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
ANAPC7	51434	broad.mit.edu	37	12	110815272	110815272	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:110815272T>C	ENST00000455511.3	-	9	1385	c.1385A>G	c.(1384-1386)aAa>aGa	p.K462R	ANAPC7_ENST00000481473.1_5'UTR|ANAPC7_ENST00000450008.2_Missense_Mutation_p.K462R	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	462					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						TAATAATGTTTTGGCTTTCTC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													251	213	226			NA	NA	12		NA											NA				110815272		2203	4300	6503	SO:0001583	missense			AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510	51434	51434		Anaphase promoting complex subunits, Tetratricopeptide (TTC) repeat domain containing	17380	protein-coding gene	gene with protein product		606949			NA		Standard	NM_016238	NM_016238	NA	Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.1385A>G	12.37:g.110815272T>C	ENSP00000394394:p.Lys462Arg	NA	Q96AC4|Q96GF4|Q9BU24|Q9NT16	37	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634913	0.87760	.	.	ENSG00000196510	ENST00000455511;ENST00000481473;ENST00000486321;ENST00000450008;ENST00000471602	T;T	0.78126	-1.15;0.67	5.79	5.79	0.91817	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.80752	0.4683	L	0.37800	1.135	0.58432	D	0.999998	D;P	0.56035	0.974;0.671	D;B	0.70487	0.969;0.202	T	0.75121	-0.3429	10	0.07482	T	0.82	-10.9948	16.1303	0.81428	0.0:0.0:0.0:1.0	.	462;462	Q9UJX3-2;Q9UJX3	.;APC7_HUMAN	R	462;36;60;462;155	ENSP00000394394:K462R;ENSP00000402314:K462R	ENSP00000402314:K462R	K	-	2	0	ANAPC7	109299655	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.698000	0.84413	2.218000	0.71995	0.533000	0.62120	AAA	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347075.3		-	ENST00000455511.3	Missense_Mutation	SNP	12 : 110815272 - 110815272 C PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	850	173
ANGEL2	90806	broad.mit.edu	37	1	213178773	213178773	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:213178773G>A	ENST00000366962.3	-	5	890	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77W|ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120W	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	246										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CTTCCTGTCCGCATCTTATAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	99	97			NA	NA	1		NA											NA				213178773		2189	4299	6488	SO:0001583	missense			AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606	90806	90806			30534	protein-coding gene	gene with protein product					NA	11943475	Standard	NM_144567	XM_005273344	NA	Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.736C>T	1.37:g.213178773G>A	ENSP00000355929:p.Arg246Trp	NA	B7Z2U4|D3DTA3|Q86X13|Q8NHH3	37	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682310	0.68042	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388	D;D;D;D;D	0.95724	-3.79;-3.6;-3.6;-3.79;-3.6	5.45	2.42	0.29668	Endonuclease/exonuclease/phosphatase (2);	0.060391	0.64402	D	0.000003	D	0.97798	0.9277	M	0.93420	3.415	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96627	0.9464	10	0.59425	D	0.04	-10.8417	8.9311	0.35670	0.072:0.0:0.4718:0.4562	.	120;246	F5H476;Q5VTE6	.;ANGE2_HUMAN	W	246;77;77;120;77	ENSP00000355929:R246W;ENSP00000353696:R77W;ENSP00000443193:R77W;ENSP00000446124:R120W;ENSP00000438141:R77W	ENSP00000353696:R77W	R	-	1	2	ANGEL2	211245396	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.237000	0.32695	0.297000	0.22615	0.650000	0.86243	CGG	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089693.1		-	ENST00000366962.3	Missense_Mutation	SNP	1 : 213178773 - 213178773 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	537	6
ATM	472	broad.mit.edu	37	11	108117798	108117798	+	Missense_Mutation	SNP	C	C	T	rs138398778		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:108117798C>T	ENST00000452508.2	+	9	1198	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	ATM_ENST00000278616.4_Missense_Mutation_p.R337C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.R337C(3)|p.R337S(2)|p.F336_A340del(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTCAGGATTTCGTAATATTGC	0.323		NA	D, Mis, N, F, S		T-PLL	leukemia, lymphoma, medulloblastoma, glioma		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		L, O	6	Substitution - Missense(5)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)						C	CYS/ARG	0,4402		0,0,2201	60	61	61		1009	5.7	1	11	dbSNP_134	61	1,8595	1.2+/-3.3	0,1,4297	yes	missense	ATM	NM_000051.3	180	0,1,6498	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	337/3057	108117798	1,12997	2201	4298	6499	SO:0001583	missense	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311	472	472			795	protein-coding gene	gene with protein product	TEL1, telomere maintenance 1, homolog (S. cerevisiae)	607585	ataxia telangiectasia mutated (includes complementation groups A, C and D), ataxia telangiectasia mutated	ATA, ATDC, ATC, ATD	NA		Standard	NM_000051	XM_005271561	NA	Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1009C>T	11.37:g.108117798C>T	ENSP00000388058:p.Arg337Cys	NA	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568847	0.86439	0.0	1.16E-4	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.02369	4.32;4.62;4.62	5.72	5.72	0.89469	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.00022	-1.2342	10	0.87932	D	0	.	19.8868	0.96915	0.0:1.0:0.0:0.0	.	337	Q13315	ATM_HUMAN	C	337	ENSP00000435747:R337C;ENSP00000278616:R337C;ENSP00000388058:R337C	ENSP00000278616:R337C	R	+	1	0	ATM	107623008	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.213000	0.58520	2.709000	0.92574	0.655000	0.94253	CGT	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389938.1		+	ENST00000452508.2	Missense_Mutation	SNP	11 : 108117798 - 108117798 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	381	64
AVPR1A	552	broad.mit.edu	37	12	63543857	63543857	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:63543857G>A	ENST00000299178.2	-	1	865	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	254					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.R254C(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTGCTCTGGCGCGACGCCGTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	prostate(1)											96	96	96			NA	NA	12		NA											NA				63543857		2203	4300	6503	SO:0001583	missense			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148	NA	552		GPCR / Class A : Vasopressin and oxytocin receptors	895	protein-coding gene	gene with protein product		600821		AVPR1	NA	8106369	Standard		NM_000706	NA	Approved		uc001sro.2	P37288		ENST00000299178.2:c.760C>T	12.37:g.63543857G>A	ENSP00000299178:p.Arg254Cys	NA		37	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921813	0.33908	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.73469	-0.75;-0.75	5.29	1.6	0.23607	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	N	0.001512	T	0.59115	0.2170	L	0.39514	1.22	0.21220	N	0.999759	B	0.19817	0.039	B	0.21546	0.035	T	0.40270	-0.9572	9	.	.	.	-13.3074	5.8336	0.18594	0.1974:0.3561:0.4465:0.0	.	254	P37288	V1AR_HUMAN	C	35;254	ENSP00000449822:R35C;ENSP00000299178:R254C	.	R	-	1	0	AVPR1A	61830124	0.001000	0.12720	0.135000	0.22099	0.903000	0.53119	0.341000	0.19909	1.224000	0.43551	0.455000	0.32223	CGC	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406734.1		-	ENST00000299178.2	Missense_Mutation	SNP	12 : 63543857 - 63543857 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	847	167
BAALC	79870	broad.mit.edu	37	8	104225200	104225200	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr8:104225200G>A	ENST00000309982.5	+	2	402	c.214G>A	c.(214-216)Ggt>Agt	p.G72S	RP11-318M2.2_ENST00000499522.2_RNA|RP11-318M2.2_ENST00000523614.2_RNA|BAALC_ENST00000297574.6_Missense_Mutation_p.G107S|BAALC_ENST00000438105.2_Intron	NM_024812.2	NP_079088.1	Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	107						centrosome|membrane|nucleus				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TACAGCCCCAGGTGGAATACC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	122	127			NA	NA	8		NA											NA				104225200		2203	4300	6503	SO:0001583	missense			AF363578	CCDS6297.1, CCDS47906.1	8q22.3	2008-07-29			ENSG00000164929	ENSG00000164929	79870	79870			14333	protein-coding gene	gene with protein product		606602			NA	11707601	Standard		NM_024812	NA	Approved		uc003yld.3	Q8WXS3	OTTHUMG00000164782	ENST00000309982.5:c.214G>A	8.37:g.104225200G>A	ENSP00000312457:p.Gly72Ser	NA	Q8WTP6|Q8WXS0|Q8WXS1|Q8WXS2|Q9HA93	37	CCDS6297.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927804	0.34002	.	.	ENSG00000164929	ENST00000309982;ENST00000297574	T;T	0.53206	1.02;0.63	5.47	1.85	0.25348	.	0.578794	0.17232	N	0.181915	T	0.30070	0.0753	.	.	.	0.80722	D	1	B;B	0.18741	0.03;0.005	B;B	0.17722	0.014;0.019	T	0.05971	-1.0853	9	0.26408	T	0.33	-6.8436	5.7463	0.18122	0.4639:0.0:0.5361:0.0	.	107;72	Q8WXS3;Q8WXS3-2	BAALC_HUMAN;.	S	72;107	ENSP00000312457:G72S;ENSP00000297574:G107S	ENSP00000297574:G107S	G	+	1	0	BAALC	104294376	0.137000	0.22531	0.196000	0.23383	0.544000	0.35116	0.274000	0.18680	0.631000	0.30412	0.650000	0.86243	GGT	BAALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380255.1		+	ENST00000309982.5	Missense_Mutation	SNP	8 : 104225200 - 104225200 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	532	97
BACH1	571	broad.mit.edu	37	21	30693720	30693720	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr21:30693720T>C	ENST00000399921.1	+	2	362	c.119T>C	c.(118-120)gTg>gCg	p.V40A	BACH1_ENST00000286800.3_Missense_Mutation_p.V40A	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	40	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						ACCATCTTTGTGGAGGGACAG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	122	132			NA	NA	21		NA											NA				30693720		2203	4300	6503	SO:0001583	missense			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273	571	571		BTB/POZ domain containing, basic leucine zipper proteins	935	protein-coding gene	gene with protein product		602751			NA	9544839, 9479503	Standard	NM_206866	NR_027655	NA	Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.119T>C	21.37:g.30693720T>C	ENSP00000382805:p.Val40Ala	NA	O43285	37	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.270251	0.80469	.	.	ENSG00000156273	ENST00000286800;ENST00000399921;ENST00000451655;ENST00000447177;ENST00000435072	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.4	5.4	0.78164	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000003	T	0.49830	0.1580	L	0.50993	1.605	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.41413	-0.9510	9	.	.	.	-19.2783	15.7695	0.78157	0.0:0.0:0.0:1.0	.	40	O14867	BACH1_HUMAN	A	40	ENSP00000286800:V40A;ENSP00000382805:V40A;ENSP00000400576:V40A;ENSP00000408605:V40A;ENSP00000392202:V40A	.	V	+	2	0	BACH1	29615591	1.000000	0.71417	0.996000	0.52242	0.569000	0.35902	5.701000	0.68325	2.183000	0.69458	0.451000	0.29950	GTG	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000171974.1		+	ENST00000399921.1	Missense_Mutation	SNP	21 : 30693720 - 30693720 C PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	541	123
BAHD1	22893	broad.mit.edu	37	15	40756141	40756141	+	Missense_Mutation	SNP	C	C	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr15:40756141C>G	ENST00000561234.1	+	4	2153	c.1894C>G	c.(1894-1896)Ctt>Gtt	p.L632V	BAHD1_ENST00000560846.1_Missense_Mutation_p.L633V|BAHD1_ENST00000416165.1_Missense_Mutation_p.L633V			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	633	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GGACACCGTCCTTCTCAAATC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	94	98			NA	NA	15		NA											NA				40756141		2203	4300	6503	SO:0001583	missense			AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320	22893	22893			29153	protein-coding gene	gene with protein product		613880			NA	10231032	Standard	NM_014952	XM_005254229	NA	Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000561234.1:c.1894C>G	15.37:g.40756141C>G	ENSP00000454150:p.Leu632Val	NA	Q8NDF7|Q9Y2F4	37		.	.	.	.	.	.	.	.	.	.	C	27.9	4.871132	0.91587	.	.	ENSG00000140320	ENST00000416165	D	0.86865	-2.18	5.28	5.28	0.74379	Bromo adjacent homology (BAH) domain (3);	0.068049	0.64402	D	0.000012	D	0.92018	0.7471	L	0.55103	1.725	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.959;0.998;0.997	D	0.90870	0.4745	10	0.41790	T	0.15	-24.8954	19.0957	0.93249	0.0:1.0:0.0:0.0	.	633;633;632	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	V	633	ENSP00000396976:L633V	ENSP00000396976:L633V	L	+	1	0	BAHD1	38543433	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.606000	0.67641	2.755000	0.94549	0.655000	0.94253	CTT	BAHD1-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000418756.1		+	ENST00000561234.1	Missense_Mutation	SNP	15 : 40756141 - 40756141 G PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	195	48
BOD1L1	259282	broad.mit.edu	37	4	13601941	13601941	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr4:13601941G>A	ENST00000040738.5	-	10	6718	c.6583C>T	c.(6583-6585)Ccc>Tcc	p.P2195S		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2195							DNA binding				NA						GGCGCACTGGGCATAGGCCCC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	63	66			NA	NA	4		NA											NA				13601941		2203	4300	6503	SO:0001583	missense			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219	259282	259282			31792	protein-coding gene	gene with protein product			family with sequence similarity 44, member A, biorientation of chromosomes in cell division 1-like	FAM44A, BOD1L	NA		Standard	NM_148894	XM_005248150	NA	Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6583C>T	4.37:g.13601941G>A	ENSP00000040738:p.Pro2195Ser	NA	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304318	0.23736	.	.	ENSG00000038219	ENST00000040738	T	0.06608	3.28	5.33	4.36	0.52297	.	0.124052	0.37012	N	0.002292	T	0.03651	0.0104	N	0.17723	0.515	0.36919	D	0.891272	P	0.38473	0.633	B	0.29862	0.108	T	0.50898	-0.8773	10	0.33940	T	0.23	-3.7133	9.1929	0.37211	0.1365:0.0:0.8635:0.0	.	2195	Q8NFC6	BOD1L_HUMAN	S	2195	ENSP00000040738:P2195S	ENSP00000040738:P2195S	P	-	1	0	BOD1L	13211039	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	2.490000	0.45294	2.504000	0.84457	0.555000	0.69702	CCC	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207321.1		-	ENST00000040738.5	Missense_Mutation	SNP	4 : 13601941 - 13601941 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	228	4
C17orf53	78995	broad.mit.edu	37	17	42225373	42225373	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:42225373C>T	ENST00000585683.1	+	3	437	c.202C>T	c.(202-204)Ccc>Tcc	p.P68S	C17orf53_ENST00000245382.6_Missense_Mutation_p.P68S|C17orf53_ENST00000319977.4_Missense_Mutation_p.P68S			Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	68										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCCCACTGCTCCCTCAGAGGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	71	76			NA	NA	17		NA											NA				42225373		2203	4300	6503	SO:0001583	missense			AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319	78995	78995			28460	protein-coding gene	gene with protein product					NA		Standard	NM_024032	NM_001171251	NA	Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000585683.1:c.202C>T	17.37:g.42225373C>T	ENSP00000466618:p.Pro68Ser	NA	Q9BWM9|Q9HAI1	37	CCDS59293.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604612	0.28623	.	.	ENSG00000125319	ENST00000319977;ENST00000245382;ENST00000253405	T;T	0.49139	0.79;0.79	5.28	2.2	0.27929	.	0.378727	0.22038	N	0.065500	T	0.38558	0.1045	L	0.55481	1.735	0.09310	N	1	B;B;B	0.29646	0.084;0.253;0.084	B;B;B	0.29663	0.022;0.105;0.022	T	0.30297	-0.9983	10	0.51188	T	0.08	-0.8579	6.2724	0.20961	0.0:0.6818:0.1524:0.1659	.	68;68;68	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	S	68	ENSP00000313500:P68S;ENSP00000245382:P68S	ENSP00000245382:P68S	P	+	1	0	C17orf53	39580899	0.001000	0.12720	0.001000	0.08648	0.044000	0.14063	0.181000	0.16880	0.362000	0.24319	0.561000	0.74099	CCC	C17orf53-001	NOVEL	NAGNAG_splice_site|basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457698.1		+	ENST00000585683.1	Missense_Mutation	SNP	17 : 42225373 - 42225373 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	466	96
C9orf3	84909	broad.mit.edu	37	9	97843044	97843044	+	Missense_Mutation	SNP	G	G	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr9:97843044G>T	ENST00000297979.5	+	13	2179	c.2004G>T	c.(2002-2004)agG>agT	p.R668S	C9orf3_ENST00000425634.2_Missense_Mutation_p.R129S|C9orf3_ENST00000433691.2_Missense_Mutation_p.R108S|C9orf3_ENST00000375315.2_Missense_Mutation_p.R767S	NM_032823.5	NP_116212.3	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	767					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GTGTGGAGAGGTTCCTTCAGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	138	145			NA	NA	9		NA											NA				97843044		2203	4300	6503	SO:0001583	missense			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120	84909	84909			1361	protein-coding gene	gene with protein product	aminopeptidase O				NA	15687497	Standard	NM_032823	NM_001193329	NA	Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000297979.5:c.2004G>T	9.37:g.97843044G>T	ENSP00000297979:p.Arg668Ser	NA	Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	37	CCDS6713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.86|12.86	2.063994|2.063994	0.36373|0.36373	.|.	.|.	ENSG00000148120|ENSG00000148120	ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000425634;ENST00000433691;ENST00000375314|ENST00000445181	T;T;T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0;1.0;1.0|.	5.57|5.57	-11.1|-11.1	0.00147|0.00147	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);|.	0.730929|.	0.12958|.	N|.	0.425271|.	T|T	0.34308|0.34308	0.0893|0.0893	L|L	0.57536|0.57536	1.79|1.79	0.22156|0.22156	N|N	0.999328|0.999328	P;P;B;B;B|.	0.48834|.	0.845;0.916;0.095;0.418;0.306|.	P;P;B;B;B|.	0.51657|.	0.676;0.515;0.053;0.085;0.169|.	T|T	0.36939|0.36939	-0.9727|-0.9727	10|5	0.11485|.	T|.	0.65|.	0.0602|0.0602	6.0437|6.0437	0.19748|0.19748	0.1409:0.4072:0.3673:0.0845|0.1409:0.4072:0.3673:0.0845	.|.	108;129;767;668;668|.	B4DU39;B4DQU3;Q8N6M6;Q8N6M6-4;Q8N6M6-2|.	.;.;AMPO_HUMAN;.;.|.	S|F	668;767;491;549;129;108;131|132	ENSP00000297979:R668S;ENSP00000364464:R767S;ENSP00000402171:R491S;ENSP00000401854:R549S;ENSP00000411815:R129S;ENSP00000399365:R108S|.	ENSP00000297979:R668S|.	R|V	+|+	3|1	2|0	C9orf3|C9orf3	96882865|96882865	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.090000|0.090000	0.18270|0.18270	-1.167000|-1.167000	0.03126|0.03126	-1.392000|-1.392000	0.02082|0.02082	-0.378000|-0.378000	0.06908|0.06908	AGG|GTT	C9orf3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053197.1		+	ENST00000297979.5	Missense_Mutation	SNP	9 : 97843044 - 97843044 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	332	48
CACNA1B	774	broad.mit.edu	37	9	141014657	141014657	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr9:141014657C>T	ENST00000371372.1	+	45	6216	c.6071C>T	c.(6070-6072)aCg>aTg	p.T2024M	CACNA1B_ENST00000371363.1_Missense_Mutation_p.T2022M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.T2025M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.T2023M|CACNA1B_ENST00000277549.5_Missense_Mutation_p.T1218M|CACNA1B_ENST00000277551.2_Missense_Mutation_p.T2024M	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2024					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCCATCTCCACGCTGGCCCAG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	61	53			NA	NA	9		NA											NA				141014657		2170	4264	6434	SO:0001583	missense			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408	774	774		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1389	protein-coding gene	gene with protein product		601012		CACNL1A5	NA	8825650, 16382099	Standard	NM_000718	NM_000718	NA	Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6071C>T	9.37:g.141014657C>T	ENSP00000360423:p.Thr2024Met	NA	B1AQK5	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339170	0.81911	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	4.78	4.78	0.61160	.	0.330500	0.29767	N	0.011255	T	0.73961	0.3654	L	0.49126	1.545	0.80722	D	1	P;P	0.48162	0.906;0.906	P;P	0.45276	0.475;0.475	T	0.77411	-0.2598	10	0.52906	T	0.07	.	17.8144	0.88627	0.0:1.0:0.0:0.0	.	2023;2022	B1AQK7;B1AQK6	.;.	M	2024;2024;1218;2022;2023;2025	ENSP00000360423:T2024M;ENSP00000277551:T2024M;ENSP00000277549:T1218M;ENSP00000360414:T2022M;ENSP00000360408:T2023M;ENSP00000360406:T2025M	ENSP00000277549:T1218M	T	+	2	0	CACNA1B	140134478	0.997000	0.39634	0.976000	0.42696	0.747000	0.42532	3.527000	0.53517	2.210000	0.71456	0.491000	0.48974	ACG	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055380.1		+	ENST00000371372.1	Missense_Mutation	SNP	9 : 141014657 - 141014657 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	87	28
CDC20B	166979	broad.mit.edu	37	5	54423083	54423083	+	Splice_Site	DEL	A	A	-			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr5:54423083delA	ENST00000296733.1	-	8	1164		c.e8+1		CDC20B_ENST00000322374.6_Splice_Site|CDC20B_ENST00000381375.2_Splice_Site|CDC20B_ENST00000334206.5_Splice_Site	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	NA										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GACGCTTCTTACCTGCTGAGG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	104	103			NA	NA	5		NA											NA				54423083		2203	4300	6503	SO:0001630	splice_region_variant			AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287	166979	166979		WD repeat domain containing	24222	protein-coding gene	gene with protein product			CDC20 cell division cycle 20 homolog B (S. cerevisiae), cell division cycle 20 homolog B (S. cerevisiae)		NA		Standard	NM_152623	NM_152623	NA	Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000296733.1:c.989+1T>-	5.37:g.54423083delA		NA	B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	37	CCDS3966.1																																																																																			CDC20B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253908.2	Intron	-	ENST00000296733.1	Splice_Site	DEL	5 : 54423083 - 54423083 - PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	707	141
CDC73	79577	broad.mit.edu	37	1	193172923	193172949	+	Splice_Site	DEL	AGGAGGGTGCATCTGCCCGGAAGACTC	AGGAGGGTGCATCTGCCCGGAAGACTC	-	rs149875598		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	AGGAGGGTGCATCTGCCCGGAAGACTC	AGGAGGGTGCATCTGCCCGGAAGACTC	-	-	AGGAGGGTGCATCTGCCCGGAAGACTC	AGGAGGGTGCATCTGCCCGGAAGACTC	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:193172923_193172949delAGGAGGGTGCATCTGCCCGGAAGACTC	ENST00000367435.3	+	11	1156_1181	c.972_997delAGGAGGGTGCATCTGCCCGGAAGACTC	c.(970-999)acaggagggtgcatctgcccggaagactca>acca	p.GGCICPEDS325del		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	325					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.R330L(1)|p.R330R(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						ATTCTTTTAAAGGAGGGTGCATCTGCCCGGAAGACTCAGACTCCTGC	0.352		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001630	splice_region_variant			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371	79577	79577			16783	protein-coding gene	gene with protein product	Paf1/RNA polymerase II complex component	607393	chromosome 1 open reading frame 28, hyperparathyroidism 2 (with jaw tumor), cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae), hyperparathyroidism 1	C1orf28, HRPT2, HRPT1	NA	11318611, 15632063, 18755853	Standard	NM_024529	NM_024529	NA	Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.973-1AGGAGGGTGCATCTGCCCGGAAGACTC>-	1.37:g.193172923_193172949delAGGAGGGTGCATCTGCCCGGAAGACTC		NA	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	37	CCDS1382.1																																																																																			CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086696.2	In_Frame_Del	+	ENST00000367435.3	Splice_Site	DEL	1 : 193172923 - 193172949 - PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	214	9
CDC73	79577	broad.mit.edu	37	1	193111023	193111023	+	Missense_Mutation	SNP	A	A	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:193111023A>G	ENST00000367435.3	+	7	740	c.556A>G	c.(556-558)Aaa>Gaa	p.K186E		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	186				AIKA -> CNQT (in Ref. 2; BAB15608).	cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TGCTGCAATCAAAGCCAAAAT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	49	51			NA	NA	1		NA											NA				193111023		2203	4300	6503	SO:0001583	missense			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371	79577	79577			16783	protein-coding gene	gene with protein product	Paf1/RNA polymerase II complex component	607393	chromosome 1 open reading frame 28, hyperparathyroidism 2 (with jaw tumor), cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae), hyperparathyroidism 1	C1orf28, HRPT2, HRPT1	NA	11318611, 15632063, 18755853	Standard	NM_024529	NM_024529	NA	Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.556A>G	1.37:g.193111023A>G	ENSP00000356405:p.Lys186Glu	NA	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	37	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.913112	0.92178	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.89617	-2.54	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.94009	0.8081	M	0.78916	2.43	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	D	0.94174	0.7426	10	0.56958	D	0.05	-23.6629	16.5582	0.84512	1.0:0.0:0.0:0.0	.	186	Q6P1J9	CDC73_HUMAN	E	186	ENSP00000356405:K186E	ENSP00000356405:K186E	K	+	1	0	CDC73	191377646	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.109000	0.94291	2.308000	0.77769	0.533000	0.62120	AAA	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086696.2		+	ENST00000367435.3	Missense_Mutation	SNP	1 : 193111023 - 193111023 G PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	274	40
CEP112	201134	broad.mit.edu	37	17	64173012	64173012	+	Missense_Mutation	SNP	G	G	A	rs150126064	byFrequency	TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:64173012G>A	ENST00000392769.2	-	3	451	c.233C>T	c.(232-234)gCg>gTg	p.A78V	CEP112_ENST00000535342.2_Missense_Mutation_p.A78V|CEP112_ENST00000537949.1_Missense_Mutation_p.A78V	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	78						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GCCTTCAAGCGCACCTCGTTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	135	117	123		233,233	-0.9	0	17	dbSNP_134	123	4,8596	3.0+/-9.4	0,4,4296	yes	missense,missense	CEP112	NM_001199165.1,NM_145036.3	64,64	0,4,6499	AA,AG,GG	NA	0.0465,0.0,0.0308	benign,benign	78/956,78/956	64173012	4,13002	2203	4300	6503	SO:0001583	missense			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240	201134	201134			28514	protein-coding gene	gene with protein product			coiled-coil domain containing 46	CCDC46	NA	21399614	Standard	NM_145036	NM_145036	NA	Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.233C>T	17.37:g.64173012G>A	ENSP00000376522:p.Ala78Val	NA	Q6PIB5|Q8NCR4|Q8NFR4	37	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	G	2.245	-0.372938	0.05034	0.0	4.65E-4	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000537949	T;T;T	0.38401	1.16;1.16;1.14	5.33	-0.924	0.10462	.	0.817271	0.10515	N	0.665636	T	0.06416	0.0165	N	0.00368	-1.59	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28870	-1.0030	10	0.02654	T	1	-0.3383	2.0237	0.03514	0.492:0.1211:0.27:0.1168	.	78;78	F5GYE8;Q8N8E3	.;CE112_HUMAN	V	78	ENSP00000442784:A78V;ENSP00000376522:A78V;ENSP00000440775:A78V	ENSP00000376522:A78V	A	-	2	0	CEP112	61603474	0.029000	0.19370	0.000000	0.03702	0.879000	0.50718	3.088000	0.50175	-0.549000	0.06191	-0.295000	0.09555	GCG	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446582.1		-	ENST00000392769.2	Missense_Mutation	SNP	17 : 64173012 - 64173012 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	506	7
CFHR2	3080	broad.mit.edu	37	1	196918732	196918732	+	Missense_Mutation	SNP	G	G	A	rs144596551	byFrequency	TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:196918732G>A	ENST00000367415.5	+	2	306	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CFHR2_ENST00000496448.1_Intron|CFHR2_ENST00000367421.3_Missense_Mutation_p.R69H|CFHR2_ENST00000476712.2_Missense_Mutation_p.R69H	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	NA	Sushi 1.					extracellular region		p.R69H(1)		large_intestine(2)|ovary(1)|skin(3)	6						TTTTGGACTCGCATAACGTGC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)											97	87	90			NA	NA	1		NA											NA				196918732		2203	4300	6503	SO:0001583	missense			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910	3080	3080		Complement system	4890	protein-coding gene	gene with protein product		600889	H factor (complement)-like 3	HFL3, CFHL2	NA	1533657, 7672821	Standard	NM_005666	NM_005666	NA	Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.206G>A	1.37:g.196918732G>A	ENSP00000356385:p.Arg69His	NA	Q14310|Q5T9T1	37	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	11.75	1.733228	0.30684	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.64803	-0.12;-0.12	3.15	-6.29	0.02013	Complement control module (2);Sushi/SCR/CCP (2);	1.243780	0.06385	N	0.715952	T	0.63873	0.2548	L	0.44542	1.39	0.09310	N	1	D	0.89917	1.0	D	0.66847	0.947	T	0.61540	-0.7042	10	0.42905	T	0.14	.	5.3275	0.15915	0.3221:0.4369:0.241:0.0	.	69	P36980	FHR2_HUMAN	H	69	ENSP00000356391:R69H;ENSP00000356385:R69H	ENSP00000356385:R69H	R	+	2	0	CFHR2	195185355	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.088000	0.00610	-1.636000	0.01533	-0.357000	0.07601	CGC	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088815.2		+	ENST00000367415.5	Missense_Mutation	SNP	1 : 196918732 - 196918732 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	545	6
CGB2	114336	broad.mit.edu	37	19	49535356	49535356	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:49535356T>C	ENST00000359342.6	+	1	122	c.4T>C	c.(4-6)Tca>Cca	p.S2P	CTB-60B18.6_ENST00000591656.1_Intron	NM_033378.1	NP_203696.2			chorionic gonadotropin, beta polypeptide 2	NA								p.S2P(1)		large_intestine(1)|lung(1)|stomach(1)	3		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GAGAGACATGTCAAAGGTAGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											200	167	178			NA	NA	19		NA											NA				49535356		2203	4300	6503	SO:0001583	missense			K03184	CCDS12750.2	19q13.32	2008-02-05			ENSG00000104818	ENSG00000104818	114336	114336			16722	protein-coding gene	gene with protein product		608824			NA	6194155	Standard	NM_033378	NM_033378	NA	Approved		uc002plw.3	Q6NT52	OTTHUMG00000150185	ENST00000359342.6:c.4T>C	19.37:g.49535356T>C	ENSP00000352295:p.Ser2Pro	NA		37	CCDS12750.2	.	.	.	.	.	.	.	.	.	.	t	8.484	0.860516	0.17178	.	.	ENSG00000104818	ENST00000538959;ENST00000359342	T	0.39406	1.08	0.584	-0.679	0.11350	.	1.065520	0.07276	U	0.869916	T	0.33411	0.0862	N	0.08118	0	0.09310	N	1	P	0.51449	0.945	P	0.57425	0.82	T	0.26883	-1.0090	9	0.30854	T	0.27	.	.	.	.	.	20	P01233-2	.	P	2	ENSP00000352295:S2P	ENSP00000352295:S2P	S	+	1	0	CGB2	54227168	0.002000	0.14202	0.411000	0.26484	0.130000	0.20726	-0.463000	0.06696	-0.224000	0.09928	0.076000	0.15429	TCA	CGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316745.1		+	ENST00000359342.6	Missense_Mutation	SNP	19 : 49535356 - 49535356 C PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	438	6
CHL1	10752	broad.mit.edu	37	3	439920	439920	+	Silent	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:439920C>T	ENST00000256509.2	+	25	3747	c.3105C>T	c.(3103-3105)atC>atT	p.I1035I	CHL1_ENST00000397491.2_Silent_p.I1019I	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1019					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.I1035I(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GTAAAGGTATCGGGAAGATAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)						C		1,4405	2.1+/-5.4	0,1,2202	59	58	58		3105	4.8	1	3		58	0,8600		0,0,4300	no	coding-synonymous	CHL1	NM_006614.2		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		1035/1225	439920	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121	10752	10752		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	1939	protein-coding gene	gene with protein product	neural cell adhesion molecule, close homolog of L1	607416	cell adhesion molecule with homology to L1CAM (close homologue of L1), cell adhesion molecule with homology to L1CAM (close homolog of L1)		NA	9799093	Standard	NM_006614	NM_006614	NA	Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3105C>T	3.37:g.439920C>T		NA	B7ZL03|Q2M3G2|Q59FY0	37	CCDS2556.1																																																																																			CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207155.2		+	ENST00000256509.2	Silent	SNP	3 : 439920 - 439920 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	222	38
CHMP1A	5119	broad.mit.edu	37	16	89718035	89718035	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:89718035T>C	ENST00000550102.1	-	3	108	c.47A>G	c.(46-48)gAg>gGg	p.E16G	CHMP1A_ENST00000253475.5_Silent_p.G9G|CHMP1A_ENST00000397901.3_Missense_Mutation_p.E16G|CHMP1A_ENST00000535997.2_5'UTR|CHMP1A_ENST00000547614.1_5'UTR			Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	16					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GGCCAGCTTCTCCAGCTGCTT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	69	67			NA	NA	16		NA											NA				89718035		2024	4179	6203	SO:0001583	missense			U58048	CCDS45552.1	16q24.3	2011-09-21	2011-09-21	2007-03-20	ENSG00000131165	ENSG00000131165	5119	5119		Charged multivesicular body proteins	8740	protein-coding gene	gene with protein product		164010	procollagen (type III) N-endopeptidase, chromatin modifying protein 1A	PRSM1, PCOLN3	NA	11559748, 11559747	Standard	NM_002768	NM_002768	NA	Approved	KIAA0047, CHMP1, Vps46A	uc002fnu.4	Q9HD42	OTTHUMG00000169521	ENST00000550102.1:c.47A>G	16.37:g.89718035T>C	ENSP00000449243:p.Glu16Gly	NA	A2RU09|Q14468|Q15779|Q96G31	37		.	.	.	.	.	.	.	.	.	.	T	18.38	3.611348	0.66558	.	.	ENSG00000131165	ENST00000397901;ENST00000550102	T;T	0.74106	-0.81;-0.81	4.81	4.81	0.61882	.	.	.	.	.	T	0.70202	0.3197	.	.	.	0.80722	D	1	P	0.38300	0.626	B	0.40782	0.34	T	0.69101	-0.5234	7	.	.	.	-1.7391	14.6528	0.68811	0.0:0.0:0.0:1.0	.	16	Q9HD42	CHM1A_HUMAN	G	16	ENSP00000380998:E16G;ENSP00000449243:E16G	.	E	-	2	0	CHMP1A	88245536	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.600000	0.82769	1.905000	0.55150	0.533000	0.62120	GAG	CHMP1A-011	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404586.1		-	ENST00000550102.1	Missense_Mutation	SNP	16 : 89718035 - 89718035 C PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	155	4
COASY	80347	broad.mit.edu	37	17	40714982	40714982	+	Translation_Start_Site	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:40714982G>A	ENST00000393818.2	+	1	798	c.342G>A	c.(340-342)gtG>gtA	p.V114V	COASY_ENST00000420359.1_Silent_p.V114V|COASY_ENST00000590958.1_Silent_p.V143V|COASY_ENST00000449624.1_De_novo_Start_InFrame|COASY_ENST00000421097.2_Silent_p.V114V	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	114					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CAGAAGTCGTGTTGACAGATT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	156	157			NA	NA	17		NA											NA				40714982		2203	4300	6503	SO:0001819	synonymous_variant			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	80347	80347	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	Coenzyme A synthase		NA	11923312, 11980892	Standard	NM_025233	NM_025233	NA	Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.342G>A	17.37:g.40714982G>A		NA	B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	37	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491978	0.26774	.	.	ENSG00000068120	ENST00000426807	.	.	.	5.57	-0.966	0.10320	.	0.000000	0.85682	D	0.000000	T	0.53126	0.1777	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51220	-0.8733	6	0.87932	D	0	-22.1199	1.666	0.02802	0.1574:0.2286:0.3692:0.2448	.	.	.	.	I	90	.	ENSP00000390306:V90I	V	+	1	0	COASY	37968508	0.995000	0.38212	0.998000	0.56505	0.922000	0.55478	0.457000	0.21875	0.008000	0.14787	-0.305000	0.09177	GTT	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450409.1		+	ENST00000393818.2	Silent	SNP	17 : 40714982 - 40714982 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	1143	101
COL6A6	131873	broad.mit.edu	37	3	130361862	130361862	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:130361862G>A	ENST00000358511.6	+	30	5253	c.5222G>A	c.(5221-5223)cGc>cAc	p.R1741H	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1741H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1741	Nonhelical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTGCGAGACCGCAGTCGTAAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,3761		0,1,1880	111	97	101		5222	3.3	0.5	3		101	0,8210		0,0,4105	no	missense	COL6A6	NM_001102608.1	29	0,1,5985	AA,AG,GG	NA	0.0,0.0266,0.0084	benign	1741/2264	130361862	1,11971	1881	4105	5986	SO:0001583	missense			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384	131873	131873		Collagens	27023	protein-coding gene	gene with protein product					NA		Standard	NM_001102608	NM_001102608	NA	Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5222G>A	3.37:g.130361862G>A	ENSP00000351310:p.Arg1741His	NA	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	3.402	-0.122029	0.06795	2.66E-4	0.0	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.88818	-2.42;-2.43	5.67	3.33	0.38152	.	.	.	.	.	T	0.61085	0.2319	N	0.00182	-1.905	0.22253	N	0.999252	B	0.02656	0.0	B	0.01281	0.0	T	0.55755	-0.8091	9	0.12430	T	0.62	.	7.9706	0.30126	0.8354:0.0:0.1646:0.0	.	1741	A6NMZ7	CO6A6_HUMAN	H	1741	ENSP00000351310:R1741H;ENSP00000399236:R1741H	ENSP00000351310:R1741H	R	+	2	0	COL6A6	131844552	1.000000	0.71417	0.542000	0.28115	0.935000	0.57460	3.430000	0.52807	0.445000	0.26639	-0.367000	0.07326	CGC	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356705.5		+	ENST00000358511.6	Missense_Mutation	SNP	3 : 130361862 - 130361862 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	167	21
CPNE2	221184	broad.mit.edu	37	16	57153169	57153169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:57153169G>A	ENST00000535318.2	+	7	931	c.570G>A	c.(568-570)tgG>tgA	p.W190*	CPNE2_ENST00000290776.8_Nonsense_Mutation_p.W190*|CPNE2_ENST00000537605.1_Nonsense_Mutation_p.W88*|CPNE2_ENST00000565874.1_Nonsense_Mutation_p.W190*			Q96FN4	CPNE2_HUMAN	copine II	190	C2 2.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				ATGGCAAGTGGATGCTGGTCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	93	97			NA	NA	16		NA											NA				57153169		2198	4300	6498	SO:0001587	stop_gained				CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848	221184	221184			2315	protein-coding gene	gene with protein product		604206			NA	9430674	Standard	NM_152727	NM_152727	NA	Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.570G>A	16.37:g.57153169G>A	ENSP00000439018:p.Trp190*	NA	Q68D19|Q86XP9	37	CCDS10774.1	.	.	.	.	.	.	.	.	.	.	G	43	10.004895	0.99315	.	.	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2675	19.397	0.94611	0.0:0.0:1.0:0.0	.	.	.	.	X	190;88;190	.	ENSP00000290776:W190X	W	+	3	0	CPNE2	55710670	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.845000	0.99498	2.594000	0.87642	0.555000	0.69702	TGG	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432986.2		+	ENST00000535318.2	Nonsense_Mutation	SNP	16 : 57153169 - 57153169 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	545	90
DEFB135	613209	broad.mit.edu	37	8	11841997	11841997	+	Silent	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr8:11841997C>T	ENST00000382208.2	+	2	132	c.132C>T	c.(130-132)tgC>tgT	p.C44C		NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN	defensin, beta 135	44					defense response to bacterium	extracellular region				endometrium(1)|large_intestine(2)|prostate(1)	4						AAGGTACTTGCCGGCCAAAAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	99	99			NA	NA	8		NA											NA				11841997		1879	4107	5986	SO:0001819	synonymous_variant			DQ012025	CCDS43710.1	8p23.1	2009-05-27			ENSG00000205883	ENSG00000205883	613209	613209		Defensins, beta	32400	protein-coding gene	gene with protein product					NA	16033865	Standard	NM_001033017	NM_001033017	NA	Approved		uc003wuw.1	Q30KP9	OTTHUMG00000158719	ENST00000382208.2:c.132C>T	8.37:g.11841997C>T		NA	Q4QY37	37	CCDS43710.1																																																																																			DEFB135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351888.1		+	ENST00000382208.2	Silent	SNP	8 : 11841997 - 11841997 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	321	5
DLEC1	9940	broad.mit.edu	37	3	38103746	38103746	+	Missense_Mutation	SNP	G	G	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:38103746G>T	ENST00000308059.6	+	4	781	c.760G>T	c.(760-762)Gat>Tat	p.D254Y	DLEC1_ENST00000346219.3_Missense_Mutation_p.D254Y|DLEC1_ENST00000452631.2_Missense_Mutation_p.D254Y			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	254					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAAGCTTGAAGATTCATGCAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	89	92			NA	NA	3		NA											NA				38103746		1973	4173	6146	SO:0001583	missense			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226	9940	9940			2899	protein-coding gene	gene with protein product	cilia and flagella associated protein 81	604050			NA	10213508	Standard	NM_007337	XM_005265630	NA	Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.760G>T	3.37:g.38103746G>T	ENSP00000308597:p.Asp254Tyr	NA	Q9NSW0|Q9NTG5	37	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	9.251	1.040773	0.19669	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05319	3.47;3.46;3.7	3.67	1.69	0.24217	.	1.190300	0.06148	N	0.673614	T	0.08537	0.0212	L	0.46157	1.445	0.09310	N	1	B;P;B	0.35714	0.333;0.517;0.333	B;B;B	0.35413	0.187;0.202;0.187	T	0.40739	-0.9547	10	0.62326	D	0.03	-0.079	9.4496	0.38719	0.0:0.4281:0.5719:0.0	.	254;254;254	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	Y	254	ENSP00000308597:D254Y;ENSP00000315914:D254Y;ENSP00000410427:D254Y	ENSP00000308597:D254Y	D	+	1	0	DLEC1	38078750	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.182000	0.16900	0.455000	0.26910	0.655000	0.94253	GAT	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253745.3		+	ENST00000308059.6	Missense_Mutation	SNP	3 : 38103746 - 38103746 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	274	19
DNAH10	196385	broad.mit.edu	37	12	124326011	124326011	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:124326011C>T	ENST00000409039.3	+	29	4950	c.4925C>T	c.(4924-4926)aCg>aTg	p.T1642M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1642	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GACTGGATGACGGCAGTTTTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR	0,3956		0,0,1978	141	145	144		4925	5.2	0.9	12		144	3,8305		0,3,4151	no	missense	DNAH10	NM_207437.3	81	0,3,6129	TT,TC,CC	NA	0.0361,0.0,0.0245	probably-damaging	1642/4472	124326011	3,12261	1978	4154	6132	SO:0001583	missense			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653	196385	196385		Axonemal dyneins	2941	protein-coding gene	gene with protein product		605884	dynein, axonemal, heavy polypeptide 10		NA		Standard		NM_207437	NA	Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4925C>T	12.37:g.124326011C>T	ENSP00000386770:p.Thr1642Met	NA	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671082	0.47781	0.0	3.61E-4	ENSG00000197653	ENST00000409039	T	0.61510	0.1	5.23	5.23	0.72850	Dynein heavy chain, domain-2 (1);	0.000000	0.64402	U	0.000001	T	0.77644	0.4161	M	0.81942	2.565	0.58432	D	0.999995	D	0.89917	1.0	D	0.75484	0.986	T	0.77550	-0.2546	10	0.39692	T	0.17	.	18.7853	0.91952	0.0:1.0:0.0:0.0	.	1642	Q8IVF4	DYH10_HUMAN	M	1642	ENSP00000386770:T1642M	ENSP00000386770:T1642M	T	+	2	0	DNAH10	122891964	1.000000	0.71417	0.945000	0.38365	0.206000	0.24218	4.564000	0.60830	2.457000	0.83068	0.561000	0.74099	ACG	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335420.3		+	ENST00000409039.3	Missense_Mutation	SNP	12 : 124326011 - 124326011 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	460	80
DTYMK	1841	broad.mit.edu	37	2	242625239	242625239	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr2:242625239C>T	ENST00000493095.1	-	0	125				DTYMK_ENST00000305784.2_Missense_Mutation_p.D62N			P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	NA					cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TCCTCCACGTCACTTTTCTTT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	167	170			NA	NA	2		NA											NA				242625239		2203	4296	6499	SO:0001623	5_prime_UTR_variant			X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	1841	1841	2.7.4.9		3061	protein-coding gene	gene with protein product	dTMP kinase, thymidylate (dTMP) kinase	188345			NA	2017365, 8024690	Standard	NM_012145	NM_001165031	NA	Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000493095.1:c.-197G>A	2.37:g.242625239C>T		NA	Q6FGX1|Q9BUX4	37		.	.	.	.	.	.	.	.	.	.	C	5.106	0.205171	0.09704	.	.	ENSG00000168393	ENST00000305784	T	0.41400	1.0	5.34	3.25	0.37280	.	0.614711	0.18111	N	0.151344	T	0.16085	0.0387	N	0.03881	-0.34	0.21220	N	0.999754	B;B	0.10296	0.003;0.0	B;B	0.12156	0.007;0.003	T	0.17107	-1.0380	10	0.17369	T	0.5	-13.2689	4.2064	0.10490	0.0:0.531:0.2149:0.2541	.	62;62	B7ZW70;P23919	.;KTHY_HUMAN	N	62	ENSP00000304802:D62N	ENSP00000304802:D62N	D	-	1	0	DTYMK	242273912	0.986000	0.35501	0.013000	0.15412	0.357000	0.29423	2.433000	0.44793	1.216000	0.43427	0.655000	0.94253	GAC	DTYMK-005	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000322962.1		-	ENST00000493095.1	5'UTR	SNP	2 : 242625239 - 242625239 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	1217	290
ENPP7	339221	broad.mit.edu	37	17	77705082	77705082	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:77705082G>A	ENST00000328313.5	+	1	402	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	61					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCCGAGACGGGGTGAAGGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	50	53			NA	NA	17		NA											NA				77705082		2203	4300	6503	SO:0001583	missense			AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156	339221	339221			23764	protein-coding gene	gene with protein product	alkaline sphingomyelinase				NA	12885774	Standard	NM_178543	NM_178543	NA	Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.181G>A	17.37:g.77705082G>A	ENSP00000332656:p.Gly61Arg	NA	Q6ZTS5|Q8IUS8	37	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895068	0.72639	.	.	ENSG00000182156	ENST00000328313	D	0.86366	-2.11	4.36	3.39	0.38822	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	H	0.96861	3.895	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.95700	0.8748	10	0.87932	D	0	-44.2888	12.2432	0.54555	0.0846:0.0:0.9154:0.0	.	61	Q6UWV6	ENPP7_HUMAN	R	61	ENSP00000332656:G61R	ENSP00000332656:G61R	G	+	1	0	ENPP7	75319677	1.000000	0.71417	0.720000	0.30636	0.696000	0.40369	5.370000	0.66144	1.038000	0.40049	0.561000	0.74099	GGG	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437038.1		+	ENST00000328313.5	Missense_Mutation	SNP	17 : 77705082 - 77705082 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	100	4
FAM71B	153745	broad.mit.edu	37	5	156590130	156590130	+	Silent	SNP	G	G	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr5:156590130G>T	ENST00000302938.4	-	2	1241	c.1146C>A	c.(1144-1146)acC>acA	p.T382T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	382						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACACTTGCTGGTCGTAATAC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	49	48			NA	NA	5		NA											NA				156590130		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613	153745	153745			28397	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_130899	NM_130899	NA	Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1146C>A	5.37:g.156590130G>T		NA	Q1EDD9|Q8TC64|Q96LY8	37	CCDS4335.1																																																																																			FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252570.2		-	ENST00000302938.4	Silent	SNP	5 : 156590130 - 156590130 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	224	9
FILIP1L	11259	broad.mit.edu	37	3	99569205	99569205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:99569205G>A	ENST00000331335.5	-	5	1785	c.1315C>T	c.(1315-1317)Caa>Taa	p.Q439*	FILIP1L_ENST00000383694.2_Nonsense_Mutation_p.Q199*|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Nonsense_Mutation_p.Q15*|FILIP1L_ENST00000354552.3_Nonsense_Mutation_p.Q439*|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000471562.1_Nonsense_Mutation_p.Q199*|CMSS1_ENST00000421999.2_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	439						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TAGCATTCTTGTTTGCTTTTG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	107	109			NA	NA	3		NA											NA				99569205		1834	4073	5907	SO:0001587	stop_gained				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386	11259	11259			24589	protein-coding gene	gene with protein product	downregulated in ovarian cancer 1, GPBP-interacting protein of 130 kDa	612993			NA	8314147, 15935955, 21832087	Standard	NM_014890	NM_001282793	NA	Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000331335.5:c.1315C>T	3.37:g.99569205G>A	ENSP00000327880:p.Gln439*	NA	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	37	CCDS43118.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736310	0.89482	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	.	.	.	5.55	4.66	0.58398	.	0.000000	0.50627	D	0.000119	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-2.2035	16.0018	0.80297	0.0:0.1518:0.8482:0.0	.	.	.	.	X	439;15;199;439;199;185;199	.	ENSP00000327880:Q439X	Q	-	1	0	FILIP1L	101051895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.462000	0.66707	1.286000	0.44565	0.655000	0.94253	CAA	FILIP1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353070.1		-	ENST00000331335.5	Nonsense_Mutation	SNP	3 : 99569205 - 99569205 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	675	113
FRMD4A	55691	broad.mit.edu	37	10	13696478	13696478	+	Silent	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr10:13696478C>T	ENST00000357447.2	-	23	3356	c.2988G>A	c.(2986-2988)ccG>ccA	p.P996P	FRMD4A_ENST00000358621.4_Silent_p.P981P|FRMD4A_ENST00000378503.1_Silent_p.P996P	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	996	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TTTCACTTGACGGTGTCGAGC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	90	86	87		2988	-8.3	0.1	10		87	0,8600		0,0,4300	no	coding-synonymous	FRMD4A	NM_018027.3		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		996/1040	13696478	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474	55691	55691			25491	protein-coding gene	gene with protein product			FERM domain containing 4	FRMD4	NA	10718198	Standard	NM_018027	NM_018027	NA	Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2988G>A	10.37:g.13696478C>T		NA	A7E2Y3|Q5T377	37	CCDS7101.1																																																																																			FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046889.1		-	ENST00000357447.2	Silent	SNP	10 : 13696478 - 13696478 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	224	7
FUOM	282969	broad.mit.edu	37	10	135170216	135170216	+	Silent	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr10:135170216G>A	ENST00000368551.1	-	4	247	c.117C>T	c.(115-117)agC>agT	p.S39S	FUOM_ENST00000368552.3_Silent_p.S84S|FUOM_ENST00000447176.1_Silent_p.S40S|FUOM_ENST00000465384.1_5'UTR|FUOM_ENST00000278025.4_Silent_p.S84S					fucose mutarotase	NA											NA						TCTCCTTGTCGCTGGGCACCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	33	36			NA	NA	10		NA											NA				135170216		2194	4293	6487	SO:0001819	synonymous_variant			AK129527	CCDS7680.1	10q26.3	2012-07-10	2012-07-10	2012-07-10	ENSG00000148803	ENSG00000148803	282969	282969	5.1.3.n2		24733	protein-coding gene	gene with protein product			chromosome 10 open reading frame 125	C10orf125	NA	17602138	Standard	NM_198472	NM_001098483	NA	Approved	FLJ26016, FucU, FucM	uc001lmt.2	A2VDF0	OTTHUMG00000019315	ENST00000368551.1:c.117C>T	10.37:g.135170216G>A		NA		37																																																																																				FUOM-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000051137.1		-	ENST00000368551.1	Silent	SNP	10 : 135170216 - 135170216 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	55	16
GCNT2	2651	broad.mit.edu	37	6	10586309	10586309	+	Silent	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr6:10586309G>A	ENST00000265012.4	+	1	331	c.87G>A	c.(85-87)ccG>ccA	p.P29P	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	30						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AATTGAGCCCGCCAAAAAGTT	0.403		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	7e-04	SNP								NA				0													138	133	135			NA	NA	6		NA											NA				10586309		2203	4300	6503	SO:0001819	synonymous_variant			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2651	2651	2.4.1.150	Blood group antigens, Glucosaminyl (N-acetyl) transferase and xylosyltransferase family	4204	protein-coding gene	gene with protein product	Ii blood group, unassigned linkage group 3	600429	glucosaminyl (N-acetyl) transferase 5, glucosaminyl (N-acetyl) transferase 2, I-branching enzyme, glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group), cataract, congenital	NACGT1, II, GCNT5, CCAT	NA	8449405, 9915862	Standard	NM_145649	NM_145649	NA	Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000265012.4:c.87G>A	6.37:g.10586309G>A		NA		37	CCDS4513.1																																																																																			GCNT2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039828.1		+	ENST00000265012.4	Silent	SNP	6 : 10586309 - 10586309 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	706	10
GPRC6A	222545	broad.mit.edu	37	6	117113727	117113727	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr6:117113727C>T	ENST00000310357.3	-	6	2380	c.2359G>A	c.(2359-2361)Ggc>Agc	p.G787S	GPRC6A_ENST00000530250.1_Missense_Mutation_p.G612S|GPRC6A_ENST00000368549.3_Missense_Mutation_p.G716S	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	787					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATGAGCATGCCAAATGTAATG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	79	77			NA	NA	6		NA											NA				117113727		2203	4300	6503	SO:0001583	missense			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612	NA	222545		GPCR / Class C : Calcium-sensing receptors	18510	protein-coding gene	gene with protein product			G protein-coupled receptor, family C, group 6, member A		NA		Standard		NM_001286354	NA	Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2359G>A	6.37:g.117113727C>T	ENSP00000309493:p.Gly787Ser	NA	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	37	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	8.574	0.880765	0.17467	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.85411	-1.98;-1.98;-1.98	4.26	4.26	0.50523	GPCR, family 3, C-terminal (2);	0.000000	0.53938	D	0.000041	T	0.62146	0.2404	N	0.04669	-0.19	0.49130	D	0.999757	P;P;P	0.39903	0.65;0.504;0.694	P;B;B	0.47603	0.551;0.292;0.418	T	0.70171	-0.4945	10	0.02654	T	1	.	16.8566	0.86007	0.0:1.0:0.0:0.0	.	716;612;787	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	S	787;716;612	ENSP00000309493:G787S;ENSP00000357537:G716S;ENSP00000433465:G612S	ENSP00000309493:G787S	G	-	1	0	GPRC6A	117220420	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.930000	0.48924	2.210000	0.71456	0.591000	0.81541	GGC	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041966.2		-	ENST00000310357.3	Missense_Mutation	SNP	6 : 117113727 - 117113727 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	234	39
GREB1	9687	broad.mit.edu	37	2	11780474	11780474	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr2:11780474G>A	ENST00000381486.2	+	33	6044	c.5744G>A	c.(5743-5745)cGc>cAc	p.R1915H	GREB1_ENST00000234142.5_Missense_Mutation_p.R1915H|GREB1_ENST00000396123.1_Missense_Mutation_p.R913H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1915						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACGGTCGTCCGCCTGGAGCTC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(39;850 945 2785 23371 33093)							NA				0													47	54	52			NA	NA	2		NA											NA				11780474		2036	4175	6211	SO:0001583	missense				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208	9687	9687			24885	protein-coding gene	gene with protein product	gene regulated by estrogen in breast cancer	611736			NA	11103799	Standard	NM_014668	NM_014668	NA	Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5744G>A	2.37:g.11780474G>A	ENSP00000370896:p.Arg1915His	NA	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412272	0.96072	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.33438	2.72;2.72;1.41	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62039	-0.6938	10	0.87932	D	0	-33.8736	18.3628	0.90380	0.0:0.0:1.0:0.0	.	1915	Q4ZG55	GREB1_HUMAN	H	1915;1915;913	ENSP00000370896:R1915H;ENSP00000234142:R1915H;ENSP00000379429:R913H	ENSP00000234142:R1915H	R	+	2	0	GREB1	11697925	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.227000	0.95236	2.316000	0.78162	0.563000	0.77884	CGC	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280490.1		+	ENST00000381486.2	Missense_Mutation	SNP	2 : 11780474 - 11780474 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	320	56
GRM8	2918	broad.mit.edu	37	7	126173814	126173814	+	Missense_Mutation	SNP	C	C	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr7:126173814C>G	ENST00000339582.2	-	9	2430	c.1622G>C	c.(1621-1623)tGt>tCt	p.C541S	GRM8_ENST00000358373.3_Missense_Mutation_p.C541S|GRM8_ENST00000444921.2_Missense_Mutation_p.C541S|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	541					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GTAACCTTCACAGCGTTCACA	0.562		NA								HNSCC(24;0.065)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	118	121			NA	NA	7		NA											NA				126173814		2203	4300	6503	SO:0001583	missense				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603	NA	2918		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4600	protein-coding gene	gene with protein product		601116			NA	8824806	Standard		NM_000845	NA	Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1622G>C	7.37:g.126173814C>G	ENSP00000344173:p.Cys541Ser	NA	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281561	0.80692	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.99494	-6.01;-6.01;-6.01	5.8	5.8	0.92144	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.99785	0.9910	H	0.98682	4.3	0.80722	D	1	P;D	0.89917	0.867;1.0	B;D	0.87578	0.359;0.998	D	0.97086	0.9787	10	0.87932	D	0	.	19.0428	0.93008	0.0:1.0:0.0:0.0	.	541;541	O00222-2;O00222	.;GRM8_HUMAN	S	541	ENSP00000344173:C541S;ENSP00000409790:C541S;ENSP00000351142:C541S	ENSP00000344173:C541S	C	-	2	0	GRM8	125961050	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.811000	0.86092	2.758000	0.94735	0.643000	0.83706	TGT	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059209.4		-	ENST00000339582.2	Missense_Mutation	SNP	7 : 126173814 - 126173814 G PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	454	85
HS3ST6	64711	broad.mit.edu	37	16	1962193	1962193	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:1962193G>A	ENST00000454677.2	-	2	543	c.478C>T	c.(478-480)Cga>Tga	p.R160*	HS3ST6_ENST00000443547.1_Nonsense_Mutation_p.R112*|HS3ST6_ENST00000293937.3_Nonsense_Mutation_p.R143*			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	112										endometrium(2)|lung(2)	4						TCCAGGGTTCGGGGCATCAGA	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	stop/ARG	1,4379		0,1,2189	12	14	13		334	4.9	0.7	16		13	0,8588		0,0,4294	no	stop-gained	HS3ST6	NM_001009606.2		0,1,6483	AA,AG,GG	NA	0.0,0.0228,0.0077		112/312	1962193	1,12967	2190	4294	6484	SO:0001587	stop_gained					16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040	64711	64711		Sulfotransferases, membrane-bound	14178	protein-coding gene	gene with protein product			heparan sulfate (glucosamine) 3-O-sulfotransferase 5	HS3ST5	NA	11157797	Standard	NM_001009606	NM_001009606	NA	Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000454677.2:c.478C>T	16.37:g.1962193G>A	ENSP00000416741:p.Arg160*	NA		37		.	.	.	.	.	.	.	.	.	.	G	13.70	2.316851	0.40996	2.28E-4	0.0	ENSG00000162040	ENST00000293937;ENST00000443547;ENST00000454677	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2723	0.54712	0.0:0.0:0.8304:0.1696	.	.	.	.	X	143;112;182	.	ENSP00000293937:R143X	R	-	1	2	HS3ST6	1902194	0.990000	0.36364	0.651000	0.29564	0.066000	0.16364	2.443000	0.44881	2.287000	0.76781	0.555000	0.69702	CGA	HS3ST6-001	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000109088.2		-	ENST00000454677.2	Nonsense_Mutation	SNP	16 : 1962193 - 1962193 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	87	19
HTR2C	3358	broad.mit.edu	37	X	114082716	114082716	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chrX:114082716C>T	ENST00000276198.1	+	5	1228	c.500C>T	c.(499-501)tCg>tTg	p.S167L	HTR2C_ENST00000371950.3_Intron|HTR2C_ENST00000371951.1_Missense_Mutation_p.S167L	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	167					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.S167L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CGTTTCAATTCGCGGACTAAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											126	106	113			NA	NA	X		NA											NA				114082716		2203	4300	6503	SO:0001583	missense				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246	3358	3358		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5295	protein-coding gene	gene with protein product		312861	5-hydroxytryptamine (serotonin) receptor 2C	HTR1C	NA	7895773	Standard	NM_000868	NM_000868	NA	Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.500C>T	X.37:g.114082716C>T	ENSP00000276198:p.Ser167Leu	NA	Q5VUF8|Q9NP28	37	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713163	0.89112	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.41400	1.0;1.0	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.69369	0.3103	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77112	-0.2708	10	0.87932	D	0	.	13.3413	0.60547	0.0:1.0:0.0:0.0	.	167	P28335	5HT2C_HUMAN	L	167	ENSP00000276198:S167L;ENSP00000361019:S167L	ENSP00000276198:S167L	S	+	2	0	HTR2C	113988972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.686000	0.84128	1.704000	0.51252	0.544000	0.68410	TCG	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057962.1		+	ENST00000276198.1	Missense_Mutation	SNP	X : 114082716 - 114082716 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	223	86
IGSF22	283284	broad.mit.edu	37	11	18738405	18738405	+	Missense_Mutation	SNP	C	C	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:18738405C>A	ENST00000513874.1	-	10	1255	c.1116G>T	c.(1114-1116)aaG>aaT	p.K372N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	372										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGATTTCATACTTGTCATCCC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													255	252	253			NA	NA	11		NA											NA				18738405		2078	4192	6270	SO:0001583	missense			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057	283284	283284		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	26750	protein-coding gene	gene with protein product					NA		Standard	NM_173588	NM_173588	NA	Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1116G>T	11.37:g.18738405C>A	ENSP00000421191:p.Lys372Asn	NA	A6NNA0	37	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783844	0.70222	.	.	ENSG00000179057	ENST00000513874	T	0.44083	0.93	4.94	-0.225	0.13111	.	0.000000	0.37857	U	0.001902	T	0.39091	0.1065	M	0.73319	2.225	0.27060	N	0.96358	P	0.40578	0.722	B	0.39738	0.308	T	0.34650	-0.9820	10	0.45353	T	0.12	.	9.8716	0.41177	0.0:0.6398:0.0:0.3602	.	372	D6RGV7	.	N	372	ENSP00000421191:K372N	ENSP00000322422:K372N	K	-	3	2	IGSF22	18694981	0.334000	0.24739	0.728000	0.30774	0.997000	0.91878	-0.495000	0.06443	0.050000	0.15949	0.655000	0.94253	AAG	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360850.2		-	ENST00000513874.1	Missense_Mutation	SNP	11 : 18738405 - 18738405 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	891	169
IMPG2	50939	broad.mit.edu	37	3	100951770	100951770	+	Missense_Mutation	SNP	A	A	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:100951770A>T	ENST00000193391.7	-	15	3275	c.3088T>A	c.(3088-3090)Tgg>Agg	p.W1030R		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1030	EGF-like 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCTCCACTCCAGGGGTTGACC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	98	99			NA	NA	3		NA											NA				100951770		2203	4300	6503	SO:0001583	missense			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148	50939	50939			18362	protein-coding gene	gene with protein product		607056			NA	10542133	Standard		NM_016247	NA	Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3088T>A	3.37:g.100951770A>T	ENSP00000193391:p.Trp1030Arg	NA	A8MWT5|Q9UKD4|Q9UKK5	37	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993749	0.74703	.	.	ENSG00000081148	ENST00000193391	T	0.25085	1.82	5.88	4.66	0.58398	Epidermal growth factor-like, type 3 (1);	0.082660	0.53938	D	0.000052	T	0.44435	0.1293	L	0.55834	1.745	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.38436	-0.9661	10	0.72032	D	0.01	-4.5245	12.8058	0.57612	0.8637:0.1363:0.0:0.0	.	1030;1030	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	R	1030	ENSP00000193391:W1030R	ENSP00000193391:W1030R	W	-	1	0	IMPG2	102434460	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.846000	0.69444	2.257000	0.74773	0.459000	0.35465	TGG	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353256.3		-	ENST00000193391.7	Missense_Mutation	SNP	3 : 100951770 - 100951770 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	351	75
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	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-3E-AAAZ-Tumor-SM-5W7VC	438	70
LHX5	64211	broad.mit.edu	37	12	113906184	113906184	+	Missense_Mutation	SNP	C	C	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:113906184C>G	ENST00000261731.3	-	3	996	c.423G>C	c.(421-423)ttG>ttC	p.L141F		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	141						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GGTCCGGGGACAAACTGCGGT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	68	74			NA	NA	12		NA											NA				113906184		2203	4300	6503	SO:0001583	missense			AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116	64211	64211		Homeoboxes / LIM class	14216	protein-coding gene	gene with protein product		605992			NA		Standard	NM_022363	NM_022363	NA	Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.423G>C	12.37:g.113906184C>G	ENSP00000261731:p.Leu141Phe	NA	Q32MA4	37	CCDS9171.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.838936	0.51057	.	.	ENSG00000089116	ENST00000261731	D	0.91945	-2.94	4.85	2.98	0.34508	.	0.000000	0.43747	D	0.000537	D	0.89451	0.6719	L	0.59436	1.845	0.51767	D	0.999931	P	0.40332	0.713	B	0.44044	0.439	D	0.85201	0.1015	10	0.16896	T	0.51	.	9.9534	0.41653	0.0:0.7986:0.0:0.2014	.	141	Q9H2C1	LHX5_HUMAN	F	141	ENSP00000261731:L141F	ENSP00000261731:L141F	L	-	3	2	LHX5	112390567	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.206000	0.32321	2.213000	0.71641	0.491000	0.48974	TTG	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404788.3		-	ENST00000261731.3	Missense_Mutation	SNP	12 : 113906184 - 113906184 G PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	121	25
LINGO1	84894	broad.mit.edu	37	15	77906745	77906745	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr15:77906745C>T	ENST00000355300.6	-	2	1678	c.1504G>A	c.(1504-1506)Gcg>Acg	p.A502T	LINGO1_ENST00000561030.1_Missense_Mutation_p.A496T	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	502	Ig-like C2-type.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TTGCCGCCCGCGTTGGCCGCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	44	43			NA	NA	15		NA											NA				77906745		2132	4216	6348	SO:0001583	missense			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783	84894	84894		Immunoglobulin superfamily / I-set domain containing	21205	protein-coding gene	gene with protein product		609791	leucine rich repeat neuronal 6A	LRRN6A	NA	14686891	Standard	NM_032808	XM_006720723	NA	Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1504G>A	15.37:g.77906745C>T	ENSP00000347451:p.Ala502Thr	NA	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	37	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222208	0.79464	.	.	ENSG00000169783	ENST00000355300	T	0.67171	-0.25	5.08	5.08	0.68730	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74230	0.3689	L	0.55743	1.74	0.80722	D	1	D	0.63046	0.992	P	0.57679	0.825	T	0.70303	-0.4909	10	0.22706	T	0.39	.	18.482	0.90815	0.0:1.0:0.0:0.0	.	502	Q96FE5	LIGO1_HUMAN	T	502	ENSP00000347451:A502T	ENSP00000347451:A502T	A	-	1	0	LINGO1	75693800	1.000000	0.71417	0.996000	0.52242	0.770000	0.43624	7.818000	0.86416	2.359000	0.80004	0.462000	0.41574	GCG	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419546.1		-	ENST00000355300.6	Missense_Mutation	SNP	15 : 77906745 - 77906745 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	141	12
MDM1	56890	broad.mit.edu	37	12	68719231	68719231	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:68719231G>A	ENST00000540418.1	-	0	298				MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000411698.2_Intron|MDM1_ENST00000303145.7_Missense_Mutation_p.A208V			Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	NA						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CTGATTGGCTGCAAAAGCTGG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	133	129			NA	NA	12		NA											NA				68719231		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554	56890	56890			29917	protein-coding gene	gene with protein product		613813	Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)		NA	8619474, 9110174	Standard	NM_020128	NM_017440	NA	Approved		uc001stz.2	Q8TC05		ENST00000540418.1:c.-218C>T	12.37:g.68719231G>A		NA	O43406|Q8WTV9|Q9NR04	37		.	.	.	.	.	.	.	.	.	.	G	18.69	3.677391	0.68042	.	.	ENSG00000111554	ENST00000303145;ENST00000541686	T;T	0.28454	1.61;1.61	5.29	5.29	0.74685	.	0.230365	0.43579	D	0.000546	T	0.48714	0.1515	M	0.75264	2.295	0.80722	D	1	D	0.55172	0.97	P	0.51657	0.676	T	0.47787	-0.9090	9	.	.	.	-1.8086	19.3236	0.94252	0.0:0.0:1.0:0.0	.	208	Q8TC05	MDM1_HUMAN	V	208;203	ENSP00000302537:A208V;ENSP00000446000:A203V	.	A	-	2	0	MDM1	67005498	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	5.010000	0.64004	2.654000	0.90174	0.561000	0.74099	GCA	MDM1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000402401.1		-	ENST00000540418.1	5'UTR	SNP	12 : 68719231 - 68719231 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	1197	9
MLEC	9761	broad.mit.edu	37	12	121134267	121134267	+	Missense_Mutation	SNP	G	G	A	rs144716658		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:121134267G>A	ENST00000412616.2	+	3	615	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	MLEC_ENST00000228506.3_Silent_p.S266S|MLEC_ENST00000535413.1_3'UTR			Q14165	MLEC_HUMAN	malectin	266					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						CCTATGCCTCGGACAACAGCA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	183	171	175		798	-2.4	1	12	dbSNP_134	175	0,8600		0,0,4300	no	coding-synonymous	MLEC	NM_014730.2		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		266/293	121134267	1,13005	2203	4300	6503	SO:0001583	missense			BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917	9761	9761			28973	protein-coding gene	gene with protein product	oligosaccharyltransferase complex subunit (non-catalytic)	613802	KIAA0152	KIAA0152	NA	18524852	Standard	NM_014730	NM_014730	NA	Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000412616.2:c.563G>A	12.37:g.121134267G>A	ENSP00000440746:p.Arg188Gln	NA		37		.	.	.	.	.	.	.	.	.	.	G	11.21	1.572146	0.28092	2.27E-4	0.0	ENSG00000110917	ENST00000412616	.	.	.	5.43	-2.37	0.06643	.	.	.	.	.	T	0.23926	0.0579	.	.	.	0.22156	N	0.999323	.	.	.	.	.	.	T	0.31668	-0.9935	5	0.45353	T	0.12	.	1.5104	0.02494	0.3009:0.0872:0.3554:0.2565	.	.	.	.	Q	188	.	ENSP00000440746:R188Q	R	+	2	0	MLEC	119618650	0.974000	0.33945	0.996000	0.52242	0.982000	0.71751	0.103000	0.15292	-0.107000	0.12088	-1.008000	0.02478	CGG	MLEC-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000402850.1		+	ENST00000412616.2	Missense_Mutation	SNP	12 : 121134267 - 121134267 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	763	10
MYO16	23026	broad.mit.edu	37	13	109777647	109777647	+	Silent	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr13:109777647C>T	ENST00000357550.2	+	29	3698	c.3657C>T	c.(3655-3657)aaC>aaT	p.N1219N	MYO16_ENST00000457511.2_Silent_p.N731N|MYO16_ENST00000356711.2_Silent_p.N1219N	NM_001198950.1	NP_001185879.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1219					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GTGAAATGAACGCTCCCTACC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	58	59			NA	NA	13		NA											NA				109777647		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515	23026	23026		Myosins / Myosin superfamily : Class XVI, Ankyrin repeat domain containing	29822	protein-coding gene	gene with protein product	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3, protein phosphatase 1, regulatory subunit 107	615479			NA	11588169, 17029291, 21946561	Standard	NM_015011	NM_001198950	NA	Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3657C>T	13.37:g.109777647C>T		NA	A6H8Y0|A8MTX3|Q5VYX4|Q5VYX5|Q5VYX6|Q6ZS13|Q8N3C2|Q8N948	37	CCDS32008.1																																																																																			MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045746.1		+	ENST00000357550.2	Silent	SNP	13 : 109777647 - 109777647 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	233	36
NLRP2	55655	broad.mit.edu	37	19	55494938	55494938	+	Silent	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:55494938G>A	ENST00000543010.1	+	6	2015	c.1872G>A	c.(1870-1872)caG>caA	p.Q624Q	NLRP2_ENST00000391721.4_Silent_p.Q600Q|NLRP2_ENST00000538819.1_Silent_p.Q600Q|NLRP2_ENST00000427260.2_Silent_p.Q601Q|NLRP2_ENST00000263437.6_Silent_p.Q621Q|NLRP2_ENST00000448584.2_Silent_p.Q624Q|NLRP2_ENST00000537859.1_Silent_p.Q602Q|NLRP2_ENST00000339757.7_Silent_p.Q602Q	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	624					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGATGGCTCAGTTCAAAGAAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	88	96			NA	NA	19		NA											NA				55494938		2203	4300	6503	SO:0001819	synonymous_variant			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556	55655	55655		Nucleotide-binding domain and leucine rich repeat containing	22948	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2	609364	NACHT, leucine rich repeat and PYD containing 2	NALP2	NA	12563287, 11270363	Standard	NM_017852	NM_001174081	NA	Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1872G>A	19.37:g.55494938G>A		NA	Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	37	CCDS12913.1																																																																																			NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396152.1		+	ENST00000543010.1	Silent	SNP	19 : 55494938 - 55494938 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	187	40
NLRP3	114548	broad.mit.edu	37	1	247587616	247587616	+	Missense_Mutation	SNP	G	G	A	rs145092553		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:247587616G>A	ENST00000336119.3	+	3	1617	c.871G>A	c.(871-873)Gtg>Atg	p.V291M	NLRP3_ENST00000366496.2_Missense_Mutation_p.V291M|NLRP3_ENST00000391827.2_Missense_Mutation_p.V291M|NLRP3_ENST00000366497.2_Missense_Mutation_p.V291M|NLRP3_ENST00000348069.2_Missense_Mutation_p.V291M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.V291M	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	291	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCACAAGATCGTGAGAAAACC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	71	72	72		871,871,871,871,871	-3.9	0.1	1	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	NLRP3	NM_001079821.2,NM_001127461.2,NM_001127462.2,NM_004895.4,NM_183395.2	21,21,21,21,21	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign,benign,benign,benign,benign	291/1037,291/980,291/980,291/1037,291/923	247587616	1,13005	2203	4300	6503	SO:0001583	missense			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711	114548	114548		Nucleotide-binding domain and leucine rich repeat containing	16400	protein-coding gene	gene with protein product	Cryopyrin, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3	606416	cold autoinflammatory syndrome 1	C1orf7, CIAS1	NA	10741953	Standard	NM_004895	NM_183395	NA	Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.871G>A	1.37:g.247587616G>A	ENSP00000337383:p.Val291Met	NA	B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	0.829	-0.746010	0.03065	0.0	1.16E-4	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	4.04	-3.93	0.04143	NACHT nucleoside triphosphatase (1);	0.890365	0.09442	N	0.801583	T	0.51381	0.1671	N	0.13003	0.285	0.09310	N	1	B;B;P;B;B	0.40602	0.07;0.057;0.723;0.194;0.038	B;B;B;B;B	0.31495	0.025;0.015;0.131;0.04;0.028	T	0.51764	-0.8664	10	0.16420	T	0.52	.	2.6671	0.05056	0.1107:0.4328:0.1811:0.2754	.	291;291;291;291;291	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	291	ENSP00000375704:V291M;ENSP00000355453:V291M;ENSP00000337383:V291M;ENSP00000294752:V291M;ENSP00000355452:V291M;ENSP00000375703:V291M	ENSP00000337383:V291M	V	+	1	0	NLRP3	245654239	0.004000	0.15560	0.095000	0.20976	0.012000	0.07955	0.080000	0.14802	-0.743000	0.04784	0.563000	0.77884	GTG	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097740.1		+	ENST00000336119.3	Missense_Mutation	SNP	1 : 247587616 - 247587616 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	506	181
NUAK2	81788	broad.mit.edu	37	1	205273036	205273036	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:205273036C>T	ENST00000367157.3	-	7	1555	c.1429G>A	c.(1429-1431)Gtg>Atg	p.V477M		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	477					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CTCACAAACACGTCGCCTGCG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	37	38			NA	NA	1		NA											NA				205273036		2203	4300	6503	SO:0001583	missense			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545	81788	81788			29558	protein-coding gene	gene with protein product	SNF1/AMP activated protein kinase	608131			NA	11230166	Standard	NM_030952	NM_030952	NA	Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1429G>A	1.37:g.205273036C>T	ENSP00000356125:p.Val477Met	NA		37	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567476	0.28003	.	.	ENSG00000163545	ENST00000367157	T	0.72282	-0.64	4.86	4.86	0.63082	.	0.000000	0.40640	N	0.001045	T	0.69187	0.3083	L	0.60455	1.87	0.28049	N	0.933438	D	0.64830	0.994	P	0.52159	0.691	T	0.65911	-0.6053	10	0.37606	T	0.19	.	4.1079	0.10045	0.1634:0.5906:0.158:0.088	.	477	Q9H093	NUAK2_HUMAN	M	477	ENSP00000356125:V477M	ENSP00000356125:V477M	V	-	1	0	NUAK2	203539659	0.846000	0.29590	0.989000	0.46669	0.173000	0.22820	1.357000	0.34090	2.234000	0.73211	0.407000	0.27541	GTG	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090390.1		-	ENST00000367157.3	Missense_Mutation	SNP	1 : 205273036 - 205273036 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	222	23
OR1N2	138882	broad.mit.edu	37	9	125315452	125315452	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr9:125315452G>T	ENST00000373688.2	+	1	62	c.4G>T	c.(4-6)Gaa>Taa	p.E2*		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTGACACATGGAAGGTTTTTA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	83	82			NA	NA	9		NA											NA				125315452		2203	4300	6503	SO:0001587	stop_gained				CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501	138882	138882		GPCR / Class A : Olfactory receptors	15111	protein-coding gene	gene with protein product					NA		Standard		NM_001004457	NA	Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.4G>T	9.37:g.125315452G>T	ENSP00000362792:p.Glu2*	NA	A3KFM2|B2RNY4|Q6IF17|Q96RA3	37	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426314	0.62733	.	.	ENSG00000171501	ENST00000373688	.	.	.	3.55	0.384	0.16244	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	0.7679	0.01018	0.2222:0.1643:0.399:0.2145	.	.	.	.	X	2	.	ENSP00000362792:E2X	E	+	1	0	OR1N2	124355273	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	-0.184000	0.09698	-0.024000	0.13941	0.638000	0.83543	GAA	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053937.2		+	ENST00000373688.2	Nonsense_Mutation	SNP	9 : 125315452 - 125315452 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	365	89
OR5M3	219482	broad.mit.edu	37	11	56237502	56237502	+	Missense_Mutation	SNP	T	T	C	rs148100298	by1000genomes	TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:56237502T>C	ENST00000312240.2	-	1	512	c.472A>G	c.(472-474)Aca>Gca	p.T158A		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T158A(1)|p.T158P(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GTCCATAATGTTGCTGCCAGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	ovary(1)|lung(1)											122	112	115			NA	NA	11		NA											NA				56237502		2201	4295	6496	SO:0001583	missense			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937	219482	219482		GPCR / Class A : Olfactory receptors	14806	protein-coding gene	gene with protein product					NA		Standard	NM_001004742	NM_001004742	NA	Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.472A>G	11.37:g.56237502T>C	ENSP00000312208:p.Thr158Ala	NA	B2RNM7|Q6IEW4|Q96RC0	37	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.870782	0.33069	.	.	ENSG00000174937	ENST00000312240	T	0.00256	8.42	5.22	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000173	T	0.00412	0.0013	L	0.60904	1.88	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51411	-0.8709	10	0.48119	T	0.1	-6.2895	10.3656	0.44021	0.1471:0.0:0.0:0.8529	.	158	Q8NGP4	OR5M3_HUMAN	A	158	ENSP00000312208:T158A	ENSP00000312208:T158A	T	-	1	0	OR5M3	55994078	0.000000	0.05858	0.015000	0.15790	0.560000	0.35617	0.095000	0.15127	0.796000	0.33947	0.448000	0.29417	ACA	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391639.1		-	ENST00000312240.2	Missense_Mutation	SNP	11 : 56237502 - 56237502 C PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	744	145
PCDHA2	56146	broad.mit.edu	37	5	140175222	140175222	+	Missense_Mutation	SNP	A	A	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr5:140175222A>G	ENST00000520672.2	+	1	779	c.673A>G	c.(673-675)Acc>Gcc	p.T225A	PCDHA2_ENST00000378132.1_Missense_Mutation_p.T225A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Missense_Mutation_p.T225A	NM_031496.1	NP_113684.1			protocadherin alpha 2	NA										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCACGGGCACCGTTCAAAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	91	87			NA	NA	5		NA											NA				140175222		2202	4300	6502	SO:0001583	missense			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969	56146	56146		Cadherins / Protocadherins : Clustered	8668	other	complex locus constituent	KIAA0345-like 12	606308			NA	10380929	Standard	NM_018905	NM_018905	NA	Approved			Q9Y5H9		ENST00000520672.2:c.673A>G	5.37:g.140175222A>G	ENSP00000430584:p.Thr225Ala	NA		37		.	.	.	.	.	.	.	.	.	.	a	14.46	2.541178	0.45280	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.56275	0.47;0.47;0.47	4.02	2.83	0.33086	Cadherin (4);Cadherin-like (1);	0.000000	0.40908	U	0.000988	T	0.69735	0.3144	M	0.92077	3.27	0.31199	N	0.699996	P;B;P	0.40266	0.71;0.374;0.71	B;P;B	0.50378	0.362;0.639;0.362	T	0.75105	-0.3435	10	0.87932	D	0	.	9.9392	0.41570	0.8476:0.0:0.0:0.1524	.	225;225;225	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	A	225	ENSP00000430584:T225A;ENSP00000367372:T225A;ENSP00000431748:T225A	ENSP00000367372:T225A	T	+	1	0	PCDHA2	140155406	0.998000	0.40836	0.981000	0.43875	0.995000	0.86356	4.169000	0.58223	0.681000	0.31386	0.528000	0.53228	ACC	PCDHA2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000374265.2		+	ENST00000520672.2	Missense_Mutation	SNP	5 : 140175222 - 140175222 G PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	593	101
PDYN	5173	broad.mit.edu	37	20	1961195	1961195	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr20:1961195C>T	ENST00000217305.2	-	4	764	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PDYN_ENST00000539905.1_Missense_Mutation_p.R180H|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.R180H	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	180					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGGTATTTGCGCAAAAAGCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	103	102			NA	NA	20		NA											NA				1961195		2203	4300	6503	SO:0001583	missense				CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327	5173	5173		Endogenous ligands	8820	protein-coding gene	gene with protein product	preproenkephalin B, rimorphin, beta-neoendorphin, dynorphin, leu-enkephalin, leumorphin, neoendorphin-dynorphin-enkephalin prepropeptide	131340	spinocerebellar ataxia 23	SCA23	NA	21035104	Standard		NM_001190892	NA	Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.539G>A	20.37:g.1961195C>T	ENSP00000217305:p.Arg180His	NA	A8K0Q3	37	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772531	0.90108	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.86769	-2.17;-2.17;-2.17	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.94162	0.8127	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95090	0.8221	10	0.87932	D	0	-18.2484	15.1657	0.72821	0.0:1.0:0.0:0.0	.	180	P01213	PDYN_HUMAN	H	180	ENSP00000440185:R180H;ENSP00000442259:R180H;ENSP00000217305:R180H	ENSP00000217305:R180H	R	-	2	0	PDYN	1909195	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.652000	0.61454	2.445000	0.82738	0.313000	0.20887	CGC	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077569.2		-	ENST00000217305.2	Missense_Mutation	SNP	20 : 1961195 - 1961195 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	571	104
PES1	23481	broad.mit.edu	37	22	30976083	30976083	+	Missense_Mutation	SNP	G	G	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr22:30976083G>T	ENST00000405677.1	-	13	1652	c.709C>A	c.(709-711)Cag>Aag	p.Q237K	PES1_ENST00000354694.7_Missense_Mutation_p.Q376K|PES1_ENST00000402284.3_Missense_Mutation_p.Q359K|PES1_ENST00000335214.6_Missense_Mutation_p.Q371K|PES1_ENST00000402281.1_Missense_Mutation_p.Q237K	NM_001282328.1	NP_001269257.1	O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	376	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TCGACAATCTGATGGGTGATG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	145	148			NA	NA	22		NA											NA				30976083		2203	4300	6503	SO:0001583	missense			U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029	23481	23481			8848	protein-coding gene	gene with protein product		605819	pescadillo (zebrafish) homolog 1, containing BRCT domain, pescadillo homolog 1, containing BRCT domain (zebrafish)		NA	8985183, 10591208, 17353269	Standard	NM_014303	NM_014303	NA	Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.709C>A	22.37:g.30976083G>T	ENSP00000385654:p.Gln237Lys	NA	Q6IC29	37		.	.	.	.	.	.	.	.	.	.	G	36	5.682142	0.96774	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	5.28	5.28	0.74379	BRCT (4);	0.127391	0.56097	D	0.000035	D	0.89781	0.6814	M	0.89287	3.02	0.80722	D	1	D;D;P;D	0.63046	0.969;0.992;0.925;0.969	P;D;P;P	0.67382	0.72;0.951;0.616;0.72	D	0.91528	0.5240	10	0.72032	D	0.01	-34.7935	18.5306	0.90990	0.0:0.0:1.0:0.0	.	376;359;371;376	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	K	376;237;237;359;371	ENSP00000346725:Q376K;ENSP00000384366:Q237K;ENSP00000385654:Q237K;ENSP00000384252:Q359K;ENSP00000334612:Q371K	ENSP00000334612:Q371K	Q	-	1	0	PES1	29306083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.655000	0.98512	2.467000	0.83353	0.655000	0.94253	CAG	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321189.2		-	ENST00000405677.1	Missense_Mutation	SNP	22 : 30976083 - 30976083 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	643	127
PHYKPL	85007	broad.mit.edu	37	5	177642327	177642327	+	Missense_Mutation	SNP	C	C	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr5:177642327C>A	ENST00000308158.5	-	9	1266	c.1032G>T	c.(1030-1032)atG>atT	p.M344I	PHYKPL_ENST00000481811.1_5'UTR	NM_153373.2	NP_699204.1			5-phosphohydroxy-L-lysine phospho-lyase	NA											NA						CGAGGAGCTGCATCAGGAAGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	42	44			NA	NA	5		NA											NA				177642327		2203	4300	6503	SO:0001583	missense			BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	85007	85007	4.2.3.134		28249	protein-coding gene	gene with protein product	5-phosphonooxy-L-lysine phospho-lyase	614683	alanine-glyoxylate aminotransferase 2-like 2	AGXT2L2	NA	22241472	Standard	NM_032921	NM_153373	NA	Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.1032G>T	5.37:g.177642327C>A	ENSP00000310978:p.Met344Ile	NA		37	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	C	6.032	0.374255	0.11409	.	.	ENSG00000175309	ENST00000308158	T	0.18502	2.21	5.3	5.3	0.74995	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.182611	0.64402	D	0.000017	T	0.12008	0.0292	N	0.25286	0.73	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.13407	0.009;0.004	T	0.11275	-1.0594	10	0.29301	T	0.29	-7.605	11.5406	0.50665	0.1788:0.8212:0.0:0.0	.	344;344	A8K7P6;Q8IUZ5	.;AT2L2_HUMAN	I	344	ENSP00000310978:M344I	ENSP00000310978:M344I	M	-	3	0	AGXT2L2	177574933	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	1.815000	0.38981	2.480000	0.83734	0.561000	0.74099	ATG	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253477.1		-	ENST00000308158.5	Missense_Mutation	SNP	5 : 177642327 - 177642327 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	118	4
PRKRIR	5612	broad.mit.edu	37	11	76063580	76063580	+	Missense_Mutation	SNP	A	A	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:76063580A>G	ENST00000260045.3	-	5	719	c.614T>C	c.(613-615)cTg>cCg	p.L205P		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	205					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CCGACACTCCAGCAGTGCCTG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	39	39			NA	NA	11		NA											NA				76063580		2199	4287	6486	SO:0001583	missense			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492	5612	5612		THAP (C2CH-type zinc finger) domain containing	9440	protein-coding gene	gene with protein product	THAP domain containing 12	607374			NA	9447982	Standard	NM_004705	NM_004705	NA	Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.614T>C	11.37:g.76063580A>G	ENSP00000260045:p.Leu205Pro	NA	A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	37	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615922	0.66672	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	.	.	.	4.75	4.75	0.60458	.	0.061993	0.64402	D	0.000003	T	0.77452	0.4132	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.80759	-0.1239	9	0.87932	D	0	.	14.5953	0.68400	1.0:0.0:0.0:0.0	.	205	O43422	P52K_HUMAN	P	30;205	.	ENSP00000260045:L205P	L	-	2	0	PRKRIR	75741228	1.000000	0.71417	0.993000	0.49108	0.908000	0.53690	8.562000	0.90719	1.925000	0.55765	0.397000	0.26171	CTG	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383188.1		-	ENST00000260045.3	Missense_Mutation	SNP	11 : 76063580 - 76063580 G PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	373	78
PTPN12	5782	broad.mit.edu	37	7	77230064	77230064	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr7:77230064G>A	ENST00000248594.6	+	8	908	c.636G>A	c.(634-636)atG>atA	p.M212I	PTPN12_ENST00000415482.2_Missense_Mutation_p.M93I|PTPN12_ENST00000435495.2_Missense_Mutation_p.M82I	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	212	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TTCTGGACATGATAAGCTTAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	91	96			NA	NA	7		NA											NA				77230064		2203	4300	6503	SO:0001583	missense				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947	NA	5782		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9645	protein-coding gene	gene with protein product		600079			NA	7509295	Standard		NM_002835	NA	Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.636G>A	7.37:g.77230064G>A	ENSP00000248594:p.Met212Ile	NA	Q16130|Q59FD6|Q75MN8|Q86XU4	37	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202288	0.94997	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;D;D	0.82893	2.85;-1.66;-1.66	5.51	5.51	0.81932	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.87478	0.6187	L	0.41573	1.285	0.80722	D	1	D	0.58620	0.983	D	0.63033	0.91	D	0.88185	0.2873	10	0.66056	D	0.02	.	19.4115	0.94675	0.0:0.0:1.0:0.0	.	212	Q05209	PTN12_HUMAN	I	212;93;93;82	ENSP00000248594:M212I;ENSP00000392429:M93I;ENSP00000397991:M82I	ENSP00000248594:M212I	M	+	3	0	PTPN12	77068000	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.824000	0.86668	2.585000	0.87301	0.557000	0.71058	ATG	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253183.3		+	ENST00000248594.6	Missense_Mutation	SNP	7 : 77230064 - 77230064 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	506	108
RNF43	54894	broad.mit.edu	37	17	56440904	56440904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:56440904G>A	ENST00000584437.1	-	3	2388	c.433C>T	c.(433-435)Cga>Tga	p.R145*	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R18*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R145*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R104*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.R145*|RNF43_ENST00000581868.1_Nonsense_Mutation_p.R18*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R104*			Q68DV7	RNF43_HUMAN	ring finger protein 43	145						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.R145*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGCAGCTCGATCCTCAGTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	pancreas(1)											127	122	123			NA	NA	17		NA											NA				56440904		2203	4300	6503	SO:0001587	stop_gained				CCDS11607.1	17q23.2	2013-01-09					54894	54894		RING-type (C3HC4) zinc fingers	18505	protein-coding gene	gene with protein product		612482			NA		Standard	NM_017763	NM_017763	NA	Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.433C>T	17.37:g.56440904G>A	ENSP00000463069:p.Arg145*	NA	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	44	10.601706	0.99435	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	.	.	.	5.4	4.41	0.53225	.	0.592346	0.16161	N	0.226756	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-19.4207	8.5535	0.33467	0.0:0.1579:0.5559:0.2861	.	.	.	.	X	145;104	.	ENSP00000385328:R145X	R	-	1	2	RNF43	53795903	0.980000	0.34600	0.994000	0.49952	0.991000	0.79684	2.127000	0.42035	1.234000	0.43709	0.591000	0.81541	CGA	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444713.1		-	ENST00000584437.1	Nonsense_Mutation	SNP	17 : 56440904 - 56440904 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	818	166
RSPH6A	81492	broad.mit.edu	37	19	46307696	46307696	+	Silent	SNP	C	C	T	rs146411467		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:46307696C>T	ENST00000221538.3	-	3	1609	c.1467G>A	c.(1465-1467)tcG>tcA	p.S489S	RSPH6A_ENST00000600188.1_Silent_p.S225S|RSPH6A_ENST00000597055.1_Silent_p.S489S	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	489						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GCGTGGCGGCCGAGATGCGGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	45	45	45		1467	-1.7	1	19	dbSNP_134	45	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RSPH6A	NM_030785.3		0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154		489/718	46307696	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941	81492	81492			14241	protein-coding gene	gene with protein product		607548	radial spokehead-like 1	RSHL1	NA	11237735	Standard		NM_030785	NA	Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1467G>A	19.37:g.46307696C>T		NA	Q53FE2|Q6PEZ9	37	CCDS12675.1																																																																																			RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461657.1		-	ENST00000221538.3	Silent	SNP	19 : 46307696 - 46307696 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	270	13
SAE1	10055	broad.mit.edu	37	19	47646755	47646755	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:47646755C>T	ENST00000413379.3	+	2	205	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	SAE1_ENST00000392776.3_Missense_Mutation_p.R35W|SAE1_ENST00000598840.1_Missense_Mutation_p.R35W|SAE1_ENST00000270225.7_Missense_Mutation_p.R35W|SAE1_ENST00000540850.1_5'UTR	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	35					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity	p.R35W(2)		endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TTACAGGCTGCGGGCCTCTCG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	endometrium(2)											81	80	80			NA	NA	19		NA											NA				47646755		2203	4300	6503	SO:0001583	missense			BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230	10055	10055		Ubiquitin-like modifier activating enzymes	30660	protein-coding gene	gene with protein product	activator Of sumo 1	613294			NA	10187858, 9920803, 10217437	Standard	NM_005500	NM_005500	NA	Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000413379.3:c.103C>T	19.37:g.47646755C>T	ENSP00000416557:p.Arg35Trp	NA	B2RDP5|O95717|Q9P020	37	CCDS54285.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049237	0.75846	.	.	ENSG00000142230	ENST00000413379;ENST00000270225;ENST00000392776;ENST00000414294	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.85	4.81	0.61882	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83275	0.5219	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.86378	0.1727	10	0.72032	D	0.01	.	15.35	0.74376	0.1409:0.8591:0.0:0.0	.	35;35;35	G3XAK6;F5GXX7;Q9UBE0	.;.;SAE1_HUMAN	W	35	ENSP00000416557:R35W;ENSP00000270225:R35W;ENSP00000440818:R35W;ENSP00000398818:R35W	ENSP00000270225:R35W	R	+	1	2	SAE1	52338595	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.111000	0.57838	1.471000	0.48121	-0.175000	0.13238	CGG	SAE1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466769.1		+	ENST00000413379.3	Missense_Mutation	SNP	19 : 47646755 - 47646755 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	276	6
SAMD15	161394	broad.mit.edu	37	14	77846757	77846757	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr14:77846757G>A	ENST00000216471.4	+	2	2007	c.1721G>A	c.(1720-1722)cGa>cAa	p.R574Q	SAMD15_ENST00000533095.2_5'UTR	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	574	SAM.									breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATCAGTGGCCGAAAACTCATT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	121	131			NA	NA	14		NA											NA				77846757		2203	4300	6503	SO:0001583	missense			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583	161394	161394		Sterile alpha motif (SAM) domain containing	18631	protein-coding gene	gene with protein product			family with sequence similarity 15, member A, chromosome 14 open reading frame 174	FAM15A, C14orf174	NA		Standard	NM_001010860	XM_006720069	NA	Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1721G>A	14.37:g.77846757G>A	ENSP00000216471:p.Arg574Gln	NA	Q2M3P3	37	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554722	0.45487	.	.	ENSG00000100583	ENST00000216471	D	0.84873	-1.91	5.07	1.12	0.20585	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.859730	0.09191	N	0.836016	T	0.76807	0.4039	L	0.43646	1.37	0.22066	N	0.999384	B	0.24963	0.115	B	0.18263	0.021	T	0.59968	-0.7354	10	0.30854	T	0.27	-5.6633	6.0754	0.19913	0.2325:0.1411:0.6264:0.0	.	574	Q9P1V8	SAM15_HUMAN	Q	574	ENSP00000216471:R574Q	ENSP00000216471:R574Q	R	+	2	0	SAMD15	76916510	0.713000	0.27926	0.996000	0.52242	0.913000	0.54294	-0.007000	0.12810	0.149000	0.19098	0.561000	0.74099	CGA	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394587.2		+	ENST00000216471.4	Missense_Mutation	SNP	14 : 77846757 - 77846757 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	237	42
SEL1L2	80343	broad.mit.edu	37	20	13846127	13846127	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr20:13846127C>T	ENST00000284951.5	-	16	1512	c.1438G>A	c.(1438-1440)Gct>Act	p.A480T	SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	480						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AATTTCTCAGCCCAGTGGCCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	79	80			NA	NA	20		NA											NA				13846127		1900	4111	6011	SO:0001583	missense			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251	80343	80343			15897	protein-coding gene	gene with protein product		614289	chromosome 20 open reading frame 50	C20orf50	NA		Standard	NM_025229	NM_001271539	NA	Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1438G>A	20.37:g.13846127C>T	ENSP00000284951:p.Ala480Thr	NA		37		.	.	.	.	.	.	.	.	.	.	C	18.20	3.570723	0.65765	.	.	ENSG00000101251	ENST00000284951	T	0.50813	0.73	5.88	5.88	0.94601	.	0.000000	0.56097	D	0.000036	T	0.52403	0.1732	L	0.39245	1.2	0.46260	D	0.998956	D	0.67145	0.996	P	0.61070	0.883	T	0.36286	-0.9754	10	0.14656	T	0.56	-7.8336	12.6549	0.56782	0.165:0.835:0.0:0.0	.	480	Q5TEA6	SE1L2_HUMAN	T	480	ENSP00000284951:A480T	ENSP00000284951:A480T	A	-	1	0	SEL1L2	13794127	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.684000	0.61686	2.774000	0.95407	0.655000	0.94253	GCT	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000078067.3		-	ENST00000284951.5	Missense_Mutation	SNP	20 : 13846127 - 13846127 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	441	19
SIRPA	140885	broad.mit.edu	37	20	1902132	1902132	+	Silent	SNP	A	A	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr20:1902132A>T	ENST00000358771.4	+	3	680	c.528A>T	c.(526-528)tcA>tcT	p.S176S	SIRPA_ENST00000356025.3_Silent_p.S176S|SIRPA_ENST00000400068.3_Silent_p.S176S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	176	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	p.S176S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACGGCTTCTCACCCAGAGACA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(155;1668 1920 5945 42733 48121)							NA				1	Substitution - coding silent(1)	kidney(1)											70	67	68			NA	NA	20		NA											NA				1902132		2203	4297	6500	SO:0001819	synonymous_variant			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053	140885	140885		Signal-regulatory proteins, CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C1-set domain containing	9662	protein-coding gene	gene with protein product		602461	protein tyrosine phosphatase, non-receptor type substrate 1	PTPNS1	NA	9070220, 9062191, 16339511	Standard	NM_080792	XM_005260669	NA	Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.528A>T	20.37:g.1902132A>T		NA	A2A2E1|A8K411|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	37	CCDS13022.1																																																																																			SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077568.2		+	ENST00000358771.4	Silent	SNP	20 : 1902132 - 1902132 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	231	4
SLX4	84464	broad.mit.edu	37	16	3658718	3658718	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:3658718C>T	ENST00000294008.3	-	2	888	c.248G>A	c.(247-249)gGc>gAc	p.G83D		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	83	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TATCTGAGTGCCGTTTGAGGC	0.458		NA						Direct reversal of damage						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	156	162			NA	NA	16		NA											NA				3658718		2197	4300	6497	SO:0001583	missense			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827	84464	84464		Fanconi anemia, complementation groups, BTB/POZ domain containing	23845	protein-coding gene	gene with protein product	Fanconi anemia, complementation group P	613278	BTB (POZ) domain containing 12, SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)	BTBD12	NA	11347906, 19595721	Standard	NM_032444	NM_032444	NA	Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.248G>A	16.37:g.3658718C>T	ENSP00000294008:p.Gly83Asp	NA	Q69YT8|Q8TF15|Q96JP1	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	7.023	0.559006	0.13436	.	.	ENSG00000188827	ENST00000294008	T	0.01172	5.23	5.52	3.52	0.40303	.	1.253230	0.05848	N	0.620726	T	0.01320	0.0043	N	0.22421	0.69	0.09310	N	1	P	0.45902	0.868	B	0.42386	0.386	T	0.52102	-0.8620	10	0.33940	T	0.23	.	6.3924	0.21593	0.1503:0.6881:0.0:0.1616	.	83	Q8IY92	SLX4_HUMAN	D	83	ENSP00000294008:G83D	ENSP00000294008:G83D	G	-	2	0	SLX4	3598719	0.137000	0.22531	0.178000	0.23040	0.049000	0.14656	0.640000	0.24705	0.756000	0.33013	0.655000	0.94253	GGC	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157301.3		-	ENST00000294008.3	Missense_Mutation	SNP	16 : 3658718 - 3658718 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	594	8
SMAD2	4087	broad.mit.edu	37	18	45368211	45368211	+	Nonsense_Mutation	SNP	G	G	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr18:45368211G>C	ENST00000402690.2	-	11	1785	c.1391C>G	c.(1390-1392)tCa>tGa	p.S464*	SMAD2_ENST00000586040.1_Nonsense_Mutation_p.S434*|SMAD2_ENST00000356825.4_Nonsense_Mutation_p.S434*|SMAD2_ENST00000262160.6_Nonsense_Mutation_p.S464*	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	464	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	p.S464*(4)|p.R462fs*>4(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TGACATGCTTGAGCAACGCAC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				5	Substitution - Nonsense(4)|Deletion - Frameshift(1)	large_intestine(4)|kidney(1)											162	130	141			NA	NA	18		NA											NA				45368211		2203	4300	6503	SO:0001587	stop_gained			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387	4087	4087		SMADs	6768	protein-coding gene	gene with protein product		601366	MAD, mothers against decapentaplegic homolog 2 (Drosophila), SMAD, mothers against DPP homolog 2 (Drosophila)	MADH2	NA	8752209, 8673135	Standard	NM_005901	NM_001003652	NA	Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.1391C>G	18.37:g.45368211G>C	ENSP00000384449:p.Ser464*	NA		37	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	G	41	8.723736	0.98929	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	.	.	.	X	464;434;464	.	ENSP00000262160:S464X	S	-	2	0	SMAD2	43622209	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.781000	0.99029	2.824000	0.97209	0.655000	0.94253	TCA	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450571.1		-	ENST00000402690.2	Nonsense_Mutation	SNP	18 : 45368211 - 45368211 C PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	273	60
SMAD4	4089	broad.mit.edu	37	18	48591889	48591889	+	Missense_Mutation	SNP	A	A	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr18:48591889A>C	ENST00000588745.1	+	5	764	c.764A>C	c.(763-765)gAt>gCt	p.D255A	SMAD4_ENST00000342988.3_Missense_Mutation_p.D351A|SMAD4_ENST00000398417.2_Missense_Mutation_p.D351A			Q13485	SMAD4_HUMAN	SMAD family member 4	351					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GTTACTGTTGATGGATACGTG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				38	Whole gene deletion(36)|Unknown(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)											237	199	212			NA	NA	18		NA											NA				48591889		2203	4300	6503	SO:0001583	missense			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646	4089	4089		SMADs	6770	protein-coding gene	gene with protein product		600993	MAD, mothers against decapentaplegic homolog 4 (Drosophila), SMAD, mothers against DPP homolog 4 (Drosophila)	MADH4	NA	8553070, 8774881	Standard	NM_005359	NM_005359	NA	Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000588745.1:c.764A>C	18.37:g.48591889A>C	ENSP00000464901:p.Asp255Ala	NA	A8K405	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.942647	0.92526	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98437	-4.93;-4.93	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.044633	0.85682	D	0.000000	D	0.99239	0.9735	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99069	1.0833	10	0.87932	D	0	.	15.2431	0.73485	1.0:0.0:0.0:0.0	.	351	Q13485	SMAD4_HUMAN	A	351	ENSP00000341551:D351A;ENSP00000381452:D351A	ENSP00000341551:D351A	D	+	2	0	SMAD4	46845887	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.159000	0.94728	2.237000	0.73441	0.460000	0.39030	GAT	SMAD4-004	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449729.1		+	ENST00000588745.1	Missense_Mutation	SNP	18 : 48591889 - 48591889 C PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	390	86
SPATA9	83890	broad.mit.edu	37	5	95011166	95011166	+	Missense_Mutation	SNP	G	G	A	rs140676515	byFrequency	TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr5:95011166G>A	ENST00000274432.8	-	3	469	c.328C>T	c.(328-330)Cgt>Tgt	p.R110C	SPATA9_ENST00000395899.3_Missense_Mutation_p.R110C|SPATA9_ENST00000477047.2_5'UTR|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	110					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CTCAGCAGACGACCAGATATG	0.433		NA											G	3	0.0014	0.01	NA	2184	NA	1	,	,	NA	4e-04	NA	NA	NA	0.0014	1	LOWCOV,EXOME	NA	NA	9e-04	SNP								NA				0								G	CYS/ARG	29,4377	35.2+/-66.4	0,29,2174	133	113	120		328	3.9	0	5	dbSNP_134	120	0,8600		0,0,4300	yes	missense	SPATA9	NM_031952.3	180	0,29,6474	AA,AG,GG	NA	0.0,0.6582,0.223	probably-damaging	110/255	95011166	29,12977	2203	4300	6503	SO:0001583	missense			AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757	83890	83890			22988	protein-coding gene	gene with protein product		608039			NA	12493713	Standard	NM_031952	NM_031952	NA	Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.328C>T	5.37:g.95011166G>A	ENSP00000274432:p.Arg110Cys	NA	A8K8H3|Q4G122|Q86X33|Q8NA28	37	CCDS4076.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	12.73	2.024694	0.35701	0.006582	0.0	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.31510	1.49	4.76	3.88	0.44766	.	0.000000	0.51477	D	0.000082	T	0.26448	0.0646	L	0.27053	0.805	0.19300	N	0.999974	D	0.67145	0.996	P	0.57371	0.819	T	0.05818	-1.0862	10	0.87932	D	0	-8.0846	10.6281	0.45519	0.0:0.0:0.8093:0.1907	.	110	Q9BWV2	SPAT9_HUMAN	C	110	ENSP00000274432:R110C	ENSP00000274432:R110C	R	-	1	0	SPATA9	95036922	0.074000	0.21230	0.029000	0.17559	0.011000	0.07611	1.948000	0.40303	1.329000	0.45376	0.655000	0.94253	CGT	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000304036.1		-	ENST00000274432.8	Missense_Mutation	SNP	5 : 95011166 - 95011166 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	318	54
SPTA1	6708	broad.mit.edu	37	1	158605758	158605758	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:158605758G>A	ENST00000368147.4	-	38	5557	c.5377C>T	c.(5377-5379)Cgg>Tgg	p.R1793W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGCCAGCCGCAACTGGATC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	0,3960		0,0,1980	116	123	121		5377	3.6	1	1		121	1,8319		0,1,4159	no	missense	SPTA1	NM_003126.2	101	0,1,6139	AA,AG,GG	NA	0.012,0.0,0.0081	probably-damaging	1793/2420	158605758	1,12279	1980	4160	6140	SO:0001583	missense			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	6708	6708		EF-hand domain containing	11272	protein-coding gene	gene with protein product	elliptocytosis 2	182860	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		NA		Standard	NM_003126	NM_003126	NA	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5377C>T	1.37:g.158605758G>A	ENSP00000357129:p.Arg1793Trp	NA	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033837	0.54896	0.0	1.2E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56444	0.46;0.46	5.65	3.62	0.41486	.	0.000000	0.29266	N	0.012655	T	0.70736	0.3258	M	0.89840	3.065	0.50467	D	0.999872	D	0.89917	1.0	D	0.97110	1.0	T	0.78663	-0.2116	10	0.87932	D	0	.	13.3664	0.60687	0.0:0.0:0.6481:0.3519	.	1793	P02549	SPTA1_HUMAN	W	1793	ENSP00000357130:R1793W;ENSP00000357129:R1793W	ENSP00000357129:R1793W	R	-	1	2	SPTA1	156872382	1.000000	0.71417	0.987000	0.45799	0.205000	0.24178	2.658000	0.46733	1.575000	0.49775	0.655000	0.94253	CGG	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051851.3		-	ENST00000368147.4	Missense_Mutation	SNP	1 : 158605758 - 158605758 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	639	6
TULP4	56995	broad.mit.edu	37	6	158922970	158922970	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr6:158922970G>A	ENST00000367097.3	+	13	3632	c.2275G>A	c.(2275-2277)Gga>Aga	p.G759R	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	759					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGTGATTTTCGGAAGCGTGGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	188	191			NA	NA	6		NA											NA				158922970		2203	4300	6503	SO:0001583	missense				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338	56995	56995		WD repeat domain containing	15530	protein-coding gene	gene with protein product					NA	11595174	Standard	NM_020245	NM_020245	NA	Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2275G>A	6.37:g.158922970G>A	ENSP00000356064:p.Gly759Arg	NA	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	37	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270972	0.80469	.	.	ENSG00000130338	ENST00000367097	T	0.61980	0.06	5.64	5.64	0.86602	.	0.395439	0.28327	N	0.015758	T	0.44932	0.1317	L	0.56769	1.78	0.80722	D	1	P	0.45011	0.848	B	0.34722	0.188	T	0.56565	-0.7958	10	0.54805	T	0.06	-15.9636	14.9195	0.70826	0.0707:0.0:0.9293:0.0	.	759	Q9NRJ4	TULP4_HUMAN	R	759	ENSP00000356064:G759R	ENSP00000356064:G759R	G	+	1	0	TULP4	158842958	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	5.865000	0.69583	2.659000	0.90383	0.650000	0.86243	GGA	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042869.1		+	ENST00000367097.3	Missense_Mutation	SNP	6 : 158922970 - 158922970 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	877	49
URB2	9816	broad.mit.edu	37	1	229763503	229763503	+	Silent	SNP	A	A	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:229763503A>G	ENST00000258243.2	+	2	259	c.123A>G	c.(121-123)gaA>gaG	p.E41E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	41						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAAATAAAGAACAAGTAAGTT	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	87	84			NA	NA	1		NA											NA				229763503		2203	4300	6503	SO:0001819	synonymous_variant			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763	9816	9816			28967	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1		KIAA0133	KIAA0133	NA	8590280	Standard	NM_014777	NM_014777	NA	Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.123A>G	1.37:g.229763503A>G		NA	Q5VYC9	37	CCDS31052.1																																																																																			URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095232.1		+	ENST00000258243.2	Silent	SNP	1 : 229763503 - 229763503 G PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	506	8
ZNF382	84911	broad.mit.edu	37	19	37118421	37118421	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:37118421C>T	ENST00000435416.1	+	3	3114	c.1619C>T	c.(1618-1620)aCt>aTt	p.T540I	ZNF382_ENST00000423582.1_Missense_Mutation_p.T492I|ZNF382_ENST00000292928.2_Missense_Mutation_p.T541I|ZNF382_ENST00000439428.1_Missense_Mutation_p.T540I			Q96SR6	ZN382_HUMAN	zinc finger protein 382	541	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CATCAGAAAACTCACAAGGTA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	65	65			NA	NA	19		NA											NA				37118421		2203	4300	6503	SO:0001583	missense			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298	84911	84911		Zinc fingers, C2H2-type, -	17409	protein-coding gene	gene with protein product		609516			NA		Standard	NM_032825	NM_032825	NA	Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000435416.1:c.1619C>T	19.37:g.37118421C>T	ENSP00000410113:p.Thr540Ile	NA	A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	37		.	.	.	.	.	.	.	.	.	.	C	0.024	-1.392618	0.01185	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.06687	3.27;3.38;3.39;3.4	4.35	2.24	0.28232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.155759	0.30277	N	0.009982	T	0.02380	0.0073	N	0.02802	-0.49	0.29661	N	0.843215	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.40997	-0.9533	10	0.07813	T	0.8	.	4.1521	0.10242	0.0:0.5955:0.1948:0.2097	.	540;540;541	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	I	492;541;540;540	ENSP00000389722:T492I;ENSP00000292928:T541I;ENSP00000407593:T540I;ENSP00000410113:T540I	ENSP00000292928:T541I	T	+	2	0	ZNF382	41810261	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.905000	0.04075	1.192000	0.43071	0.591000	0.81541	ACT	ZNF382-004	KNOWN	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000340399.1		+	ENST00000435416.1	Missense_Mutation	SNP	19 : 37118421 - 37118421 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	385	57
ZNF585B	92285	broad.mit.edu	37	19	37676154	37676154	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:37676154C>T	ENST00000532828.2	-	5	2536	c.2285G>A	c.(2284-2286)aGt>aAt	p.S762N	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S707N|ZNF585B_ENST00000312908.5_Missense_Mutation_p.S350N	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	762					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGATGAACACTGAACACTGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(93;882 1454 18863 28917 48427)							NA				0													169	147	154			NA	NA	19		NA											NA				37676154		2203	4300	6503	SO:0001583	missense			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680	92285	92285		Zinc fingers, C2H2-type, -	30948	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152279	NM_152279	NA	Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.2285G>A	19.37:g.37676154C>T	ENSP00000433773:p.Ser762Asn	NA	Q8IZD3|Q96JW6	37	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	5.066	0.197903	0.09652	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.15718	2.4;2.4;2.4	2.72	-0.663	0.11410	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.836945	0.10095	N	0.716705	T	0.08492	0.0211	N	0.16233	0.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37709	-0.9694	10	0.27082	T	0.32	.	4.5817	0.12262	0.0:0.4379:0.331:0.231	.	707;762	E9PQH3;Q52M93	.;Z585B_HUMAN	N	707;762;350	ENSP00000436774:S707N;ENSP00000433773:S762N;ENSP00000442139:S350N	ENSP00000442139:S350N	S	-	2	0	ZNF585B	42367994	0.000000	0.05858	0.093000	0.20910	0.199000	0.23934	-2.835000	0.00741	0.221000	0.20879	0.305000	0.20034	AGT	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388272.2		-	ENST00000532828.2	Missense_Mutation	SNP	19 : 37676154 - 37676154 T PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	734	143
ZNF688	146542	broad.mit.edu	37	16	30581656	30581656	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:30581656G>A	ENST00000223459.6	-	3	1516	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	ZNF688_ENST00000395219.1_Missense_Mutation_p.R124C	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						TCAGGGTTGCGTTCCACCAGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	46	47			NA	NA	16		NA											NA				30581656		2197	4300	6497	SO:0001583	missense			AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809	146542	146542		Zinc fingers, C2H2-type, -	30489	protein-coding gene	gene with protein product					NA	10493829	Standard	NM_145271	XM_005255139	NA	Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.412C>T	16.37:g.30581656G>A	ENSP00000223459:p.Arg138Cys	NA	B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	37	CCDS10684.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342937	0.24339	.	.	ENSG00000229809	ENST00000395219;ENST00000223459	T;T	0.04360	3.64;3.85	4.38	2.33	0.28932	.	.	.	.	.	T	0.03477	0.0100	N	0.22421	0.69	0.09310	N	1	P;D	0.53151	0.696;0.958	B;B	0.38296	0.186;0.27	T	0.44498	-0.9324	9	0.51188	T	0.08	.	8.6385	0.33964	0.0939:0.1533:0.7528:0.0	.	138;124	P0C7X2;A8MV39	ZN688_HUMAN;.	C	124;138	ENSP00000378645:R124C;ENSP00000223459:R138C	ENSP00000223459:R138C	R	-	1	0	ZNF688	30489157	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	0.659000	0.24994	0.191000	0.20236	-1.151000	0.01829	CGC	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255544.2		-	ENST00000223459.6	Missense_Mutation	SNP	16 : 30581656 - 30581656 A PAAD-TCGA-3E-AAAZ-Tumor-SM-5W7VC	355	74
