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
ADPRHL2	54936	broad.mit.edu	37	1	36557376	36557376	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:36557376C>T	ENST00000373178.4	+	3	496	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	156						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				AGGTGCCATGCGGGTGGCTGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	61	61			NA	NA	1		NA											NA				36557376		2203	4300	6503	SO:0001583	missense			AJ427295	CCDS402.1	1p34.3	2008-02-05			ENSG00000116863	ENSG00000116863	54936	54936			21304	protein-coding gene	gene with protein product		610624			NA	12070318, 16278211	Standard	NM_017825	NM_017825	NA	Approved	ARH3, FLJ20446	uc001bzt.3	Q9NX46	OTTHUMG00000007628	ENST00000373178.4:c.466C>T	1.37:g.36557376C>T	ENSP00000362273:p.Arg156Trp	NA	Q53G94|Q6IAB8|Q9BY47	37	CCDS402.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766089	0.69878	.	.	ENSG00000116863	ENST00000373178;ENST00000540867;ENST00000543954	T	0.59906	0.23	5.35	2.31	0.28768	.	0.000000	0.85682	D	0.000000	D	0.82444	0.5038	H	0.96269	3.795	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.88017	0.2766	10	0.87932	D	0	-16.3839	14.9511	0.71074	0.6175:0.3825:0.0:0.0	.	156	Q9NX46	ARHL2_HUMAN	W	156;76;2	ENSP00000362273:R156W	ENSP00000362273:R156W	R	+	1	2	ADPRHL2	36329963	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.643000	0.61390	0.608000	0.30000	-0.261000	0.10672	CGG	ADPRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000020199.1		+	ENST00000373178.4	Missense_Mutation	SNP	1 : 36557376 - 36557376 T PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	454	5
AGO1	26523	broad.mit.edu	37	1	36354142	36354142	+	Missense_Mutation	SNP	T	T	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:36354142T>A	ENST00000373204.4	+	2	353	c.140T>A	c.(139-141)aTc>aAc	p.I47N	AGO1_ENST00000373206.1_5'UTR	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1	NA											NA						GAGGTGGACATCCCTAAGATC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	99	102			NA	NA	1		NA											NA				36354142		2203	4300	6503	SO:0001583	missense			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847	26523	26523		Argonaute/PIWI family	3262	protein-coding gene	gene with protein product	argonaute 1	606228	eukaryotic translation initiation factor 2C, 1	EIF2C1	NA	10534406, 12906857	Standard		NM_012199	NA	Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.140T>A	1.37:g.36354142T>A	ENSP00000362300:p.Ile47Asn	NA		37	CCDS398.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.951669	0.92660	.	.	ENSG00000092847	ENST00000373204	T	0.09911	2.93	5.6	5.6	0.85130	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	D	0.000000	T	0.35740	0.0942	M	0.85630	2.765	0.80722	D	1	P	0.49090	0.919	P	0.60345	0.873	T	0.20940	-1.0260	10	0.87932	D	0	-11.7092	16.0773	0.80976	0.0:0.0:0.0:1.0	.	47	Q9UL18	AGO1_HUMAN	N	47	ENSP00000362300:I47N	ENSP00000362300:I47N	I	+	2	0	EIF2C1	36126729	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.254000	0.74563	0.482000	0.46254	ATC	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019337.3		+	ENST00000373204.4	Missense_Mutation	SNP	1 : 36354142 - 36354142 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	495	9
ATP13A5	344905	broad.mit.edu	37	3	193039478	193039478	+	Missense_Mutation	SNP	G	G	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:193039478G>T	ENST00000342358.4	-	16	2024	c.1907C>A	c.(1906-1908)tCt>tAt	p.S636Y		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	636					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.S636F(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACCTGTTTCAGATCTGCAGAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)											71	71	71			NA	NA	3		NA											NA				193039478		2203	4300	6503	SO:0001583	missense			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527	344905	344905		ATPases / P-type	31789	protein-coding gene	gene with protein product					NA		Standard	NM_198505	NM_198505	NA	Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1907C>A	3.37:g.193039478G>T	ENSP00000341942:p.Ser636Tyr	NA	Q6UWS4|Q6ZWL0	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	8.022	0.759846	0.15846	.	.	ENSG00000187527	ENST00000342358	T	0.71579	-0.58	5.5	4.62	0.57501	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.676384	0.14815	N	0.296831	T	0.65852	0.2731	L	0.41124	1.26	0.20196	N	0.999929	P	0.37176	0.586	B	0.42495	0.389	T	0.60306	-0.7289	10	0.62326	D	0.03	-1.1021	9.2597	0.37605	0.0772:0.0:0.7782:0.1446	.	636	Q4VNC0	AT135_HUMAN	Y	636	ENSP00000341942:S636Y	ENSP00000341942:S636Y	S	-	2	0	ATP13A5	194522172	0.001000	0.12720	0.470000	0.27216	0.062000	0.15995	1.160000	0.31761	1.476000	0.48215	-0.140000	0.14226	TCT	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343012.1		-	ENST00000342358.4	Missense_Mutation	SNP	3 : 193039478 - 193039478 T PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	363	5
ATP1A3	478	broad.mit.edu	37	19	42490359	42490359	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:42490359G>A	ENST00000545399.1	-	5	572	c.419C>T	c.(418-420)gCg>gTg	p.A140V	ATP1A3_ENST00000543770.1_Missense_Mutation_p.A138V|ATP1A3_ENST00000602133.1_Missense_Mutation_p.A97V|ATP1A3_ENST00000302102.5_Missense_Mutation_p.A127V	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	127					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CACCACGGCCGCCAGCACGAT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	51	53			NA	NA	19		NA											NA				42490359		2203	4300	6503	SO:0001583	missense				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	478	478	3.6.3.9	ATPases / P-type	801	protein-coding gene	gene with protein product	sodium/potassium-transporting ATPase subunit alpha-3, sodium pump subunit alpha-3, sodium-potassium ATPase catalytic subunit alpha-3	182350	dystonia 12	DYT12	NA	17282997	Standard	NM_152296	NM_152296	NA	Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000545399.1:c.419C>T	19.37:g.42490359G>A	ENSP00000444688:p.Ala140Val	NA	Q16732|Q16735|Q969K5	37	CCDS58664.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.603856	0.66445	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770;ENST00000448429	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	3.6	3.6	0.41247	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.067171	0.56097	D	0.000024	D	0.85048	0.5608	N	0.17838	0.53	0.47621	D	0.999477	B;P;B;P	0.39759	0.007;0.638;0.35;0.687	B;B;B;P	0.45610	0.026;0.355;0.177;0.487	T	0.81510	-0.0900	10	0.14656	T	0.56	.	13.5331	0.61633	0.0:0.0:1.0:0.0	.	140;138;127;127	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	V	127;127;140;97;138;140	ENSP00000302397:A127V;ENSP00000411503:A127V;ENSP00000444688:A140V;ENSP00000437577:A138V	ENSP00000302397:A127V	A	-	2	0	ATP1A3	47182199	1.000000	0.71417	0.983000	0.44433	0.838000	0.47535	9.835000	0.99442	1.965000	0.57142	0.491000	0.48974	GCG	ATP1A3-008	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268114.2		-	ENST00000545399.1	Missense_Mutation	SNP	19 : 42490359 - 42490359 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	296	5
BRWD1	54014	broad.mit.edu	37	21	40630429	40630429	+	Silent	SNP	T	T	C			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr21:40630429T>C	ENST00000380800.3	-	18	2153	c.2055A>G	c.(2053-2055)gaA>gaG	p.E685E	BRWD1_ENST00000333229.2_Silent_p.E685E|BRWD1_ENST00000342449.3_Silent_p.E685E			Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	685					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GGGGTGTTTCTTCACCATTTG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(170;988 1986 4794 16843 39731)							NA				0													197	193	195			NA	NA	21		NA											NA				40630429		2203	4300	6503	SO:0001819	synonymous_variant			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658	54014	54014		WD repeat domain containing	12760	protein-coding gene	gene with protein product			chromosome 21 open reading frame 107, WD repeat domain 9	C21orf107, WDR9	NA		Standard	NM_033656	NM_033656	NA	Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000380800.3:c.2055A>G	21.37:g.40630429T>C		NA	C9JK25|O43721|Q5R2V0|Q5R2V1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	37		.	.	.	.	.	.	.	.	.	.	T	4.863	0.160340	0.09287	.	.	ENSG00000185658	ENST00000455867	.	.	.	5.46	1.8	0.24995	.	.	.	.	.	T	0.57140	0.2033	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48031	-0.9070	4	.	.	.	-13.145	8.7115	0.34387	0.0:0.2966:0.0:0.7034	.	.	.	.	G	397	.	.	R	-	1	2	BRWD1	39552299	1.000000	0.71417	0.992000	0.48379	0.658000	0.38924	1.633000	0.37113	0.075000	0.16796	0.533000	0.62120	AGA	BRWD1-016	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339983.1		-	ENST00000380800.3	Silent	SNP	21 : 40630429 - 40630429 C PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	782	13
C15orf54	400360	broad.mit.edu	37	15	39544396	39544396	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:39544396G>A	ENST00000318578.3	+	2	428	c.60G>A	c.(58-60)ccG>ccA	p.P20P	C15orf54_ENST00000561223.1_Silent_p.P20P|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	20								p.P20P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GGGCTGAGCCGCAAAGAATTT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											200	201	200			NA	NA	15		NA											NA				39544396		2200	4297	6497	SO:0001819	synonymous_variant				CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746	400360	400360			33797	protein-coding gene	gene with protein product					NA		Standard	NM_207445	NM_207445	NA	Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.60G>A	15.37:g.39544396G>A		NA	B7ZVZ9	37	CCDS10049.1																																																																																			C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252083.1		+	ENST00000318578.3	Silent	SNP	15 : 39544396 - 39544396 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	1132	7
C19orf57	79173	broad.mit.edu	37	19	14000364	14000364	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:14000364G>A	ENST00000346736.2	-	6	1432	c.1305C>T	c.(1303-1305)tcC>tcT	p.S435S	C19orf57_ENST00000586783.1_Silent_p.S435S|C19orf57_ENST00000454313.1_Silent_p.S435S|C19orf57_ENST00000591586.1_Intron	NM_024323.3	NP_077299.3	Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	435					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ATGCATGACCGGAATCTCCAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	54	53			NA	NA	19		NA											NA				14000364		2203	4300	6503	SO:0001819	synonymous_variant			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016	79173	79173			28153	protein-coding gene	gene with protein product					NA	8228263	Standard	NM_024323	NM_024323	NA	Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000346736.2:c.1305C>T	19.37:g.14000364G>A		NA	Q13411|Q8N825|Q96D63|Q9BU49	37	CCDS12299.1																																																																																			C19orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457948.1		-	ENST00000346736.2	Silent	SNP	19 : 14000364 - 14000364 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	406	5
C9orf131	138724	broad.mit.edu	37	9	35044336	35044336	+	Silent	SNP	G	G	A	rs115027328	by1000genomes	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:35044336G>A	ENST00000312292.5	+	2	1757	c.1710G>A	c.(1708-1710)ccG>ccA	p.P570P	C9orf131_ENST00000421362.2_Silent_p.P522P|C9orf131_ENST00000354479.5_Silent_p.P497P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	570										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCTTGCACCGGAGCTGCTCA	0.527		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	2e-04	SNP								NA				0													125	128	127			NA	NA	9		NA											NA				35044336		2203	4300	6503	SO:0001819	synonymous_variant			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038	138724	138724			31418	protein-coding gene	gene with protein product					NA		Standard	NM_203299	NM_001287391	NA	Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1710G>A	9.37:g.35044336G>A		NA	Q86XC6|Q9UF74	37	CCDS6572.2																																																																																			C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052283.5		+	ENST00000312292.5	Silent	SNP	9 : 35044336 - 35044336 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	833	6
CA12	771	broad.mit.edu	37	15	63632565	63632565	+	Silent	SNP	C	C	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:63632565C>A	ENST00000178638.3	-	7	1109	c.669G>T	c.(667-669)ggG>ggT	p.G223G	CA12_ENST00000422263.2_Silent_p.G163G|CA12_ENST00000344366.3_Silent_p.G223G	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	223					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	TGGTCAGGGACCCCCGGTAGC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	73	75			NA	NA	15		NA											NA				63632565		2203	4300	6503	SO:0001819	synonymous_variant			AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410	771	771		Carbonic anhydrases	1371	protein-coding gene	gene with protein product		603263			NA	9636197	Standard	NM_001218	NM_001218	NA	Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.669G>T	15.37:g.63632565C>A		NA	Q53YE5|Q9BWG2	37	CCDS10185.1																																																																																			CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256370.1		-	ENST00000178638.3	Silent	SNP	15 : 63632565 - 63632565 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	344	7
CALCOCO2	10241	broad.mit.edu	37	17	46926637	46926637	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:46926637G>A	ENST00000448105.2	+	6	568	c.513G>A	c.(511-513)caG>caA	p.Q171Q	CALCOCO2_ENST00000508679.1_Silent_p.Q75Q|CALCOCO2_ENST00000258947.3_Silent_p.Q147Q|CALCOCO2_ENST00000509507.1_Silent_p.Q168Q|CALCOCO2_ENST00000416445.2_Intron			Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	147					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						AGATTGAGCAGCACAACAAGG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	128	128			NA	NA	17		NA											NA				46926637		2203	4300	6503	SO:0001819	synonymous_variant			BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436	10241	10241			29912	protein-coding gene	gene with protein product		604587			NA	7540613	Standard	NM_005831	NM_001261390	NA	Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000448105.2:c.513G>A	17.37:g.46926637G>A		NA	B2RBT0|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	37	CCDS58559.1																																																																																			CALCOCO2-008	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360873.1		+	ENST00000448105.2	Silent	SNP	17 : 46926637 - 46926637 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	565	7
CD6	923	broad.mit.edu	37	11	60778547	60778547	+	Silent	SNP	C	C	A	rs145393446		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:60778547C>A	ENST00000313421.7	+	6	1276	c.1090C>A	c.(1090-1092)Cgg>Agg	p.R364R	CD6_ENST00000545105.1_3'UTR|CD6_ENST00000346437.4_Silent_p.R364R|CD6_ENST00000344028.5_Silent_p.R364R|CD6_ENST00000352009.5_Silent_p.R364R|CD6_ENST00000452451.2_Silent_p.R364R	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	364					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GACAGCTTCCCGGAGTTTGCA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(169;904 2017 4767 38890 42505)							NA				0													189	146	161			NA	NA	11		NA											NA				60778547		2203	4299	6502	SO:0001819	synonymous_variant				CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725	923	923		CD molecules	1691	protein-coding gene	gene with protein product		186720	CD6 antigen		NA	9013954	Standard	NM_006725	NM_006725	NA	Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1090C>A	11.37:g.60778547C>A		NA	Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	37	CCDS7999.1																																																																																			CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396449.1		+	ENST00000313421.7	Silent	SNP	11 : 60778547 - 60778547 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	317	6
CDCP1	64866	broad.mit.edu	37	3	45159953	45159953	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:45159953G>A	ENST00000296129.1	-	2	377	c.243C>T	c.(241-243)agC>agT	p.S81S	CDCP1_ENST00000425231.2_Silent_p.S81S|CDCP1_ENST00000490471.1_5'UTR	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	81						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GACTCTGGCAGCTAAAGGTAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	117	116			NA	NA	3		NA											NA				45159953		2203	4300	6503	SO:0001819	synonymous_variant			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814	64866	64866		CD molecules	24357	protein-coding gene	gene with protein product		611735			NA	11466621	Standard	NM_022842	NM_022842	NA	Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.243C>T	3.37:g.45159953G>A		NA	Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	37	CCDS2727.1																																																																																			CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256748.3		-	ENST00000296129.1	Silent	SNP	3 : 45159953 - 45159953 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	433	5
COL6A3	1293	broad.mit.edu	37	2	238305387	238305387	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:238305387G>A	ENST00000295550.4	-	2	526	c.74C>T	c.(73-75)gCc>gTc	p.A25V	COL6A3_ENST00000472056.1_Missense_Mutation_p.A25V|COL6A3_ENST00000392004.3_Missense_Mutation_p.A25V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A25V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A25V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A25V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A25V|COL6A3_ENST00000392003.2_Missense_Mutation_p.A25V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	25					axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCTGCTGGGCATGAGTTGT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	124	123			NA	NA	2		NA											NA				238305387		2203	4300	6503	SO:0001583	missense			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359	1293	1293		Collagens	2213	protein-coding gene	gene with protein product		120250			NA	1339440, 11992252	Standard	NM_004369	NM_004369	NA	Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.74C>T	2.37:g.238305387G>A	ENSP00000295550:p.Ala25Val	NA	Q16501|Q53QF4|Q53QF6	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339245	0.24339	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	T;T;T;D;T;T;T;T;T	0.88509	-1.09;-1.09;-1.08;-2.39;-1.08;-1.09;-1.08;-0.04;-1.09	5.46	3.62	0.41486	.	0.124395	0.35805	N	0.002975	D	0.92446	0.7602	M	0.61703	1.905	0.25430	N	0.988196	D;B;B;D;D;P	0.71674	0.977;0.006;0.013;0.971;0.998;0.943	P;B;B;P;D;P	0.66602	0.597;0.004;0.017;0.659;0.945;0.5	D	0.86732	0.1949	10	0.56958	D	0.05	.	14.2564	0.66055	0.0:0.3088:0.6912:0.0	.	25;25;25;25;25;25	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	V	25	ENSP00000295550:A25V;ENSP00000315609:A25V;ENSP00000315873:A25V;ENSP00000418285:A25V;ENSP00000386844:A25V;ENSP00000295546:A25V;ENSP00000375861:A25V;ENSP00000375860:A25V;ENSP00000389539:A25V	ENSP00000295550:A25V	A	-	2	0	COL6A3	237970126	0.997000	0.39634	0.295000	0.24960	0.037000	0.13140	2.286000	0.43496	0.638000	0.30545	0.650000	0.86243	GCC	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315790.2		-	ENST00000295550.4	Missense_Mutation	SNP	2 : 238305387 - 238305387 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	452	5
CX3CL1	6376	broad.mit.edu	37	16	57415974	57415974	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr16:57415974C>T	ENST00000563383.1	+	3	334	c.242C>T	c.(241-243)gCc>gTc	p.A81V	CX3CL1_ENST00000006053.6_Missense_Mutation_p.A75V|CX3CL1_ENST00000565912.1_Missense_Mutation_p.A37V|CX3CL1_ENST00000564948.1_Missense_Mutation_p.P35S			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	75	Chemokine.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CTGTTCTGTGCCGACCCGAAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	65	65			NA	NA	16		NA											NA				57415974		2198	4300	6498	SO:0001583	missense			U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210	6376	6376		Endogenous ligands	10647	protein-coding gene	gene with protein product		601880	small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)	SCYD1	NA	9177350, 9024663	Standard	NM_002996	NM_002996	NA	Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000563383.1:c.242C>T	16.37:g.57415974C>T	ENSP00000456830:p.Ala81Val	NA	O00672	37		.	.	.	.	.	.	.	.	.	.	C	17.45	3.392360	0.62066	.	.	ENSG00000006210	ENST00000006053	T	0.05580	3.42	5.45	5.45	0.79879	Chemokine interleukin-8-like domain (3);	0.000000	0.64402	D	0.000012	T	0.27169	0.0666	M	0.81682	2.555	0.41670	D	0.989234	D	0.89917	1.0	D	0.91635	0.999	T	0.00992	-1.1488	10	0.87932	D	0	-33.9119	14.8416	0.70230	0.0:1.0:0.0:0.0	.	75	P78423	X3CL1_HUMAN	V	75	ENSP00000006053:A75V	ENSP00000006053:A75V	A	+	2	0	CX3CL1	55973475	0.995000	0.38212	0.953000	0.39169	0.012000	0.07955	3.478000	0.53158	2.560000	0.86352	0.555000	0.69702	GCC	CX3CL1-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000430432.1		+	ENST00000563383.1	Missense_Mutation	SNP	16 : 57415974 - 57415974 T PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	402	5
DMD	1756	broad.mit.edu	37	X	31222081	31222081	+	Silent	SNP	T	T	C	rs12690372	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:31222081T>C	ENST00000357033.4	-	67	10010	c.9804A>G	c.(9802-9804)caA>caG	p.Q3268Q	DMD_ENST00000474231.1_Silent_p.Q808Q|DMD_ENST00000541735.1_Silent_p.Q808Q|DMD_ENST00000378677.2_Silent_p.Q3264Q|DMD_ENST00000343523.2_Silent_p.Q808Q|DMD_ENST00000378702.4_Silent_p.Q200Q|DMD_ENST00000378680.2_Silent_p.Q200Q|DMD_ENST00000378723.3_Silent_p.Q200Q|DMD_ENST00000378707.3_Silent_p.Q808Q|DMD_ENST00000361471.4_Silent_p.Q200Q|DMD_ENST00000359836.1_Silent_p.Q808Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3268	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AACTTACAAATTGGAAGCAGC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	,,,,,,,,,,,,,,,,,	2,3831		0,2,1629,571	58	51	53		9780,9804,9435,9792,9435,5781,5772,2424,1617,600,600,600,600,600,2424,2424,2424,2424	-7	0.6	X	dbSNP_120	53	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3,NM_004011.3,NM_004012.3,NM_004013.2,NM_004014.2,NM_004015.2,NM_004016.2,NM_004017.2,NM_004018.2,NM_004019.2,NM_004020.3,NM_004021.2,NM_004022.2,NM_004023.2	,,,,,,,,,,,,,,,,,	0,2,4057,2443	CC,CT,TT,T	NA	0.0,0.0522,0.0189	,,,,,,,,,,,,,,,,,	3260/3678,3268/3686,3145/3563,3264/3682,3145/3563,1927/2345,1924/2342,808/1226,539/957,200/618,200/636,200/605,200/623,200/341,808/1116,808/1244,808/1231,808/1134	31222081	2,10559	2202	4300	6502	SO:0001819	synonymous_variant			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947	1756	1756			2928	protein-coding gene	gene with protein product	muscular dystrophy, Duchenne and Becker types	300377	dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, mental retardation, X-linked 85	MRX85	NA	3282674, 3607877, 23900271	Standard	NM_004006	NM_004019	NA	Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9804A>G	X.37:g.31222081T>C		NA	Q02295|Q14169|Q14170|Q5JYU0|Q7KZ48|Q9UCW3|Q9UCW4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	9.064	0.995258	0.19043	5.22E-4	0.0	ENSG00000198947	ENST00000465285	.	.	.	5.11	-6.97	0.01616	.	.	.	.	.	T	0.62221	0.2410	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66196	-0.5984	4	.	.	.	.	15.5819	0.76448	0.1098:0.7325:0.0:0.1577	rs12690372;rs12690372	.	.	.	V	997	.	.	I	-	1	0	DMD	31132002	0.975000	0.34042	0.629000	0.29254	0.985000	0.73830	0.181000	0.16880	-2.089000	0.00860	-0.323000	0.08544	ATT	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056182.2		-	ENST00000357033.4	Silent	SNP	X : 31222081 - 31222081 C PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	210	6
DSG2	1829	broad.mit.edu	37	18	29122723	29122723	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr18:29122723G>A	ENST00000261590.8	+	14	2451	c.2242G>A	c.(2242-2244)Gca>Aca	p.A748T	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	748					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CACGAAGACCGCAAGGGCCAC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	94	92			NA	NA	18		NA											NA				29122723		2045	4203	6248	SO:0001583	missense			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604	1829	1829		Cadherins / Major cadherins	3049	protein-coding gene	gene with protein product		125671			NA	1612610	Standard	NM_001943	NM_001943	NA	Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2242G>A	18.37:g.29122723G>A	ENSP00000261590:p.Ala748Thr	NA	Q4KKU6	37	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	g	4.453	0.083827	0.08583	.	.	ENSG00000046604	ENST00000261590	T	0.58506	0.33	5.97	-2.61	0.06171	.	1.161370	0.06133	N	0.671107	T	0.20740	0.0499	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24119	-1.0169	10	0.02654	T	1	.	2.1079	0.03695	0.1819:0.1398:0.4044:0.274	.	748	Q14126	DSG2_HUMAN	T	748	ENSP00000261590:A748T	ENSP00000261590:A748T	A	+	1	0	DSG2	27376721	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.708000	0.05035	-0.360000	0.08138	-0.285000	0.09966	GCA	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447506.1		+	ENST00000261590.8	Missense_Mutation	SNP	18 : 29122723 - 29122723 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	569	6
EEF1A2	1917	broad.mit.edu	37	20	62122019	62122019	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr20:62122019G>A	ENST00000298049.7	-	5	912	c.842C>T	c.(841-843)gCg>gTg	p.A281V	EEF1A2_ENST00000217182.3_Missense_Mutation_p.A281V			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	281						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GTTCACTGGCGCAAAGGTCAC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	56	58			NA	NA	20		NA											NA				62122019		2197	4287	6484	SO:0001583	missense			AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210	1917	1917			3192	protein-coding gene	gene with protein product		602959	statin-like, statin	STNL, STN	NA	8354261, 8812466	Standard	NM_001958	NM_001958	NA	Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.842C>T	20.37:g.62122019G>A	ENSP00000298049:p.Ala281Val	NA	B5BUF3|E1P5J1|P54266|Q0VGC7	37	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392399	0.62066	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.62364	0.03;0.03	3.82	3.82	0.43975	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.060894	0.64402	D	0.000005	T	0.80919	0.4716	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;0.989	D;P	0.71414	0.973;0.824	D	0.85861	0.1410	10	0.87932	D	0	-14.6002	16.0768	0.80974	0.0:0.0:1.0:0.0	.	257;281	Q59GP5;Q05639	.;EF1A2_HUMAN	V	281	ENSP00000298049:A281V;ENSP00000217182:A281V	ENSP00000217182:A281V	A	-	2	0	EEF1A2	61592463	1.000000	0.71417	0.393000	0.26258	0.050000	0.14768	9.616000	0.98359	1.847000	0.53656	0.556000	0.70494	GCG	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080495.1		-	ENST00000298049.7	Missense_Mutation	SNP	20 : 62122019 - 62122019 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	419	6
F5	2153	broad.mit.edu	37	1	169510405	169510405	+	Missense_Mutation	SNP	C	C	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:169510405C>A	ENST00000367796.3	-	13	4139	c.3938G>T	c.(3937-3939)aGt>aTt	p.S1313I	F5_ENST00000367797.3_Missense_Mutation_p.S1308I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1308	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTTTGTCTGACTGAGTTCTGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													272	296	288			NA	NA	1		NA											NA				169510405		2203	4300	6503	SO:0001583	missense			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734	2153	2153			3542	protein-coding gene	gene with protein product		612309			NA		Standard	NM_000130	NM_000130	NA	Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367796.3:c.3938G>T	1.37:g.169510405C>A	ENSP00000356770:p.Ser1313Ile	NA	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	37		.	.	.	.	.	.	.	.	.	.	C	12.19	1.864337	0.32977	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.35789	1.29;1.29	3.21	-2.1	0.07210	.	1.723450	0.02512	N	0.091650	T	0.13372	0.0324	L	0.55990	1.75	0.22199	N	0.999294	P	0.45283	0.855	B	0.38327	0.271	T	0.14008	-1.0488	9	0.40728	T	0.16	.	5.0898	0.14702	0.0:0.4556:0.315:0.2294	.	1308	P12259	FA5_HUMAN	I	1308;1313	ENSP00000356771:S1308I;ENSP00000356770:S1313I	ENSP00000356770:S1313I	S	-	2	0	F5	167777029	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.937000	0.00685	-0.282000	0.09128	0.542000	0.68232	AGT	F5-002	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000083713.1		-	ENST00000367796.3	Missense_Mutation	SNP	1 : 169510405 - 169510405 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	1722	8
FAM111B	374393	broad.mit.edu	37	11	58892674	58892674	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:58892674G>A	ENST00000343597.3	+	4	1295	c.1104G>A	c.(1102-1104)ccG>ccA	p.P368P	FAM111B_ENST00000529618.1_Silent_p.P338P|FAM111B_ENST00000411426.1_Silent_p.P338P	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	368							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GACGGAGGCCGCATCTGGGTA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,,	1,4401	2.1+/-5.4	0,1,2200	68	75	73		1014,1014,1104	-0.8	0	11		73	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	FAM111B	NM_001142703.1,NM_001142704.1,NM_198947.3	,,	0,1,6494	AA,AG,GG	NA	0.0,0.0227,0.0077	,,	338/705,338/705,368/735	58892674	1,12989	2201	4294	6495	SO:0001819	synonymous_variant			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057	374393	374393			24200	protein-coding gene	gene with protein product		615584			NA	24268661	Standard	NM_198947	NM_198947	NA	Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1104G>A	11.37:g.58892674G>A		NA	B4E2G2|Q6P661	37	CCDS7972.1																																																																																			FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393974.1		+	ENST00000343597.3	Silent	SNP	11 : 58892674 - 58892674 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	584	5
FH	2271	broad.mit.edu	37	1	241663871	241663871	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:241663871G>T	ENST00000366560.3	-	9	1294	c.1256C>A	c.(1255-1257)tCa>tAa	p.S419*		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	419					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CAGCCTGGCTGAGTGTAACAC	0.438		NA	Mis, N, F			lieomyomatosis, renal			Hereditary Leiomyomatosis and Renal Cell Cancer					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(148;1573 2486 7381 46575)	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	fumarate hydratase		E, M	0													81	78	79			NA	NA	1		NA											NA				241663871		2203	4300	6503	SO:0001587	stop_gained	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	2271	2271	4.2.1.2		3700	protein-coding gene	gene with protein product		136850			NA		Standard	NM_000143	NM_000143	NA	Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1256C>A	1.37:g.241663871G>T	ENSP00000355518:p.Ser419*	NA		37	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	G	38	6.957369	0.97964	.	.	ENSG00000091483	ENST00000366560	.	.	.	5.71	5.71	0.89125	.	0.129744	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.2891	17.3485	0.87316	0.0:0.0:1.0:0.0	.	.	.	.	X	419	.	ENSP00000355518:S419X	S	-	2	0	FH	239730494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.537000	0.82033	2.697000	0.92050	0.655000	0.94253	TCA	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095490.1		-	ENST00000366560.3	Nonsense_Mutation	SNP	1 : 241663871 - 241663871 T PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	452	6
FIGN	55137	broad.mit.edu	37	2	164467288	164467288	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:164467288G>A	ENST00000333129.3	-	3	1368	c.1054C>T	c.(1054-1056)Ccc>Tcc	p.P352S	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	352						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CTGTTGTCGGGCATTCTGTAC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	125	127			NA	NA	2		NA											NA				164467288		1937	4133	6070	SO:0001583	missense			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263	55137	55137		ATPases / AAA-type	13285	protein-coding gene	gene with protein product		605295			NA	11017077	Standard	NM_018086	XM_005246661	NA	Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1054C>T	2.37:g.164467288G>A	ENSP00000333836:p.Pro352Ser	NA	B3KWM0|Q9H6M5|Q9NVZ9	37	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	3.349	-0.132926	0.06711	.	.	ENSG00000182263	ENST00000333129	D	0.91843	-2.92	5.94	4.15	0.48705	.	0.456711	0.22595	N	0.058032	D	0.85375	0.5682	L	0.29908	0.895	0.54753	D	0.999989	B	0.17465	0.022	B	0.19666	0.026	T	0.76575	-0.2909	10	0.10636	T	0.68	-4.4398	12.098	0.53765	0.065:0.1212:0.8138:0.0	.	352	Q5HY92	FIGN_HUMAN	S	352	ENSP00000333836:P352S	ENSP00000333836:P352S	P	-	1	0	FIGN	164175534	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.220000	0.51207	0.852000	0.35287	0.563000	0.77884	CCC	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157220.2		-	ENST00000333129.3	Missense_Mutation	SNP	2 : 164467288 - 164467288 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	527	6
GLCCI1	113263	broad.mit.edu	37	7	8126004	8126004	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:8126004G>A	ENST00000223145.5	+	8	2037	c.1480G>A	c.(1480-1482)Gtt>Att	p.V494I		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	494										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AACTCTGACCGTTGAGCAGCT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/VAL	0,4406		0,0,2203	191	208	203		1480	3.5	0.6	7		203	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLCCI1	NM_138426.2	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	494/548	8126004	1,13005	2203	4300	6503	SO:0001583	missense			BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415	113263	113263			18713	protein-coding gene	gene with protein product		614283			NA		Standard	NM_138426	NM_138426	NA	Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1480G>A	7.37:g.8126004G>A	ENSP00000223145:p.Val494Ile	NA	A4D103|Q96FD0	37	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155287	0.38021	0.0	1.16E-4	ENSG00000106415	ENST00000223145	.	.	.	5.32	3.52	0.40303	.	0.448294	0.24215	N	0.040481	T	0.39886	0.1095	N	0.22421	0.69	0.42198	D	0.991752	B	0.27971	0.196	B	0.14578	0.011	T	0.22730	-1.0208	9	0.35671	T	0.21	-30.1131	11.7827	0.52023	0.1412:0.0:0.8588:0.0	.	494	Q86VQ1	GLCI1_HUMAN	I	494	.	ENSP00000223145:V494I	V	+	1	0	GLCCI1	8092529	1.000000	0.71417	0.644000	0.29465	0.179000	0.23085	2.871000	0.48459	0.941000	0.37499	0.655000	0.94253	GTT	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324672.1		+	ENST00000223145.5	Missense_Mutation	SNP	7 : 8126004 - 8126004 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	1431	8
GNA15	2769	broad.mit.edu	37	19	3151725	3151725	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:3151725G>A	ENST00000262958.3	+	4	764	c.506G>A	c.(505-507)cGc>cAc	p.R169H	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	169					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CACCTGGAGCGCATCACCGAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	93	98			NA	NA	19		NA											NA				3151725		2203	4300	6503	SO:0001583	missense				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558	2769	2769			4383	protein-coding gene	gene with protein product		139314			NA	1302014	Standard	NM_002068	NM_002068	NA	Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.506G>A	19.37:g.3151725G>A	ENSP00000262958:p.Arg169His	NA	O75247|Q53XK2	37	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027420	0.93518	.	.	ENSG00000060558	ENST00000262958	D	0.91996	-2.95	4.59	4.59	0.56863	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	U	0.000000	D	0.96935	0.8999	M	0.94101	3.495	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	D	0.98010	1.0365	10	0.87932	D	0	.	14.9063	0.70721	0.0:0.0:1.0:0.0	.	169	P30679	GNA15_HUMAN	H	169	ENSP00000262958:R169H	ENSP00000262958:R169H	R	+	2	0	GNA15	3102725	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	6.643000	0.74334	2.093000	0.63338	0.546000	0.68486	CGC	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452320.2		+	ENST00000262958.3	Missense_Mutation	SNP	19 : 3151725 - 3151725 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	597	5
GNAT1	2779	broad.mit.edu	37	3	50231284	50231284	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:50231284C>T	ENST00000433068.1	+	5	604	c.548C>T	c.(547-549)aCg>aTg	p.T183M	GNAT1_ENST00000481246.1_3'UTR|GNAT1_ENST00000232461.3_Missense_Mutation_p.T183M	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	183					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ATCATCGAGACGCAGTTCTCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR,MET/THR	0,4406		0,0,2203	81	73	76		548,548	5.7	1	3		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GNAT1	NM_000172.3,NM_144499.2	81,81	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	183/351,183/351	50231284	1,13005	2203	4300	6503	SO:0001583	missense				CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349	2779	2779			4393	protein-coding gene	gene with protein product		139330			NA		Standard	NM_000172	NM_000172	NA	Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.548C>T	3.37:g.50231284C>T	ENSP00000387555:p.Thr183Met	NA	Q4VBN2	37	CCDS2812.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407214	0.83230	0.0	1.16E-4	ENSG00000114349	ENST00000232461;ENST00000433068	D;D	0.89196	-2.48;-2.48	5.7	5.7	0.88788	.	0.045321	0.85682	D	0.000000	D	0.94945	0.8365	M	0.83118	2.625	0.47374	D	0.999403	D	0.89917	1.0	D	0.77004	0.989	D	0.95088	0.8219	10	0.72032	D	0.01	.	18.6092	0.91277	0.0:1.0:0.0:0.0	.	183	P11488	GNAT1_HUMAN	M	183	ENSP00000232461:T183M;ENSP00000387555:T183M	ENSP00000232461:T183M	T	+	2	0	GNAT1	50206288	1.000000	0.71417	0.981000	0.43875	0.984000	0.73092	4.464000	0.60134	2.711000	0.92665	0.561000	0.74099	ACG	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345957.1		+	ENST00000433068.1	Missense_Mutation	SNP	3 : 50231284 - 50231284 T PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	366	7
GRIK2	2898	broad.mit.edu	37	6	102134137	102134137	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr6:102134137C>T	ENST00000369138.1	+	6	1350	c.860C>T	c.(859-861)aCc>aTc	p.T287I	GRIK2_ENST00000421544.1_Missense_Mutation_p.T287I|GRIK2_ENST00000369137.3_Missense_Mutation_p.T287I|GRIK2_ENST00000358361.3_Missense_Mutation_p.T287I|GRIK2_ENST00000318991.6_Missense_Mutation_p.T287I|GRIK2_ENST00000369134.4_Missense_Mutation_p.T238I|GRIK2_ENST00000413795.1_Missense_Mutation_p.T287I	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	287					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)	ACAGAAAATACCCAAGTCTCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	94	94			NA	NA	6		NA											NA				102134137		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.860C>T	6.37:g.102134137C>T	ENSP00000358134:p.Thr287Ile	NA	A6NMY9|B5MCV0|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	37	CCDS55045.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092200	0.36952	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.84	4.03	0.46877	Extracellular ligand-binding receptor (1);	0.157085	0.53938	D	0.000043	T	0.47857	0.1468	N	0.04508	-0.205	0.26912	N	0.966869	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.49082	-0.8976	10	0.66056	D	0.02	.	10.6595	0.45694	0.0:0.6482:0.2676:0.0843	.	287;287;287	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	I	287;287;287;287;287;287;287;238;249	ENSP00000397026:T287I;ENSP00000405596:T287I;ENSP00000358134:T287I;ENSP00000351128:T287I;ENSP00000358133:T287I;ENSP00000313276:T287I;ENSP00000358130:T238I	ENSP00000313276:T287I	T	+	2	0	GRIK2	102240830	0.997000	0.39634	0.911000	0.35937	0.907000	0.53573	2.346000	0.44027	1.471000	0.48121	0.655000	0.94253	ACC	GRIK2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043720.1		+	ENST00000369138.1	Missense_Mutation	SNP	6 : 102134137 - 102134137 T PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	325	6
GRIN2A	2903	broad.mit.edu	37	16	10274159	10274159	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr16:10274159G>A	ENST00000396573.2	-	3	419	c.110C>T	c.(109-111)gCg>gTg	p.A37V	GRIN2A_ENST00000404927.2_Missense_Mutation_p.A37V|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A37V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A37V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A37V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	37					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CAGCATCACCGCAATATTTAG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	38	36			NA	NA	16		NA											NA				10274159		2196	4296	6492	SO:0001583	missense				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454	NA	2903		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4585	protein-coding gene	gene with protein product		138253		NMDAR2A	NA	9480759	Standard		XM_005255267	NA	Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.110C>T	16.37:g.10274159G>A	ENSP00000379818:p.Ala37Val	NA	O00669	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	37	6.015957	0.97205	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	4.54	4.54	0.55810	.	0.140584	0.45361	N	0.000378	D	0.91439	0.7298	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.85130	0.997;0.87;0.983	D	0.91038	0.4869	9	.	.	.	.	16.2901	0.82747	0.0:0.0:1.0:0.0	.	37;37;37	Q547U9;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	V	37	ENSP00000379818:A37V;ENSP00000385872:A37V;ENSP00000332549:A37V;ENSP00000379820:A37V	.	A	-	2	0	GRIN2A	10181660	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.557000	0.98129	2.088000	0.63022	0.561000	0.74099	GCG	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251930.3		-	ENST00000396573.2	Missense_Mutation	SNP	16 : 10274159 - 10274159 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	409	5
HEPHL1	341208	broad.mit.edu	37	11	93800764	93800764	+	Missense_Mutation	SNP	A	A	G			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:93800764A>G	ENST00000315765.9	+	5	919	c.911A>G	c.(910-912)cAt>cGt	p.H304R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	304	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATAGACATCCATTCTATCTAT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	178	178			NA	NA	11		NA											NA				93800764		1953	4138	6091	SO:0001583	missense			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333	341208	341208			30477	protein-coding gene	gene with protein product					NA		Standard	XM_291947	NM_001098672	NA	Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.911A>G	11.37:g.93800764A>G	ENSP00000313699:p.His304Arg	NA	Q3C1W7	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.413281	0.83449	.	.	ENSG00000181333	ENST00000315765	D	0.99824	-6.96	5.36	5.36	0.76844	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99866	0.9937	M	0.93978	3.48	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96432	0.9320	10	0.87932	D	0	.	15.6458	0.77049	1.0:0.0:0.0:0.0	.	304	Q6MZM0	HPHL1_HUMAN	R	304	ENSP00000313699:H304R	ENSP00000313699:H304R	H	+	2	0	HEPHL1	93440412	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.991000	0.93514	2.158000	0.67659	0.459000	0.35465	CAT	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396103.2		+	ENST00000315765.9	Missense_Mutation	SNP	11 : 93800764 - 93800764 G PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	791	12
IRS1	3667	broad.mit.edu	37	2	227662683	227662683	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:227662683G>A	ENST00000305123.5	-	1	1792	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	NA	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTCATGGCCCGCATGGCCTCC	0.637		NA									OREG0015248	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													74	80	78			NA	NA	2		NA											NA				227662683		2203	4300	6503	SO:0001583	missense				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047	3667	3667		Pleckstrin homology (PH) domain containing	6125	protein-coding gene	gene with protein product		147545			NA	1648180	Standard	NM_005544	NM_005544	NA	Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.772C>T	2.37:g.227662683G>A	ENSP00000304895:p.Arg258Trp	2321		37	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310295	0.60414	.	.	ENSG00000169047	ENST00000305123	T	0.47177	0.85	5.79	2.9	0.33743	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (4);	0.117936	0.39146	N	0.001442	T	0.55800	0.1943	L	0.34521	1.04	0.47214	D	0.999354	D	0.89917	1.0	D	0.66716	0.946	T	0.57785	-0.7751	10	0.87932	D	0	-30.8633	14.6021	0.68447	0.0:0.0:0.4974:0.5026	.	258	P35568	IRS1_HUMAN	W	258	ENSP00000304895:R258W	ENSP00000304895:R258W	R	-	1	2	IRS1	227370927	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.388000	0.44398	0.306000	0.22856	0.561000	0.74099	CGG	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256886.3		-	ENST00000305123.5	Missense_Mutation	SNP	2 : 227662683 - 227662683 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	442	5
KCNH1	3756	broad.mit.edu	37	1	211263994	211263994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:211263994G>A	ENST00000367007.4	-	4	518	c.349C>T	c.(349-351)Cga>Tga	p.R117*	KCNH1_ENST00000271751.4_Nonsense_Mutation_p.R117*	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	117	PAC.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGTTCGTTTCGAATTGGAGCA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	94	95			NA	NA	1		NA											NA				211263994		2203	4300	6503	SO:0001587	stop_gained			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473	3756	3756		Potassium channels, Voltage-gated ion channels / Potassium channels	6250	protein-coding gene	gene with protein product		603305			NA	9738473, 16382104	Standard	NM_002238	NM_172362	NA	Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000367007.4:c.349C>T	1.37:g.211263994G>A	ENSP00000355974:p.Arg117*	NA	B1AQ26|O76035	37	CCDS31015.1	.	.	.	.	.	.	.	.	.	.	G	38	7.239776	0.98157	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	.	.	.	5.22	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	11.8706	0.52519	0.0:0.0:0.6718:0.3282	.	.	.	.	X	117	.	ENSP00000271751:R117X	R	-	1	2	KCNH1	209330617	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.394000	0.44450	1.141000	0.42275	0.655000	0.94253	CGA	KCNH1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088568.1		-	ENST00000367007.4	Nonsense_Mutation	SNP	1 : 211263994 - 211263994 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	303	8
KIAA1045	23349	broad.mit.edu	37	9	34972446	34972446	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:34972446G>A	ENST00000242315.3	+	3	564	c.482G>A	c.(481-483)cGc>cAc	p.R161H	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R161H	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	161							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			TGCCTGCGCCGCATGGGCTAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	116	113			NA	NA	9		NA											NA				34972446		2060	4209	6269	SO:0001583	missense			AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733	23349	23349			29180	protein-coding gene	gene with protein product					NA	10470851	Standard	XM_048592	NM_015297	NA	Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.482G>A	9.37:g.34972446G>A	ENSP00000242315:p.Arg161His	NA	B7Z253|Q58FE9|Q5T662	37	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	26.1	4.706470	0.89018	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.73	4.84	0.62591	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, FYVE/PHD-type (1);	0.131353	0.53938	D	0.000049	T	0.51822	0.1697	M	0.62723	1.935	0.43304	D	0.995305	P	0.37141	0.584	B	0.29598	0.104	T	0.56195	-0.8019	9	0.51188	T	0.08	-11.7038	13.7849	0.63104	0.0733:0.0:0.9267:0.0	.	161	Q9UPV7	K1045_HUMAN	H	161	.	ENSP00000242315:R161H	R	+	2	0	KIAA1045	34962446	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.616000	0.67709	1.429000	0.47314	0.655000	0.94253	CGC	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052256.2		+	ENST00000242315.3	Missense_Mutation	SNP	9 : 34972446 - 34972446 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	574	6
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>T	12.37:g.25398284C>A	ENSP00000308495:p.Gly12Val	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	0	0
KRTAP17-1	83902	broad.mit.edu	37	17	39471774	39471774	+	Silent	SNP	G	G	A	rs140274808	by1000genomes	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:39471774G>A	ENST00000334202.3	-	1	173	c.129C>T	c.(127-129)tgC>tgT	p.C43C		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	43						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			cagagcccccgcagccagagc	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	13	12			NA	NA	17		NA											NA				39471774		2166	4238	6404	SO:0001819	synonymous_variant			AJ406952	CCDS11387.1	17q21.2	2013-06-20			ENSG00000186860	ENSG00000186860	83902	83902		Keratin associated proteins	18917	protein-coding gene	gene with protein product					NA		Standard		NM_031964	NA	Approved	KAP17.1	uc002hwj.3	Q9BYP8	OTTHUMG00000133433	ENST00000334202.3:c.129C>T	17.37:g.39471774G>A		NA		37	CCDS11387.1																																																																																			KRTAP17-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257296.1		-	ENST00000334202.3	Silent	SNP	17 : 39471774 - 39471774 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	83	5
LETM2	137994	broad.mit.edu	37	8	38261966	38261966	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr8:38261966G>A	ENST00000379957.4	+	8	1287	c.1160G>A	c.(1159-1161)cGc>cAc	p.R387H	LETM2_ENST00000523983.2_Missense_Mutation_p.R340H|LETM2_ENST00000297720.5_Missense_Mutation_p.R292H|LETM2_ENST00000524874.1_Missense_Mutation_p.R339H|LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000527710.1_Missense_Mutation_p.R173H	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	387						integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CTCCTGTCCCGCACCTTCTAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	149	162			NA	NA	8		NA											NA				38261966		2203	4300	6503	SO:0001583	missense			AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11					137994	137994		EF-hand domain containing	14648	protein-coding gene	gene with protein product					NA	11549311	Standard	NM_144652	NM_001286821	NA	Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.1160G>A	8.37:g.38261966G>A	ENSP00000369291:p.Arg387His	NA	A6NMG3|Q8NCR2|Q96LL1	37		.	.	.	.	.	.	.	.	.	.	G	27.9	4.869142	0.91587	.	.	ENSG00000165046	ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000527710	.	.	.	5.48	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.77315	0.4112	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.67725	0.953;0.881;0.912	T	0.80997	-0.1132	9	0.87932	D	0	-0.692	16.1208	0.81357	0.0:0.0:0.8653:0.1347	.	184;387;339	B7Z7T4;Q2VYF4;E9PMA4	.;LETM2_HUMAN;.	H	292;339;387;340;173	.	ENSP00000297720:R292H	R	+	2	0	LETM2	38381123	1.000000	0.71417	0.552000	0.28243	0.981000	0.71138	9.257000	0.95545	1.455000	0.47813	0.644000	0.83932	CGC	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000381816.1		+	ENST00000379957.4	Missense_Mutation	SNP	8 : 38261966 - 38261966 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	345	6
LLGL2	3993	broad.mit.edu	37	17	73567098	73567098	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:73567098G>A	ENST00000392550.3	+	17	2210	c.2093G>A	c.(2092-2094)cGc>cAc	p.R698H	LLGL2_ENST00000577200.1_Missense_Mutation_p.R698H|LLGL2_ENST00000167462.5_Missense_Mutation_p.R698H	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	698					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTGTGCAGCGCAAGATCGAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	74	71			NA	NA	17		NA											NA				73567098		2203	4300	6503	SO:0001583	missense			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350	3993	3993		WD repeat domain containing	6629	protein-coding gene	gene with protein product			lethal giant larvae (Drosophila) homolog 2		NA		Standard	NM_004524	XR_243659	NA	Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2093G>A	17.37:g.73567098G>A	ENSP00000376333:p.Arg698His	NA	Q14521|Q9BR62	37	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846873	0.51164	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.55413	0.52;0.52	5.0	4.01	0.46588	.	0.046387	0.85682	D	0.000000	T	0.74183	0.3683	M	0.83774	2.66	0.58432	D	0.999992	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.997;0.999;0.999;0.999	T	0.79369	-0.1832	10	0.87932	D	0	-1.0435	15.2325	0.73401	0.0:0.1412:0.8588:0.0	.	325;687;687;698;698	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	H	698;698;687	ENSP00000167462:R698H;ENSP00000376333:R698H	ENSP00000167462:R698H	R	+	2	0	LLGL2	71078693	1.000000	0.71417	0.999000	0.59377	0.782000	0.44232	9.807000	0.99171	1.076000	0.40961	0.555000	0.69702	CGC	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447633.1		+	ENST00000392550.3	Missense_Mutation	SNP	17 : 73567098 - 73567098 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	672	5
LRTM2	654429	broad.mit.edu	37	12	1943759	1943759	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr12:1943759G>A	ENST00000543818.1	+	5	1827	c.985G>A	c.(985-987)Gct>Act	p.A329T	CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000535041.1_Missense_Mutation_p.A329T|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.A329T	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	329						integral to membrane		p.A329T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGTGGTGGCCGCTGCCTATGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											47	43	44			NA	NA	12		NA											NA				1943759		2193	4271	6464	SO:0001583	missense			AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159	NA	654429			32443	protein-coding gene	gene with protein product					NA		Standard		NM_001039029	NA	Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.985G>A	12.37:g.1943759G>A	ENSP00000446278:p.Ala329Thr	NA		37	CCDS31726.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.13|17.13	3.309844|3.309844	0.60414|0.60414	.|.	.|.	ENSG00000166159|ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041|ENST00000424079	T;T;T|.	0.59502|.	0.26;0.26;0.26|.	5.44|5.44	4.55|4.55	0.56014|0.56014	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71626|0.71626	0.3362|0.3362	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.68765|.	0.96|.	T|T	0.75010|0.75010	-0.3468|-0.3468	10|6	0.87932|0.87932	D|D	0|0	.|.	14.1474|14.1474	0.65360|0.65360	0.072:0.0:0.928:0.0|0.072:0.0:0.928:0.0	.|.	329|.	Q8N967|.	LRTM2_HUMAN|.	T|H	329|85	ENSP00000446278:A329T;ENSP00000299194:A329T;ENSP00000444737:A329T|.	ENSP00000299194:A329T|ENSP00000394967:R85H	A|R	+|+	1|2	0|0	LRTM2|LRTM2	1814020|1814020	1.000000|1.000000	0.71417|0.71417	0.934000|0.934000	0.37439|0.37439	0.010000|0.010000	0.07245|0.07245	9.869000|9.869000	0.99810|0.99810	1.302000|1.302000	0.44855|0.44855	-0.136000|-0.136000	0.14681|0.14681	GCT|CGC	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398055.1		+	ENST00000543818.1	Missense_Mutation	SNP	12 : 1943759 - 1943759 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	373	5
MED1	5469	broad.mit.edu	37	17	37564496	37564496	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:37564496G>A	ENST00000394287.3	-	17	1846				MED1_ENST00000300651.6_Silent_p.D1326D			Q15648	MED1_HUMAN	mediator complex subunit 1	NA					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CCATCTGGCCGTCCAGTGGGT	0.512		NA								HNSCC(31;0.082)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(21;279 768 2492 4877 24026)							NA				0													85	93	90			NA	NA	17		NA											NA				37564496		2203	4299	6502	SO:0001627	intron_variant			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686	5469	5469			9234	protein-coding gene	gene with protein product		604311	PPAR binding protein	TRIP2, PPARGBP, PPARBP	NA	9325263, 10485914	Standard	NM_004774	NM_004774	NA	Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1640+2337C>T	17.37:g.37564496G>A		NA	A2RRQ6|O43810|O75447|Q6P9H7|Q6PK58|Q9HD39	37																																																																																				MED1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000256944.1		-	ENST00000394287.3	Intron	SNP	17 : 37564496 - 37564496 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	604	6
MYH11	4629	broad.mit.edu	37	16	15865513	15865513	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr16:15865513G>A	ENST00000452625.2	-	10	1054	c.967C>T	c.(967-969)Ccc>Tcc	p.P323S	MYH11_ENST00000300036.5_Missense_Mutation_p.P316S|MYH11_ENST00000396324.3_Missense_Mutation_p.P323S|MYH11_ENST00000576790.2_Missense_Mutation_p.P316S	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	316	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTGGGATGGGCACAAAGCCA	0.517		NA	T	CBFB	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16p13.13-p13.12	4629	myosin, heavy polypeptide 11, smooth muscle		L	0													118	97	104			NA	NA	16		NA											NA				15865513		2197	4300	6497	SO:0001583	missense			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392	4629	4629		Myosins / Myosin superfamily : Class II	7569	protein-coding gene	gene with protein product		160745	myosin, heavy polypeptide 11, smooth muscle		NA	7684189	Standard	NM_001040113	NM_001040113	NA	Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000452625.2:c.967C>T	16.37:g.15865513G>A	ENSP00000407821:p.Pro323Ser	NA	O00396|O94944|P78422	37	CCDS45424.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854428	0.51376	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.43	5.43	0.79202	Myosin head, motor domain (2);	0.148440	0.47852	D	0.000204	T	0.75642	0.3877	N	0.04335	-0.225	0.52501	D	0.999951	B;B;B;B;B;B	0.10296	0.0;0.001;0.001;0.001;0.001;0.003	B;B;B;B;B;B	0.17098	0.007;0.017;0.017;0.017;0.017;0.017	T	0.69774	-0.5054	10	0.30854	T	0.27	.	17.7989	0.88580	0.0:0.0:1.0:0.0	.	323;316;316;323;316;323	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	S	316;316;323;323;323	ENSP00000300036:P316S;ENSP00000345136:P316S;ENSP00000379616:P323S;ENSP00000407821:P323S	ENSP00000300036:P316S	P	-	1	0	MYH11	15773014	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	3.491000	0.53252	2.538000	0.85594	0.561000	0.74099	CCC	MYH11-013	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436647.2		-	ENST00000452625.2	Missense_Mutation	SNP	16 : 15865513 - 15865513 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	319	5
PAPSS2	9060	broad.mit.edu	37	10	89503202	89503202	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr10:89503202G>A	ENST00000361175.4	+	10	1649	c.1280G>A	c.(1279-1281)cGc>cAc	p.R427H	PAPSS2_ENST00000456849.1_Missense_Mutation_p.R432H|PAPSS2_ENST00000427144.2_Missense_Mutation_p.R431H	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	427					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		GACACTCGCCGCAGGCTCCTA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	104	106			NA	NA	10		NA											NA				89503202		2203	4300	6503	SO:0001583	missense			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	9060	9060	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005			NA	9771708	Standard		NM_004670	NA	Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1280G>A	10.37:g.89503202G>A	ENSP00000354436:p.Arg427His	NA	Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	37	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333777	0.81801	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.31247	1.5;1.5;1.5	5.33	3.49	0.39957	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.094954	0.85682	D	0.000000	T	0.52517	0.1739	M	0.76328	2.33	0.58432	D	0.999998	D;D	0.89917	0.998;1.0	D;D	0.79784	0.938;0.993	T	0.53194	-0.8473	10	0.52906	T	0.07	-19.4179	11.5618	0.50780	0.1428:0.0:0.8572:0.0	.	427;432	O95340;O95340-2	PAPS2_HUMAN;.	H	427;432;431;431	ENSP00000354436:R427H;ENSP00000406157:R432H;ENSP00000397123:R431H	ENSP00000354436:R427H	R	+	2	0	PAPSS2	89493182	1.000000	0.71417	0.027000	0.17364	0.993000	0.82548	9.257000	0.95545	0.826000	0.34661	0.561000	0.74099	CGC	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049229.1		+	ENST00000361175.4	Missense_Mutation	SNP	10 : 89503202 - 89503202 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	474	5
PARL	55486	broad.mit.edu	37	3	183547482	183547482	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:183547482G>A	ENST00000317096.4	-	10	1104	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	PARL_ENST00000435888.1_Silent_p.Y264Y|PARL_ENST00000311101.5_Silent_p.Y298Y	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	348					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	p.Y348Y(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTTCATGACCGTAAGTAACAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	prostate(1)											123	127	126			NA	NA	3		NA											NA				183547482		2203	4300	6503	SO:0001819	synonymous_variant			AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193	55486	55486			18253	protein-coding gene	gene with protein product	rhomboid 7 homolog 1 (Drosophila)	607858		PSARL	NA		Standard	NM_018622	XM_005247587	NA	Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.1044C>T	3.37:g.183547482G>A		NA	Q96CQ4|Q9BTJ6|Q9P1E3	37	CCDS3248.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.66|11.66	1.706359|1.706359	0.30232|0.30232	.|.	.|.	ENSG00000175193|ENSG00000175193	ENST00000450375;ENST00000417784|ENST00000418450	T|.	0.51325|.	0.71|.	5.71|5.71	-6.81|-6.81	0.01704|0.01704	.|.	.|.	.|.	.|.	.|.	T|T	0.65883|0.65883	0.2734|0.2734	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.68981|0.68981	-0.5266|-0.5266	5|4	.|.	.|.	.|.	-19.5416|-19.5416	18.3207|18.3207	0.90237|0.90237	0.3327:0.0:0.6673:0.0|0.3327:0.0:0.6673:0.0	.|.	.|.	.|.	.|.	W|M	62;140|81	ENSP00000402689:R62W|.	.|.	R|T	-|-	1|2	2|0	PARL|PARL	185030176|185030176	0.001000|0.001000	0.12720|0.12720	0.801000|0.801000	0.32222|0.32222	0.966000|0.966000	0.64601|0.64601	-1.489000|-1.489000	0.02306|0.02306	-1.663000|-1.663000	0.01481|0.01481	-0.414000|-0.414000	0.06135|0.06135	CGG|ACG	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346465.1		-	ENST00000317096.4	Silent	SNP	3 : 183547482 - 183547482 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	748	6
PGAM4	441531	broad.mit.edu	37	X	77224547	77224547	+	Missense_Mutation	SNP	C	C	G	rs148072662		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:77224547C>G	ENST00000458128.1	-	1	588	c.589G>C	c.(589-591)Gtg>Ctg	p.V197L	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	197					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						AGACCCTCCACATGCTTGGCA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	109	112			NA	NA	X		NA											NA				77224547		2203	4296	6499	SO:0001583	missense			AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784	441531	441531			21731	protein-coding gene	gene with protein product		300567	phosphoglycerate mutase family 4		NA	11961099, 9370262	Standard	NM_001029891	NM_001029891	NA	Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.589G>C	X.37:g.77224547C>G	ENSP00000412189:p.Val197Leu	NA	Q5JPN2|Q8NI24|Q8NI25|Q8NI26	37	CCDS35338.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.261655	0.01445	.	.	ENSG00000226784	ENST00000458128	T	0.75050	-0.9	0.119	-0.238	0.13055	.	0.228496	0.30901	N	0.008654	T	0.12050	0.0293	N	0.00000	-4.07	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.54589	-0.8271	9	.	.	.	-28.907	2.1607	0.03824	0.0:0.3336:0.3399:0.3265	.	197	Q8N0Y7	PGAM4_HUMAN	L	197	ENSP00000412189:V197L	.	V	-	1	0	PGAM4	77111203	1.000000	0.71417	0.624000	0.29186	0.632000	0.37999	1.491000	0.35583	-1.166000	0.02783	-1.192000	0.01694	GTG	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128371.2		-	ENST00000458128.1	Missense_Mutation	SNP	X : 77224547 - 77224547 G PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	394	6
PGAM4	441531	broad.mit.edu	37	X	77224555	77224555	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:77224555G>A	ENST00000458128.1	-	1	580	c.581C>T	c.(580-582)gCc>gTc	p.A194V	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	194					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						CACATGCTTGGCAATGCCCTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	106	109			NA	NA	X		NA											NA				77224555		2203	4296	6499	SO:0001583	missense			AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784	441531	441531			21731	protein-coding gene	gene with protein product		300567	phosphoglycerate mutase family 4		NA	11961099, 9370262	Standard	NM_001029891	NM_001029891	NA	Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.581C>T	X.37:g.77224555G>A	ENSP00000412189:p.Ala194Val	NA	Q5JPN2|Q8NI24|Q8NI25|Q8NI26	37	CCDS35338.1	.	.	.	.	.	.	.	.	.	.	G	0.437	-0.900331	0.02472	.	.	ENSG00000226784	ENST00000458128	T	0.79749	-1.3	0.119	-0.238	0.13055	.	0.073524	0.53938	N	0.000053	T	0.21509	0.0518	N	0.00002	-3.58	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.56517	-0.7966	9	.	.	.	-28.5563	3.8407	0.08912	0.6619:0.0:0.338:0.0	.	194	Q8N0Y7	PGAM4_HUMAN	V	194	ENSP00000412189:A194V	.	A	-	2	0	PGAM4	77111211	1.000000	0.71417	0.589000	0.28718	0.597000	0.36814	4.491000	0.60326	-0.870000	0.04047	-0.855000	0.03028	GCC	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128371.2		-	ENST00000458128.1	Missense_Mutation	SNP	X : 77224555 - 77224555 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	393	5
PI4KA	5297	broad.mit.edu	37	22	21161674	21161674	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr22:21161674G>A	ENST00000255882.6	-	10	1230	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	PI4KA_ENST00000572273.1_Missense_Mutation_p.R324C	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	324					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGAGTGTCACGCAGCATCTTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(136;1332 1831 3115 23601 50806)							NA				0													193	133	153			NA	NA	22		NA											NA				21161674		2203	4300	6503	SO:0001583	missense			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973	5297	5297			8983	protein-coding gene	gene with protein product		600286		PIK4CA	NA	7961848, 8662589	Standard	NM_058004	NM_002650	NA	Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000255882.6:c.1144C>T	22.37:g.21161674G>A	ENSP00000255882:p.Arg382Cys	NA	Q7Z625|Q9UPG2	37	CCDS33603.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939393	0.73557	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.24	1.8	0.24995	.	0.102520	0.64402	D	0.000005	T	0.69378	0.3104	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.98	T	0.69124	-0.5228	9	0.87932	D	0	-3.9646	7.1937	0.25841	0.0867:0.0:0.3995:0.5138	.	382;324	D3DX33;P42356	.;PI4KA_HUMAN	C	324	.	ENSP00000255882:R324C	R	-	1	0	PI4KA	19491674	1.000000	0.71417	0.511000	0.27724	0.941000	0.58515	3.750000	0.55157	0.776000	0.33473	-0.136000	0.14681	CGT	PI4KA-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075723.5		-	ENST00000255882.6	Missense_Mutation	SNP	22 : 21161674 - 21161674 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	172	4
PKNOX2	63876	broad.mit.edu	37	11	125280125	125280125	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:125280125G>A	ENST00000298282.9	+	8	893	c.622G>A	c.(622-624)Gga>Aga	p.G208R	PKNOX2_ENST00000542175.1_Missense_Mutation_p.G144R|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	208						nucleus	sequence-specific DNA binding transcription factor activity	p.G208R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TTCCATGTCCGGAGTCTCCAA	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)	upper_aerodigestive_tract(1)											124	129	127			NA	NA	11		NA											NA				125280125		2066	4220	6286	SO:0001583	missense			AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495	63876	63876		Homeoboxes / TALE class	16714	protein-coding gene	gene with protein product		613066			NA	11549286	Standard		NM_022062	NA	Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.622G>A	11.37:g.125280125G>A	ENSP00000298282:p.Gly208Arg	NA	Q63HL6|Q86XD1	37	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437618	0.62955	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175;ENST00000535518	D;D;D;D	0.84516	-1.86;-1.86;-1.85;-1.85	5.62	5.62	0.85841	.	0.092956	0.44902	D	0.000403	T	0.78616	0.4311	L	0.32530	0.975	0.48452	D	0.999655	P;B	0.34757	0.467;0.355	B;B	0.28011	0.085;0.036	T	0.76329	-0.2999	10	0.30854	T	0.27	-6.3419	19.2564	0.93947	0.0:0.0:1.0:0.0	.	144;208	F5GZ15;Q96KN3	.;PKNX2_HUMAN	R	179;179;208;144;196	ENSP00000434732:G179R;ENSP00000433971:G179R;ENSP00000298282:G208R;ENSP00000441470:G144R	ENSP00000298282:G208R	G	+	1	0	PKNOX2	124785335	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.309000	0.43699	2.633000	0.89246	0.655000	0.94253	GGA	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386866.3		+	ENST00000298282.9	Missense_Mutation	SNP	11 : 125280125 - 125280125 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	880	6
POU2F1	5451	broad.mit.edu	37	1	167385027	167385027	+	Missense_Mutation	SNP	A	A	G			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:167385027A>G	ENST00000367862.5	+	16	2483	c.2248A>G	c.(2248-2250)Acc>Gcc	p.T750A	POU2F1_ENST00000541643.3_Missense_Mutation_p.T738A|POU2F1_ENST00000367866.2_Missense_Mutation_p.T761A|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.T698A	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	738					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CACCACCACCACCGCCTCCAA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	82	81			NA	NA	1		NA											NA				167385027		2201	4300	6501	SO:0001583	missense			BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190	5451	5451		Homeoboxes / POU class	9212	protein-coding gene	gene with protein product		164175	POU domain class 2, transcription factor 1	OTF1	NA	1887216	Standard	NM_002697	NM_002697	NA	Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000367862.5:c.2248A>G	1.37:g.167385027A>G	ENSP00000356836:p.Thr750Ala	NA	B1AL91|B1AL93|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	37	CCDS55656.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.809648	0.31961	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000541643;ENST00000367862	D;D;D;D;D	0.86097	-2.07;-2.03;-2.05;-2.04;-2.05	5.91	4.79	0.61399	.	0.919652	0.09285	N	0.823231	T	0.56232	0.1971	N	0.22421	0.69	0.31475	N	0.667872	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.26538	-1.0100	9	0.17832	T	0.49	.	6.4637	0.21970	0.7877:0.0:0.0736:0.1387	.	698;750;736;738	B4E029;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	A	761;698;736;738;750	ENSP00000356840:T761A;ENSP00000401217:T698A;ENSP00000356839:T736A;ENSP00000441285:T738A;ENSP00000356836:T750A	ENSP00000356836:T750A	T	+	1	0	POU2F1	165651651	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	4.700000	0.61803	1.072000	0.40860	0.533000	0.62120	ACC	POU2F1-003	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083248.2		+	ENST00000367862.5	Missense_Mutation	SNP	1 : 167385027 - 167385027 G PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	754	9
PSG9	5678	broad.mit.edu	37	19	43763169	43763169	+	Silent	SNP	G	G	A	rs2355449	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:43763169G>A	ENST00000418820.2	-	3	647	c.549C>T	c.(547-549)aaC>aaT	p.N183N	PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Silent_p.N276N|PSG9_ENST00000443718.3_Silent_p.N183N|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000244293.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	183	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGCTCTGACCGTTTAGCCACC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A		2,4298		0,2,2148	220	231	227		828	-2.8	0	19	dbSNP_100	227	2,8562		0,2,4280	no	coding-synonymous	PSG9	NM_002784.3		0,4,6428	AA,AG,GG	NA	0.0234,0.0465,0.0311		276/427	43763169	4,12860	2150	4282	6432	SO:0001819	synonymous_variant			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668	5678	5678		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9526	protein-coding gene	gene with protein product		176398		PSG11	NA	7806221	Standard	NM_002784	XM_005259076	NA	Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000418820.2:c.549C>T	19.37:g.43763169G>A		NA	B2R869|Q15236|Q15237|Q8WW78|Q9UQ73	37																																																																																				PSG9-011	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000463916.1		-	ENST00000418820.2	Silent	SNP	19 : 43763169 - 43763169 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	1409	10
PTGFR	5737	broad.mit.edu	37	1	79002208	79002208	+	Missense_Mutation	SNP	C	C	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:79002208C>A	ENST00000370757.3	+	3	1153	c.916C>A	c.(916-918)Ctt>Att	p.L306I	PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.L306I	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	306					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GGTATATATTCTTCTACGAAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	134	133			NA	NA	1		NA											NA				79002208		2203	4300	6503	SO:0001583	missense			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420	5737	5737		GPCR / Class A : Prostanoid receptors	9600	protein-coding gene	gene with protein product		600563			NA	8300593, 7759114	Standard	NM_000959	XM_006710781	NA	Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.916C>A	1.37:g.79002208C>A	ENSP00000359793:p.Leu306Ile	NA	A8K9Y0|Q2KHP3|Q9P1X4	37	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743931	0.89663	.	.	ENSG00000122420	ENST00000370758;ENST00000370757	T;T	0.44881	0.91;0.91	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	M	0.65498	2.005	0.52501	D	0.999954	D	0.76494	0.999	D	0.78314	0.991	T	0.57551	-0.7792	10	0.54805	T	0.06	-21.887	20.1454	0.98074	0.0:1.0:0.0:0.0	.	306	P43088	PF2R_HUMAN	I	306	ENSP00000359794:L306I;ENSP00000359793:L306I	ENSP00000359793:L306I	L	+	1	0	PTGFR	78774796	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.903000	0.69877	2.840000	0.97914	0.655000	0.94253	CTT	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026582.1		+	ENST00000370757.3	Missense_Mutation	SNP	1 : 79002208 - 79002208 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	546	7
RAB11FIP1	80223	broad.mit.edu	37	8	37732058	37732058	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr8:37732058G>A	ENST00000330843.4	-	3	1609	c.1597C>T	c.(1597-1599)Ccc>Tcc	p.P533S	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.P533S|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.P385S|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.P385S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	533					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGGTCTGGGGAGCCCTCGGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	59	59			NA	NA	8		NA											NA				37732058		2203	4300	6503	SO:0001583	missense			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675	80223	80223			30265	protein-coding gene	gene with protein product		608737			NA	11786538, 11495908	Standard	NM_025151	NM_001002814	NA	Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1597C>T	8.37:g.37732058G>A	ENSP00000331342:p.Pro533Ser	NA	Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	37	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937277	0.52972	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.31247	2.24;2.1;1.51;1.5	5.03	4.14	0.48551	.	0.408600	0.23672	N	0.045718	T	0.16300	0.0392	L	0.32530	0.975	0.19300	N	0.999972	B;B;P;P	0.38148	0.068;0.194;0.617;0.62	B;B;B;B	0.33960	0.009;0.066;0.173;0.138	T	0.10428	-1.0630	10	0.12766	T	0.61	-6.1245	4.077	0.09909	0.0874:0.1748:0.5807:0.1571	.	385;385;533;533	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	S	533;533;385;385	ENSP00000287263:P533S;ENSP00000331342:P533S;ENSP00000430009:P385S;ENSP00000430680:P385S	ENSP00000287263:P533S	P	-	1	0	RAB11FIP1	37851216	0.984000	0.35163	0.794000	0.32065	0.871000	0.50021	2.561000	0.45905	1.071000	0.40834	0.655000	0.94253	CCC	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376816.1		-	ENST00000330843.4	Missense_Mutation	SNP	8 : 37732058 - 37732058 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	442	7
RFC2	5982	broad.mit.edu	37	7	73663432	73663432	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:73663432C>T	ENST00000055077.3	-	4	302	c.242G>A	c.(241-243)gGc>gAc	p.G81D	RFC2_ENST00000352131.3_Missense_Mutation_p.G81D	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	81					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						TGTGGTCTTGCCGGTTCCTGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	77	75			NA	NA	7		NA											NA				73663432		2203	4300	6503	SO:0001583	missense				CCDS5567.1, CCDS5568.1, CCDS75618.1	7q11.23	2010-04-21	2002-08-29		ENSG00000049541	ENSG00000049541	5982	5982		ATPases / AAA-type	9970	protein-coding gene	gene with protein product	activator 1	600404	replication factor C (activator 1) 2 (40kD)		NA	1313560, 7774928	Standard	NM_181471	NM_181471	NA	Approved	A1, RFC40	uc003uaj.3	P35250	OTTHUMG00000023239	ENST00000055077.3:c.242G>A	7.37:g.73663432C>T	ENSP00000055077:p.Gly81Asp	NA	B5BU07|D3DXG3|P32846|Q9BU93	37	CCDS5568.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040840	0.75732	.	.	ENSG00000049541	ENST00000352131;ENST00000055077	D;D	0.93859	-3.3;-3.3	4.65	4.65	0.58169	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.047563	0.85682	D	0.000000	D	0.97523	0.9189	H	0.98769	4.325	0.80722	D	1	P;P;D	0.56746	0.705;0.749;0.977	P;P;P	0.55112	0.519;0.651;0.769	D	0.98834	1.0752	10	0.87932	D	0	.	14.6174	0.68558	0.0:1.0:0.0:0.0	.	81;81;81	P35250-2;Q75MT5;P35250	.;.;RFC2_HUMAN	D	81	ENSP00000275627:G81D;ENSP00000055077:G81D	ENSP00000055077:G81D	G	-	2	0	RFC2	73301368	1.000000	0.71417	0.992000	0.48379	0.622000	0.37654	7.444000	0.80532	2.318000	0.78349	0.455000	0.32223	GGC	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252459.2		-	ENST00000055077.3	Missense_Mutation	SNP	7 : 73663432 - 73663432 T PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	497	5
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				6	Substitution - Missense(6)	endometrium(6)											164	133	142			NA	NA	2		NA											NA				107049681		692	1590	2282	SO:0001583	missense				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165	653489	653489		Tetratricopeptide (TTC) repeat domain containing	32416	protein-coding gene	gene with protein product		612706			NA	15710750, 15815621	Standard	XM_929931	NM_001144013	NA	Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp	NA	B8ZZM4	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329975.1		-	ENST00000409886.3	Missense_Mutation	SNP	2 : 107049681 - 107049681 C PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	836	9
RLN2	6019	broad.mit.edu	37	9	5304440	5304440	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:5304440G>A	ENST00000381627.3	-	1	529	c.141C>T	c.(139-141)tgC>tgT	p.C47C	RLN2_ENST00000308420.3_Silent_p.C47C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	47					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TGCTCATGCCGCAAATGGCAA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	42	42			NA	NA	9		NA											NA				5304440		2203	4297	6500	SO:0001819	synonymous_variant				CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014	6019	6019		Endogenous ligands	10027	protein-coding gene	gene with protein product	relaxin H2, prorelaxin H2, relaxin, ovarian, of pregnancy	179740	relaxin 2 (H2)		NA	6548703, 6548702	Standard	NM_134441	NM_134441	NA	Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.141C>T	9.37:g.5304440G>A		NA	A0AVM0|Q99936|Q9UCX3|Q9UQJ2	37	CCDS6460.1																																																																																			RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051619.1		-	ENST00000381627.3	Silent	SNP	9 : 5304440 - 5304440 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	280	5
RNF133	168433	broad.mit.edu	37	7	122338787	122338787	+	Missense_Mutation	SNP	A	A	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:122338787A>T	ENST00000340112.2	-	1	423	c.186T>A	c.(184-186)ttT>ttA	p.F62L	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	62						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						AGCTTCTTCCAAAGACTCCAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(198;1778 2057 7449 19869 45985)							NA				0													108	110	110			NA	NA	7		NA											NA				122338787		2203	4300	6503	SO:0001583	missense			AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050	168433	168433		RING-type (C3HC4) zinc fingers	21154	protein-coding gene	gene with protein product					NA		Standard	NM_139175	NM_139175	NA	Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.186T>A	7.37:g.122338787A>T	ENSP00000344489:p.Phe62Leu	NA	A4D0W2|Q8N7G7	37	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.079128	0.76528	.	.	ENSG00000188050	ENST00000340112	T	0.24538	1.85	6.06	3.71	0.42584	.	0.154247	0.43747	D	0.000537	T	0.42471	0.1204	M	0.65498	2.005	0.80722	D	1	D	0.55605	0.972	P	0.60012	0.867	T	0.25710	-1.0124	10	0.87932	D	0	.	9.7273	0.40339	0.8574:0.0:0.1426:0.0	.	62	Q8WVZ7	RN133_HUMAN	L	62	ENSP00000344489:F62L	ENSP00000344489:F62L	F	-	3	2	RNF133	122126023	1.000000	0.71417	0.997000	0.53966	0.845000	0.48019	0.994000	0.29693	0.542000	0.28846	0.533000	0.62120	TTT	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347413.1		-	ENST00000340112.2	Missense_Mutation	SNP	7 : 122338787 - 122338787 T PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	580	9
RNF181	51255	broad.mit.edu	37	2	85824016	85824016	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:85824016C>T	ENST00000441634.1	+	3	328	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F	RNF181_ENST00000306368.4_Missense_Mutation_p.L97F			Q9P0P0	RN181_HUMAN	ring finger protein 181	97							ligase activity|zinc ion binding			lung(1)|stomach(1)	2						TTGCCATCACCTTTTCCATTC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	188	192			NA	NA	2		NA											NA				85824016		2203	4300	6503	SO:0001583	missense			AF151072	CCDS1981.1	2p11.2	2013-01-09			ENSG00000168894	ENSG00000168894	51255	51255		RING-type (C3HC4) zinc fingers	28037	protein-coding gene	gene with protein product		612490			NA	11042152	Standard	NM_016494	XM_005264359	NA	Approved	HSPC238	uc002spv.1	Q9P0P0	OTTHUMG00000130182	ENST00000441634.1:c.289C>T	2.37:g.85824016C>T	ENSP00000412025:p.Leu97Phe	NA	Q53H81	37		.	.	.	.	.	.	.	.	.	.	C	14.21	2.466170	0.43839	.	.	ENSG00000168894	ENST00000441634;ENST00000306368	T;T	0.44482	0.92;0.92	5.75	4.88	0.63580	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.059226	0.64402	N	0.000002	T	0.23965	0.0580	N	0.11106	0.095	0.54753	D	0.999988	B	0.16603	0.018	B	0.21917	0.037	T	0.06716	-1.0811	10	0.14252	T	0.57	.	12.4863	0.55874	0.0:0.9193:0.0:0.0807	.	97	Q9P0P0	RN181_HUMAN	F	97	ENSP00000412025:L97F;ENSP00000306906:L97F	ENSP00000306906:L97F	L	+	1	0	RNF181	85677527	0.986000	0.35501	1.000000	0.80357	0.993000	0.82548	1.548000	0.36201	1.432000	0.47375	0.655000	0.94253	CTT	RNF181-005	PUTATIVE	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000329459.2		+	ENST00000441634.1	Missense_Mutation	SNP	2 : 85824016 - 85824016 T PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	684	11
RNF25	64320	broad.mit.edu	37	2	219529962	219529962	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:219529962G>A	ENST00000295704.2	-	8	1022	c.582C>T	c.(580-582)gtC>gtT	p.V194V		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	194					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTGCACACCGACTGCCTTCT	0.532		NA											G	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9049	EXOME	NA	NA	7e-04	SNP								NA				0													85	79	81			NA	NA	2		NA											NA				219529962		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481	64320	64320		RING-type (C3HC4) zinc fingers	14662	protein-coding gene	gene with protein product					NA	12748188	Standard	NM_022453	NM_022453	NA	Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.582C>T	2.37:g.219529962G>A		NA	A8K0D6|Q53HQ5|Q9H874	37	CCDS2420.1																																																																																			RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256721.1		-	ENST00000295704.2	Silent	SNP	2 : 219529962 - 219529962 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	319	8
RXRB	6257	broad.mit.edu	37	6	33166123	33166123	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr6:33166123C>T	ENST00000374680.3	-	3	813	c.602G>A	c.(601-603)gGc>gAc	p.G201D	RXRB_ENST00000544186.1_Missense_Mutation_p.G11D|RXRB_ENST00000374685.4_Missense_Mutation_p.G201D|RXRB_ENST00000413614.2_Missense_Mutation_p.G105D	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	201	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TAGCCGTTTGCCAGCCCCAGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	144	136			NA	NA	6		NA											NA				33166123		1508	2707	4215	SO:0001583	missense			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231	6257	6257		Nuclear hormone receptors	10478	protein-coding gene	gene with protein product	nuclear receptor subfamily 2 group B member 2	180246			NA	8257090	Standard	NM_021976	NM_021976	NA	Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.602G>A	6.37:g.33166123C>T	ENSP00000363812:p.Gly201Asp	NA	P28703	37	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864280	0.51482	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186;ENST00000413614	D;D;D;D	0.93189	-3.16;-3.16;-3.18;-3.0	5.11	5.11	0.69529	.	0.376195	0.30649	N	0.009176	D	0.91553	0.7332	N	0.19112	0.55	0.43187	D	0.995017	D;D;D;B;B;P;P;P	0.69078	0.997;0.988;0.995;0.04;0.305;0.737;0.92;0.737	D;P;P;B;B;B;B;B	0.63597	0.916;0.837;0.72;0.045;0.109;0.22;0.345;0.22	D	0.92106	0.5692	10	0.45353	T	0.12	.	16.0896	0.81084	0.0:1.0:0.0:0.0	.	105;201;84;11;201;201;241;201	B7Z3E4;B7Z6J2;B7Z6X3;E9PK95;Q5STQ1;Q5STP9;Q59G65;P28702	.;.;.;.;.;.;.;RXRB_HUMAN	D	201;201;11;105	ENSP00000363817:G201D;ENSP00000363812:G201D;ENSP00000439222:G11D;ENSP00000415561:G105D	ENSP00000363812:G201D	G	-	2	0	RXRB	33274101	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.205000	0.42770	2.644000	0.89710	0.549000	0.68633	GGC	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076642.2		-	ENST00000374680.3	Missense_Mutation	SNP	6 : 33166123 - 33166123 T PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	953	6
SAMD9L	219285	broad.mit.edu	37	7	92761818	92761818	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:92761818G>A	ENST00000318238.4	-	5	4683	c.3467C>T	c.(3466-3468)gCg>gTg	p.A1156V	SAMD9L_ENST00000437805.1_Missense_Mutation_p.A1156V|SAMD9L_ENST00000411955.1_Missense_Mutation_p.A1156V	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1156										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GGCTTTTTCCGCAGCTTCTAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	0,4406		0,0,2203	130	136	134		3467	4	0.9	7		134	2,8598	2.2+/-6.3	0,2,4298	no	missense	SAMD9L	NM_152703.2	64	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	possibly-damaging	1156/1585	92761818	2,13004	2203	4300	6503	SO:0001583	missense			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409	219285	219285		Sterile alpha motif (SAM) domain containing	1349	protein-coding gene	gene with protein product		611170	chromosome 7 open reading frame 6	C7orf6	NA		Standard	NM_152703	NM_152703	NA	Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3467C>T	7.37:g.92761818G>A	ENSP00000326247:p.Ala1156Val	NA	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441676	0.43326	0.0	2.33E-4	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.29917	1.55;1.55;1.55	4.88	4.0	0.46444	.	0.000000	0.64402	D	0.000001	T	0.30634	0.0771	M	0.71036	2.16	0.51767	D	0.999932	P	0.47350	0.894	B	0.35971	0.215	T	0.35051	-0.9804	10	0.87932	D	0	-9.6701	12.8992	0.58115	0.0796:0.0:0.9204:0.0	.	1156	Q8IVG5	SAM9L_HUMAN	V	1156	ENSP00000326247:A1156V;ENSP00000405760:A1156V;ENSP00000408796:A1156V	ENSP00000326247:A1156V	A	-	2	0	SAMD9L	92599754	0.996000	0.38824	0.853000	0.33588	0.020000	0.10135	2.453000	0.44970	1.283000	0.44513	-0.373000	0.07131	GCG	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341730.1		-	ENST00000318238.4	Missense_Mutation	SNP	7 : 92761818 - 92761818 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	818	7
SMARCC1	6599	broad.mit.edu	37	3	47651727	47651727	+	Missense_Mutation	SNP	T	T	C			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:47651727T>C	ENST00000254480.5	-	26	2991	c.2872A>G	c.(2872-2874)Atg>Gtg	p.M958V	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	958					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TGCTGTTCCATTTGCTGTCGT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													309	270	283			NA	NA	3		NA											NA				47651727		2203	4300	6503	SO:0001583	missense			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473	6599	6599			11104	protein-coding gene	gene with protein product		601732			NA	8804307	Standard		NM_003074	NA	Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2872A>G	3.37:g.47651727T>C	ENSP00000254480:p.Met958Val	NA	Q17RS0|Q6P172|Q8IWH2	37	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	T	2.078	-0.411502	0.04799	.	.	ENSG00000173473	ENST00000254480	T	0.62498	0.02	5.85	4.68	0.58851	.	0.177402	0.64402	D	0.000018	T	0.31451	0.0797	N	0.02011	-0.69	0.38545	D	0.949318	B	0.06786	0.001	B	0.06405	0.002	T	0.17806	-1.0357	10	0.08837	T	0.75	-19.8043	11.3715	0.49702	0.0:0.0:0.2894:0.7106	.	958	Q92922	SMRC1_HUMAN	V	958	ENSP00000254480:M958V	ENSP00000254480:M958V	M	-	1	0	SMARCC1	47626731	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	3.897000	0.56273	1.014000	0.39417	-0.316000	0.08728	ATG	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257491.1		-	ENST00000254480.5	Missense_Mutation	SNP	3 : 47651727 - 47651727 C PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	1004	14
SMU1	55234	broad.mit.edu	37	9	33068870	33068870	+	Silent	SNP	G	G	A	rs113018466	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:33068870G>A	ENST00000397149.3	-	4	503	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	151						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CACTGACTTCGCCAGCTAAGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		10,4396	17.9+/-39.9	0,10,2193	191	152	166		453	-0.1	1	9	dbSNP_132	166	0,8600		0,0,4300	no	coding-synonymous	SMU1	NM_018225.2		0,10,6493	AA,AG,GG	NA	0.0,0.227,0.0769		151/514	33068870	10,12996	2203	4300	6503	SO:0001819	synonymous_variant			AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692	55234	55234		WD repeat domain containing	18247	protein-coding gene	gene with protein product	functional spliceosome-associated protein 57				NA	11438655, 11410362	Standard	NM_018225	NM_018225	NA	Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.453C>T	9.37:g.33068870G>A		NA	Q9BU59|Q9HA96|Q9NVD1	37	CCDS6534.1																																																																																			SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052022.1		-	ENST00000397149.3	Silent	SNP	9 : 33068870 - 33068870 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	264	7
SPATA17	128153	broad.mit.edu	37	1	217975123	217975123	+	Missense_Mutation	SNP	C	C	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:217975123C>A	ENST00000366933.4	+	9	991	c.936C>A	c.(934-936)agC>agA	p.S312R	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	312						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ATTTATCAAGCAAGTATGGTC	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	56			NA	NA	1		NA											NA				217975123		2200	4291	6491	SO:0001583	missense			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814	128153	128153			25184	protein-coding gene	gene with protein product	IQ motif containing H	611032			NA	16395525	Standard	NM_138796	NM_138796	NA	Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.936C>A	1.37:g.217975123C>A	ENSP00000355900:p.Ser312Arg	NA		37	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819364	0.71028	.	.	ENSG00000162814	ENST00000366933	T	0.49139	0.79	4.9	2.94	0.34122	.	0.581965	0.16566	N	0.208837	T	0.50599	0.1625	M	0.71581	2.175	0.27832	N	0.941417	P	0.50272	0.933	P	0.48030	0.564	T	0.49661	-0.8916	10	0.72032	D	0.01	-12.2977	7.412	0.27023	0.1261:0.6661:0.0:0.2078	.	312	Q96L03	SPT17_HUMAN	R	312	ENSP00000355900:S312R	ENSP00000355900:S312R	S	+	3	2	SPATA17	216041746	0.996000	0.38824	0.990000	0.47175	0.453000	0.32348	0.228000	0.17814	1.150000	0.42419	0.563000	0.77884	AGC	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092433.2		+	ENST00000366933.4	Missense_Mutation	SNP	1 : 217975123 - 217975123 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	175	5
SPEG	10290	broad.mit.edu	37	2	220341686	220341686	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:220341686G>A	ENST00000312358.7	+	19	4674	c.4542G>A	c.(4540-4542)ccG>ccA	p.P1514P	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1514	Ig-like 8.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AACCACTGCCGGACATCATGT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	67	65			NA	NA	2		NA											NA				220341686		2084	4207	6291	SO:0001819	synonymous_variant			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195	10290	10290		Immunoglobulin superfamily / I-set domain containing	16901	protein-coding gene	gene with protein product		615950	aortic preferentially expressed gene 1	APEG1	NA	8663449, 10973969	Standard	NM_005876	NM_005876	NA	Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4542G>A	2.37:g.220341686G>A		NA	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	37	CCDS42824.1																																																																																			SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130252.2		+	ENST00000312358.7	Silent	SNP	2 : 220341686 - 220341686 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	369	5
SRI	6717	broad.mit.edu	37	7	87840221	87840221	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:87840221G>A	ENST00000265729.2	-	4	277	c.225C>T	c.(223-225)tgC>tgT	p.C75C	SRI_ENST00000394641.3_Silent_p.C60C|SRI_ENST00000431660.1_Silent_p.C60C|SRI_ENST00000490437.1_Silent_p.C32C|SRI_ENST00000419179.1_Silent_p.C75C	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	75	EF-hand 2.				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					CCATAAGCCGGCAAGTCTCCA	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	52	52			NA	NA	7		NA											NA				87840221		2203	4295	6498	SO:0001819	synonymous_variant			M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142	6717	6717		EF-hand domain containing	11292	protein-coding gene	gene with protein product		182520			NA	2901906	Standard	NM_003130	NM_001256891	NA	Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.225C>T	7.37:g.87840221G>A		NA	D6W5Q0	37	CCDS5612.1																																																																																			SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253680.1		-	ENST00000265729.2	Silent	SNP	7 : 87840221 - 87840221 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	277	5
TCHH	7062	broad.mit.edu	37	1	152082631	152082631	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:152082631C>T	ENST00000368804.1	-	2	3061	c.3062G>A	c.(3061-3063)cGc>cAc	p.R1021H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1021	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTTTTTTGCGGTActgcct	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	101	101			NA	NA	1		NA											NA				152082631		1983	4145	6128	SO:0001583	missense			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450	7062	7062		EF-hand domain containing	11791	protein-coding gene	gene with protein product		190370		THH	NA	1431214	Standard	NM_007113	NM_007113	NA	Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3062G>A	1.37:g.152082631C>T	ENSP00000357794:p.Arg1021His	NA	Q5VUI3	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	7.212	0.595657	0.13875	.	.	ENSG00000159450	ENST00000368804	T	0.14144	2.53	2.67	-1.04	0.10068	.	.	.	.	.	T	0.01489	0.0048	N	0.19112	0.55	0.09310	N	1	P	0.39624	0.681	B	0.24541	0.054	T	0.43032	-0.9416	9	0.41790	T	0.15	.	2.5479	0.04742	0.3961:0.3433:0.0:0.2606	.	1021	Q07283	TRHY_HUMAN	H	1021	ENSP00000357794:R1021H	ENSP00000357794:R1021H	R	-	2	0	TCHH	150349255	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.086000	0.14935	-0.613000	0.05694	0.462000	0.41574	CGC	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036671.2		-	ENST00000368804.1	Missense_Mutation	SNP	1 : 152082631 - 152082631 T PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	717	6
TRIM28	10155	broad.mit.edu	37	19	59057217	59057217	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:59057217G>A	ENST00000253024.5	+	3	829	c.540G>A	c.(538-540)gcG>gcA	p.A180A	TRIM28_ENST00000341753.6_Intron	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	180	RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GTGTAGAGGCGCACCAGCGGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	77	80			NA	NA	19		NA											NA				59057217		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726	10155	10155		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers, Zinc fingers, PHD-type	16384	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 157	601742	tripartite motif-containing 28		NA	11331580, 11226167	Standard	NM_005762	NM_005762	NA	Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.540G>A	19.37:g.59057217G>A		NA	O00677|Q7Z632|Q93040|Q96IM1	37	CCDS12985.1																																																																																			TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467074.1		+	ENST00000253024.5	Silent	SNP	19 : 59057217 - 59057217 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	341	5
TRIOBP	11078	broad.mit.edu	37	22	38120997	38120997	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr22:38120997C>T	ENST00000406386.3	+	7	2689	c.2434C>T	c.(2434-2436)Cag>Tag	p.Q812*		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	812					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGCCACCCAACAGGACAACCC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	170	167			NA	NA	22		NA											NA				38120997		1982	4174	6156	SO:0001587	stop_gained			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106	11078	11078		Pleckstrin homology (PH) domain containing	17009	protein-coding gene	gene with protein product		609761		DFNB28	NA	11148140, 16385457, 16385458	Standard		NM_001039141	NA	Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2434C>T	22.37:g.38120997C>T	ENSP00000384312:p.Gln812*	NA	B1AHD4|B1AHD7|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	39	7.393041	0.98255	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	.	.	.	4.21	0.597	0.17504	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	9.6691	0.40002	0.5296:0.4704:0.0:0.0	.	.	.	.	X	812	.	ENSP00000384312:Q812X	Q	+	1	0	TRIOBP	36450943	0.000000	0.05858	0.000000	0.03702	0.516000	0.34256	-3.739000	0.00379	0.030000	0.15379	0.460000	0.39030	CAG	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319439.2		+	ENST00000406386.3	Nonsense_Mutation	SNP	22 : 38120997 - 38120997 T PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	408	8
TTLL8	164714	broad.mit.edu	37	22	50487686	50487686	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr22:50487686C>T	ENST00000477219.1	-	0	175				TTLL8_ENST00000440475.1_Missense_Mutation_p.D86N|TTLL8_ENST00000266182.6_Missense_Mutation_p.D86N					tubulin tyrosine ligase-like family, member 8	NA										NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		ACCATCACGTCGTGGATGTTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													323	344	337			NA	NA	22		NA											NA				50487686		2113	4232	6345	SO:0001623	5_prime_UTR_variant					22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892	164714	164714		Tubulin tyrosine ligase-like family	34000	protein-coding gene	gene with protein product					NA	15890843	Standard	NM_001080447	XM_003403745	NA	Approved			A6PVC2	OTTHUMG00000150241	ENST00000477219.1:c.-133G>A	22.37:g.50487686C>T		NA		37		.	.	.	.	.	.	.	.	.	.	C	3.584	-0.084930	0.07097	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.16743	2.32;2.32;2.32	4.67	2.56	0.30785	.	0.851391	0.09565	U	0.785033	T	0.12050	0.0293	N	0.19112	0.55	0.20638	N	0.999876	B	0.13145	0.007	B	0.06405	0.002	T	0.33727	-0.9857	10	0.30078	T	0.28	.	11.2427	0.48979	0.0:0.8981:0.0:0.1019	.	86	B5MDV0	.	N	86;86;122	ENSP00000266182:D86N;ENSP00000387509:D86N;ENSP00000392252:D122N	ENSP00000266182:D86N	D	-	1	0	TTLL8	48829813	0.009000	0.17119	0.054000	0.19295	0.000000	0.00434	1.434000	0.34958	0.390000	0.25115	-1.149000	0.01842	GAC	TTLL8-001	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000317007.1		-	ENST00000477219.1	5'UTR	SNP	22 : 50487686 - 50487686 T PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	640	12
TTN	7273	broad.mit.edu	37	2	179476531	179476531	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:179476531G>A	ENST00000589042.1	-	268	50729	c.50505C>T	c.(50503-50505)ggC>ggT	p.G16835G	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.G14267G|TTN_ENST00000460472.2_Silent_p.G7770G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.G7895G|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.G7962G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.G15194G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15194							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTGGGTGGCCAACTCCAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	134	136			NA	NA	2		NA											NA				179476531		1948	4148	6096	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.50505C>T	2.37:g.179476531G>A		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179476531 - 179476531 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	646	6
U2AF2	11338	broad.mit.edu	37	19	56185361	56185361	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:56185361G>A	ENST00000450554.2	+	12	2302	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.R284H|U2AF2_ENST00000308924.4_Missense_Mutation_p.R452H|CTD-2537I9.12_ENST00000589456.1_RNA	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	452	RRM 3.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CTGACGGGCCGCAAGTTCGCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	81	82			NA	NA	19		NA											NA				56185361		2203	4300	6503	SO:0001583	missense			BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244	11338	11338		RNA binding motif (RRM) containing	23156	protein-coding gene	gene with protein product	U2 small nuclear ribonucleoprotein auxiliary factor (65kD), splicing factor U2AF 65 kD subunit, U2 snRNP auxiliary factor large subunit	191318	U2 (RNU2) small nuclear RNA auxiliary factor 2		NA	1538748	Standard	NM_007279	XM_006722994	NA	Approved	U2AF65	uc002qlu.3	P26368		ENST00000450554.2:c.1343G>A	19.37:g.56185361G>A	ENSP00000388475:p.Arg448His	NA	Q96HC5	37	CCDS46197.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397206	0.96009	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.16743	2.32;2.32	4.42	4.42	0.53409	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	T	0.56963	0.2021	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74518	-0.3639	10	0.87932	D	0	-18.4012	16.161	0.81712	0.0:0.0:1.0:0.0	.	452;448	P26368;P26368-2	U2AF2_HUMAN;.	H	452;448	ENSP00000307863:R452H;ENSP00000388475:R448H	ENSP00000307863:R452H	R	+	2	0	U2AF2	60877173	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.751000	0.91628	2.173000	0.68751	0.478000	0.44815	CGC	U2AF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453598.1		+	ENST00000450554.2	Missense_Mutation	SNP	19 : 56185361 - 56185361 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	568	6
UBR3	130507	broad.mit.edu	37	2	170814986	170814986	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:170814986C>T	ENST00000272793.5	+	24	3634	c.3584C>T	c.(3583-3585)gCg>gTg	p.A1195V	UBR3_ENST00000418381.1_Missense_Mutation_p.A1195V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1195					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						AAATTGCTTGCGGAGTTTGCT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	111	108			NA	NA	2		NA											NA				170814986		2203	4300	6503	SO:0001583	missense			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357	130507	130507		Ubiquitin protein ligase E3 component n-recognins	30467	protein-coding gene	gene with protein product		613831	zinc finger protein 650	ZNF650	NA	17462990	Standard	NM_172070	NM_172070	NA	Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3584C>T	2.37:g.170814986C>T	ENSP00000272793:p.Ala1195Val	NA	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.812118|5.812118	0.96975|0.96975	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381|ENST00000392632	T;T|.	0.57595|.	0.39;0.39|.	6.15|6.15	6.15|6.15	0.99193|0.99193	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81842|0.81842	0.4908|0.4908	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.75484|.	0.986;0.986|.	T|T	0.79642|0.79642	-0.1718|-0.1718	10|5	0.59425|.	D|.	0.04|.	.|.	20.8387|20.8387	0.99724|0.99724	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1195;1195|.	Q6ZT12;E7EVK3|.	UBR3_HUMAN;.|.	V|W	1195|253	ENSP00000272793:A1195V;ENSP00000396068:A1195V|.	ENSP00000272793:A1195V|.	A|R	+|+	2|1	0|2	UBR3|UBR3	170523232|170523232	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	7.786000|7.786000	0.85741|0.85741	2.932000|2.932000	0.99384|0.99384	0.643000|0.643000	0.83706|0.83706	GCG|CGG	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000255290.2		+	ENST00000272793.5	Missense_Mutation	SNP	2 : 170814986 - 170814986 T PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	507	17
VN1R2	317701	broad.mit.edu	37	19	53762737	53762737	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:53762737G>A	ENST00000341702.3	+	1	1193	c.1109G>A	c.(1108-1110)cGt>cAt	p.R370H	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	370					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CTCATGTGCCGTGACCCCAGC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	159	151	154		1109	-0.6	0	19		154	0,8600		0,0,4300	no	missense	VN1R2	NM_173856.2	29	0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154	possibly-damaging	370/396	53762737	2,13004	2203	4300	6503	SO:0001583	missense			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131	317701	317701		Vomeronasal receptors / Type 1, GPCR / Unclassified : Vomeronasal receptors, type 1	19872	protein-coding gene	gene with protein product					NA	12123587	Standard	NM_173856	NM_173856	NA	Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.1109G>A	19.37:g.53762737G>A	ENSP00000351244:p.Arg370His	NA	A1L411|Q8TDU4	37	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	4.482	0.089310	0.08632	4.54E-4	0.0	ENSG00000196131	ENST00000341702	T	0.41065	1.01	2.94	-0.602	0.11634	.	.	.	.	.	T	0.22399	0.0540	L	0.27053	0.805	0.09310	N	1	B	0.31879	0.344	B	0.29862	0.108	T	0.23154	-1.0196	9	0.12430	T	0.62	.	5.3114	0.15833	0.451:0.0:0.549:0.0	.	370	Q8NFZ6	VN1R2_HUMAN	H	370	ENSP00000351244:R370H	ENSP00000351244:R370H	R	+	2	0	VN1R2	58454549	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.212000	0.09319	-0.020000	0.14032	-0.234000	0.12200	CGT	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464285.1		+	ENST00000341702.3	Missense_Mutation	SNP	19 : 53762737 - 53762737 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	666	6
WWTR1	25937	broad.mit.edu	37	3	149260145	149260145	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:149260145G>A	ENST00000465804.1	-	5	1004	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	WWTR1_ENST00000360632.3_Missense_Mutation_p.R250C|WWTR1_ENST00000467467.1_Missense_Mutation_p.R250C	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	250					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCCTCTTGGCGCATTCGAATC	0.552		NA	T	CAMTA1	epitheliod hemangioendothelioma								G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	2e-04	NA	NA	NA	4e-04	0.95	EXOME	NA	NA	3e-04	SNP			Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	0													126	109	115			NA	NA	3		NA											NA				149260145		2203	4300	6503	SO:0001583	missense			AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408	25937	25937			24042	protein-coding gene	gene with protein product		607392			NA	11118213, 15096513	Standard	NM_015472	NM_015472	NA	Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.748C>T	3.37:g.149260145G>A	ENSP00000419465:p.Arg250Cys	NA	D3DNH7|Q8N3P2|Q9Y3W6	37	CCDS3144.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	22.0	4.225035	0.79576	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417	T;T;T	0.55052	0.54;0.54;0.54	5.26	5.26	0.73747	.	0.229595	0.38381	N	0.001711	T	0.74496	0.3724	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.77302	-0.2638	10	0.87932	D	0	-28.3108	19.0748	0.93156	0.0:0.0:1.0:0.0	.	250	Q9GZV5	WWTR1_HUMAN	C	250;250;250;108	ENSP00000419465:R250C;ENSP00000353847:R250C;ENSP00000419234:R250C	ENSP00000353847:R250C	R	-	1	0	WWTR1	150742835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.272000	0.58908	2.733000	0.93635	0.655000	0.94253	CGC	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356498.1		-	ENST00000465804.1	Missense_Mutation	SNP	3 : 149260145 - 149260145 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	315	5
XRCC6	2547	broad.mit.edu	37	22	42018069	42018069	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr22:42018069G>A	ENST00000359308.4	+	1	716	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	XRCC6_ENST00000402580.3_Missense_Mutation_p.E21K|XRCC6_ENST00000405878.1_Missense_Mutation_p.E21K|XRCC6_ENST00000428575.2_5'UTR|XRCC6_ENST00000360079.3_Missense_Mutation_p.E21K|XRCC6_ENST00000405506.1_Silent_p.K8K			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	21	Asp/Glu-rich (acidic).|Ser-rich (potentially targets for phosphorylation).				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GGAAGAACAAGAAGAGAACCT	0.483		NA						Non-homologous end-joining						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													217	185	196			NA	NA	22		NA											NA				42018069		2203	4300	6503	SO:0001583	missense			J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419	2547	2547			4055	protein-coding gene	gene with protein product	Ku autoantigen, 70kDa	152690	thyroid autoantigen 70kD (Ku antigen), thyroid autoantigen 70kDa (Ku antigen)	G22P1	NA	9200330, 9223317	Standard	NM_001469	NM_001469	NA	Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.61G>A	22.37:g.42018069G>A	ENSP00000352257:p.Glu21Lys	NA	Q6FG89|Q9UCQ2|Q9UCQ3	37	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350682	0.82132	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000359308;ENST00000405878;ENST00000402409	.	.	.	5.36	4.33	0.51752	.	0.457363	0.21898	N	0.067499	T	0.58148	0.2102	M	0.61703	1.905	0.80722	D	1	B;B;B	0.16166	0.016;0.01;0.01	B;B;B	0.14578	0.011;0.007;0.007	T	0.53885	-0.8375	9	0.24483	T	0.36	-1.1576	13.523	0.61578	0.0:0.1562:0.8438:0.0	.	21;21;21	B1AHC7;B1AHC8;P12956	.;.;XRCC6_HUMAN	K	21	.	ENSP00000352257:E21K	E	+	1	0	XRCC6	40348015	0.996000	0.38824	0.051000	0.19133	0.208000	0.24298	2.401000	0.44513	1.229000	0.43630	0.655000	0.94253	GAA	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321688.1		+	ENST00000359308.4	Missense_Mutation	SNP	22 : 42018069 - 42018069 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	282	6
ZBTB26	57684	broad.mit.edu	37	9	125681305	125681305	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:125681305G>A	ENST00000373656.3	-	2	982	c.909C>T	c.(907-909)tgC>tgT	p.C303C	ZBTB26_ENST00000373654.1_Silent_p.C303C	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						AAGTCTTGCCGCAGAGTAGAC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	80	81			NA	NA	9		NA											NA				125681305		2203	4300	6503	SO:0001819	synonymous_variant			AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448	57684	57684		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	23383	protein-coding gene	gene with protein product			zinc finger protein 481	ZNF481	NA		Standard	NM_020924	NM_020924	NA	Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.909C>T	9.37:g.125681305G>A		NA	B3KQ53|Q8WTR1	37	CCDS6847.1																																																																																			ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053960.1		-	ENST00000373656.3	Silent	SNP	9 : 125681305 - 125681305 A PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	479	6
ZC3H3	23144	broad.mit.edu	37	8	144547942	144547942	+	Missense_Mutation	SNP	C	C	T	rs113716075	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr8:144547942C>T	ENST00000262577.5	-	9	2283	c.2252G>A	c.(2251-2253)cGc>cAc	p.R751H		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	751					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTCGGCCTTGCGGGACACGTA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	107	87	94		2252	2.7	1	8	dbSNP_132	94	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZC3H3	NM_015117.2	29	0,3,6500	TT,TC,CC	NA	0.0116,0.0454,0.0231	possibly-damaging	751/949	144547942	3,13003	2203	4300	6503	SO:0001583	missense			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164	23144	23144		Zinc fingers, CCCH-type domain containing	28972	protein-coding gene	gene with protein product			zinc finger CCCH-type domain containing 3	ZC3HDC3	NA	8590280	Standard	NM_015117	NM_015117	NA	Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2252G>A	8.37:g.144547942C>T	ENSP00000262577:p.Arg751His	NA	Q14163|Q8N4E2|Q9BUS4	37	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.915110	0.52546	4.54E-4	1.16E-4	ENSG00000014164	ENST00000262577	T	0.71341	-0.56	4.9	2.7	0.31948	Zinc finger, CCCH-type (2);	0.132811	0.49305	D	0.000156	T	0.53174	0.1780	L	0.31526	0.94	0.38805	D	0.955289	P	0.39520	0.676	B	0.32022	0.139	T	0.60637	-0.7224	10	0.72032	D	0.01	-20.5515	10.588	0.45294	0.1341:0.7844:0.0:0.0815	.	751	Q8IXZ2	ZC3H3_HUMAN	H	751	ENSP00000262577:R751H	ENSP00000262577:R751H	R	-	2	0	ZC3H3	144619085	1.000000	0.71417	0.993000	0.49108	0.843000	0.47879	3.695000	0.54749	1.057000	0.40506	0.561000	0.74099	CGC	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382011.2		-	ENST00000262577.5	Missense_Mutation	SNP	8 : 144547942 - 144547942 T PAAD-TCGA-Q3-A5QY-Tumor-SM-4WPAF	333	5
