717|0.719717	B|.	0.27068|.	0.167|.	B|.	0.24269|.	0.052|.	T|T	0.60541|0.60541	-0.7243|-0.7243	9|6	0.62326|0.87932	D|D	0.03|0	.|.	12.394|12.394	0.55374|0.55374	0.215:0.785:0.0:0.0|0.215:0.785:0.0:0.0	.|.	569|.	Q9Y5E4|.	PCDB5_HUMAN|.	V|C	569|353	ENSP00000231134:A569V|.	ENSP00000231134:A569V|ENSP00000446220:R353C	A|R	+|+	2|1	0|0	PCDHB5|PCDHB5	140496906|140496906	0.000000|0.000000	0.05858|0.05858	0.971000|0.971000	0.41717|0.41717	0.062000|0.062000	0.15995|0.15995	0.396000|0.396000	0.20867|0.20867	2.214000|2.214000	0.71695|0.71695	0.194000|0.194000	0.17425|0.17425	GCG|CGC	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251811.1		+	ENST00000231134.5	Missense_Mutation	SNP	5 : 140516722 - 140516722 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	311	11
PIGO	84720	broad.mit.edu	37	9	35092197	35092197	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr9:35092197C>G	ENST00000378617.3	-	7	2081	c.1687G>C	c.(1687-1689)Gat>Cat	p.D563H	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.D563H|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	563					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACAAAACTATCAGAGAAGAAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	56	55			NA	NA	9		NA											NA				35092197		2203	4300	6503	SO:0001583	missense			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282	84720	84720		Phosphatidylinositol glycan anchor biosynthesis	23215	protein-coding gene	gene with protein product		614730	phosphatidylinositol glycan, class O		NA	10781593	Standard	NM_032634	NM_032634	NA	Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1687G>C	9.37:g.35092197C>G	ENSP00000367880:p.Asp563His	NA	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	37	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485923	0.63962	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.56444	0.46;0.46	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.72415	0.3457	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.73461	-0.3975	10	0.87932	D	0	-16.9008	19.6982	0.96039	0.0:1.0:0.0:0.0	.	563	Q8TEQ8	PIGO_HUMAN	H	563	ENSP00000367880:D563H;ENSP00000339382:D563H	ENSP00000339382:D563H	D	-	1	0	PIGO	35082197	0.998000	0.40836	1.000000	0.80357	0.972000	0.66771	3.975000	0.56859	2.894000	0.99253	0.655000	0.94253	GAT	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052284.1		-	ENST00000378617.3	Missense_Mutation	SNP	9 : 35092197 - 35092197 G PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	301	16
PIGO	84720	broad.mit.edu	37	9	35092359	35092359	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr9:35092359C>G	ENST00000378617.3	-	7	1919	c.1525G>C	c.(1525-1527)Gat>Cat	p.D509H	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.D509H|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	509					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGCACTAGATCTAGCTTCAGC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	56	55			NA	NA	9		NA											NA				35092359		2203	4300	6503	SO:0001583	missense			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282	84720	84720		Phosphatidylinositol glycan anchor biosynthesis	23215	protein-coding gene	gene with protein product		614730	phosphatidylinositol glycan, class O		NA	10781593	Standard	NM_032634	NM_032634	NA	Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1525G>C	9.37:g.35092359C>G	ENSP00000367880:p.Asp509His	NA	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	37	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994626	0.54041	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.56103	0.48;0.48	5.38	5.38	0.77491	.	0.324049	0.36740	N	0.002440	T	0.59238	0.2179	L	0.59436	1.845	0.80722	D	1	D	0.53151	0.958	P	0.50791	0.65	T	0.51616	-0.8683	10	0.15066	T	0.55	-3.8987	19.3311	0.94288	0.0:1.0:0.0:0.0	.	509	Q8TEQ8	PIGO_HUMAN	H	509	ENSP00000367880:D509H;ENSP00000339382:D509H	ENSP00000339382:D509H	D	-	1	0	PIGO	35082359	1.000000	0.71417	0.706000	0.30403	0.701000	0.40568	6.553000	0.73918	2.813000	0.96785	0.655000	0.94253	GAT	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052284.1		-	ENST00000378617.3	Missense_Mutation	SNP	9 : 35092359 - 35092359 G PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	449	29
PITPNC1	26207	broad.mit.edu	37	17	65688807	65688807	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr17:65688807G>A	ENST00000581322.1	+	9	802	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000335257.6_Missense_Mutation_p.V268I			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	268					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	p.V268I(2)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GCCTTCTTCCGTCCGCAGTGC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	prostate(1)|lung(1)											121	127	125			NA	NA	17		NA											NA				65688807		1991	4162	6153	SO:0001583	missense			AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05					26207	26207			21045	protein-coding gene	gene with protein product		605134			NA	10531358	Standard	NM_012417	NM_012417	NA	Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.802G>A	17.37:g.65688807G>A	ENSP00000464006:p.Val268Ile	NA	Q96I07	37	CCDS58588.1	.	.	.	.	.	.	.	.	.	.	G	8.254	0.809691	0.16537	.	.	ENSG00000154217	ENST00000335257	T	0.44083	0.93	5.75	3.59	0.41128	.	0.222920	0.47455	D	0.000223	T	0.16811	0.0404	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05257	-1.0896	10	0.34782	T	0.22	-1.2887	4.3035	0.10935	0.3704:0.0:0.6296:0.0	.	268	Q9UKF7	PITC1_HUMAN	I	268	ENSP00000335618:V268I	ENSP00000335618:V268I	V	+	1	0	PITPNC1	63119269	1.000000	0.71417	0.882000	0.34594	0.097000	0.18754	4.034000	0.57289	1.451000	0.47736	-0.136000	0.14681	GTC	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447194.1		+	ENST00000581322.1	Missense_Mutation	SNP	17 : 65688807 - 65688807 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	492	17
PPAPDC1A	196051	broad.mit.edu	37	10	122334762	122334762	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr10:122334762G>A	ENST00000369073.3	+	6	535	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000398250.1_Missense_Mutation_p.A189T|PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.A126T|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.A189T			Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	189					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CTTGTACTGCGCCATGATGAT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	83	83			NA	NA	10		NA											NA				122334762		2137	4242	6379	SO:0001583	missense			AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805	196051	196051			23531	protein-coding gene	gene with protein product			phosphatidic acid phosphatase type 2 domain containing 1	PPAPDC1	NA		Standard	XM_113641	XM_005269592	NA	Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000369073.3:c.535G>A	10.37:g.122334762G>A	ENSP00000358069:p.Ala179Thr	NA	A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	37		.	.	.	.	.	.	.	.	.	.	G	36	5.703959	0.96812	.	.	ENSG00000203805	ENST00000439221;ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;D;D;D;D	0.82619	-1.34;-1.63;-1.63;-1.63;-1.63	5.76	5.76	0.90799	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93638	0.7968	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.994	D	0.94162	0.7415	10	0.62326	D	0.03	-16.6314	19.9694	0.97278	0.0:0.0:1.0:0.0	.	189;126;189	B7Z3R3;Q5VZY2-2;Q5VZY2	.;.;PPC1A_HUMAN	T	126;189;189;189;179	ENSP00000403508:A126T;ENSP00000381302:A189T;ENSP00000407979:A189T;ENSP00000440493:A189T;ENSP00000358069:A179T	ENSP00000358069:A179T	A	+	1	0	PPAPDC1A	122324752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.785000	0.99042	2.719000	0.93026	0.655000	0.94253	GCC	PPAPDC1A-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000050701.1		+	ENST00000369073.3	Missense_Mutation	SNP	10 : 122334762 - 122334762 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	365	15
PPP2R2B	5521	broad.mit.edu	37	5	145979904	145979904	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:145979904C>T	ENST00000394413.3	-	7	1480	c.910G>A	c.(910-912)Gtc>Atc	p.V304I	PPP2R2B_ENST00000394410.2_Missense_Mutation_p.V293I|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.V304I|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.V370I|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.V304I|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.V304I|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.V293I|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.V307I|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.V310I|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.V362I			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	304					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGACTTTGACGGTCAAGTAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	162	158	159		877,850,919,910,910,910,910	4	0.9	5		159	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	PPP2R2B	NM_181678.2,NM_181677.2,NM_181676.2,NM_181675.2,NM_181674.2,NM_004576.2,NM_001127381.1	29,29,29,29,29,29,29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	293/433,284/424,307/447,304/444,304/444,304/444,304/444	145979904	1,13005	2203	4300	6503	SO:0001583	missense			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	5521	5521	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits, WD repeat domain containing	9305	protein-coding gene	gene with protein product	PP2A subunit B isoform beta	604325	spinocerebellar ataxia 12, protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform, protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform	SCA12	NA	1849734, 10581021	Standard	NM_181678	NM_181674	NA	Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.910G>A	5.37:g.145979904C>T	ENSP00000377935:p.Val304Ile	NA	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8	37	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450488	0.63290	0.0	1.16E-4	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.8	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.058449	0.64402	D	0.000002	T	0.26412	0.0645	L	0.43152	1.355	0.80722	D	1	B;B;B;B;B;B	0.28998	0.23;0.063;0.036;0.23;0.119;0.036	B;B;B;B;B;B	0.23852	0.049;0.029;0.029;0.04;0.029;0.029	T	0.03784	-1.1004	10	0.52906	T	0.07	-6.6079	12.7697	0.57412	0.0:0.8663:0.0:0.1337	.	362;310;293;370;307;304	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	I	304;293;370;304;304;304;293;307;310;362	ENSP00000377935:V304I;ENSP00000431320:V293I;ENSP00000377936:V370I;ENSP00000377933:V304I;ENSP00000349283:V304I;ENSP00000398779:V304I;ENSP00000377932:V293I;ENSP00000336591:V307I;ENSP00000421396:V310I;ENSP00000377931:V362I	ENSP00000336591:V307I	V	-	1	0	AC011357.1	145960097	1.000000	0.71417	0.912000	0.35992	0.976000	0.68499	6.088000	0.71371	0.805000	0.34159	0.655000	0.94253	GTC	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251893.2		-	ENST00000394413.3	Missense_Mutation	SNP	5 : 145979904 - 145979904 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	496	15
RAET1G	353091	broad.mit.edu	37	6	150240886	150240886	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:150240886G>A	ENST00000367360.2	-	2	219	c.152C>T	c.(151-153)gCg>gTg	p.A51V	RAET1G_ENST00000479265.1_Missense_Mutation_p.A51V	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	retinoic acid early transcript 1G	51	MHC class I alpha-1 like.				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		GCCTTGAACCGCACACCACCG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	100	100			NA	NA	6		NA											NA				150240886		2203	4297	6500	SO:0001583	missense			AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722	353091	353091			16795	protein-coding gene	gene with protein product		609244	retinoic acid early transcript 1G pseudogene		NA	11827464, 15240696	Standard		NM_001001788	NA	Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.152C>T	6.37:g.150240886G>A	ENSP00000356329:p.Ala51Val	NA	Q6H3X2	37	CCDS43514.1	.	.	.	.	.	.	.	.	.	.	G	8.806	0.934055	0.18206	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.05382	3.45;3.45	2.4	-0.278	0.12894	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00608	0.0020	N	0.00621	-1.32	0.09310	N	1	B	0.20671	0.047	B	0.25140	0.058	T	0.46190	-0.9209	9	0.41790	T	0.15	.	6.668	0.23052	0.0:0.0:0.5193:0.4807	.	51	Q6H3X3	RET1G_HUMAN	V	51	ENSP00000356329:A51V;ENSP00000417503:A51V	ENSP00000356329:A51V	A	-	2	0	RAET1G	150282579	0.000000	0.05858	0.008000	0.14137	0.006000	0.05464	-0.722000	0.04958	-0.045000	0.13468	-0.558000	0.04189	GCG	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042668.2		-	ENST00000367360.2	Missense_Mutation	SNP	6 : 150240886 - 150240886 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	540	5
RBM12	10137	broad.mit.edu	37	20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317677.5_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	47	48			NA	NA	20		NA											NA				34241168		2199	4292	6491	SO:0001583	missense			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462	10137	10137		RNA binding motif (RRM) containing	9898	protein-coding gene	gene with protein product		607179			NA	11435693	Standard	NM_006047	NM_006047	NA	Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2077C>T	20.37:g.34241168G>A	ENSP00000363228:p.Pro693Ser	NA	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	37	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653504	0.96724	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.22336	1.96;1.96;1.96	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000018	T	0.27663	0.0680	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.02365	-1.1170	10	0.19590	T	0.45	-3.377	14.4866	0.67622	0.0:0.0:1.0:0.0	.	693	Q9NTZ6	RBM12_HUMAN	S	693;693;693;492	ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S	ENSP00000339879:P492S	P	-	1	0	RBM12	33704582	0.002000	0.14202	0.997000	0.53966	0.903000	0.53119	-0.160000	0.10041	2.528000	0.85240	0.563000	0.77884	CCC	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078894.1		-	ENST00000374114.3	Missense_Mutation	SNP	20 : 34241168 - 34241168 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	647	6
RELN	5649	broad.mit.edu	37	7	103629732	103629732	+	Silent	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:103629732G>A	ENST00000428762.1	-	1	231	c.72C>T	c.(70-72)cgC>cgT	p.R24R	RELN_ENST00000343529.5_Silent_p.R24R|RELN_ENST00000424685.2_Silent_p.R24R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	24					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGCCGCCGCGCGCGCCCTCA	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(146;835 1944 15585 22231 52158)							NA				0													18	21	20			NA	NA	7		NA											NA				103629732		2202	4298	6500	SO:0001819	synonymous_variant				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056	5649	5649			9957	protein-coding gene	gene with protein product		600514			NA	9049633	Standard	NM_005045	NM_005045	NA	Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.72C>T	7.37:g.103629732G>A		NA	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	37	CCDS47680.1																																																																																			RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348148.1		-	ENST00000428762.1	Silent	SNP	7 : 103629732 - 103629732 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	151	5
RNF213	57674	broad.mit.edu	37	17	78351573	78351573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr17:78351573G>A	ENST00000508628.2	+	55	13814	c.13669G>A	c.(13669-13671)Ggc>Agc	p.G4557S	RNF213_ENST00000582970.1_Missense_Mutation_p.G4508S|RNF213_ENST00000336301.6_Missense_Mutation_p.G2581S|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA			Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTGTCCCAACGGCCATCCTTG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													315	266	282			NA	NA	17		NA											NA				78351573		2203	4300	6503	SO:0001583	missense			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821	57674	57674		RING-type (C3HC4) zinc fingers	14539	protein-coding gene	gene with protein product		613768	chromosome 17 open reading frame 27, KIAA1618, moyamoya disease 2, Moyamoya disease 2	C17orf27, KIAA1618, MYMY2	NA	10997877, 21048783, 21799892	Standard	NM_020914	NM_020954	NA	Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000508628.2:c.13669G>A	17.37:g.78351573G>A	ENSP00000425956:p.Gly4557Ser	NA	Q69YK7|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406	37		.	.	.	.	.	.	.	.	.	.	G	32	5.113576	0.94339	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.55413	0.52	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.73281	0.3567	M	0.75777	2.31	0.44587	D	0.997552	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.987	T	0.76154	-0.3063	10	0.72032	D	0.01	.	17.3883	0.87423	0.0:0.0:1.0:0.0	.	4557;2581	C9JCP4;Q63HN8	.;RN213_HUMAN	S	4508;4557;2581	ENSP00000338218:G2581S	ENSP00000338218:G2581S	G	+	1	0	RNF213	75966168	0.997000	0.39634	0.349000	0.25694	0.985000	0.73830	5.094000	0.64523	2.529000	0.85273	0.655000	0.94253	GGC	RNF213-001	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364861.3		+	ENST00000508628.2	Missense_Mutation	SNP	17 : 78351573 - 78351573 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	827	59
RPS6KA6	27330	broad.mit.edu	37	X	83361395	83361395	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:83361395G>T	ENST00000262752.2	-	15	1350	c.1343C>A	c.(1342-1344)aCc>aAc	p.T448N	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.T448N	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	448	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTCCATGTTGGTAGTTGCATG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	95	106			NA	NA	X		NA											NA				83361395		2203	4300	6503	SO:0001583	missense			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133	27330	27330			10435	protein-coding gene	gene with protein product		300303	ribosomal protein S6 kinase, 90kD, polypeptide 6		NA	10644430	Standard	NM_014496	NM_014496	NA	Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1343C>A	X.37:g.83361395G>T	ENSP00000262752:p.Thr448Asn	NA	B2R854|Q6FHX2|Q8WX28|Q9H4S6	37	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032610	0.75504	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.45276	0.9;0.9	5.45	4.52	0.55395	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.220899	0.45867	N	0.000332	T	0.49372	0.1553	L	0.51422	1.61	0.53005	D	0.99996	B;B	0.29115	0.233;0.233	B;B	0.42771	0.397;0.345	T	0.51865	-0.8651	10	0.72032	D	0.01	.	14.4183	0.67165	0.0:0.0:0.8326:0.1674	.	448;448	B7ZL90;Q9UK32	.;KS6A6_HUMAN	N	448	ENSP00000262752:T448N;ENSP00000440830:T448N	ENSP00000262752:T448N	T	-	2	0	RPS6KA6	83248051	1.000000	0.71417	0.991000	0.47740	0.875000	0.50365	7.489000	0.81451	0.975000	0.38392	0.422000	0.28245	ACC	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057372.1		-	ENST00000262752.2	Missense_Mutation	SNP	X : 83361395 - 83361395 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	97	12
RYR1	6261	broad.mit.edu	37	19	38989876	38989876	+	Silent	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:38989876C>T	ENST00000355481.4	+	43	7151	c.7020C>T	c.(7018-7020)ttC>ttT	p.F2340F	RYR1_ENST00000360985.3_Silent_p.F2340F|RYR1_ENST00000359596.3_Silent_p.F2340F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2340	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TTGCTGTCTTCGTCAACGGTG	0.602		NA											C	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	0.9768	EXOME	NA	NA	4e-04	SNP								NA				0													90	69	76			NA	NA	19		NA											NA				38989876		2203	4300	6503	SO:0001819	synonymous_variant			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218	6261	6261		Ion channels / Ryanodine receptors	10483	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 137	180901	central core disease of muscle	MHS, MHS1, CCO	NA	1862346, 16621918	Standard		NM_000540	NA	Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000355481.4:c.7020C>T	19.37:g.38989876C>T		NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1																																																																																			RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2		+	ENST00000355481.4	Silent	SNP	19 : 38989876 - 38989876 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	432	12
RYR3	6263	broad.mit.edu	37	15	33858937	33858937	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr15:33858937G>A	ENST00000389232.4	+	12	1275	c.1205G>A	c.(1204-1206)cGt>cAt	p.R402H	RYR3_ENST00000415757.3_Missense_Mutation_p.R402H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	402					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGATGCCAGCGTGAGGAGTCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	182	181			NA	NA	15		NA											NA				33858937		2124	4240	6364	SO:0001583	missense				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1205G>A	15.37:g.33858937G>A	ENSP00000373884:p.Arg402His	NA	O15175|Q15412	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	7.760	0.705268	0.15172	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96554	-4.05;-4.05	4.58	-3.34	0.04943	.	0.429405	0.25050	N	0.033529	D	0.84547	0.5496	N	0.02286	-0.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.77117	-0.2706	10	0.34782	T	0.22	.	6.8124	0.23812	0.5544:0.0:0.3254:0.1202	.	402;402	Q15413-2;Q15413	.;RYR3_HUMAN	H	402	ENSP00000373884:R402H;ENSP00000399610:R402H	ENSP00000354735:R402H	R	+	2	0	RYR3	31646229	0.042000	0.20092	0.048000	0.18961	0.734000	0.41952	0.520000	0.22878	-0.521000	0.06426	-0.133000	0.14855	CGT	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Missense_Mutation	SNP	15 : 33858937 - 33858937 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	426	15
S100PBP	64766	broad.mit.edu	37	1	33291760	33291760	+	Silent	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:33291760C>T	ENST00000373475.5	+	3	314	c.60C>T	c.(58-60)gaC>gaT	p.D20D	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Silent_p.D20D|S100PBP_ENST00000398243.3_Silent_p.D20D	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	20						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGCCTAAAGACGGTGCCCCAT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	1,4405	2.1+/-5.4	0,1,2202	164	150	155		60,60	2.7	0.8	1		155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	S100PBP	NM_001017406.1,NM_022753.2	,	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	,	20/342,20/409	33291760	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497	64766	64766			25768	protein-coding gene	gene with protein product	S100P binding protein 1	611889			NA	12477932	Standard	NM_022753	NM_022753	NA	Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.60C>T	1.37:g.33291760C>T		NA	B3KR04|D3DPQ5|Q5HYH3|Q9H997	37	CCDS30666.1																																																																																			S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011266.1		+	ENST00000373475.5	Silent	SNP	1 : 33291760 - 33291760 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	484	5
SKP2	6502	broad.mit.edu	37	5	36168477	36168477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:36168477G>A	ENST00000274255.6	+	5	795	c.599G>A	c.(598-600)gGc>gAc	p.G200D	SKP2_ENST00000274254.5_Missense_Mutation_p.G200D|SKP2_ENST00000546211.1_Intron|SKP2_ENST00000508514.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	200					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.G200D(2)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCCTCCACGGCATACTGTCT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											212	213	212			NA	NA	5		NA											NA				36168477		2203	4300	6503	SO:0001583	missense			U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604	6502	6502		F-boxes / Leucine-rich repeats	10901	protein-coding gene	gene with protein product		601436	S-phase kinase-associated protein 2 (p45)		NA	8646875	Standard	NM_005983	NM_005983	NA	Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.599G>A	5.37:g.36168477G>A	ENSP00000274255:p.Gly200Asp	NA	A8K5E0|Q8TDZ0|Q8TDZ1|Q9BV69	37	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	G	1.650	-0.514246	0.04200	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927	T;T	0.41758	0.99;0.99	5.43	-0.0819	0.13701	.	0.441048	0.27185	N	0.020531	T	0.18299	0.0439	N	0.16098	0.37	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.002	T	0.20505	-1.0273	10	0.12103	T	0.63	-2.8353	5.5651	0.17167	0.3435:0.1319:0.5247:0.0	.	200;200	Q13309-2;Q13309	.;SKP2_HUMAN	D	200;200;166	ENSP00000274254:G200D;ENSP00000274255:G200D	ENSP00000274254:G200D	G	+	2	0	SKP2	36204234	0.662000	0.27439	0.015000	0.15790	0.449000	0.32228	0.249000	0.18216	-0.065000	0.13021	-0.251000	0.11542	GGC	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253769.2		+	ENST00000274255.6	Missense_Mutation	SNP	5 : 36168477 - 36168477 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	923	6
SLC35F4	341880	broad.mit.edu	37	14	58063541	58063541	+	Silent	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr14:58063541G>A	ENST00000554729.1	-	0	74				SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000339762.6_Silent_p.C25C					solute carrier family 35, member F4	NA										breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGATATACCGCAAAGCCCAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	82	82			NA	NA	14		NA											NA				58063541		2013	4188	6201	SO:0001623	5_prime_UTR_variant					14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812	341880	341880		Solute carriers	19845	protein-coding gene	gene with protein product			chromosome 14 open reading frame 36	C14orf36	NA		Standard	XM_292260	NM_001206920	NA	Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000554729.1:c.-288C>T	14.37:g.58063541G>A		NA		37																																																																																				SLC35F4-001	PUTATIVE	upstream_uORF|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412954.2		-	ENST00000554729.1	5'UTR	SNP	14 : 58063541 - 58063541 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	173	5
SLC6A2	6530	broad.mit.edu	37	16	55690874	55690874	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:55690874G>A	ENST00000379906.2	+	1	523	c.268G>A	c.(268-270)Ggc>Agc	p.G90S	SLC6A2_ENST00000568943.1_Missense_Mutation_p.G90S|SLC6A2_ENST00000566163.1_Missense_Mutation_p.G90S|SLC6A2_ENST00000219833.8_Missense_Mutation_p.G90S|SLC6A2_ENST00000414754.3_Missense_Mutation_p.G90S|SLC6A2_ENST00000561820.1_Missense_Mutation_p.G90S	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	90					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTACAAGAACGGCGGCGGTGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	74	72			NA	NA	16		NA											NA				55690874		2198	4300	6498	SO:0001583	missense				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546	6530	6530		Solute carriers	11048	protein-coding gene	gene with protein product	norepinephrine transporter	163970	solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	NET1, NAT1, SLC6A5	NA	2008212	Standard		NM_001043	NA	Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.268G>A	16.37:g.55690874G>A	ENSP00000369237:p.Gly90Ser	NA	B2R707	37	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879435	0.72294	.	.	ENSG00000103546	ENST00000414754;ENST00000379906;ENST00000219833	D;D;D	0.87491	-2.26;-2.26;-2.26	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.96775	0.8947	H	0.99169	4.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98465	1.0598	10	0.87932	D	0	.	19.2658	0.93984	0.0:0.0:1.0:0.0	.	90;90	Q96KH8;P23975	.;SC6A2_HUMAN	S	90	ENSP00000394956:G90S;ENSP00000369237:G90S;ENSP00000219833:G90S	ENSP00000219833:G90S	G	+	1	0	SLC6A2	54248375	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.728000	0.98792	2.620000	0.88729	0.563000	0.77884	GGC	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256922.2		+	ENST00000379906.2	Missense_Mutation	SNP	16 : 55690874 - 55690874 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	480	19
SLC7A14	57709	broad.mit.edu	37	3	170198388	170198388	+	Silent	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:170198388C>T	ENST00000231706.5	-	7	1998	c.1683G>A	c.(1681-1683)acG>acA	p.T561T	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	NA						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CCGTGTGCCCCGTCGCTGCTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	80	83			NA	NA	3		NA											NA				170198388		2203	4300	6503	SO:0001819	synonymous_variant			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293	57709	57709		Solute carriers	29326	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 142	615720			NA		Standard	NM_020949	NM_020949	NA	Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1683G>A	3.37:g.170198388C>T		NA	B3KV33|Q9HCF9	37	CCDS33892.1																																																																																			SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352598.2		-	ENST00000231706.5	Silent	SNP	3 : 170198388 - 170198388 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	334	5
SLITRK5	26050	broad.mit.edu	37	13	88328647	88328647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:88328647G>A	ENST00000325089.6	+	2	1223	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R94H	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	335						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AAGGGGACTCGCCAACCCAAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	69	67			NA	NA	13		NA											NA				88328647		2203	4300	6503	SO:0001583	missense			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300	26050	26050			20295	protein-coding gene	gene with protein product		609680	leucine rich repeat containing 11	LRRC11	NA	10048485, 14557068	Standard		NM_015567	NA	Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1004G>A	13.37:g.88328647G>A	ENSP00000366283:p.Arg335His	NA	B3KNB8|Q5VT81	37	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073303	0.76415	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59906	0.23;0.49	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71656	0.974;0.962	T	0.67511	-0.5652	9	.	.	.	-18.5332	17.6713	0.88218	0.0:0.0:1.0:0.0	.	94;335	B4DSH5;O94991	.;SLIK5_HUMAN	H	335;94	ENSP00000366283:R335H;ENSP00000442244:R94H	.	R	+	2	0	SLITRK5	87126648	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.832000	0.99423	2.771000	0.95319	0.561000	0.74099	CGC	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045416.3		+	ENST00000325089.6	Missense_Mutation	SNP	13 : 88328647 - 88328647 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	437	6
SMPDL3B	27293	broad.mit.edu	37	1	28261707	28261707	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:28261707G>C	ENST00000373894.3	+	1	204	c.13G>C	c.(13-15)Gcc>Ccc	p.A5P	SMPDL3B_ENST00000373888.4_Missense_Mutation_p.A5P|SMPDL3B_ENST00000466793.1_3'UTR|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.A5P	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	5					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GAGGCTGCTCGCCTGGCTGAT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	69	72			NA	NA	1		NA											NA				28261707		2203	4300	6503	SO:0001583	missense			Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768	27293	27293			21416	protein-coding gene	gene with protein product					NA		Standard	NM_014474	NM_014474	NA	Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.13G>C	1.37:g.28261707G>C	ENSP00000363001:p.Ala5Pro	NA	B7ZB35|Q5T0Z0|Q96CB7	37	CCDS30655.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051591	0.36181	.	.	ENSG00000130768	ENST00000373894;ENST00000373890;ENST00000411604;ENST00000373888;ENST00000549094;ENST00000412515	D;T;D;D	0.90004	-2.6;1.73;-2.6;-2.6	3.79	-6.63	0.01807	.	3.314520	0.01170	U	0.006848	T	0.80899	0.4712	L	0.39898	1.24	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.63800	-0.6555	10	0.41790	T	0.15	1.2634	3.014	0.06053	0.2355:0.1489:0.4691:0.1465	.	5;5;5	F8VWW8;Q92485;Q92485-2	.;ASM3B_HUMAN;.	P	5	ENSP00000363001:A5P;ENSP00000388092:A5P;ENSP00000362995:A5P;ENSP00000449450:A5P	ENSP00000362995:A5P	A	+	1	0	SMPDL3B	28134294	0.000000	0.05858	0.001000	0.08648	0.213000	0.24496	-1.654000	0.01984	-1.170000	0.02769	-1.336000	0.01259	GCC	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011170.1		+	ENST00000373894.3	Missense_Mutation	SNP	1 : 28261707 - 28261707 C PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	192	9
SPHKAP	80309	broad.mit.edu	37	2	228884216	228884216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:228884216C>T	ENST00000392056.3	-	7	1400	c.1354G>A	c.(1354-1356)Gtt>Att	p.V452I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V452I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	452						cytoplasm	protein binding	p.V452I(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCTGAACAACGACGATTTTG	0.507		NA											C	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	4e-04	0.8999	EXOME	NA	NA	3e-04	SNP								NA				2	Substitution - Missense(2)	endometrium(2)											99	97	98			NA	NA	2		NA											NA				228884216		2203	4300	6503	SO:0001583	missense				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820	80309	80309		A-kinase anchor proteins	30619	protein-coding gene	gene with protein product	sphingosine kinase type 1-interacting protein	611646			NA	12080051, 11214970	Standard	NM_030623	NM_030623	NA	Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1354G>A	2.37:g.228884216C>T	ENSP00000375909:p.Val452Ile	NA	Q68DA3|Q68DR8|Q9C0I5	37	CCDS46537.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.730	0.135652	0.09032	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.05717	3.41;3.4	6.03	2.42	0.29668	.	0.043547	0.85682	N	0.000000	T	0.01353	0.0044	N	0.00332	-1.63	0.23440	N	0.997673	B;B	0.17465	0.002;0.022	B;B	0.08055	0.0;0.003	T	0.47674	-0.9099	10	0.02654	T	1	.	8.9785	0.35950	0.0:0.2142:0.0:0.7858	.	452;452	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	452	ENSP00000375909:V452I;ENSP00000339886:V452I	ENSP00000339886:V452I	V	-	1	0	SPHKAP	228592460	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	3.744000	0.55112	0.179000	0.19938	-0.302000	0.09304	GTT	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331750.1		-	ENST00000392056.3	Missense_Mutation	SNP	2 : 228884216 - 228884216 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	341	12
STARD7	56910	broad.mit.edu	37	2	96873900	96873900	+	Silent	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:96873900C>T	ENST00000337288.5	-	1	656	c.273G>A	c.(271-273)caG>caA	p.Q91Q		NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	91						mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						ACTCCTCCTCCTGGATCCTCT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	28	28			NA	NA	2		NA											NA				96873900		2203	4300	6503	SO:0001819	synonymous_variant			AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090	56910	56910		StAR-related lipid transfer (START) domain containing	18063	protein-coding gene	gene with protein product			START domain containing 7		NA		Standard		NM_020151	NA	Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.273G>A	2.37:g.96873900C>T		NA	D3DXG9|Q53T44|Q6GU43|Q969M6	37	CCDS2017.2																																																																																			STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252848.2		-	ENST00000337288.5	Silent	SNP	2 : 96873900 - 96873900 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	228	16
TCTE1	202500	broad.mit.edu	37	6	44254126	44254126	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:44254126C>T	ENST00000371505.4	-	3	543	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_De_novo_Start_InFrame|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	141										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACGTGGCACACGGGCCAGCGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	78	79			NA	NA	6		NA											NA				44254126		2203	4300	6503	SO:0001583	missense			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221	202500	202500			11693	protein-coding gene	gene with protein product		186975			NA	2568335, 8646886	Standard	NM_182539	NM_182539	NA	Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.421G>A	6.37:g.44254126C>T	ENSP00000360560:p.Val141Met	NA	B4DX59|Q8IYS6	37	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205486	0.58234	.	.	ENSG00000146221	ENST00000371505	T	0.56103	0.48	4.95	4.08	0.47627	.	0.130007	0.53938	D	0.000059	T	0.45438	0.1342	M	0.78801	2.425	0.80722	D	1	D	0.57257	0.979	P	0.44518	0.452	T	0.56601	-0.7952	10	0.72032	D	0.01	-28.4028	13.2188	0.59875	0.0:0.9224:0.0:0.0776	.	141	Q5JU00	TCTE1_HUMAN	M	141	ENSP00000360560:V141M	ENSP00000360560:V141M	V	-	1	0	TCTE1	44362104	0.355000	0.24921	0.987000	0.45799	0.989000	0.77384	0.902000	0.28459	1.079000	0.41038	-0.251000	0.11542	GTG	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040736.1		-	ENST00000371505.4	Missense_Mutation	SNP	6 : 44254126 - 44254126 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	328	5
TTN	7273	broad.mit.edu	37	2	179600638	179600638	+	Silent	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:179600638G>A	ENST00000589042.1	-	50	14759	c.14535C>T	c.(14533-14535)gaC>gaT	p.D4845D	TTN_ENST00000342992.6_Silent_p.D3601D|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.D4528D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4528	Ig-like 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTTTCTGCGTCGGAAATCC	0.443		NA											G	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	5e-04	1	LOWCOV	NA	NA	5e-04	SNP								NA				0								G	,,,	0,3874		0,0,1937	135	131	132		,10803,,	-0.5	0.5	2		132	2,8284		0,2,4141	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,2,6078	AA,AG,GG	NA	0.0241,0.0,0.0164	,,,	,3601/33424,,	179600638	2,12158	1937	4143	6080	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.14535C>T	2.37:g.179600638G>A		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179600638 - 179600638 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	314	8
WNT5A	7474	broad.mit.edu	37	3	55504238	55504238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:55504238C>T	ENST00000474267.1	-	6	1546	c.1025G>A	c.(1024-1026)cGt>cAt	p.R342H	WNT5A_ENST00000497027.1_Missense_Mutation_p.R327H|WNT5A_ENST00000264634.4_Missense_Mutation_p.R342H			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	342					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GTCGTAGCCACGGCCGCAGCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	82	80			NA	NA	3		NA											NA				55504238		2203	4300	6503	SO:0001583	missense			L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251	7474	7474		Wingless-type MMTV integration sites, Endogenous ligands	12784	protein-coding gene	gene with protein product	WNT-5A protein	164975			NA	8288227	Standard	NM_003392	NM_001256105	NA	Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.1025G>A	3.37:g.55504238C>T	ENSP00000417310:p.Arg342His	NA	A8K4A4|Q6P278	37	CCDS46850.1	.	.	.	.	.	.	.	.	.	.	C	35	5.549874	0.96501	.	.	ENSG00000114251	ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027	T;T;T	0.80033	-1.33;-1.33;-1.33	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.93973	0.8070	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95589	0.8653	10	0.87932	D	0	.	19.7728	0.96373	0.0:1.0:0.0:0.0	.	342	P41221	WNT5A_HUMAN	H	342;342;253;327	ENSP00000417310:R342H;ENSP00000264634:R342H;ENSP00000420104:R327H	ENSP00000264634:R342H	R	-	2	0	WNT5A	55479278	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	7.813000	0.86123	2.687000	0.91594	0.655000	0.94253	CGT	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350793.3		-	ENST00000474267.1	Missense_Mutation	SNP	3 : 55504238 - 55504238 T PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	435	11
ZNF526	116115	broad.mit.edu	37	19	42730124	42730124	+	Silent	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:42730124G>A	ENST00000301215.3	+	3	1794	c.1569G>A	c.(1567-1569)acG>acA	p.T523T		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGACCCATACGGGTGCACGTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	65	67			NA	NA	19		NA											NA				42730124		2203	4300	6503	SO:0001819	synonymous_variant			AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625	116115	116115		Zinc fingers, C2H2-type	29415	protein-coding gene	gene with protein product		614387			NA	11853319	Standard	XM_057401	NM_133444	NA	Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1569G>A	19.37:g.42730124G>A		NA	B3KV29|Q69YI2|Q96E24	37	CCDS12598.1																																																																																			ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463681.2		+	ENST00000301215.3	Silent	SNP	19 : 42730124 - 42730124 A PAAD-TCGA-IB-AAUP-Tumor-SM-5PNOX	277	27
