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
ABCA2	20	broad.mit.edu	37	9	139908435	139908435	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:139908435G>A	ENST00000341511.6	-	28	4345	c.4296C>T	c.(4294-4296)ggC>ggT	p.G1432G	ABCA2_ENST00000265662.5_Silent_p.G1432G|ABCA2_ENST00000371605.3_Silent_p.G1431G	NM_001606.4|NM_212533.2	NP_001597|NP_997698.1	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1431					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCAGCCACCCGCCGTCCAGCT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	2,4166		0,2,2082	32	41	38		4296,4386	4.7	1	9		38	0,8396		0,0,4198	no	coding-synonymous,coding-synonymous	ABCA2	NM_001606.4,NM_212533.2	,	0,2,6280	AA,AG,GG	NA	0.0,0.048,0.0159	,	1432/2437,1462/2467	139908435	2,12562	2084	4198	6282	SO:0001819	synonymous_variant			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331	20	20		ATP binding cassette transporters / subfamily A	32	protein-coding gene	gene with protein product		600047		ABC2	NA	8088782	Standard	NM_001606	NM_212533	NA	Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000341511.6:c.4296C>T	9.37:g.139908435G>A		NA	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	37	CCDS43909.1																																																																																			ABCA2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055199.2		-	ENST00000341511.6	Silent	SNP	9 : 139908435 - 139908435 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	216	9
ACTL7B	10880	broad.mit.edu	37	9	111617095	111617095	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:111617095G>A	ENST00000374667.3	-	1	2144	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	372						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCTCAGGAGCGGCAGCCACTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	33	31			NA	NA	9		NA											NA				111617095		2151	4208	6359	SO:0001819	synonymous_variant			BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156	10880	10880			162	protein-coding gene	gene with protein product		604304			NA	10373328, 12907721	Standard	NM_006686	NM_006686	NA	Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.1116C>T	9.37:g.111617095G>A		NA	B2R9Q2|Q5JSV1	37	CCDS6771.1																																																																																			ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053571.1		-	ENST00000374667.3	Silent	SNP	9 : 111617095 - 111617095 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	238	4
ADAMTS15	170689	broad.mit.edu	37	11	130319167	130319167	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:130319167G>A	ENST00000299164.2	+	1	299	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	100					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GACCTGCGACGCTGCTTCTAT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	49	46			NA	NA	11		NA											NA				130319167		2198	4295	6493	SO:0001583	missense			AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106	170689	170689		ADAM metallopeptidases with thrombospondin type 1 motif	16305	protein-coding gene	gene with protein product		607509	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15		NA	11867212	Standard	NM_139055	NM_139055	NA	Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.299G>A	11.37:g.130319167G>A	ENSP00000299164:p.Arg100His	NA	Q32MI6	37	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	9.717	1.158526	0.21454	.	.	ENSG00000166106	ENST00000299164	T	0.04551	3.6	4.63	3.69	0.42338	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.02047	0.0064	N	0.03154	-0.405	0.22096	N	0.999367	B	0.19817	0.039	B	0.16722	0.016	T	0.47598	-0.9105	9	0.17369	T	0.5	.	4.0747	0.09899	0.2047:0.2129:0.5824:0.0	.	100	Q8TE58	ATS15_HUMAN	H	100	ENSP00000299164:R100H	ENSP00000299164:R100H	R	+	2	0	ADAMTS15	129824377	0.077000	0.21312	0.717000	0.30585	0.993000	0.82548	0.552000	0.23376	1.245000	0.43885	0.561000	0.74099	CGC	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385638.1		+	ENST00000299164.2	Missense_Mutation	SNP	11 : 130319167 - 130319167 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	477	52
ANK2	287	broad.mit.edu	37	4	114179218	114179218	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:114179218C>T	ENST00000357077.4	+	12	1254	c.1201C>T	c.(1201-1203)Cca>Tca	p.P401S	ANK2_ENST00000394537.3_Missense_Mutation_p.P401S|ANK2_ENST00000264366.6_Missense_Mutation_p.P401S|ANK2_ENST00000506722.1_Missense_Mutation_p.P380S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	401					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGTTTTACTCCACTGCACAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	99	101			NA	NA	4		NA											NA				114179218		2203	4300	6503	SO:0001583	missense			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362	287	287		Ankyrin repeat domain containing	493	protein-coding gene	gene with protein product		106410	long (electrocardiographic) QT syndrome 4	LQT4	NA	7485162, 12571597	Standard	NM_001148	NM_001148	NA	Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1201C>T	4.37:g.114179218C>T	ENSP00000349588:p.Pro401Ser	NA	Q01485|Q08AC7|Q08AC8|Q7Z3L5	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969555	0.92855	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.78003	-1.14;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.95	5.95	0.96441	Ankyrin repeat-containing domain (3);	0.000000	0.53938	D	0.000051	D	0.88768	0.6526	M	0.75884	2.315	0.80722	D	1	D;P;P;P;D	0.89917	1.0;0.63;0.911;0.635;0.998	D;P;P;B;D	0.87578	0.998;0.495;0.755;0.396;0.997	D	0.88615	0.3159	10	0.72032	D	0.01	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	401;401;401;380;380	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	S	380;380;380;416;401;401;401;380	ENSP00000423799:P380S;ENSP00000421011:P380S;ENSP00000421067:P380S;ENSP00000424722:P416S;ENSP00000378044:P401S;ENSP00000349588:P401S;ENSP00000264366:P401S	ENSP00000264366:P401S	P	+	1	0	ANK2	114398667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.817000	0.96982	0.563000	0.77884	CCA	ANK2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256422.2		+	ENST00000357077.4	Missense_Mutation	SNP	4 : 114179218 - 114179218 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	188	7
C10orf2	56652	broad.mit.edu	37	10	102748967	102748967	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:102748967C>T	ENST00000370228.1	+	1	1185	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	C10orf2_ENST00000311916.2_Nonsense_Mutation_p.R334*|C10orf2_ENST00000473656.1_Intron	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	334			R -> P (in PEOA3).|R -> Q (in PEO; sporadic case; the patient also carries the S-848 mutation in the POLG gene suggesting digenic inheritance; dbSNP:rs28937887).		cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CTTCTTGGTGCGACCAGGAGA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	59	60			NA	NA	10		NA											NA				102748967		2203	4300	6503	SO:0001587	stop_gained			AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815	56652	56652			1160	protein-coding gene	gene with protein product	twinkle, T7 helicase-related protein with intramitochondrial nucleoid localization	606075	infantile onset spinocerebellar ataxia (autosomal recessive)	IOSCA	NA	11431692, 10645945, 16135556	Standard	NM_021830	NM_021830	NA	Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000370228.1:c.1000C>T	10.37:g.102748967C>T	ENSP00000359248:p.Arg334*	NA	B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	37	CCDS53570.1	.	.	.	.	.	.	.	.	.	.	c	22.3	4.269486	0.80469	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	.	.	.	5.9	2.63	0.31362	.	0.176895	0.49916	D	0.000131	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.1322	10.4927	0.44760	0.2696:0.6067:0.1237:0.0	.	.	.	.	X	334	.	ENSP00000309595:R334X	R	+	1	2	C10orf2	102738957	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	2.501000	0.45389	1.443000	0.47586	0.457000	0.33378	CGA	C10orf2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049887.1		+	ENST00000370228.1	Nonsense_Mutation	SNP	10 : 102748967 - 102748967 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	338	25
CBWD3	445571	broad.mit.edu	37	9	70871889	70871889	+	Silent	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873	445571	445571			18519	protein-coding gene	gene with protein product		611080			NA	15233989, 12421752	Standard	NM_201453	XM_005277637	NA	Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.483C>T	9.37:g.70871889C>T		NA		37	CCDS35038.1																																																																																			CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052526.1		+	ENST00000360171.6	Silent	SNP	9 : 70871889 - 70871889 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	420	6
CCDC110	256309	broad.mit.edu	37	4	186379493	186379493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:186379493C>T	ENST00000510617.1	-	6	2308	c.2248G>A	c.(2248-2250)Gta>Ata	p.V750I	CCDC110_ENST00000307588.3_Missense_Mutation_p.V750I|CCDC110_ENST00000393540.3_Missense_Mutation_p.V713I			Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	750						nucleus		p.V750I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		ATGCTTCTTACGTAATTTTCT	0.284		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)											59	58	58			NA	NA	4		NA											NA				186379493		2203	4297	6500	SO:0001583	missense			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491	256309	256309			28504	protein-coding gene	gene with protein product	cancer/testis antigen 52	609488			NA	18160854	Standard	NM_152775	NM_152775	NA	Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000510617.1:c.2248G>A	4.37:g.186379493C>T	ENSP00000427246:p.Val750Ile	NA	Q86YI9|Q8N7W0	37		.	.	.	.	.	.	.	.	.	.	C	11.85	1.763163	0.31228	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.28895	1.59;1.59;1.59	5.54	3.55	0.40652	.	0.441395	0.19156	N	0.121335	T	0.30386	0.0763	M	0.63428	1.95	0.09310	N	1	D;D;D	0.60575	0.988;0.988;0.988	P;P;P	0.50934	0.654;0.654;0.654	T	0.18871	-1.0323	10	0.14252	T	0.57	-6.4794	1.659	0.02787	0.2086:0.4783:0.1387:0.1745	.	750;713;750	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	I	713;750;750	ENSP00000377172:V713I;ENSP00000306776:V750I;ENSP00000427246:V750I	ENSP00000306776:V750I	V	-	1	0	CCDC110	186616487	0.025000	0.19082	0.931000	0.37212	0.983000	0.72400	0.893000	0.28336	1.471000	0.48121	0.650000	0.86243	GTA	CCDC110-003	NOVEL	not_organism_supported|basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000360521.2		-	ENST00000510617.1	Missense_Mutation	SNP	4 : 186379493 - 186379493 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	78	4
CCNB2	9133	broad.mit.edu	37	15	59409031	59409031	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:59409031G>A	ENST00000288207.2	+	6	931	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	CCNB2_ENST00000559622.1_Missense_Mutation_p.R166Q	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	247					cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding			kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TCCCAAATCCGAGAAATGGAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	120	119			NA	NA	15		NA											NA				59409031		2191	4291	6482	SO:0001583	missense			AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456	9133	9133			1580	protein-coding gene	gene with protein product		602755			NA		Standard	NM_004701	NM_004701	NA	Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.740G>A	15.37:g.59409031G>A	ENSP00000288207:p.Arg247Gln	NA	B3KM93|Q6FI99	37	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225727	0.58668	.	.	ENSG00000157456	ENST00000288207	T	0.10960	2.82	5.28	4.35	0.52113	Cyclin, N-terminal (1);Cyclin-like (3);	0.118236	0.53938	D	0.000046	T	0.16727	0.0402	M	0.70842	2.15	0.52501	D	0.999952	P;P	0.43826	0.812;0.818	B;B	0.40782	0.163;0.34	T	0.02617	-1.1133	10	0.72032	D	0.01	.	14.4633	0.67467	0.0:0.0:0.8518:0.1482	.	247;247	Q53HG9;O95067	.;CCNB2_HUMAN	Q	247	ENSP00000288207:R247Q	ENSP00000288207:R247Q	R	+	2	0	CCNB2	57196323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.381000	0.59587	1.318000	0.45170	0.650000	0.86243	CGA	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256016.1		+	ENST00000288207.2	Missense_Mutation	SNP	15 : 59409031 - 59409031 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	482	7
CELSR3	1951	broad.mit.edu	37	3	48677390	48677390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:48677390G>A	ENST00000164024.4	-	34	9908	c.9628C>T	c.(9628-9630)Cgg>Tgg	p.R3210W	CELSR3_ENST00000544264.1_Missense_Mutation_p.R3215W	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3210					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGGGGTGCCGGCTAGGCACC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	58	55			NA	NA	3		NA											NA				48677390		2202	4300	6502	SO:0001583	missense			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300	1951	1951		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3230	protein-coding gene	gene with protein product	flamingo homolog 1 (Drosophila)	604264	cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog	EGFL1	NA	9693030	Standard	NM_001407	NM_001407	NA	Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9628C>T	3.37:g.48677390G>A	ENSP00000164024:p.Arg3210Trp	NA	O75092	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946434	0.73672	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.73047	-0.71;-0.71	4.92	1.72	0.24424	.	.	.	.	.	T	0.68952	0.3057	L	0.34521	1.04	0.32023	N	0.600519	D;D;D	0.71674	0.99;0.995;0.998	P;P;P	0.53490	0.727;0.661;0.661	T	0.74377	-0.3685	9	0.72032	D	0.01	.	12.4996	0.55948	0.0:0.0:0.4274:0.5726	.	3215;3210;3308	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	W	3210;3215	ENSP00000164024:R3210W;ENSP00000445694:R3215W	ENSP00000164024:R3210W	R	-	1	2	CELSR3	48652394	0.999000	0.42202	0.996000	0.52242	0.912000	0.54170	2.199000	0.42715	1.035000	0.39972	0.561000	0.74099	CGG	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257523.1		-	ENST00000164024.4	Missense_Mutation	SNP	3 : 48677390 - 48677390 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	308	36
CLK1	1195	broad.mit.edu	37	2	201724929	201724929	+	Silent	SNP	G	G	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:201724929G>T	ENST00000434813.2	-	4	860	c.526C>A	c.(526-528)Cga>Aga	p.R176R	CLK1_ENST00000321356.4_Silent_p.R134R	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	134	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CTTTTCCTTCGGTGACTCTTC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	147	156			NA	NA	2		NA											NA				201724929		2203	4300	6503	SO:0001819	synonymous_variant			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441	1195	1195		CDC-like kinases	2068	protein-coding gene	gene with protein product		601951			NA	9856501	Standard		NM_004071	NA	Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000434813.2:c.526C>A	2.37:g.201724929G>T		NA	Q0P694|Q8N5V8	37	CCDS54427.1																																																																																			CLK1-007	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336140.1		-	ENST00000434813.2	Silent	SNP	2 : 201724929 - 201724929 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	330	5
COL4A1	1282	broad.mit.edu	37	13	110857876	110857876	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr13:110857876C>T	ENST00000375820.4	-	16	989	c.868G>A	c.(868-870)Gga>Aga	p.G290R	COL4A1_ENST00000543140.1_Missense_Mutation_p.G290R	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	290	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCATCTTTTCCGGGTTTGCCC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	147	140			NA	NA	13		NA											NA				110857876		2203	4300	6503	SO:0001583	missense			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498	1282	1282		Collagens	2202	protein-coding gene	gene with protein product		120130			NA	3691802	Standard		NM_001845	NA	Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.868G>A	13.37:g.110857876C>T	ENSP00000364979:p.Gly290Arg	NA	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460326	0.43736	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.99353	-5.77;-5.77	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97186	0.9854	10	0.87932	D	0	.	17.8452	0.88728	0.0:1.0:0.0:0.0	.	290	P02462	CO4A1_HUMAN	R	279;290;290;290	ENSP00000364979:G290R;ENSP00000443348:G290R	ENSP00000364973:G279R	G	-	1	0	COL4A1	109655877	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	6.226000	0.72277	2.280000	0.76307	0.551000	0.68910	GGA	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045759.3		-	ENST00000375820.4	Missense_Mutation	SNP	13 : 110857876 - 110857876 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	594	9
CPA5	93979	broad.mit.edu	37	7	130008354	130008354	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:130008354G>A	ENST00000431780.2	+	11	1587	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q	CPA5_ENST00000485477.1_Silent_p.P409P|CPA5_ENST00000466363.2_Silent_p.P409P|CPA5_ENST00000355388.3_Silent_p.P409P|CPA5_ENST00000461828.1_Silent_p.P409P|CPA5_ENST00000474905.1_Silent_p.P409P|CPA5_ENST00000393213.3_Silent_p.P409P	NM_001127442.1	NP_001120914.1	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	0					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TCCTGCTGCCGGCCACACAGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	112	119			NA	NA	7		NA											NA				130008354		2203	4300	6503	SO:0001583	missense			AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525	93979	93979			15722	protein-coding gene	gene with protein product		609561			NA	11836249	Standard	NM_001127441	NM_080385	NA	Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000431780.2:c.1142G>A	7.37:g.130008354G>A	ENSP00000393045:p.Arg381Gln	NA	Q86SE2|Q86XM3|Q8NA08	37	CCDS47713.1	.	.	.	.	.	.	.	.	.	.	G	0.705	-0.789176	0.02884	.	.	ENSG00000158525	ENST00000431780;ENST00000479492	T	0.12774	2.65	5.85	-11.7	0.00046	.	.	.	.	.	T	0.05777	0.0151	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31420	-0.9944	7	.	.	.	.	8.197	0.31402	0.6118:0.1479:0.1748:0.0655	.	381	G3V0G8	.	Q	381;58	ENSP00000393045:R381Q	.	R	+	2	0	CPA5	129795590	0.000000	0.05858	0.046000	0.18839	0.006000	0.05464	-3.373000	0.00493	-3.150000	0.00231	-4.470000	0.00005	CGG	CPA5-007	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349718.1		+	ENST00000431780.2	Missense_Mutation	SNP	7 : 130008354 - 130008354 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	419	6
CSMD2	114784	broad.mit.edu	37	1	34011733	34011733	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:34011733G>A	ENST00000373381.4	-	57	9180	c.9004C>T	c.(9004-9006)Cgc>Tgc	p.R3002C		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2975	Sushi 22.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGCTGAAGCGCATCACAGTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	66	69			NA	NA	1		NA											NA				34011733		2203	4300	6503	SO:0001583	missense			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904	114784	114784			19290	protein-coding gene	gene with protein product		608398			NA	11472063, 11572484	Standard	NM_052896	NM_001281956	NA	Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9004C>T	1.37:g.34011733G>A	ENSP00000362479:p.Arg3002Cys	NA	B1AM50|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	37		.	.	.	.	.	.	.	.	.	.	G	19.58	3.854909	0.71719	.	.	ENSG00000121904	ENST00000373381	T	0.66815	-0.23	4.97	4.97	0.65823	Complement control module (2);Sushi/SCR/CCP (3);	0.213233	0.38217	N	0.001762	D	0.84005	0.5377	M	0.93678	3.445	0.80722	D	1	D;D	0.76494	0.994;0.999	P;D	0.70487	0.832;0.969	D	0.85887	0.1426	10	0.48119	T	0.1	.	10.9638	0.47399	0.0:0.0:0.7096:0.2904	.	2858;3002	Q7Z408;E7EUA6	CSMD2_HUMAN;.	C	3002	ENSP00000362479:R3002C	ENSP00000241312:R2858C	R	-	1	0	CSMD2	33784320	1.000000	0.71417	0.995000	0.50966	0.865000	0.49528	3.711000	0.54868	2.591000	0.87537	0.650000	0.86243	CGC	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			-	ENST00000373381.4	Missense_Mutation	SNP	1 : 34011733 - 34011733 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	230	22
DNAH17	8632	broad.mit.edu	37	17	76455199	76455199	+	Missense_Mutation	SNP	C	C	T	rs139080560	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:76455199C>T	ENST00000585328.1	-	61	9854	c.9730G>A	c.(9730-9732)Gtc>Atc	p.V3244I	DNAH17_ENST00000389840.5_Missense_Mutation_p.V3235I|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3			dynein, axonemal, heavy chain 17	NA										NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAGAAGCGGACGATGTTGATG	0.637		NA											C	5	0.0023	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0023	1	LOWCOV	NA	NA	7e-04	SNP								NA				0								C	ILE/VAL	52,4354	54.2+/-90.2	1,50,2152	171	177	175		9745	5.3	1	17	dbSNP_134	175	0,8600		0,0,4300	yes	missense	DNAH17	NM_173628.3	29	1,50,6452	TT,TC,CC	NA	0.0,1.1802,0.3998	benign	3249/4463	76455199	52,12954	2203	4300	6503	SO:0001583	missense			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775	8632	8632		Axonemal dyneins	2946	protein-coding gene	gene with protein product		610063	dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1	DNAHL1	NA	9545504	Standard	NM_173628	NM_173628	NA	Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9730G>A	17.37:g.76455199C>T	ENSP00000465516:p.Val3244Ile	NA		37		5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	14.20	2.464303	0.43736	0.011802	0.0	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.79141	-1.24	5.35	5.35	0.76521	.	0.000000	0.56097	D	0.000022	T	0.58452	0.2123	L	0.35487	1.065	0.33727	D	0.617749	P	0.35481	0.504	B	0.29716	0.106	T	0.67601	-0.5629	10	0.09590	T	0.72	.	18.6873	0.91570	0.0:1.0:0.0:0.0	.	3244	E7EUM8	.	I	3244;3235	ENSP00000374490:V3235I	ENSP00000300671:V3244I	V	-	1	0	DNAH17	73966794	0.998000	0.40836	0.991000	0.47740	0.991000	0.79684	3.678000	0.54627	2.491000	0.84063	0.655000	0.94253	GTC	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000318962.2		-	ENST00000585328.1	Missense_Mutation	SNP	17 : 76455199 - 76455199 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	854	77
DNMT3A	1788	broad.mit.edu	37	2	25505560	25505560	+	Silent	SNP	T	T	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:25505560T>C	ENST00000264709.3	-	4	535	c.198A>G	c.(196-198)ccA>ccG	p.P66P	DNMT3A_ENST00000321117.5_Silent_p.P66P|DNMT3A_ENST00000406659.3_Silent_p.P66P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	66					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGGTCCTTTGGCGTGTCAC	0.542		NA	Mis, F, N, S		AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													48	58	55			NA	NA	2		NA											NA				25505560		2202	4297	6499	SO:0001819	synonymous_variant				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772	1788	1788			2978	protein-coding gene	gene with protein product		602769			NA	9662389, 10433969	Standard	NM_022552	NM_175630	NA	Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.198A>G	2.37:g.25505560T>C		NA	Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	37	CCDS33157.1																																																																																			DNMT3A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211587.1		-	ENST00000264709.3	Silent	SNP	2 : 25505560 - 25505560 C PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	373	19
EFTUD1	79631	broad.mit.edu	37	15	82530841	82530841	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:82530841G>A	ENST00000268206.7	-	7	706	c.538C>T	c.(538-540)Ctt>Ttt	p.L180F	EFTUD1_ENST00000359445.3_Missense_Mutation_p.L129F	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	180					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GAAGTAAAAAGAGTCCCTGTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	33	35			NA	NA	15		NA											NA				82530841		1820	4071	5891	SO:0001583	missense			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598	79631	79631			25789	protein-coding gene	gene with protein product	ribosome assembly 1 homolog (yeast)				NA	14702039	Standard	NM_024580	NM_024580	NA	Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.538C>T	15.37:g.82530841G>A	ENSP00000268206:p.Leu180Phe	NA	A6NKY5|B7Z6I0|Q9H8Z6	37	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320203	0.41096	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.77229	-1.08;-1.08	4.49	4.49	0.54785	Protein synthesis factor, GTP-binding (1);	0.000000	0.47093	U	0.000251	T	0.81706	0.4879	L	0.38692	1.165	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.76184	-0.3052	10	0.13470	T	0.59	-0.0792	17.7897	0.88548	0.0:0.0:1.0:0.0	.	129;180	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	F	180;129	ENSP00000268206:L180F;ENSP00000352418:L129F	ENSP00000268206:L180F	L	-	1	0	EFTUD1	80317896	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.644000	0.61397	2.501000	0.84356	0.405000	0.27470	CTT	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419252.1		-	ENST00000268206.7	Missense_Mutation	SNP	15 : 82530841 - 82530841 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	93	8
EPS8L2	64787	broad.mit.edu	37	11	722406	722406	+	Silent	SNP	C	C	T	rs146372566		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:722406C>T	ENST00000533256.1	+	14	1440	c.1065C>T	c.(1063-1065)gtC>gtT	p.V355V	EPS8L2_ENST00000530636.1_Silent_p.V355V|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Silent_p.V371V|EPS8L2_ENST00000318562.8_Silent_p.V355V			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	355						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCAGATCGTCAACACCTGCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0										1,4405	2.1+/-5.4	0,1,2202	82	73	76		1065	1	1	11	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	EPS8L2	NM_022772.3		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		355/716	722406	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106	64787	64787			21296	protein-coding gene	gene with protein product		614988			NA	12620401	Standard	NM_022772	NM_022772	NA	Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1065C>T	11.37:g.722406C>T		NA	B3KSX1|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	37	CCDS31328.1																																																																																			EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382344.1		+	ENST00000533256.1	Silent	SNP	11 : 722406 - 722406 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	295	24
ESPL1	9700	broad.mit.edu	37	12	53663505	53663505	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:53663505G>A	ENST00000257934.4	+	3	870	c.779G>A	c.(778-780)cGt>cAt	p.R260H	ESPL1_ENST00000552462.1_Missense_Mutation_p.R260H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	260					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GAACACTGCCGTCGCTTTTGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(53;1069 1201 2587 5382)							NA				0													67	67	67			NA	NA	12		NA											NA				53663505		2203	4300	6503	SO:0001583	missense			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	9700	9700	3.4.22.49		16856	protein-coding gene	gene with protein product	separin, separase, separin, cysteine protease	604143	extra spindle poles like 1 (S. cerevisiae)		NA	8724849, 16258266	Standard	NM_012291	NM_012291	NA	Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.779G>A	12.37:g.53663505G>A	ENSP00000257934:p.Arg260His	NA		37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429533	0.83776	.	.	ENSG00000135476	ENST00000257934;ENST00000552462	T;T	0.15256	2.44;2.44	5.41	4.5	0.54988	.	0.131175	0.50627	D	0.000102	T	0.36663	0.0975	M	0.72118	2.19	0.37632	D	0.921717	D	0.89917	1.0	D	0.63283	0.913	T	0.18116	-1.0347	9	.	.	.	.	13.5552	0.61756	0.0776:0.0:0.9224:0.0	.	260	Q14674	ESPL1_HUMAN	H	260	ENSP00000257934:R260H;ENSP00000449831:R260H	.	R	+	2	0	ESPL1	51949772	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.064000	0.57506	2.815000	0.96918	0.561000	0.74099	CGT	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406899.2		+	ENST00000257934.4	Missense_Mutation	SNP	12 : 53663505 - 53663505 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	414	6
FAM71B	153745	broad.mit.edu	37	5	156590199	156590199	+	Silent	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr5:156590199C>T	ENST00000302938.4	-	2	1172	c.1077G>A	c.(1075-1077)tcG>tcA	p.S359S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	359						nucleus		p.S359S(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCCCGCCATCGAGGTGGAAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)						C		0,4406		0,0,2203	35	38	37		1077	-4	0	5		37	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM71B	NM_130899.2		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		359/606	156590199	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613	153745	153745			28397	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_130899	NM_130899	NA	Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1077G>A	5.37:g.156590199C>T		NA	Q1EDD9|Q8TC64|Q96LY8	37	CCDS4335.1																																																																																			FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252570.2		-	ENST00000302938.4	Silent	SNP	5 : 156590199 - 156590199 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	208	21
FAT3	120114	broad.mit.edu	37	11	92523233	92523233	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:92523233G>A	ENST00000525166.1	+	7	4032	c.4010G>A	c.(4009-4011)aGa>aAa	p.R1337K	FAT3_ENST00000298047.6_Missense_Mutation_p.R1487K|FAT3_ENST00000409404.2_Missense_Mutation_p.R1487K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1487	Cadherin 12.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCCACAGATAGAGATGAGAAG	0.473		NA								TCGA Ovarian(4;0.039)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	182	184			NA	NA	11		NA											NA				92523233		2084	4228	6312	SO:0001583	missense			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323	120114	120114		Cadherins / Cadherin-related	23112	protein-coding gene	gene with protein product	cadherin-related family member 10	612483	FAT tumor suppressor homolog 3 (Drosophila)		NA	11811999	Standard	NM_001008781	NM_001008781	NA	Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000525166.1:c.4010G>A	11.37:g.92523233G>A	ENSP00000432586:p.Arg1337Lys	NA	B5MDB0|Q96AU6	37		.	.	.	.	.	.	.	.	.	.	G	12.62	1.991286	0.35131	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01685	4.69;4.69;4.69	6.17	5.27	0.74061	.	.	.	.	.	T	0.01189	0.0039	N	0.11927	0.2	0.80722	D	1	B	0.21753	0.06	B	0.19666	0.026	T	0.41893	-0.9483	9	0.02654	T	1	.	11.64	0.51227	0.1347:0.0:0.8653:0.0	.	1487	Q8TDW7-3	.	K	1487;1487;1337	ENSP00000298047:R1487K;ENSP00000387040:R1487K;ENSP00000432586:R1337K	ENSP00000298047:R1487K	R	+	2	0	FAT3	92162881	1.000000	0.71417	0.562000	0.28370	0.866000	0.49608	4.904000	0.63279	1.636000	0.50526	0.655000	0.94253	AGA	FAT3-001	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000335363.3		+	ENST00000525166.1	Missense_Mutation	SNP	11 : 92523233 - 92523233 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	527	48
FCGBP	8857	broad.mit.edu	37	19	40433869	40433869	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:40433869G>A	ENST00000221347.6	-	2	407	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	134	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGATGGGCCGCAGCAGTGTC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	54	57			NA	NA	19		NA											NA				40433869		2203	4300	6503	SO:0001583	missense			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395	8857	8857			13572	protein-coding gene	gene with protein product	IgG Fc binding protein, Human Fc gamma BP				NA	9182547	Standard	NM_003890	NM_003890	NA	Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.400C>T	19.37:g.40433869G>A	ENSP00000221347:p.Arg134Trp	NA	O95784	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	6.404	0.442631	0.12164	.	.	ENSG00000090920	ENST00000221347	T	0.18338	2.22	4.13	-8.27	0.01017	.	0.899723	0.09194	N	0.835531	T	0.04137	0.0115	N	0.00926	-1.1	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.45991	-0.9223	10	0.37606	T	0.19	.	8.3971	0.32564	0.6469:0.0:0.1439:0.2092	.	134	Q9Y6R7	FCGBP_HUMAN	W	134	ENSP00000221347:R134W	ENSP00000221347:R134W	R	-	1	2	FCGBP	45125709	0.000000	0.05858	0.000000	0.03702	0.294000	0.27393	-0.060000	0.11712	-1.660000	0.01486	0.655000	0.94253	CGG	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462507.1		-	ENST00000221347.6	Missense_Mutation	SNP	19 : 40433869 - 40433869 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	191	4
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.						calcium ion binding|structural molecule activity	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	kidney(1)											412	337	362			NA	NA	1		NA											NA				152327955		2203	4300	6503	SO:0001819	synonymous_variant			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520	388698	388698		EF-hand domain containing	33276	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001014342	NM_001014342	NA	Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2307C>T	1.37:g.152327955G>A		NA	Q9H4U1	37	CCDS30861.1																																																																																			FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034018.5		-	ENST00000388718.5	Silent	SNP	1 : 152327955 - 152327955 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	1134	8
FOXC2	2303	broad.mit.edu	37	16	86601494	86601494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:86601494G>A	ENST00000320354.4	+	1	638	c.553G>A	c.(553-555)Gag>Aag	p.E185K		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	185					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CCACCTCAAGGAGCCGCCCCC	0.682		NA							Late-onset Hereditary Lymphedema					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	21	18			NA	NA	16		NA											NA				86601494		2060	4113	6173	SO:0001583	missense	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692	2303	2303		Forkhead boxes	3801	protein-coding gene	gene with protein product		602402		FKHL14	NA	9169153, 8674414	Standard	NM_005251	NM_005251	NA	Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.553G>A	16.37:g.86601494G>A	ENSP00000326371:p.Glu185Lys	NA	C6KMR9|Q14DA6	37	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	g	15.19	2.758706	0.49468	.	.	ENSG00000176692	ENST00000320354	D	0.95001	-3.58	4.23	4.23	0.50019	.	1.447760	0.04727	U	0.420400	D	0.91935	0.7446	L	0.39898	1.24	0.48087	D	0.999582	B	0.11235	0.004	B	0.09377	0.004	T	0.70608	-0.4825	10	0.11182	T	0.66	.	15.2735	0.73723	0.0:0.0:1.0:0.0	.	185	Q99958	FOXC2_HUMAN	K	185	ENSP00000326371:E185K	ENSP00000326371:E185K	E	+	1	0	FOXC2	85158995	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	5.154000	0.64894	1.917000	0.55516	0.553000	0.69018	GAG	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269104.2		+	ENST00000320354.4	Missense_Mutation	SNP	16 : 86601494 - 86601494 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	232	5
GNAO1	2775	broad.mit.edu	37	16	56374750	56374750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:56374750G>A	ENST00000262494.7	+	7	988	c.728G>A	c.(727-729)cGc>cAc	p.R243H	GNAO1_ENST00000262493.6_Intron	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	243					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TTGCAGAACCGCATGCACGAA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													246	247	247			NA	NA	16		NA											NA				56374750		2198	4300	6498	SO:0001583	missense				CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258	2775	2775			4389	protein-coding gene	gene with protein product		139311			NA	1899283, 11395521	Standard	NM_020988	NM_020988	NA	Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262494.7:c.728G>A	16.37:g.56374750G>A	ENSP00000262494:p.Arg243His	NA	P29777|Q8TD72|Q9UMV4	37	CCDS10757.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155658	0.94686	.	.	ENSG00000087258	ENST00000262494	D	0.92249	-3.0	5.02	5.02	0.67125	.	.	.	.	.	D	0.98124	0.9381	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99882	1.1114	9	0.87932	D	0	.	18.3413	0.90307	0.0:0.0:1.0:0.0	.	243	P09471-2	.	H	243	ENSP00000262494:R243H	ENSP00000262494:R243H	R	+	2	0	GNAO1	54932251	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.332000	0.79248	0.561000	0.74099	CGC	GNAO1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256982.2		+	ENST00000262494.7	Missense_Mutation	SNP	16 : 56374750 - 56374750 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	973	8
GPR128	84873	broad.mit.edu	37	3	100365497	100365497	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:100365497C>T	ENST00000475887.1	+	4	579	c.310C>T	c.(310-312)Caa>Taa	p.Q104*	GPR128_ENST00000273352.3_Nonsense_Mutation_p.Q399*			Q96K78	GP128_HUMAN	G protein-coupled receptor 128	399					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATATGGCTGTCAAAAAGACAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(87;185 1975 7223 18722)							NA				0													107	107	107			NA	NA	3		NA											NA				100365497		2203	4300	6503	SO:0001587	stop_gained			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820	84873	84873		-, GPCR / Class B : Orphans	19241	protein-coding gene	gene with protein product		612307			NA		Standard		NM_032787	NA	Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000475887.1:c.310C>T	3.37:g.100365497C>T	ENSP00000419788:p.Gln104*	NA	Q14D94|Q86SQ2	37		.	.	.	.	.	.	.	.	.	.	C	32	5.120168	0.94385	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	.	.	.	5.32	-5.99	0.02213	.	1.572660	0.03413	N	0.205109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.2344	0.00184	0.3615:0.1523:0.1933:0.293	.	.	.	.	X	399;104	.	ENSP00000273352:Q399X	Q	+	1	0	GPR128	101848187	0.000000	0.05858	0.003000	0.11579	0.199000	0.23934	-1.251000	0.02882	-0.824000	0.04295	-0.176000	0.13171	CAA	GPR128-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353237.1		+	ENST00000475887.1	Nonsense_Mutation	SNP	3 : 100365497 - 100365497 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	276	28
GRIK2	2898	broad.mit.edu	37	6	102337618	102337618	+	Missense_Mutation	SNP	G	G	A	rs141189363	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:102337618G>A	ENST00000369138.1	+	11	2118	c.1628G>A	c.(1627-1629)cGc>cAc	p.R543H	GRIK2_ENST00000421544.1_Missense_Mutation_p.R543H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R543H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R543H|GRIK2_ENST00000369134.4_Missense_Mutation_p.R494H|GRIK2_ENST00000413795.1_Missense_Mutation_p.R543H	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	543					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ATTTTGTACCGCAAGCCCAAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	179	174	176		1628,1628,1628	5.6	1	6	dbSNP_134	176	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	GRIK2	NM_001166247.1,NM_021956.4,NM_175768.3	29,29,29	0,5,6498	AA,AG,GG	NA	0.0233,0.0681,0.0384	possibly-damaging,possibly-damaging,possibly-damaging	543/893,543/909,543/870	102337618	5,13001	2203	4300	6503	SO:0001583	missense				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418	2898	2898		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4580	protein-coding gene	gene with protein product		138244		GLUR6	NA	8034316	Standard		NM_021956	NA	Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000369138.1:c.1628G>A	6.37:g.102337618G>A	ENSP00000358134:p.Arg543His	NA	A6NMY9|B5MCV0|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	37	CCDS55045.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374924	0.82573	6.81E-4	2.33E-4	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000436862	T;T;T;T;T;T;T	0.54071	2.55;2.55;2.55;0.59;2.55;2.55;2.55	5.6	5.6	0.85130	Ionotropic glutamate receptor (1);	0.104915	0.64402	D	0.000002	T	0.45617	0.1351	M	0.69463	2.115	0.80722	D	1	P;P;P	0.40875	0.731;0.611;0.731	B;B;B	0.37888	0.26;0.133;0.26	T	0.56025	-0.8047	10	0.66056	D	0.02	.	19.6182	0.95643	0.0:0.0:1.0:0.0	.	543;543;543	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	H	543;543;543;543;543;543;494;142	ENSP00000397026:R543H;ENSP00000405596:R543H;ENSP00000358134:R543H;ENSP00000358133:R543H;ENSP00000313276:R543H;ENSP00000358130:R494H;ENSP00000407140:R142H	ENSP00000313276:R543H	R	+	2	0	GRIK2	102444311	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.626000	0.88956	0.650000	0.86243	CGC	GRIK2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043720.1		+	ENST00000369138.1	Missense_Mutation	SNP	6 : 102337618 - 102337618 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	492	7
HLCS	3141	broad.mit.edu	37	21	38269180	38269180	+	Silent	SNP	T	T	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr21:38269180T>C	ENST00000399120.1	-	7	2661	c.1431A>G	c.(1429-1431)acA>acG	p.T477T	HLCS_ENST00000482273.1_5'UTR|HLCS_ENST00000336648.4_Silent_p.T477T	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	477					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GACGCATCGTTGTGGGGGTCA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	79	82			NA	NA	21		NA											NA				38269180		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	3141	3141	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase), holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)		NA	7842009	Standard		NM_000411	NA	Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1431A>G	21.37:g.38269180T>C		NA	D3DSG6|Q99451	37	CCDS13647.1																																																																																			HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194687.2		-	ENST00000399120.1	Silent	SNP	21 : 38269180 - 38269180 C PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	224	18
KAT6B	23522	broad.mit.edu	37	10	76735263	76735263	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:76735263G>A	ENST00000287239.4	+	8	1657	c.1168G>A	c.(1168-1170)Gca>Aca	p.A390T	KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372711.1_Missense_Mutation_p.A390T	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	390	Negatively regulates HAT activity.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding				NA						TGGTCATGCTGCATCTGGGAA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	102	106			NA	NA	10		NA											NA				76735263		2203	4300	6503	SO:0001583	missense			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650	23522	23522		Chromatin-modifying enzymes / K-acetyltransferases, Zinc fingers, C2HC-type containing, Zinc fingers, PHD-type	17582	protein-coding gene	gene with protein product	MOZ-related factor	605880	MYST histone acetyltransferase (monocytic leukemia) 4	MYST4	NA	9205841, 10497217	Standard	NM_012330	NM_012330	NA	Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.1168G>A	10.37:g.76735263G>A	ENSP00000287239:p.Ala390Thr	NA	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259685	0.39995	.	.	ENSG00000156650	ENST00000287239;ENST00000372711	T;T	0.77620	-1.11;-1.11	5.73	5.73	0.89815	.	0.000000	0.46758	D	0.000280	T	0.81688	0.4875	L	0.29908	0.895	0.33513	D	0.591426	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.922	T	0.83257	-0.0050	9	.	.	.	-8.6299	18.0612	0.89378	0.0:0.0:1.0:0.0	.	390;390	Q8WYB5-2;Q8WYB5	.;KAT6B_HUMAN	T	390	ENSP00000287239:A390T;ENSP00000361796:A390T	.	A	+	1	0	KAT6B	76405269	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.219000	0.78000	2.716000	0.92895	0.655000	0.94253	GCA	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048771.1		+	ENST00000287239.4	Missense_Mutation	SNP	10 : 76735263 - 76735263 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	268	6
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	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-A5SO-Tumor-SM-4WPAC	100	10
MAPT	4137	broad.mit.edu	37	17	44060672	44060672	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:44060672C>T	ENST00000415613.2	+	5	502	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	MAPT_ENST00000571987.1_Missense_Mutation_p.R168C|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.R168C|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000344290.5_Missense_Mutation_p.R168C|MAPT_ENST00000420682.2_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	168					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				AGAGGCCACACGCCAACCTTC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	15	14			NA	NA	17		NA											NA				44060672		2196	4292	6488	SO:0001583	missense			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868	4137	4137			6893	protein-coding gene	gene with protein product	G protein beta1/gamma2 subunit-interacting factor 1, microtubule-associated protein tau, isoform 4, protein phosphatase 1, regulatory subunit 103	157140		DDPAC, MAPTL	NA	7936241, 3131773	Standard	NM_016835	NM_001123067	NA	Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000415613.2:c.502C>T	17.37:g.44060672C>T	ENSP00000410838:p.Arg168Cys	NA	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	37	CCDS45715.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188535	0.38609	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	T;T;T	0.10382	2.88;2.88;2.88	4.03	-2.5	0.06384	.	2.448770	0.01389	N	0.013192	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.06405	0.002;0.0	T	0.37934	-0.9684	10	0.52906	T	0.07	4.9526	4.149	0.10228	0.0:0.3518:0.3326:0.3156	.	168;168	P10636-9;P10636	.;TAU_HUMAN	C	168	ENSP00000340820:R168C;ENSP00000262410:R168C;ENSP00000410838:R168C	ENSP00000262410:R168C	R	+	1	0	MAPT	41416509	0.000000	0.05858	0.000000	0.03702	0.427000	0.31564	-2.823000	0.00748	-0.148000	0.11234	0.561000	0.74099	CGC	MAPT-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401265.1		+	ENST00000415613.2	Missense_Mutation	SNP	17 : 44060672 - 44060672 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	71	5
MCM2	4171	broad.mit.edu	37	3	127325138	127325138	+	Missense_Mutation	SNP	G	G	A	rs148533176		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:127325138G>A	ENST00000265056.7	+	5	1095	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	284					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						ATCCATGTCCGCATCTCCCAC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	156	126	136		851	5.1	1	3	dbSNP_134	136	0,8600		0,0,4300	no	missense	MCM2	NM_004526.2	29	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	284/905	127325138	1,13005	2203	4300	6503	SO:0001583	missense			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111	4171	4171			6944	protein-coding gene	gene with protein product	mitotin	116945	minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin), MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)	CCNL1, CDCL1	NA	1710453, 8258304	Standard		NM_004526	NA	Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.851G>A	3.37:g.127325138G>A	ENSP00000265056:p.Arg284His	NA	Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	37	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.404519|4.404519	0.83230|0.83230	2.27E-4|2.27E-4	0.0|0.0	ENSG00000073111|ENSG00000073111	ENST00000491422|ENST00000265056;ENST00000539922;ENST00000543142	.|T	.|0.14640	.|2.49	5.1|5.1	5.1|5.1	0.69264|0.69264	.|Nucleic acid-binding, OB-fold-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48370|0.48370	0.1496|0.1496	M|M	0.91354|0.91354	3.2|3.2	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.993;0.999;0.999	T|T	0.60796|0.60796	-0.7192|-0.7192	5|10	.|0.66056	.|D	.|0.02	-27.6015|-27.6015	18.5425|18.5425	0.91033|0.91033	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|265;154;284	.|F5H1E9;B4DSV5;P49736	.|.;.;MCM2_HUMAN	T|H	147|284;188;265	.|ENSP00000265056:R284H	.|ENSP00000265056:R284H	A|R	+|+	1|2	0|0	MCM2|MCM2	128807828|128807828	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.298000|0.298000	0.27526|0.27526	9.834000|9.834000	0.99428|0.99428	2.363000|2.363000	0.80096|0.80096	0.591000|0.591000	0.81541|0.81541	GCA|CGC	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356612.1		+	ENST00000265056.7	Missense_Mutation	SNP	3 : 127325138 - 127325138 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	481	6
MIOS	54468	broad.mit.edu	37	7	7625382	7625382	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:7625382G>C	ENST00000340080.4	+	7	2185	c.1764G>C	c.(1762-1764)ttG>ttC	p.L588F	MIOS_ENST00000405785.1_Missense_Mutation_p.L588F	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	588										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCCGTATTTGTGTGTCATGT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	155	157			NA	NA	7		NA											NA				7625382		1876	4107	5983	SO:0001583	missense				CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654	54468	54468			21905	protein-coding gene	gene with protein product	WD repeat-containing protein mio	615359			NA	14973288	Standard	NM_019005	NM_019005	NA	Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.1764G>C	7.37:g.7625382G>C	ENSP00000339881:p.Leu588Phe	NA	B2RTV6|O75216|Q7L551|Q9H092	37	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445831	0.43429	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.58210	0.35;0.35	5.46	-5.98	0.02220	.	0.000000	0.85682	D	0.000000	T	0.52370	0.1730	L	0.55834	1.745	0.49687	D	0.999814	D	0.54964	0.969	P	0.61592	0.891	T	0.59284	-0.7483	10	0.66056	D	0.02	-7.714	4.7574	0.13092	0.2284:0.4582:0.2193:0.0941	.	588	Q9NXC5	MIO_HUMAN	F	588	ENSP00000339881:L588F;ENSP00000384088:L588F	ENSP00000339881:L588F	L	+	3	2	MIOS	7591907	0.393000	0.25237	0.113000	0.21522	0.612000	0.37316	-0.341000	0.07811	-1.651000	0.01504	-0.229000	0.12294	TTG	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326218.1		+	ENST00000340080.4	Missense_Mutation	SNP	7 : 7625382 - 7625382 C PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	403	6
MOXD1	26002	broad.mit.edu	37	6	132649632	132649632	+	Silent	SNP	G	G	A	rs145443994		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:132649632G>A	ENST00000367963.3	-	5	883	c.765C>T	c.(763-765)caC>caT	p.H255H	MOXD1_ENST00000336749.3_Silent_p.H187H	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	255					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GATAGCACTCGTGGCCGGACT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	169	143	152		765	-5.9	0.5	6	dbSNP_134	152	0,8600		0,0,4300	no	coding-synonymous	MOXD1	NM_015529.2		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		255/614	132649632	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931	26002	26002			21063	protein-coding gene	gene with protein product		609000			NA	9751809	Standard	NM_015529	XM_006715456	NA	Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.765C>T	6.37:g.132649632G>A		NA	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	37	CCDS5152.2																																																																																			MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000125837.1		-	ENST00000367963.3	Silent	SNP	6 : 132649632 - 132649632 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	282	13
NAF1	92345	broad.mit.edu	37	4	164050411	164050411	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:164050411G>A	ENST00000274054.2	-	8	1316	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	375					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GAAAATCCTCGTGTGAATTCT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	111	109			NA	NA	4		NA											NA				164050411		2203	4300	6503	SO:0001587	stop_gained				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414	92345	92345			25126	protein-coding gene	gene with protein product			nuclear assembly factor 1 homolog (S. cerevisiae)		NA	16618814, 16601202	Standard	NM_138386	NM_138386	NA	Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1123C>T	4.37:g.164050411G>A	ENSP00000274054:p.Arg375*	NA	D3DP28	37	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808836	0.50421	.	.	ENSG00000145414	ENST00000274054	.	.	.	4.71	-1.19	0.09585	.	0.519016	0.17234	N	0.181810	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-2.034	3.5873	0.07975	0.0796:0.3444:0.2622:0.3139	.	.	.	.	X	375	.	ENSP00000274054:R375X	R	-	1	2	NAF1	164269861	0.005000	0.15991	0.001000	0.08648	0.006000	0.05464	0.134000	0.15932	-0.399000	0.07668	-0.218000	0.12543	CGA	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364684.2		-	ENST00000274054.2	Nonsense_Mutation	SNP	4 : 164050411 - 164050411 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	248	8
NRBP1	29959	broad.mit.edu	37	2	27664633	27664633	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:27664633C>T	ENST00000233557.3	+	19	2394	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	NRBP1_ENST00000379852.3_Missense_Mutation_p.A521V|NRBP1_ENST00000379863.3_Missense_Mutation_p.A529V			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	521					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	p.A521V(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TTCAATTTTGCCAGGAACAGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	urinary_tract(1)											163	166	165			NA	NA	2		NA											NA				27664633		2203	4300	6503	SO:0001583	missense			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216	29959	29959			7993	protein-coding gene	gene with protein product		606010	nuclear receptor binding protein	NRBP	NA	10843813, 11956649	Standard	NM_013392	NM_013392	NA	Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1562C>T	2.37:g.27664633C>T	ENSP00000233557:p.Ala521Val	NA	B3KV40|D6W558|Q53FZ5|Q96SU3	37	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346025	0.61073	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.14640	2.79;2.79;2.49	5.56	5.56	0.83823	.	0.247697	0.47455	D	0.000236	T	0.11537	0.0281	N	0.14661	0.345	0.34921	D	0.748418	B;B;B	0.28713	0.22;0.043;0.025	B;B;B	0.30401	0.115;0.049;0.013	T	0.18116	-1.0347	10	0.62326	D	0.03	-4.5565	18.0752	0.89425	0.0:1.0:0.0:0.0	.	501;529;521	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	V	521;501;521;529	ENSP00000233557:A521V;ENSP00000369181:A521V;ENSP00000369192:A529V	ENSP00000233557:A521V	A	+	2	0	NRBP1	27518137	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.033000	0.57282	2.615000	0.88500	0.561000	0.74099	GCC	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215033.1		+	ENST00000233557.3	Missense_Mutation	SNP	2 : 27664633 - 27664633 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	716	6
NUTF2	10204	broad.mit.edu	37	16	67904796	67904796	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:67904796G>A	ENST00000219169.4	+	5	647	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	NUTF2_ENST00000569436.2_Missense_Mutation_p.A122T|NUTF2_ENST00000568396.2_Missense_Mutation_p.A122T	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	122					protein transport	cytosol|nuclear pore	protein binding|transporter activity			kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		GTTCAGGCTCGCCCTGCACAA	0.517		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	2e-04	0.0013	NA	NA	5e-04	0.9547	EXOME	NA	NA	0.001	SNP								NA				0													102	86	91			NA	NA	16		NA											NA				67904796		2198	4300	6498	SO:0001583	missense			U43939	CCDS10848.1	16q22.1	2008-02-05			ENSG00000102898	ENSG00000102898	10204	10204			13722	protein-coding gene	gene with protein product		605813			NA	7744965, 3380696	Standard		NM_005796	NA	Approved	NTF2, PP15	uc002eup.3	P61970	OTTHUMG00000137540	ENST00000219169.4:c.364G>A	16.37:g.67904796G>A	ENSP00000219169:p.Ala122Thr	NA	B2R4G7|P13662|Q6IB67	37	CCDS10848.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.7	4.031459	0.75504	.	.	ENSG00000102898	ENST00000219169	.	.	.	5.35	5.35	0.76521	.	0.053987	0.64402	D	0.000001	T	0.61751	0.2372	M	0.82323	2.585	0.80722	D	1	B	0.33583	0.418	B	0.18561	0.022	T	0.63712	-0.6575	9	0.14252	T	0.57	-33.3308	18.6568	0.91456	0.0:0.0:1.0:0.0	.	122	P61970	NTF2_HUMAN	T	122	.	ENSP00000219169:A122T	A	+	1	0	NUTF2	66462297	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.263000	0.72521	2.500000	0.84329	0.655000	0.94253	GCC	NUTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268871.1		+	ENST00000219169.4	Missense_Mutation	SNP	16 : 67904796 - 67904796 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	295	14
OPRL1	4987	broad.mit.edu	37	20	62729805	62729805	+	Silent	SNP	C	C	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:62729805C>A	ENST00000349451.3	+	6	1178	c.766C>A	c.(766-768)Cgg>Agg	p.R256R	OPRL1_ENST00000336866.2_Silent_p.R256R|OPRL1_ENST00000355631.4_Silent_p.R256R	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	256					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					AGAGAAGGACCGGAACCTGCG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	107	112			NA	NA	20		NA											NA				62729805		2203	4299	6502	SO:0001819	synonymous_variant				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510	4987	4987		GPCR / Class A : Opioid receptors	8155	protein-coding gene	gene with protein product	LC132 receptor-like, orphanin FQ receptor, kappa3-related opioid receptor	602548			NA	8137918	Standard	NM_182647	NM_000913	NA	Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.766C>A	20.37:g.62729805C>A		NA	Q8TD34|Q8WYH9|Q9H4K4	37	CCDS13556.1																																																																																			OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080295.1		+	ENST00000349451.3	Silent	SNP	20 : 62729805 - 62729805 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	377	9
OR13D1	286365	broad.mit.edu	37	9	107456958	107456958	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:107456958C>T	ENST00000318763.5	+	1	299	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CTTGGATTCTCGCCTCCATAC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													239	240	240			NA	NA	9		NA											NA				107456958		2203	4300	6503	SO:0001583	missense				CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055	286365	286365		GPCR / Class A : Olfactory receptors	14695	protein-coding gene	gene with protein product					NA		Standard		NM_001004484	NA	Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.256C>T	9.37:g.107456958C>T	ENSP00000317357:p.Arg86Cys	NA	B9EIS1|Q6IFL1	37	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	C	1.682	-0.506177	0.04231	.	.	ENSG00000179055	ENST00000318763	T	0.00588	6.37	3.75	1.81	0.25067	GPCR, rhodopsin-like superfamily (1);	0.261494	0.27526	N	0.018973	T	0.00754	0.0025	M	0.74258	2.255	0.09310	N	1	B	0.33919	0.432	B	0.32724	0.151	T	0.46373	-0.9196	10	0.56958	D	0.05	.	4.236	0.10625	0.2246:0.6517:0.0:0.1237	.	86	Q8NGV5	O13D1_HUMAN	C	86	ENSP00000317357:R86C	ENSP00000317357:R86C	R	+	1	0	OR13D1	106496779	0.000000	0.05858	0.052000	0.19188	0.014000	0.08584	-1.829000	0.01701	0.237000	0.21200	0.609000	0.83330	CGC	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053483.1		+	ENST00000318763.5	Missense_Mutation	SNP	9 : 107456958 - 107456958 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	755	7
OSTF1	26578	broad.mit.edu	37	9	77752511	77752511	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:77752511G>A	ENST00000346234.6	+	8	616	c.466G>A	c.(466-468)Gtc>Atc	p.V156I		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	156					ossification|signal transduction	cytoplasm	identical protein binding			endometrium(1)|skin(1)	2						TGCAGATATCGTCCAGTTGCT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	150	159			NA	NA	9		NA											NA				77752511		2203	4300	6503	SO:0001583	missense			U63717	CCDS6651.1	9q13-q21.2	2013-01-10			ENSG00000134996	ENSG00000134996	26578	26578		Ankyrin repeat domain containing	8510	protein-coding gene	gene with protein product		610180			NA	10092216	Standard	NM_012383	NM_012383	NA	Approved	SH3P2, OSF, bA235O14.1	uc004ajv.4	Q92882	OTTHUMG00000020033	ENST00000346234.6:c.466G>A	9.37:g.77752511G>A	ENSP00000340836:p.Val156Ile	NA	Q5W126|Q96IJ4	37	CCDS6651.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878070	0.91664	.	.	ENSG00000134996	ENST00000346234	T	0.71698	-0.59	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.77294	0.4109	L	0.31752	0.955	0.80722	D	1	D;D	0.89917	1.0;0.959	D;P	0.78314	0.991;0.893	T	0.77313	-0.2634	10	0.45353	T	0.12	-17.9865	18.188	0.89798	0.0:0.0:1.0:0.0	.	156;156	A8K646;Q92882	.;OSTF1_HUMAN	I	156	ENSP00000340836:V156I	ENSP00000340836:V156I	V	+	1	0	OSTF1	76942331	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.757000	0.91657	2.585000	0.87301	0.563000	0.77884	GTC	OSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052704.1		+	ENST00000346234.6	Missense_Mutation	SNP	9 : 77752511 - 77752511 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	262	24
PFKP	5214	broad.mit.edu	37	10	3143180	3143180	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:3143180G>A	ENST00000381075.2	+	5	452	c.228G>A	c.(226-228)cgG>cgA	p.R76R	PFKP_ENST00000421751.1_Intron|PFKP_ENST00000381125.4_Intron	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	0					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GTCCTGGCCGGCATGCTCTGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	106	109			NA	NA	10		NA											NA				3143180		876	1991	2867	SO:0001819	synonymous_variant			AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	5214	5214	2.7.1.11		8878	protein-coding gene	gene with protein product	Phosphofructokinase, platelet type	171840			NA		Standard	NM_002627	NM_002627	NA	Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381075.2:c.228G>A	10.37:g.3143180G>A		NA	Q5VSR8	37	CCDS55698.1																																																																																			PFKP-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046455.1		+	ENST00000381075.2	Silent	SNP	10 : 3143180 - 3143180 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	418	6
POFUT2	23275	broad.mit.edu	37	21	46705777	46705777	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr21:46705777G>A	ENST00000331343.7	-	2	224	c.198C>T	c.(196-198)atC>atT	p.I66I	POFUT2_ENST00000349485.5_Silent_p.I66I	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	66					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GGAGAGAGGCGATTCGGATAT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,4406		0,0,2203	86	93	91		198,198	-9.3	0	21		91	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	POFUT2	NM_015227.4,NM_133635.4	,	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	,	66/425,66/430	46705777	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	23275	23275	2.4.1.221	Fucosyltransferases	14683	protein-coding gene	gene with protein product	peptide-O-fucosyltransferase, GDP-fucose protein O-fucosyltransferase 2	610249	chromosome 21 open reading frame 80	C21orf80	NA		Standard	NM_015227	NM_133635	NA	Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000331343.7:c.198C>T	21.37:g.46705777G>A		NA	Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	37	CCDS13721.1																																																																																			POFUT2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000192571.3		-	ENST00000331343.7	Silent	SNP	21 : 46705777 - 46705777 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	511	5
POLR3B	55703	broad.mit.edu	37	12	106824112	106824112	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:106824112G>C	ENST00000228347.4	+	14	1547	c.1325G>C	c.(1324-1326)cGc>cCc	p.R442P	POLR3B_ENST00000539066.1_Missense_Mutation_p.R384P	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	442					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTGCTGTCTCGCTTGTCATAT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	121	120			NA	NA	12		NA											NA				106824112		2203	4300	6503	SO:0001583	missense			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503	55703	55703		RNA polymerase subunits	30348	protein-coding gene	gene with protein product		614366			NA	12391170	Standard	NM_018082	NM_018082	NA	Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1325G>C	12.37:g.106824112G>C	ENSP00000228347:p.Arg442Pro	NA	A8K6H0|Q9NW59	37	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099309	0.94197	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	T;T	0.80480	-1.38;-1.38	5.71	5.71	0.89125	RNA polymerase Rpb2, domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.93993	0.8076	H	0.97340	3.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95590	0.8654	10	0.87932	D	0	-13.9996	19.8449	0.96704	0.0:0.0:1.0:0.0	.	442	Q9NW08	RPC2_HUMAN	P	442;442;384	ENSP00000228347:R442P;ENSP00000445721:R384P	ENSP00000228347:R442P	R	+	2	0	POLR3B	105348242	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.434000	0.97515	2.680000	0.91292	0.655000	0.94253	CGC	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407166.1		+	ENST00000228347.4	Missense_Mutation	SNP	12 : 106824112 - 106824112 C PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	451	5
PPL	5493	broad.mit.edu	37	16	4935121	4935121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:4935121G>A	ENST00000345988.2	-	22	3624	c.3535C>T	c.(3535-3537)Cgg>Tgg	p.R1179W	PPL_ENST00000590782.2_Missense_Mutation_p.R1177W	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1179					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GGGTCTGGCCGCACGATCTCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	97	100			NA	NA	16		NA											NA				4935121		2197	4300	6497	SO:0001583	missense			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898	5493	5493			9273	protein-coding gene	gene with protein product		602871			NA	9570964, 9521878	Standard	NM_002705	NM_002705	NA	Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3535C>T	16.37:g.4935121G>A	ENSP00000340510:p.Arg1179Trp	NA	O60314|O60454|Q14C98	37	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222315	0.79464	.	.	ENSG00000118898	ENST00000345988	T	0.56941	0.43	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74520	0.3727	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76473	-0.2946	10	0.87932	D	0	.	19.7311	0.96182	0.0:0.0:1.0:0.0	.	1179	O60437	PEPL_HUMAN	W	1179	ENSP00000340510:R1179W	ENSP00000340510:R1179W	R	-	1	2	PPL	4875122	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	5.493000	0.66899	2.677000	0.91161	0.561000	0.74099	CGG	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251715.1		-	ENST00000345988.2	Missense_Mutation	SNP	16 : 4935121 - 4935121 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	471	6
PPP3CA	5530	broad.mit.edu	37	4	101947138	101947138	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:101947138G>A	ENST00000394854.3	-	14	2133	c.1450C>T	c.(1450-1452)Ccg>Tcg	p.P484S	PPP3CA_ENST00000394853.4_Missense_Mutation_p.P474S|PPP3CA_ENST00000507176.1_Missense_Mutation_p.P386S|PPP3CA_ENST00000323055.6_Missense_Mutation_p.P432S|PPP3CA_ENST00000523694.2_Missense_Mutation_p.P417S|PPP3CA_ENST00000512215.1_Missense_Mutation_p.P252S	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	484	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CTGCGAGGCGGCATCCTCTCA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	197	201			NA	NA	4		NA											NA				101947138		2203	4300	6503	SO:0001583	missense				CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	5530	5530	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase, catalytic subunits	9314	protein-coding gene	gene with protein product	calcineurin A alpha, protein phosphatase 2B, catalytic subunit, alpha isoform	114105	protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha), protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform	CALN, CALNA	NA	2848250, 1659808	Standard	NM_000944	NM_000944	NA	Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.1450C>T	4.37:g.101947138G>A	ENSP00000378323:p.Pro484Ser	NA	A8K3B7|B5BUA2|Q8TAW9	37	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.913627	0.72983	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T;T	0.05319	3.46;3.46;3.46;3.46;3.46;3.46	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.35248	0.0925	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.998;1.0;1.0	T	0.28650	-1.0037	10	0.87932	D	0	-9.9218	20.0473	0.97613	0.0:0.0:1.0:0.0	.	484;252;432;474;386;417	Q08209;A8W6Z8;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.;.	S	252;484;432;474;386;417	ENSP00000422781:P252S;ENSP00000378323:P484S;ENSP00000320580:P432S;ENSP00000378322:P474S;ENSP00000422990:P386S;ENSP00000429350:P417S	ENSP00000320580:P432S	P	-	1	0	PPP3CA	102166161	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.502000	0.97981	2.722000	0.93159	0.655000	0.94253	CCG	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258379.2		-	ENST00000394854.3	Missense_Mutation	SNP	4 : 101947138 - 101947138 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	475	5
PRPSAP1	5635	broad.mit.edu	37	17	74309083	74309083	+	Silent	SNP	G	G	A	rs148092431		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:74309083G>A	ENST00000446526.3	-	9	1312	c.867C>T	c.(865-867)gaC>gaT	p.D289D	PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Silent_p.D186D	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	260					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						TCTCCACATCGTCAATAATGT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		2,4404	4.2+/-10.8	0,2,2201	100	98	99		867	-7.9	0	17	dbSNP_134	99	0,8600		0,0,4300	no	coding-synonymous	PRPSAP1	NM_002766.2		0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154		289/386	74309083	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542	5635	5635			9466	protein-coding gene	gene with protein product		601249			NA	8660991	Standard	NM_002766	NM_002766	NA	Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.867C>T	17.37:g.74309083G>A		NA	B2R6M4|Q96H06	37	CCDS11743.2																																																																																			PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342480.2		-	ENST00000446526.3	Silent	SNP	17 : 74309083 - 74309083 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	457	40
PSMB4	5692	broad.mit.edu	37	1	151372521	151372521	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:151372521G>A	ENST00000290541.6	+	2	259	c.205G>A	c.(205-207)Gca>Aca	p.A69T		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	69					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTGATTGCCGCAGACATGCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	124	124			NA	NA	1		NA											NA				151372521		2203	4300	6503	SO:0001583	missense			D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377	5692	5692		Proteasome (prosome, macropain) subunits	9541	protein-coding gene	gene with protein product		602177			NA	7918633	Standard	NM_002796	NM_002796	NA	Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.205G>A	1.37:g.151372521G>A	ENSP00000290541:p.Ala69Thr	NA	B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	37	CCDS996.1	.	.	.	.	.	.	.	.	.	.	G	37	6.114497	0.97296	.	.	ENSG00000159377	ENST00000290541	T	0.41758	0.99	5.34	5.34	0.76211	Proteasome, beta-type subunit, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.70487	0.969;0.846	T	0.59899	-0.7367	10	0.66056	D	0.02	-10.9451	17.6208	0.88080	0.0:0.0:1.0:0.0	.	69;69	B4DFL3;P28070	.;PSB4_HUMAN	T	69	ENSP00000290541:A69T	ENSP00000290541:A69T	A	+	1	0	PSMB4	149639145	1.000000	0.71417	0.881000	0.34555	0.995000	0.86356	9.355000	0.97087	2.502000	0.84385	0.561000	0.74099	GCA	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034885.1		+	ENST00000290541.6	Missense_Mutation	SNP	1 : 151372521 - 151372521 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	524	5
PTPN5	84867	broad.mit.edu	37	11	18754215	18754215	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:18754215G>A	ENST00000396170.1	-	12	2421	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	PTPN5_ENST00000396171.4_Missense_Mutation_p.A418V|PTPN5_ENST00000358540.2_Missense_Mutation_p.A418V|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396168.1_Missense_Mutation_p.A394V|PTPN5_ENST00000396167.2_Missense_Mutation_p.A386V|PTPN5_ENST00000477854.1_Missense_Mutation_p.A222V	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	418	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						ACCGTCGTACGCCACCTGCTC	0.572		NA									OREG0020824	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	126	131			NA	NA	11		NA											NA				18754215		2199	4293	6492	SO:0001583	missense			BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786	84867	84867		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9657	protein-coding gene	gene with protein product		176879			NA	1714595	Standard	NM_001039970	NM_001278236	NA	Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000396170.1:c.1157C>T	11.37:g.18754215G>A	ENSP00000379473:p.Ala386Val	728	D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	37	CCDS41626.1	.	.	.	.	.	.	.	.	.	.	g	6.138	0.393746	0.11638	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.55	3.19	0.36642	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.490245	0.20026	N	0.100810	T	0.56819	0.2011	N	0.04746	-0.17	0.21416	N	0.999693	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47446	-0.9117	10	0.02654	T	1	.	4.3729	0.11256	0.6621:0.0:0.1925:0.1454	.	418;386	P54829;B3KXG7	PTN5_HUMAN;.	V	222;418;386;418;386;394	ENSP00000435056:A222V;ENSP00000351342:A418V;ENSP00000379473:A386V;ENSP00000379474:A418V;ENSP00000379470:A386V;ENSP00000379471:A394V	ENSP00000351342:A418V	A	-	2	0	PTPN5	18710791	0.453000	0.25721	0.545000	0.28153	0.995000	0.86356	1.154000	0.31688	0.372000	0.24591	-0.285000	0.09966	GCG	PTPN5-002	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259197.1		-	ENST00000396170.1	Missense_Mutation	SNP	11 : 18754215 - 18754215 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	510	32
PTPRK	5796	broad.mit.edu	37	6	128306921	128306921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:128306921G>A	ENST00000368226.4	-	22	3511	c.3196C>T	c.(3196-3198)Cgg>Tgg	p.R1066W	PTPRK_ENST00000368227.3_Missense_Mutation_p.R1083W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1072W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1088W|PTPRK_ENST00000368215.3_Missense_Mutation_p.R1065W|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1084W|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1098W	NM_002844.3	NP_002835.2	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1065	Tyrosine-protein phosphatase 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTGACTCGCCGGATAAAGGAA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	150	154			NA	NA	6		NA											NA				128306921		2203	4300	6503	SO:0001583	missense			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894	5796	5796		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	9674	protein-coding gene	gene with protein product		602545			NA	9047348, 8663237	Standard		NM_002844	NA	Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368226.4:c.3196C>T	6.37:g.128306921G>A	ENSP00000357209:p.Arg1066Trp	NA	Q14763|Q5TG10|Q5TG11	37	CCDS5137.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580797	0.86748	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.82	5.82	0.92795	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.94716	0.8295	H	0.94925	3.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.991;0.985	D	0.95321	0.8420	10	0.87932	D	0	.	20.0864	0.97801	0.0:0.0:1.0:0.0	.	1088;1072;1065;1066	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	W	1066;1083;1088;1072;1084;1065;1098	ENSP00000357209:R1066W;ENSP00000357210:R1083W;ENSP00000432973:R1088W;ENSP00000357196:R1072W;ENSP00000357193:R1084W;ENSP00000357198:R1065W;ENSP00000357190:R1098W	ENSP00000357190:R1098W	R	-	1	2	PTPRK	128348614	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.548000	0.67255	2.753000	0.94483	0.650000	0.86243	CGG	PTPRK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042161.2		-	ENST00000368226.4	Missense_Mutation	SNP	6 : 128306921 - 128306921 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	162	4
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	103	101			NA	NA	2		NA											NA				109371498		2198	4282	6480	SO:0001819	synonymous_variant			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201	5903	5903		Tetratricopeptide (TTC) repeat domain containing	9848	protein-coding gene	gene with protein product		601181	acute necrotizing encephalopathy 1 (autosomal dominant)	ANE1	NA	7724562, 19118815	Standard	NM_006267	NM_006267	NA	Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A		NA	Q13074|Q15280|Q53TE2|Q59FH7	37	CCDS2079.1																																																																																			RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253594.1		+	ENST00000283195.6	Silent	SNP	2 : 109371498 - 109371498 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	548	7
RBM6	10180	broad.mit.edu	37	3	50085685	50085685	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:50085685T>G	ENST00000443081.1	+	7	2088	c.1169T>G	c.(1168-1170)cTa>cGa	p.L390R	RBM6_ENST00000266022.4_Missense_Mutation_p.L522R|RBM6_ENST00000422955.1_5'UTR|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_5'UTR			P78332	RBM6_HUMAN	RNA binding motif protein 6	522					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CAGGGAACTCTAATGATCCAG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	91	92			NA	NA	3		NA											NA				50085685		2203	4300	6503	SO:0001583	missense			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534	10180	10180		RNA binding motif (RRM) containing, G patch domain containing	9903	protein-coding gene	gene with protein product		606886			NA	10352938	Standard	NM_005777	NM_001167582	NA	Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000443081.1:c.1169T>G	3.37:g.50085685T>G	ENSP00000396466:p.Leu390Arg	NA	O60549|O75524	37		.	.	.	.	.	.	.	.	.	.	T	18.37	3.608302	0.66558	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.10192	2.9;2.9	5.62	5.62	0.85841	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.208568	0.30859	N	0.008727	T	0.29423	0.0733	M	0.71206	2.165	0.80722	D	1	D;D	0.55800	0.973;0.973	D;P	0.64144	0.922;0.898	T	0.00998	-1.1486	9	.	.	.	-3.54	13.227	0.59921	0.0:0.0:0.0:1.0	.	390;522	E9PGM9;P78332	.;RBM6_HUMAN	R	522;390	ENSP00000266022:L522R;ENSP00000396466:L390R	.	L	+	2	0	RBM6	50060689	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.266000	0.58871	2.141000	0.66446	0.528000	0.53228	CTA	RBM6-009	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000345553.2		+	ENST00000443081.1	Missense_Mutation	SNP	3 : 50085685 - 50085685 G PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	155	18
RFTN2	130132	broad.mit.edu	37	2	198498522	198498522	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:198498522T>C	ENST00000295049.4	-	4	1174	c.638A>G	c.(637-639)gAa>gGa	p.E213G		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	NA						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						ATGAAGTTCTTCCTCAATTCC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													236	211	220			NA	NA	2		NA											NA				198498522		2203	4300	6503	SO:0001583	missense			AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944	130132	130132			26402	protein-coding gene	gene with protein product			chromosome 2 open reading frame 11	C2orf11	NA		Standard	NM_144629	NM_144629	NA	Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.638A>G	2.37:g.198498522T>C	ENSP00000295049:p.Glu213Gly	NA	Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	37	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.387682	0.61956	.	.	ENSG00000162944	ENST00000295049	T	0.33865	1.39	5.27	2.9	0.33743	.	2.309500	0.01453	N	0.015562	T	0.39462	0.1079	L	0.57536	1.79	0.34698	D	0.72643	B	0.17268	0.021	B	0.15484	0.013	T	0.33548	-0.9864	10	0.48119	T	0.1	-12.8873	8.1485	0.31126	0.0:0.1588:0.0:0.8412	.	213	Q52LD8	RFTN2_HUMAN	G	213	ENSP00000295049:E213G	ENSP00000295049:E213G	E	-	2	0	RFTN2	198206767	1.000000	0.71417	0.431000	0.26735	0.956000	0.61745	2.615000	0.46368	0.945000	0.37605	0.533000	0.62120	GAA	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256106.2		-	ENST00000295049.4	Missense_Mutation	SNP	2 : 198498522 - 198498522 C PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	386	31
RGPD1	400966	broad.mit.edu	37	2	87140987	87140987	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:87140987G>A	ENST00000398193.3	+	1	53	c.15G>A	c.(13-15)aaG>aaA	p.K5K	RGPD1_ENST00000409776.2_Intron			Q68DN6	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 1	0					intracellular transport		binding			breast(1)|endometrium(1)|lung(1)	3						GGCGCAGCAAGGCCTACGGGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	28	25			NA	NA	2		NA											NA				87140987		2182	4283	6465	SO:0001819	synonymous_variant				CCDS46358.1, CCDS46358.2	2p11.2	2013-09-24			ENSG00000187627	ENSG00000187627	400966	400966		Tetratricopeptide (TTC) repeat domain containing	32414	protein-coding gene	gene with protein product		612704			NA	15710750, 15815621	Standard	NM_001024457	NM_001024457	NA	Approved	RGP1	uc021vkh.1	P0DJD0	OTTHUMG00000153248	ENST00000398193.3:c.15G>A	2.37:g.87140987G>A		NA	P0C839|Q6V1X0	37																																																																																				RGPD1-201	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			+	ENST00000398193.3	Silent	SNP	2 : 87140987 - 87140987 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	87	4
RGPD4	285190	broad.mit.edu	37	2	108475980	108475980	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:108475980C>T	ENST00000408999.3	+	11	1681	c.1604C>T	c.(1603-1605)gCg>gTg	p.A535V	RGPD4_ENST00000354986.4_Missense_Mutation_p.A535V	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	535					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGGTGGGATGCGGTTTGTACT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	30	30			NA	NA	2		NA											NA				108475980		692	1590	2282	SO:0001583	missense			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862	285190	285190		Tetratricopeptide (TTC) repeat domain containing	32417	protein-coding gene	gene with protein product		612707			NA	15710750, 15815621	Standard	XM_496581	NM_182588	NA	Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.1604C>T	2.37:g.108475980C>T	ENSP00000386810:p.Ala535Val	NA	B9A029	37	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	12.95	2.090060	0.36855	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.55234	0.53;0.53	2.6	2.6	0.31112	.	.	.	.	.	T	0.68522	0.3010	M	0.69823	2.125	0.35765	D	0.820443	D	0.89917	1.0	D	0.76071	0.987	T	0.77351	-0.2620	9	0.72032	D	0.01	-20.8394	11.8656	0.52490	0.0:1.0:0.0:0.0	.	535	Q7Z3J3	RGPD4_HUMAN	V	535;535;293	ENSP00000347081:A535V;ENSP00000386810:A535V	ENSP00000347081:A535V	A	+	2	0	RGPD4	107842412	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	6.722000	0.74735	1.299000	0.44798	0.152000	0.16155	GCG	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330096.2		+	ENST00000408999.3	Missense_Mutation	SNP	2 : 108475980 - 108475980 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	603	5
RP1	6101	broad.mit.edu	37	8	55539165	55539165	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr8:55539165C>G	ENST00000220676.1	+	4	2871	c.2723C>G	c.(2722-2724)gCt>gGt	p.A908G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	908					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAGGCTATTGCTCATCATTCA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(91;1014 1389 7634 14542 40420)							NA				0													30	32	31			NA	NA	8		NA											NA				55539165		2199	4295	6494	SO:0001583	missense			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237	6101	6101			10263	protein-coding gene	gene with protein product		603937			NA	1783394	Standard	NM_006269	NM_006269	NA	Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2723C>G	8.37:g.55539165C>G	ENSP00000220676:p.Ala908Gly	NA		37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838250	0.32513	.	.	ENSG00000104237	ENST00000220676	T	0.47869	0.83	5.65	4.76	0.60689	.	0.812455	0.10842	N	0.628097	T	0.35189	0.0923	L	0.29908	0.895	0.09310	N	0.999998	P	0.39282	0.666	B	0.33339	0.162	T	0.20273	-1.0280	10	0.72032	D	0.01	.	10.4038	0.44246	0.0:0.7852:0.137:0.0778	.	908	P56715	RP1_HUMAN	G	908	ENSP00000220676:A908G	ENSP00000220676:A908G	A	+	2	0	RP1	55701718	0.936000	0.31750	0.399000	0.26333	0.958000	0.62258	1.179000	0.31993	1.357000	0.45904	0.655000	0.94253	GCT	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378532.2		+	ENST00000220676.1	Missense_Mutation	SNP	8 : 55539165 - 55539165 G PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	174	15
RTF1	23168	broad.mit.edu	37	15	41763442	41763442	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:41763442G>A	ENST00000389629.4	+	8	1110	c.1098G>A	c.(1096-1098)cgG>cgA	p.R366R		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	366	Plus3.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	p.R241R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GATTATCACGGCATAAGCTAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	kidney(1)											164	155	158			NA	NA	15		NA											NA				41763442		2203	4300	6503	SO:0001819	synonymous_variant			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815	23168	23168			28996	protein-coding gene	gene with protein product		611633	KIAA0252	KIAA0252	NA	15632063	Standard	NM_015138	NM_015138	NA	Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1098G>A	15.37:g.41763442G>A		NA	Q96BX6	37	CCDS32200.2																																																																																			RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258111.1		+	ENST00000389629.4	Silent	SNP	15 : 41763442 - 41763442 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	473	5
SASH1	23328	broad.mit.edu	37	6	148853965	148853965	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:148853965A>G	ENST00000367467.3	+	14	2072	c.1597A>G	c.(1597-1599)Acc>Gcc	p.T533A		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	533							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGATTCCTCAACCAGCAACCG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	99	99			NA	NA	6		NA											NA				148853965		2203	4300	6503	SO:0001583	missense			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961	23328	23328		SAM and SH3 domain containing, Sterile alpha motif (SAM) domain containing	19182	protein-coding gene	gene with protein product		607955			NA	9872452, 12771949	Standard	NM_015278	NM_015278	NA	Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1597A>G	6.37:g.148853965A>G	ENSP00000356437:p.Thr533Ala	NA	Q5TGN5|Q8TAI0|Q9H7R7	37	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	A	6.118	0.389937	0.11581	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.42131	0.98	5.27	2.89	0.33648	.	0.166954	0.56097	N	0.000035	T	0.07683	0.0193	N	0.11427	0.14	0.29013	N	0.886778	B;B	0.21309	0.054;0.004	B;B	0.20955	0.032;0.017	T	0.38735	-0.9647	10	0.17369	T	0.5	-14.7724	9.7654	0.40557	0.7217:0.0:0.2783:0.0	.	514;533	Q6P4R9;O94885	.;SASH1_HUMAN	A	533;294	ENSP00000356437:T533A	ENSP00000356437:T533A	T	+	1	0	SASH1	148895658	0.976000	0.34144	0.893000	0.35052	0.867000	0.49689	1.935000	0.40173	0.039000	0.15632	-1.139000	0.01908	ACC	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042619.1		+	ENST00000367467.3	Missense_Mutation	SNP	6 : 148853965 - 148853965 G PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	304	9
SEMA6D	80031	broad.mit.edu	37	15	48063190	48063190	+	Silent	SNP	G	G	A	rs144939945		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:48063190G>A	ENST00000316364.5	+	19	2869	c.2430G>A	c.(2428-2430)ccG>ccA	p.P810P	SEMA6D_ENST00000389428.3_Silent_p.P735P|SEMA6D_ENST00000358066.4_Silent_p.P748P|SEMA6D_ENST00000389432.2_Silent_p.P767P|SEMA6D_ENST00000354744.4_Silent_p.P754P|SEMA6D_ENST00000558014.1_Silent_p.P748P|SEMA6D_ENST00000389433.2_Silent_p.P791P|SEMA6D_ENST00000537942.1_Silent_p.P748P|SEMA6D_ENST00000536845.2_Silent_p.P810P|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000355997.3_3'UTR	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	810					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.P748P(1)|p.P810P(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGTTTTTTCCGTCTAGTCCGC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	endometrium(2)						A	,,,,,	1,4395	2.1+/-5.4	0,1,2197	87	88	88		2244,2244,2205,2262,2430,	-2.9	0.9	15	dbSNP_134	88	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,utr-3	SEMA6D	NM_001198999.1,NM_020858.1,NM_153616.1,NM_153617.1,NM_153618.1,NM_153619.1	,,,,,	0,1,6494	AA,AG,GG	NA	0.0,0.0227,0.0077	,,,,,	748/1012,748/1012,735/999,754/1018,810/1074,	48063190	1,12989	2198	4297	6495	SO:0001819	synonymous_variant			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872	80031	80031		Semaphorins	16770	protein-coding gene	gene with protein product		609295			NA	12110693, 14977921	Standard	NM_024966	NM_020858	NA	Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2430G>A	15.37:g.48063190G>A		NA	A6NF10|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	37	CCDS32225.1																																																																																			SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416868.1		+	ENST00000316364.5	Silent	SNP	15 : 48063190 - 48063190 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	498	30
SEPT5	5413	broad.mit.edu	37	22	19707654	19707654	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr22:19707654G>A	ENST00000438754.2	+	4	562	c.282G>A	c.(280-282)acG>acA	p.T94T	SEPT5_ENST00000406395.1_Silent_p.T85T|SEPT5_ENST00000455784.2_Silent_p.T85T|SEPT5_ENST00000383045.3_Silent_p.T94T	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	85					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TCAGCCAGACGGTAGAGATTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,4402		0,0,2201	94	80	85		282,255	-6.1	0.7	22		85	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	SEPT5	NM_001009939.2,NM_002688.5	,	0,1,6499	AA,AG,GG	NA	0.0116,0.0,0.0077	,	94/347,85/370	19707654	1,12999	2201	4299	6500	SO:0001819	synonymous_variant			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702	5413	5413		Septins	9164	protein-coding gene	gene with protein product		602724	peanut-like 1 (Drosophila)	PNUTL1	NA	9385360, 9611266	Standard	NM_002688	NM_002688	NA	Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000438754.2:c.282G>A	22.37:g.19707654G>A		NA	O15251	37	CCDS56224.1																																																																																			SEPT5-002	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317938.5		+	ENST00000438754.2	Silent	SNP	22 : 19707654 - 19707654 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	191	4
SLC35G5	83650	broad.mit.edu	37	8	11188775	11188775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr8:11188775G>A	ENST00000382435.4	+	1	379	c.160G>A	c.(160-162)Gtg>Atg	p.V54M		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	54	DUF6 1.					integral to membrane					NA						TGCTGGCTTCGTGGGCCCCCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	78	77			NA	NA	8		NA											NA				11188775		2203	4300	6503	SO:0001583	missense			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710	83650	83650		Solute carriers	15546	protein-coding gene	gene with protein product		615199	acyl-malonyl condensing enzyme 1-like 2	AMAC, AMAC1L2	NA		Standard	NM_054028	NM_054028	NA	Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.160G>A	8.37:g.11188775G>A	ENSP00000371872:p.Val54Met	NA	A2RRL6	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350573	0.41599	.	.	ENSG00000177710	ENST00000382435	T	0.52057	0.68	0.34	0.34	0.15985	.	0.000000	0.40469	N	0.001093	T	0.48314	0.1493	L	0.32530	0.975	0.34820	D	0.738583	D	0.89917	1.0	D	0.72982	0.979	T	0.54070	-0.8348	10	0.33940	T	0.23	-6.0135	6.5344	0.22344	2.0E-4:0.0:0.9998:0.0	.	54	Q96KT7	S35G5_HUMAN	M	54	ENSP00000371872:V54M	ENSP00000371872:V54M	V	+	1	0	SLC35G5	11226185	1.000000	0.71417	0.970000	0.41538	0.304000	0.27724	1.667000	0.37471	0.426000	0.26116	0.089000	0.15464	GTG	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207313.2		+	ENST00000382435.4	Missense_Mutation	SNP	8 : 11188775 - 11188775 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	355	5
SLC6A1	6529	broad.mit.edu	37	3	11067472	11067472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:11067472C>T	ENST00000287766.4	+	9	1284	c.863C>T	c.(862-864)gCg>gTg	p.A288V	SLC6A1_ENST00000536032.1_Missense_Mutation_p.A110V	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	288					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TGGCTGGATGCGGCAACCCAG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	106	106			NA	NA	3		NA											NA				11067472		2203	4300	6503	SO:0001583	missense				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103	6529	6529		Solute carriers	11042	protein-coding gene	gene with protein product	GABA transporter 1	137165	solute carrier family 6 (neurotransmitter transporter, GABA), member 1		NA	8530094	Standard	NM_003042	NM_003042	NA	Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.863C>T	3.37:g.11067472C>T	ENSP00000287766:p.Ala288Val	NA	Q8N4K8	37	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030610	0.93575	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	D;D	0.91124	-2.79;-2.79	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000004	D	0.97461	0.9169	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99016	1.0816	10	0.87932	D	0	.	18.4501	0.90700	0.0:1.0:0.0:0.0	.	288	P30531	SC6A1_HUMAN	V	288;110	ENSP00000287766:A288V;ENSP00000445171:A110V	ENSP00000287766:A288V	A	+	2	0	SLC6A1	11042472	1.000000	0.71417	0.984000	0.44739	0.797000	0.45037	7.449000	0.80643	2.595000	0.87683	0.561000	0.74099	GCG	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000102767.2		+	ENST00000287766.4	Missense_Mutation	SNP	3 : 11067472 - 11067472 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	471	5
SORCS2	57537	broad.mit.edu	37	4	7716916	7716916	+	Silent	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:7716916C>T	ENST00000507866.2	+	17	2239	c.2130C>T	c.(2128-2130)taC>taT	p.Y710Y	SORCS2_ENST00000329016.9_Silent_p.Y538Y	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	710						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CCAGCGACTACGGATTTGAGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		2,4028		0,2,2013	149	155	153		2130	0.4	1	4		153	0,8326		0,0,4163	no	coding-synonymous	SORCS2	NM_020777.2		0,2,6176	TT,TC,CC	NA	0.0,0.0496,0.0162		710/1160	7716916	2,12354	2015	4163	6178	SO:0001819	synonymous_variant			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985	57537	57537			16698	protein-coding gene	gene with protein product		606284			NA	11499680	Standard	NM_020777	NM_020777	NA	Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2130C>T	4.37:g.7716916C>T		NA	Q9P2L7	37	CCDS47008.1																																																																																			SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358685.4		+	ENST00000507866.2	Silent	SNP	4 : 7716916 - 7716916 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	605	52
SPANXD	64648	broad.mit.edu	37	X	140785682	140785682	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chrX:140785682G>C	ENST00000370515.3	-	2	567	c.234C>G	c.(232-234)aaC>aaG	p.N78K		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D	NA										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TTTGGAGGGGGTTGATTCTGT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	171	179			NA	NA	X		NA											NA				140785682		2199	4273	6472	SO:0001583	missense			AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406	64648	64648			14332	protein-coding gene	gene with protein product	cancer/testis antigen family 11, member 4	300670, 300671	SPANX family, member E	SPANXE	NA		Standard		NM_032417	NA	Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.234C>G	X.37:g.140785682G>C	ENSP00000359546:p.Asn78Lys	NA		37	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	8.302	0.820191	0.16678	.	.	ENSG00000196406	ENST00000370515	T	0.09445	2.98	.	.	.	.	.	.	.	.	T	0.25457	0.0619	.	.	.	0.09310	N	1	D	0.69078	0.997	D	0.81914	0.995	T	0.06789	-1.0807	6	0.72032	D	0.01	.	.	.	.	.	78	Q9BXN6	SPNXD_HUMAN	K	78	ENSP00000359546:N78K	ENSP00000359546:N78K	N	-	3	2	SPANXD	140613348	0.055000	0.20627	0.048000	0.18961	0.048000	0.14542	0.075000	0.14686	0.068000	0.16574	0.068000	0.15388	AAC	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058598.1		-	ENST00000370515.3	Missense_Mutation	SNP	X : 140785682 - 140785682 C PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	446	50
SSBP3	23648	broad.mit.edu	37	1	54708959	54708959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:54708959C>T	ENST00000371320.3	-	10	1075	c.665G>A	c.(664-666)gGc>gAc	p.G222D	SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D|SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D|SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	222	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TGGTCTCATGCCGCTGCCGTA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	153	150			NA	NA	1		NA											NA				54708959		2203	4300	6503	SO:0001583	missense				CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216	23648	23648			15674	protein-coding gene	gene with protein product		607390	single-stranded DNA-binding protein 3		NA	12079286	Standard	NM_018070	NM_145716	NA	Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.665G>A	1.37:g.54708959C>T	ENSP00000360371:p.Gly222Asp	NA	A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	37	CCDS591.1	.	.	.	.	.	.	.	.	.	.	c	25.8	4.676502	0.88445	.	.	ENSG00000157216	ENST00000417664;ENST00000371320;ENST00000371319;ENST00000357475;ENST00000444533;ENST00000525990	.	.	.	3.94	3.94	0.45596	.	0.000000	0.85682	U	0.000000	T	0.78717	0.4327	M	0.75085	2.285	0.80722	D	1	D;P;P	0.89917	1.0;0.951;0.866	D;P;P	0.97110	1.0;0.743;0.686	T	0.81534	-0.0889	9	0.59425	D	0.04	-1.6526	17.3039	0.87189	0.0:1.0:0.0:0.0	.	195;202;222	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	D	112;222;195;202;53;85	.	ENSP00000350067:G202D	G	-	2	0	SSBP3	54481547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.969000	0.76092	2.493000	0.84123	0.479000	0.44913	GGC	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022721.1		-	ENST00000371320.3	Missense_Mutation	SNP	1 : 54708959 - 54708959 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	926	7
STK31	56164	broad.mit.edu	37	7	23792437	23792437	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:23792437A>G	ENST00000354639.3	+	9	1514	c.1050A>G	c.(1048-1050)atA>atG	p.I350M	STK31_ENST00000355870.3_Missense_Mutation_p.I373M|STK31_ENST00000428484.1_Missense_Mutation_p.I350M|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.I373M	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	373							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGATGGAAATACTGAAAGAAA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	67	67			NA	NA	7		NA											NA				23792437		2203	4300	6503	SO:0001583	missense			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335	56164	56164		Tudor domain containing	11407	protein-coding gene	gene with protein product		605790			NA	11279525	Standard	NM_031414	NM_031414	NA	Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000354639.3:c.1050A>G	7.37:g.23792437A>G	ENSP00000346660:p.Ile350Met	NA	B7WPP5|Q6PCD3|Q9BXH8	37	CCDS43556.1	.	.	.	.	.	.	.	.	.	.	A	1.604	-0.525678	0.04141	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	4.94	-4.71	0.03279	.	0.667143	0.15196	N	0.275271	T	0.05731	0.0150	N	0.20685	0.6	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.36841	-0.9731	10	0.19147	T	0.46	1.7106	5.3799	0.16186	0.3532:0.2924:0.3544:0.0	.	373;373	B4DZ06;Q9BXU1	.;STK31_HUMAN	M	373;373;350;350	ENSP00000348132:I373M;ENSP00000411852:I373M;ENSP00000346660:I350M;ENSP00000406146:I350M	ENSP00000346660:I350M	I	+	3	3	STK31	23758962	0.000000	0.05858	0.002000	0.10522	0.209000	0.24338	-1.076000	0.03420	-0.604000	0.05760	-0.376000	0.06991	ATA	STK31-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326723.1		+	ENST00000354639.3	Missense_Mutation	SNP	7 : 23792437 - 23792437 G PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	191	19
SYNE1	23345	broad.mit.edu	37	6	152457816	152457816	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:152457816G>A	ENST00000367255.5	-	141	26197	c.25596C>T	c.(25594-25596)gaC>gaT	p.D8532D	SYNE1_ENST00000448038.1_Silent_p.D8484D|SYNE1_ENST00000356820.4_Silent_p.D3056D|SYNE1_ENST00000341594.5_Silent_p.D8144D|SYNE1_ENST00000539504.1_Silent_p.D687D|SYNE1_ENST00000423061.1_Silent_p.D8484D|SYNE1_ENST00000265368.4_Silent_p.D8532D|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Silent_p.D710D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8532					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCACACTCGGTCCCAGCGCC	0.612		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	63	65			NA	NA	6		NA											NA				152457816		2203	4300	6503	SO:0001819	synonymous_variant			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25596C>T	6.37:g.152457816G>A		NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2																																																																																			SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Silent	SNP	6 : 152457816 - 152457816 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	264	5
TGFBR1	7046	broad.mit.edu	37	9	101900330	101900330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:101900330G>A	ENST00000374994.4	+	4	881	c.764G>A	c.(763-765)cGt>cAt	p.R255H	TGFBR1_ENST00000550253.1_Missense_Mutation_p.R186H|TGFBR1_ENST00000374990.2_Missense_Mutation_p.R178H|TGFBR1_ENST00000552516.1_Missense_Mutation_p.R259H	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	255	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	p.R255L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTAATGTTACGTCATGAAAAC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	prostate(1)											138	136	137			NA	NA	9		NA											NA				101900330		2203	4300	6503	SO:0001583	missense				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799	7046	7046			11772	protein-coding gene	gene with protein product	activin A receptor type II-like kinase, 53kDa	190181	transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD), multiple self-healing squamous epithelioma	MSSE, ESS1	NA	1319842, 8530052, 21358634	Standard		NM_001130916	NA	Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.764G>A	9.37:g.101900330G>A	ENSP00000364133:p.Arg255His	NA	Q6IR47|Q706C0|Q706C1	37	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510468	0.85389	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000549021;ENST00000550253	D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32	5.36	5.36	0.76844	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95993	0.8695	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95388	0.8479	9	.	.	.	.	17.8646	0.88792	0.0:0.0:1.0:0.0	.	178;255	P36897-3;P36897	.;TGFR1_HUMAN	H	255;255;178;259;109;186	ENSP00000364133:R255H;ENSP00000364129:R178H;ENSP00000447297:R259H;ENSP00000449028:R109H;ENSP00000450052:R186H	.	R	+	2	0	TGFBR1	100940151	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	9.810000	0.99221	2.530000	0.85305	0.655000	0.94253	CGT	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053390.3		+	ENST00000374994.4	Missense_Mutation	SNP	9 : 101900330 - 101900330 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	300	6
TGFBR2	7048	broad.mit.edu	37	3	30715708	30715708	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:30715708G>T	ENST00000295754.5	+	5	1748	c.1366G>T	c.(1366-1368)Gaa>Taa	p.E456*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.E481*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	456	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGTGCTCTGGGAAATGACATC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	131	138			NA	NA	3		NA											NA				30715708		2203	4300	6503	SO:0001587	stop_gained				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513	7048	7048			11773	protein-coding gene	gene with protein product		190182	transforming growth factor, beta receptor II (70-80kD)	MFS2	NA	1319842, 15235604	Standard		NM_001024847	NA	Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1366G>T	3.37:g.30715708G>T	ENSP00000295754:p.Glu456*	NA	B4DTV5|Q15580|Q6DKT6|Q99474	37	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	43	9.989757	0.99312	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9662	0.97271	0.0:0.0:1.0:0.0	.	.	.	.	X	456;481;286	.	ENSP00000295754:E456X	E	+	1	0	TGFBR2	30690712	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.701000	0.92244	0.650000	0.86243	GAA	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252994.2		+	ENST00000295754.5	Nonsense_Mutation	SNP	3 : 30715708 - 30715708 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	245	22
TGM6	343641	broad.mit.edu	37	20	2397961	2397961	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:2397961C>T	ENST00000202625.2	+	10	1481	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	TGM6_ENST00000381423.1_Missense_Mutation_p.R474C	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	474					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AATCTGGATCCGCAGGGCTGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	33	35			NA	NA	20		NA											NA				2397961		2203	4300	6503	SO:0001583	missense			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948	343641	343641		Transglutaminases	16255	protein-coding gene	gene with protein product	spinocerebellar ataxia 35	613900	transglutaminase 3-like	TGM3L	NA	11390390, 21106500	Standard	NM_198994	NM_198994	NA	Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1420C>T	20.37:g.2397961C>T	ENSP00000202625:p.Arg474Cys	NA	Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	37	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542366	0.45280	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.80909	-1.27;-1.43	4.54	4.54	0.55810	.	0.768164	0.11873	N	0.521286	D	0.82527	0.5056	L	0.47716	1.5	0.31804	N	0.62801	D;D	0.69078	0.997;0.991	P;B	0.53861	0.736;0.332	T	0.82133	-0.0608	10	0.56958	D	0.05	-9.2741	12.6614	0.56815	0.0:1.0:0.0:0.0	.	474;474	O95932-2;O95932	.;TGM3L_HUMAN	C	474	ENSP00000202625:R474C;ENSP00000370831:R474C	ENSP00000202625:R474C	R	+	1	0	TGM6	2345961	0.187000	0.23238	0.123000	0.21794	0.315000	0.28087	4.094000	0.57721	2.368000	0.80403	0.563000	0.77884	CGC	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077581.2		+	ENST00000202625.2	Missense_Mutation	SNP	20 : 2397961 - 2397961 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	98	7
TMEM143	55260	broad.mit.edu	37	19	48837419	48837419	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:48837419C>G	ENST00000293261.3	-	7	1327	c.1011G>C	c.(1009-1011)gaG>gaC	p.E337D	TMEM143_ENST00000435956.3_Missense_Mutation_p.E302D|TMEM143_ENST00000541566.1_Missense_Mutation_p.E227D|TMEM143_ENST00000377431.2_Missense_Mutation_p.E237D|TMEM143_ENST00000436660.2_Missense_Mutation_p.E272D	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	337						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TGTGCGCCAGCTCCAACGCCT	0.701		NA									OREG0025605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	15	15			NA	NA	19		NA											NA				48837419		2191	4286	6477	SO:0001583	missense			AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558	55260	55260			25603	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_018273	NM_018273	NA	Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.1011G>C	19.37:g.48837419C>G	ENSP00000293261:p.Glu337Asp	957	A8K656|Q6UXY4|Q9NV49	37	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571313	0.28003	.	.	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660;ENST00000541566	T;T;T	0.50548	0.74;0.76;0.75	4.02	1.82	0.25136	.	0.104192	0.39274	N	0.001413	T	0.33294	0.0858	L	0.47716	1.5	0.27686	N	0.946273	B;B;B;B	0.15930	0.015;0.0;0.004;0.001	B;B;B;B	0.17979	0.02;0.002;0.015;0.004	T	0.17745	-1.0359	10	0.18710	T	0.47	-14.1542	5.1988	0.15252	0.0:0.6356:0.1716:0.1929	.	272;237;302;337	B4DPF8;Q96AN5-2;B4DMT0;Q96AN5	.;.;.;TM143_HUMAN	D	337;237;302;272;227	ENSP00000293261:E337D;ENSP00000397038:E302D;ENSP00000444275:E227D	ENSP00000293261:E337D	E	-	3	2	TMEM143	53529231	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	0.755000	0.26405	0.299000	0.22661	0.313000	0.20887	GAG	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465622.1		-	ENST00000293261.3	Missense_Mutation	SNP	19 : 48837419 - 48837419 G PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	94	9
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	GRCh37	CM941329	TP53	M							102	91	94			NA	NA	17		NA											NA				7578263		2203	4300	6503	SO:0001587	stop_gained	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.586C>T	17.37:g.7578263G>A	ENSP00000391127:p.Arg196*	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Nonsense_Mutation	SNP	17 : 7578263 - 7578263 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	211	16
UGT3A1	133688	broad.mit.edu	37	5	35954469	35954469	+	Silent	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr5:35954469C>T	ENST00000274278.3	-	7	1764	c.1407G>A	c.(1405-1407)acG>acA	p.T469T		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	469						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTTGAGGTGCGTCGCTCCCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	77	85			NA	NA	5		NA											NA				35954469		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626	133688	133688		UDP glucuronosyltransferases	26625	protein-coding gene	gene with protein product					NA		Standard	NM_152404	NM_152404	NA	Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1407G>A	5.37:g.35954469C>T		NA	Q8NAW4|Q96DM6	37	CCDS3913.1																																																																																			UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253770.2		-	ENST00000274278.3	Silent	SNP	5 : 35954469 - 35954469 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	175	7
UNC13C	440279	broad.mit.edu	37	15	54916007	54916007	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:54916007G>A	ENST00000260323.11	+	31	6214	c.6214G>A	c.(6214-6216)Gac>Aac	p.D2072N	UNC13C_ENST00000545554.1_Missense_Mutation_p.D2072N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D2070N|UNC13C_ENST00000539562.2_5'UTR	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2072	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGCTATTAATGACCTAAACTG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	65	67			NA	NA	15		NA											NA				54916007		1835	4084	5919	SO:0001583	missense			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766	440279	440279			23149	protein-coding gene	gene with protein product		614568			NA		Standard	NM_173166	NM_001080534	NA	Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.6214G>A	15.37:g.54916007G>A	ENSP00000260323:p.Asp2072Asn	NA	Q0P613|Q8ND48|Q96NP3	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	8.260	0.811040	0.16537	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.75367	-0.93;-0.93;-0.93	5.53	4.55	0.56014	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.344021	0.33419	N	0.004929	T	0.57227	0.2039	N	0.20357	0.565	0.34289	D	0.683087	B	0.06786	0.001	B	0.04013	0.001	T	0.59915	-0.7364	10	0.31617	T	0.26	.	9.1177	0.36769	0.2002:0.0:0.7998:0.0	.	2072	Q8NB66	UN13C_HUMAN	N	2072;2072;2070	ENSP00000260323:D2072N;ENSP00000438156:D2072N;ENSP00000442569:D2070N	ENSP00000260323:D2072N	D	+	1	0	UNC13C	52703299	1.000000	0.71417	0.997000	0.53966	0.333000	0.28666	4.974000	0.63771	1.196000	0.43129	0.563000	0.77884	GAC	UNC13C-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419028.3		+	ENST00000260323.11	Missense_Mutation	SNP	15 : 54916007 - 54916007 A PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	108	11
VPS13B	157680	broad.mit.edu	37	8	100833605	100833605	+	Silent	SNP	A	A	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr8:100833605A>T	ENST00000358544.2	+	50	9264	c.9153A>T	c.(9151-9153)acA>acT	p.T3051T	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.T3026T	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3051					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATAACCTGACATCTCCAAAGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(161;2205 2542 7338 31318)							NA				0													212	200	204			NA	NA	8		NA											NA				100833605		2203	4300	6503	SO:0001819	synonymous_variant			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549	157680	157680			2183	protein-coding gene	gene with protein product		607817	Cohen syndrome 1	CHS1, COH1	NA	7920642, 15498460	Standard	NM_184042	NM_181661	NA	Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9153A>T	8.37:g.100833605A>T		NA	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	37	CCDS6280.1																																																																																			VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277138.1		+	ENST00000358544.2	Silent	SNP	8 : 100833605 - 100833605 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	355	5
WLS	79971	broad.mit.edu	37	1	68615942	68615942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:68615942C>T	ENST00000262348.4	-	6	1154	c.901G>A	c.(901-903)Gac>Aac	p.D301N	WLS_ENST00000491811.1_5'UTR|WLS_ENST00000354777.2_Missense_Mutation_p.D299N|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000540432.1_Missense_Mutation_p.D301N|WLS_ENST00000370976.3_Missense_Mutation_p.D210N	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	301					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TGTCGGATGTCACCAAACAGC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	131	136			NA	NA	1		NA											NA				68615942		2203	4300	6503	SO:0001583	missense			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729	79971	79971			30238	protein-coding gene	gene with protein product	wntless homolog	611514	chromosome 1 open reading frame 139, G protein-coupled receptor 177, wntless homolog (Drosophila)	C1orf139, GPR177	NA	12761501	Standard	NM_024911	NM_024911	NA	Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.901G>A	1.37:g.68615942C>T	ENSP00000262348:p.Asp301Asn	NA	B2RNT2|Q7Z2Z9|Q8NC43	37	CCDS642.1	.	.	.	.	.	.	.	.	.	.	C	34	5.309247	0.95629	.	.	ENSG00000116729	ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.68032	-0.5516	10	0.51188	T	0.08	-33.6655	18.0034	0.89203	0.0:1.0:0.0:0.0	.	301;210;301;299	F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.;.;WLS_HUMAN;.	N	301;299;301;210	ENSP00000446112:D301N;ENSP00000346829:D299N;ENSP00000262348:D301N;ENSP00000360015:D210N	ENSP00000262348:D301N	D	-	1	0	WLS	68388530	1.000000	0.71417	0.953000	0.39169	0.943000	0.58893	7.298000	0.78815	2.248000	0.74166	0.563000	0.77884	GAC	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025368.1		-	ENST00000262348.4	Missense_Mutation	SNP	1 : 68615942 - 68615942 T PAAD-TCGA-IB-A5SO-Tumor-SM-4WPAC	483	52
